Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839101T>C | CA230627478 | KCNJ1 | c.*24A>G (n.*24A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839101T= | CA2008286012 | KCNJ1 | c.*24A= (n.*24A=) | |
11 | g.128839103T>C | CA602585798 | KCNJ1 | c.*22A>G (n.*22A>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839103T= | CA2008286015 | KCNJ1 | c.*22A= (n.*22A=) | |
11 | g.128839105C= | CA2008286017 | KCNJ1 | c.*20G= (n.*20G=) | |
11 | g.128839105C>G | CA602585799 | KCNJ1 | c.*20G>C (n.*20G>C) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839105C>T | CA2527789655 | KCNJ1 | c.*20G>A (n.*20G>A) | gnomAD v4 |
11 | g.128839107C>A | CA602585800 | KCNJ1 | c.*18G>T (n.*18G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839107C= | CA2008286020 | KCNJ1 | c.*18G= (n.*18G=) | |
11 | g.128839108C= | CA2008286022 | KCNJ1 | c.*17G= (n.*17G=) | |
11 | g.128839108C>T | CA602585801 | KCNJ1 | c.*17G>A (n.*17G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839109C= | CA2008286024 | KCNJ1 | c.*16G= (n.*16G=) | |
11 | g.128839109C>T | CA6357371 | KCNJ1 | c.*16G>A (n.*16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839110G>A | CA6357372 | KCNJ1 | c.*15C>T (n.*15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839110G= | CA2008286029 | KCNJ1 | c.*15C= (n.*15C=) | |
11 | g.128839110G>T | CA477702500 | KCNJ1 | c.*15C>A (n.*15C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839113G>T | CA2616771370 | KCNJ1 | c.*12C>A (n.*12C>A) | gnomAD v4 |
11 | g.128839115A>G | CA2616771371 | KCNJ1 | c.*10T>C (n.*10T>C) | gnomAD v4 |
11 | g.128839116A= | CA2008286032 | KCNJ1 | c.*9T= (n.*9T=) | |
11 | g.128839116A>G | CA6357373 | KCNJ1 | c.*9T>C (n.*9T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839118del | CA2616771372 | KCNJ1 | c.*7del (n.*7del) | gnomAD v4 |
11 | g.128839118G>A | CA6357374 | KCNJ1 | c.*7C>T (n.*7C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839118G= | CA2008286034 | KCNJ1 | c.*7C= (n.*7C=) | |
11 | g.128839118G>T | CA673265635 | KCNJ1 | c.*7C>A (n.*7C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839120C= | CA2008286036 | KCNJ1 | c.*5G= (n.*5G=) | |
11 | g.128839120C>T | CA216031 | KCNJ1 | c.*5G>A (n.*5G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.128839121A>G | CA2794083154 | KCNJ1 | c.*4T>C (n.*4T>C) | |
11 | g.128839123T>A | CA673265639 | KCNJ1 | c.*2A>T (n.*2A>T) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839123T>C | CA2794083155 | KCNJ1 | c.*2A>G (n.*2A>G) | |
11 | g.128839123T>G | CA2616771373 | KCNJ1 | c.*2A>C (n.*2A>C) | gnomAD v4 |
