Unique variants in gene PMS1

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

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Reported     

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     
?/? 1 - c.-5C>A r.(=) p.(=) g.190656531C>A - PMS1_000019 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.132+38A>C r.(=) p.(=) g.190656705A>C - PMS1_000039 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.133-37T>C r.(=) p.(=) g.190660458T>C - PMS1_000047 - - Germline - - - - Despoina Kalfakakou
+/+ 3 - c.163C>T r.(?) p.(Arg55*) g.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - Despoina Kalfakakou
?/? 4 - c.171C>T r.(=) p.(=) g.190660533C>T - PMS1_000020 rs756254396 - Germline - - - - Despoina Kalfakakou
-/- 3 - c.174G>T r.(=) p.(=) g.190660536G>T - PMS1_000002 rs143323454 - Germline - - - - Despoina Kalfakakou
-?/-? 3 - c.175G>A r.(?) p.(Glu59Lys) g.190660537G>A - PMS1_000003 rs143265397 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.188C>G r.(?) p.(Ala63Gly) g.190660550C>G - PMS1_000053 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.224C>T r.(?) p.(Thr75Ile) g.190660586C>T - PMS1_000004 rs61756360 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.278G>A r.(?) p.(Arg93His) g.190660640G>A - PMS1_000005 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.316-4C>G r.spl? p.? g.190670374C>G - PMS1_000023 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.492A>G r.(=) p.(=) g.190682816A>G - PMS1_000061 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.582+18T>C r.(=) p.(=) g.190682924T>C - PMS1_000060 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.582+23A>G r.(=) p.(=) g.190682929A>G - PMS1_000043 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.582+42A>G r.(=) p.(=) g.190682948A>G - PMS1_000055 rs56132913 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.583-50T>C r.(=) p.(=) g.190708640T>C - PMS1_000032 rs5743111 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.596A>C r.(?) p.(Gln199Pro) g.190708703A>C - PMS1_000038 - - Germline - - - - Despoina Kalfakakou
./. 5 - c.605G>A r.(?) p.(Arg202Lys) g.190708712G>A - PMS1_000062 rs2066459 - - - - - - Stevi Xera
+/+ 2 - c.793C>T r.(?) p.(Arg265*) g.190717474C>T - PMS1_000035 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.800T>A r.(?) p.(Val267Glu) g.190717481T>A - PMS1_000045 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.822+38A>C r.(=) p.(=) g.190717541A>C - PMS1_000048 rs367952807 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.822+52_822+53insT r.(=) p.(=) g.190717555_190717556insT - PMS1_000031 rs56050321 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.823-35T>C r.(=) p.(=) g.190718630T>C - PMS1_000044 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.823-14A>G r.(=) p.(=) g.190718651A>G - PMS1_000056  rs368186524 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.829C>T r.(?) p.(Arg277*) g.190718671C>T - PMS1_000006 rs768246348 - Germline - - - - Despoina Kalfakakou
./. 1 - c.868C>T r.(?) p.(Arg290Cys) g.190718710C>T - PMS1_000063 - - - - - - - Stevi Xera
?/? 1 - c.966+5C>T r.spl? p.? g.190718813C>T - PMS1_000041 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.966+37A>G r.(=) p.(=) g.190718845A>G - PMS1_000028 rs5743135 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.967-27C>T r.(=) p.(=) g.190718938C>T - PMS1_000046 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.967-25A>C r.(=) p.(=) g.190718940A>C - PMS1_000007 rs5743137 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.967-21T>C r.(=) p.(=) g.190718944T>C - PMS1_000034 - - Germline - - - - Despoina Kalfakakou
?/? 14 - c.1001C>T r.(?) p.(Thr334Met) g.190718999C>T - PMS1_000011 rs147084726 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.1018T>C r.(=) p.(=) g.190719016T>C - PMS1_000042 rs762083170 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1039G>C r.(?) p.(Glu347Gln) g.190719037G>C - PMS1_000012 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1062C>T r.(=) p.(=) g.190719060C>T - PMS1_000033 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1200A>C r.(=) p.(=) g.190719198A>C - PMS1_000008 - - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1258del r.(?) p.(His420Ilefs*22) g.190719256del - PMS1_000013 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1351A>C r.(?) p.(Thr451Pro) g.190719349A>C - PMS1_000024 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1363A>G r.(?) p.(Lys455Glu) g.190719361A>G - PMS1_000014 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1488T>C r.(=) p.(=) g.190719486T>C - PMS1_000021 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.1508T>A r.(?) p.(Ile503Lys) g.190719506T>A - PMS1_000049 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1587_1589del r.(?) p.(Asn532del) g.190719585_190719587del - PMS1_000022 - - Germline - - - - Despoina Kalfakakou
?/? 17 - c.1609G>A r.(?) p.(Glu537Lys) g.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1623T>G r.(=) p.(=) g.190719621T>G - PMS1_000029 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1643A>G r.(?) p.(Lys548Arg) g.190719641A>G - PMS1_000030 rs61736576 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1684G>C r.(?) p.(Ala562Pro) g.190719682G>C - PMS1_000057 rs147450758 - Germline - - - - Despoina Kalfakakou
+/+ 1 - c.1888C>T r.(?) p.(Arg630*) g.190728500C>T - PMS1_000037 rs139932286 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1912G>A r.(?) p.(Ala638Thr) g.190728524G>A - PMS1_000058 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1974C>T r.(=) p.(=) g.190728586C>T - PMS1_000059 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.1977A>T r.(=) p.(=) g.190728589A>T - PMS1_000010 - - Germline - - - - Despoina Kalfakakou
?/? 4 - c.1989C>T r.(=) p.(=) g.190728601C>T - PMS1_000015 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2064_2066del r.(?) p.(Arg690del) g.190728676_190728678del - PMS1_000051 - - Germline - - - - Despoina Kalfakakou
?/? 3 - c.2186A>G r.(?) p.(Asn729Ser) g.190728798A>G - PMS1_000001 rs201205478 - Germline - - - - Despoina Kalfakakou
-?/-? 1 - c.2283T>C r.(=) p.(=) g.190728895T>C - PMS1_000052 rs150341545 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2343-24A>G r.(=) p.(=) g.190732501A>G - PMS1_000036 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2473+42A>G r.(=) p.(=) g.190732697A>G - PMS1_000050 - - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2473+52C>T r.(=) p.(=) g.190732707C>T - PMS1_000016 - - Germline - - - - Despoina Kalfakakou
?/? 8 - c.2474-12T>C r.(=) p.(=) g.190738210T>C - PMS1_000017 rs201993417 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2634+4C>T r.spl? p.? g.190738386C>T - PMS1_000040 rs374353438 - Germline - - - - Despoina Kalfakakou
?/? 2 - c.2647C>T r.(?) p.(Arg883Cys) g.190742010C>T - PMS1_000025 rs142159998 - Germline - - - - Despoina Kalfakakou
-/- 5 - c.2661A>G r.(=) p.(=) g.190742024A>G - PMS1_000018 rs61748257 - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2683G>A r.(?) p.(Glu895Lys) g.190742046G>A - PMS1_000026 - - Germline - - - - Despoina Kalfakakou
?/? 1 - c.2684A>G r.(?) p.(Glu895Gly) g.190742047A>G - PMS1_000054 rs746934898 - Germline - - - - Despoina Kalfakakou
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