All transcript variants in gene PMS2

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

424 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     

Genetic origin     

Segregation     

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 - - - - Despoina Kalfakakou
./. - c.-4A>G r.(=) p.(=) g.6048654T>C - PMS2_000041 - - - - Despoina Kalfakakou
./. - c.-2C>T r.(=) p.(=) g.6048652G>A - PMS2_000094 - - - - Despoina Kalfakakou
./. - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 - - - - Despoina Kalfakakou
./. - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 - - - - Despoina Kalfakakou
./. - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 - - - - Despoina Kalfakakou
./. - c.23+10G>C r.(=) p.(=) g.6048618C>G - PMS2_000018 - - - - Despoina Kalfakakou
./. - c.23+31C>T r.(=) p.(=) g.6048597G>A - PMS2_000054 - - - - Despoina Kalfakakou
./. - c.23+36C>T r.(=) p.(=) g.6048592G>A - PMS2_000039 - - - - Despoina Kalfakakou
./. - c.24-28A>C r.(=) p.(=) g.6045690T>G - PMS2_000105 rs2881029 - - - Despoina Kalfakakou
./. - c.53T>C r.(?) p.(Ile18Thr) g.6045633A>G - PMS2_000019 - - - - Despoina Kalfakakou
./. - c.53T>C r.(?) p.(Ile18Thr) g.6045633A>G - PMS2_000019 - - - - Despoina Kalfakakou
./. - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 - - - - Despoina Kalfakakou
./. - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 - - - - Despoina Kalfakakou
./. - c.86G>C r.(?) p.(Gly29Ala) g.6045600C>G - PMS2_000017 - - - - Despoina Kalfakakou
./. - c.89A>C r.(?) p.(Gln30Pro) g.6045597T>G - PMS2_000053 rs1802682 - - - Despoina Kalfakakou
./. - c.89A>C r.(?) p.(Gln30Pro) g.6045597T>G - PMS2_000053 rs1802682 - - - Despoina Kalfakakou
./. - c.113C>T r.(?) p.(Ala38Val) g.6045573G>A - PMS2_000059 - - - - Despoina Kalfakakou
./. - c.117A>G r.(=) p.(=) g.6045569T>C - PMS2_000058 rs34839707 - - - Despoina Kalfakakou
./. - c.146C>G r.(?) p.(Ala49Gly) g.6045540G>C - PMS2_000096 - - - - Despoina Kalfakakou
./. - c.163+1G>T r.spl? p.? g.6045522C>A - PMS2_000095 - - - - Despoina Kalfakakou
./. - c.163+35A>C r.(=) p.(=) g.6045488T>G - PMS2_000057 - - - - Despoina Kalfakakou
./. - c.163+35A>C r.(=) p.(=) g.6045488T>G - PMS2_000057 - - - - Despoina Kalfakakou
./. - c.164-22G>A r.(=) p.(=) g.6043711C>T - PMS2_000075 - - - - Despoina Kalfakakou
./. - c.164-22G>A r.(=) p.(=) g.6043711C>T - PMS2_000075 - - - - Despoina Kalfakakou
./. - c.178G>A r.(?) p.(Asp60Asn) g.6043675C>T - PMS2_000093 - - - - Despoina Kalfakakou
./. - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 - - - - Despoina Kalfakakou
./. - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 - - - - Despoina Kalfakakou
./. - c.195T>C r.(=) p.(=) g.6043658A>G - PMS2_000040 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.240C>T r.(=) p.(=) g.6043613G>A - PMS2_000016 - - - - Despoina Kalfakakou
./. - c.241G>A r.(?) p.(Glu81Lys) g.6043612C>T - PMS2_000056 - - - - Despoina Kalfakakou
./. - c.244G>A r.(?) p.(Gly82Ser) g.6043609C>T - PMS2_000038 - - - - Despoina Kalfakakou
./. - c.244G>A r.(?) p.(Gly82Ser) g.6043609C>T - PMS2_000038 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.250+51C>T r.(=) p.(=) g.6043552G>A - PMS2_000037 - - - - Despoina Kalfakakou
./. - c.251-31A>T r.(=) p.(=) g.6043454T>A - PMS2_000068 - - - - Despoina Kalfakakou
./. - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 - - - - Despoina Kalfakakou
./. - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 - - - - Despoina Kalfakakou
./. - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 - - - - Despoina Kalfakakou
./. - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 - - - - Despoina Kalfakakou
./. - c.251-11C>G r.(=) p.(=) g.6043434G>C - PMS2_000036 - - - - Despoina Kalfakakou
./. - c.255G>A r.(=) p.(=) g.6043419C>T - PMS2_000085 - - - - Despoina Kalfakakou
./. - c.287C>T r.(?) p.(Ala96Val) g.6043387G>A - PMS2_000052 - - - - Despoina Kalfakakou
./. - c.288C>T r.(=) p.(=) g.6043386G>A - PMS2_000110 rs12532895 - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.353+7C>A r.(=) p.(=) g.6043314G>T - PMS2_000051 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-43T>C r.(=) p.(=) g.6042310A>G - PMS2_000011 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
./. - c.354-40G>A r.(=) p.(=) g.6042307C>T - PMS2_000034 - - - - Despoina Kalfakakou
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