11 | g.128839123T= | CA2008286038 | KCNJ1 | c.*2A= (n.*2A=) | |
11 | g.128839124G>A | CA6357376 | KCNJ1 | c.*1C>T (n.*1C>T) | dbSNP ExAC gnomAD v2 |
11 | g.128839124G>C | CA6357375 | KCNJ1 | c.*1C>G (n.*1C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839124G= | CA2008286040 | KCNJ1 | c.*1C= (n.*1C=) | |
11 | g.128839125T>A | CA383242504 | KCNJ1 | c.1119A>T (p.Ter373Tyr) c.1176A>T (p.Ter392Tyr) c.1170A>T (p.Ter390Tyr) | |
11 | g.128839125T>C | CA477702503 | KCNJ1 | c.1119A>G (p.Ter373=) c.1176A>G (p.Ter392=) c.1170A>G (p.Ter390=) | |
11 | g.128839125T>G | CA383242506 | KCNJ1 | c.1119A>C (p.Ter373Tyr) c.1176A>C (p.Ter392Tyr) c.1170A>C (p.Ter390Tyr) | |
11 | g.128839125_128839126insAT | CA2531670958 | KCNJ1 | c.1119_*1insTA (n.1119_*1insTA) c.1176_*1insTA (n.1176_*1insTA) c.1170_*1insTA (n.1170_*1insTA) | |
11 | g.128839126T>A | CA383242508 | KCNJ1 | c.1118A>T (p.Ter373Leu) c.1175A>T (p.Ter392Leu) c.1169A>T (p.Ter390Leu) | |
11 | g.128839126T>C | CA477702506 | KCNJ1 | c.1118A>G (p.Ter373=) c.1175A>G (p.Ter392=) c.1169A>G (p.Ter390=) | |
11 | g.128839126T>G | CA383242513 | KCNJ1 | c.1118A>C (p.Ter373Ser) c.1175A>C (p.Ter392Ser) c.1169A>C (p.Ter390Ser) | |
11 | g.128839127A>C | CA383242516 | KCNJ1 | c.1117T>G (p.Ter373Glu) c.1174T>G (p.Ter392Glu) c.1168T>G (p.Ter390Glu) | |
11 | g.128839127A>G | CA383242520 | KCNJ1 | c.1117T>C (p.Ter373Gln) c.1174T>C (p.Ter392Gln) c.1168T>C (p.Ter390Gln) | gnomAD v4 |
11 | g.128839127A>T | CA383242518 | KCNJ1 | c.1117T>A (p.Ter373Lys) c.1174T>A (p.Ter392Lys) c.1168T>A (p.Ter390Lys) | |
11 | g.128839127_128839128insGAACGTG | CA2555380401 | KCNJ1 | c.1116_1117insCACGTTC (p.Ter373HisextTer11) c.1173_1174insCACGTTC (p.Ter392HisextTer11) c.1167_1168insCACGTTC (p.Ter390HisextTer11) | |
11 | g.128839128C>A | CA383242522 | KCNJ1 | c.1116G>T (p.Met372Ile) c.1173G>T (p.Met391Ile) c.1167G>T (p.Met389Ile) | |
11 | g.128839128C= | CA2008286046 | KCNJ1 | c.1116G= (p.Met372=) c.1173G= (p.Met391=) c.1167G= (p.Met389=) | |
11 | g.128839128C>G | CA383242525 | KCNJ1 | c.1116G>C (p.Met372Ile) c.1173G>C (p.Met391Ile) c.1167G>C (p.Met389Ile) | gnomAD v4 |
11 | g.128839128C>T | CA6357377 | KCNJ1 | c.1116G>A (p.Met372Ile) c.1173G>A (p.Met391Ile) c.1167G>A (p.Met389Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839129A>C | CA383242527 | KCNJ1 | c.1115T>G (p.Met372Arg) c.1172T>G (p.Met391Arg) c.1166T>G (p.Met389Arg) | |
11 | g.128839129A>G | CA383242530 | KCNJ1 | c.1115T>C (p.Met372Thr) c.1172T>C (p.Met391Thr) c.1166T>C (p.Met389Thr) | gnomAD v4 |
