All transcript variants in gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

421 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. - c.-50G>A r.(=) p.(=) g.6048700C>T - PMS2_000026 - - - - - - - Despoina Kalfakakou
-/- - c.-33C>T r.(=) p.(=) g.6048683G>A - PMS2_000067 rs562800874 - Germline - - - - Despoina Kalfakakou
?/? - c.-4A>G r.(=) p.(=) g.6048654T>C - PMS2_000041 rs544503598 - Germline - - - - Despoina Kalfakakou
?/? - c.-2C>T r.(=) p.(=) g.6048652G>A - PMS2_000094 rs876658209 - Germline - - - - Despoina Kalfakakou
+/+ 15 c.(?) r.(?) p.(?) g.(?_6012870)_(6013174_6017218)del - PMS2_000111 - Deletion extending 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates. HGVS description is probe-based. Germline - PMS2 exon 15 deletion - - Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou
-?/-? - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 rs192027828 - Germline - - - - Despoina Kalfakakou
?/? - c.23+31C>T r.(=) p.(=) g.6048597G>A - PMS2_000054 rs371201653 - Germline - - - - Despoina Kalfakakou
?/? - c.23+36C>T r.(=) p.(=) g.6048592G>A - PMS2_000039 - - Germline - - - - Despoina Kalfakakou
?/? - c.24-28A>C r.(=) p.(=) g.6045690T>G - PMS2_000105 rs2881029 - Germline - - - - Despoina Kalfakakou
?/? - c.53T>C r.(?) p.(Ile18Thr) g.6045633A>G - PMS2_000019 rs201343342 - Germline - - - - Despoina Kalfakakou
?/? - c.53T>C r.(?) p.(Ile18Thr) g.6045633A>G - PMS2_000019 rs201343342 - Germline - - - - Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - Despoina Kalfakakou
?/? - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 rs146176004 - Germline - - - - Despoina Kalfakakou
?/? - c.89A>C r.(?) p.(Gln30Pro) g.6045597T>G - PMS2_000053 rs1802682 - Germline - - - - Despoina Kalfakakou
?/? - c.89A>C r.(?) p.(Gln30Pro) g.6045597T>G - PMS2_000053 rs1802682 - Germline - - - - Despoina Kalfakakou
?/? - c.113C>T r.(?) p.(Ala38Val) g.6045573G>A - PMS2_000059 rs148270248 - Germline - - - - Despoina Kalfakakou
?/? - c.117A>G r.(=) p.(=) g.6045569T>C - PMS2_000058 rs34839707 - Germline - - - - Despoina Kalfakakou
?/? - c.146C>G r.(?) p.(Ala49Gly) g.6045540G>C - PMS2_000096 rs786203255 - Germline - - - - Despoina Kalfakakou
+?/+? - c.163+1G>T r.spl? p.? g.6045522C>A - PMS2_000095 rs1064795705 - Germline - - - - Despoina Kalfakakou
?/? - c.163+35A>C r.(=) p.(=) g.6045488T>G - PMS2_000057 - - Germline - - - - Despoina Kalfakakou
?/? - c.163+35A>C r.(=) p.(=) g.6045488T>G - PMS2_000057 - - Germline - - - - Despoina Kalfakakou
?/? - c.164-22G>A r.(=) p.(=) g.6043711C>T - PMS2_000075 - - Germline - - - - Despoina Kalfakakou
?/? - c.164-22G>A r.(=) p.(=) g.6043711C>T - PMS2_000075 - - Germline - - - - Despoina Kalfakakou
?/? - c.178G>A r.(?) p.(Asp60Asn) g.6043675C>T - PMS2_000093 rs587782176 - Germline - - - - Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - Despoina Kalfakakou
?/? - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 rs780080040 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
-?/-? - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 rs143162541 - Germline - - - - Despoina Kalfakakou
?/? - c.241G>A r.(?) p.(Glu81Lys) g.6043612C>T - PMS2_000056 rs730881919 - Germline - - - - Despoina Kalfakakou
?/? - c.244G>A r.(?) p.(Gly82Ser) g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - Despoina Kalfakakou
?/? - c.244G>A r.(?) p.(Gly82Ser) g.6043609C>T - PMS2_000038 rs754191682 - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - Germline - - - - Despoina Kalfakakou
?/? - c.251-31A>T r.(=) p.(=) g.6043454T>A - PMS2_000068 - - Germline - - - - Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
?/? - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 rs761795058 - Germline - - - - Despoina Kalfakakou
-?/-? - c.255G>A r.(=) p.(=) g.6043419C>T - PMS2_000085 rs200491279 - Germline - - - - Despoina Kalfakakou
?/? - c.287C>T r.(?) p.(Ala96Val) g.6043387G>A - PMS2_000052 - - Germline - - - - Despoina Kalfakakou
-/- - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
-?/-? - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 rs1057520512 - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou
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