11 | g.128839129A>T | CA383242531 | KCNJ1 | c.1115T>A (p.Met372Lys) c.1172T>A (p.Met391Lys) c.1166T>A (p.Met389Lys) | |
11 | g.128839130T>A | CA383242534 | KCNJ1 | c.1114A>T (p.Met372Leu) c.1171A>T (p.Met391Leu) c.1165A>T (p.Met389Leu) | |
11 | g.128839130T>C | CA383242536 | KCNJ1 | c.1114A>G (p.Met372Val) c.1171A>G (p.Met391Val) c.1165A>G (p.Met389Val) | gnomAD v4 |
11 | g.128839130T>G | CA383242538 | KCNJ1 | c.1114A>C (p.Met372Leu) c.1171A>C (p.Met391Leu) c.1165A>C (p.Met389Leu) | |
11 | g.128839131T>A | CA383242542 | KCNJ1 | c.1113A>T (p.Lys371Asn) c.1170A>T (p.Lys390Asn) c.1164A>T (p.Lys388Asn) | gnomAD v4 |
11 | g.128839131T>C | CA477702514 | KCNJ1 | c.1113A>G (p.Lys371=) c.1170A>G (p.Lys390=) c.1164A>G (p.Lys388=) | |
11 | g.128839131T>G | CA383242540 | KCNJ1 | c.1113A>C (p.Lys371Asn) c.1170A>C (p.Lys390Asn) c.1164A>C (p.Lys388Asn) | |
11 | g.128839132T>A | CA383242545 | KCNJ1 | c.1112A>T (p.Lys371Ile) c.1169A>T (p.Lys390Ile) c.1163A>T (p.Lys388Ile) | |
11 | g.128839132T>C | CA383242546 | KCNJ1 | c.1112A>G (p.Lys371Arg) c.1169A>G (p.Lys390Arg) c.1163A>G (p.Lys388Arg) | |
11 | g.128839132T>G | CA6357378 | KCNJ1 | c.1112A>C (p.Lys371Thr) c.1169A>C (p.Lys390Thr) c.1163A>C (p.Lys388Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839132T= | CA2008286051 | KCNJ1 | c.1112A= (p.Lys371=) c.1169A= (p.Lys390=) c.1163A= (p.Lys388=) | |
11 | g.128839133T>A | CA383242548 | KCNJ1 | c.1111A>T (p.Lys371Ter) c.1168A>T (p.Lys390Ter) c.1162A>T (p.Lys388Ter) | |
11 | g.128839133T>C | CA383242549 | KCNJ1 | c.1111A>G (p.Lys371Glu) c.1168A>G (p.Lys390Glu) c.1162A>G (p.Lys388Glu) | |
11 | g.128839133T>G | CA383242550 | KCNJ1 | c.1111A>C (p.Lys371Gln) c.1168A>C (p.Lys390Gln) c.1162A>C (p.Lys388Gln) | |
11 | g.128839134G>A | CA477702519 | KCNJ1 | c.1110C>T (p.Thr370=) c.1167C>T (p.Thr389=) c.1161C>T (p.Thr387=) | dbSNP |
11 | g.128839134G>C | CA477702518 | KCNJ1 | c.1110C>G (p.Thr370=) c.1167C>G (p.Thr389=) c.1161C>G (p.Thr387=) | |
11 | g.128839134G= | CA2008286055 | KCNJ1 | c.1110C= (p.Thr370=) c.1167C= (p.Thr389=) c.1161C= (p.Thr387=) | |
11 | g.128839134G>T | CA477702517 | KCNJ1 | c.1110C>A (p.Thr370=) c.1167C>A (p.Thr389=) c.1161C>A (p.Thr387=) | |
11 | g.128839135G>A | CA383242553 | KCNJ1 | c.1109C>T (p.Thr370Ile) c.1166C>T (p.Thr389Ile) c.1160C>T (p.Thr387Ile) | |
11 | g.128839135G>C | CA383242557 | KCNJ1 | c.1109C>G (p.Thr370Ser) c.1166C>G (p.Thr389Ser) c.1160C>G (p.Thr387Ser) | |
11 | g.128839135G>T | CA383242555 | KCNJ1 | c.1109C>A (p.Thr370Asn) c.1166C>A (p.Thr389Asn) c.1160C>A (p.Thr387Asn) | |
11 | g.128839136T>A | CA383242559 | KCNJ1 | c.1108A>T (p.Thr370Ser) c.1165A>T (p.Thr389Ser) c.1159A>T (p.Thr387Ser) | |
11 | g.128839136T>C | CA383242561 | KCNJ1 | c.1108A>G (p.Thr370Ala) c.1165A>G (p.Thr389Ala) c.1159A>G (p.Thr387Ala) | |
11 | g.128839136T>G | CA383242563 | KCNJ1 | c.1108A>C (p.Thr370Pro) c.1165A>C (p.Thr389Pro) c.1159A>C (p.Thr387Pro) | gnomAD v4 |
11 | g.128839137G>A | CA477702521 | KCNJ1 | c.1107C>T (p.Asp369=) c.1164C>T (p.Asp388=) c.1158C>T (p.Asp386=) | |
11 | g.128839137G>C | CA383242565 | KCNJ1 | c.1107C>G (p.Asp369Glu) c.1164C>G (p.Asp388Glu) c.1158C>G (p.Asp386Glu) | |
11 | g.128839137G>T | CA383242567 | KCNJ1 | c.1107C>A (p.Asp369Glu) c.1164C>A (p.Asp388Glu) c.1158C>A (p.Asp386Glu) | |
11 | g.128839138T>A | CA383242570 | KCNJ1 | c.1106A>T (p.Asp369Val) c.1163A>T (p.Asp388Val) c.1157A>T (p.Asp386Val) | |
11 | g.128839138T>C | CA383242571 | KCNJ1 | c.1106A>G (p.Asp369Gly) c.1163A>G (p.Asp388Gly) c.1157A>G (p.Asp386Gly) | |
11 | g.128839138T>G | CA383242572 | KCNJ1 | c.1106A>C (p.Asp369Ala) c.1163A>C (p.Asp388Ala) c.1157A>C (p.Asp386Ala) | |
11 | g.128839139C>A | CA383242575 | KCNJ1 | c.1105G>T (p.Asp369Tyr) c.1162G>T (p.Asp388Tyr) c.1156G>T (p.Asp386Tyr) | |
11 | g.128839139C>G | CA383242576 | KCNJ1 | c.1105G>C (p.Asp369His) c.1162G>C (p.Asp388His) c.1156G>C (p.Asp386His) | |
11 | g.128839139C>T | CA383242578 | KCNJ1 | c.1105G>A (p.Asp369Asn) c.1162G>A (p.Asp388Asn) c.1156G>A (p.Asp386Asn) | |
11 | g.128839140A>C | CA383242580 | KCNJ1 | c.1104T>G (p.Asp368Glu) c.1161T>G (p.Asp387Glu) c.1155T>G (p.Asp385Glu) | |
11 | g.128839140A>G | CA477702525 | KCNJ1 | c.1104T>C (p.Asp368=) c.1161T>C (p.Asp387=) c.1155T>C (p.Asp385=) | |
11 | g.128839140A>T | CA383242582 | KCNJ1 | c.1104T>A (p.Asp368Glu) c.1161T>A (p.Asp387Glu) c.1155T>A (p.Asp385Glu) | |
11 | g.128839141T>A | CA383242585 | KCNJ1 | c.1103A>T (p.Asp368Val) c.1160A>T (p.Asp387Val) c.1154A>T (p.Asp385Val) | dbSNP |
11 | g.128839141T>C | CA383242586 | KCNJ1 | c.1103A>G (p.Asp368Gly) c.1160A>G (p.Asp387Gly) c.1154A>G (p.Asp385Gly) | |
11 | g.128839141T>G | CA383242588 | KCNJ1 | c.1103A>C (p.Asp368Ala) c.1160A>C (p.Asp387Ala) c.1154A>C (p.Asp385Ala) | dbSNP |
11 | g.128839141T= | CA2008286057 | KCNJ1 | c.1103A= (p.Asp368=) c.1160A= (p.Asp387=) c.1154A= (p.Asp385=) | |
11 | g.128839142C>A | CA383242590 | KCNJ1 | c.1102G>T (p.Asp368Tyr) c.1159G>T (p.Asp387Tyr) c.1153G>T (p.Asp385Tyr) | |
11 | g.128839142C= | CA2008286059 | KCNJ1 | c.1102G= (p.Asp368=) c.1159G= (p.Asp387=) c.1153G= (p.Asp385=) | |
11 | g.128839142C>G | CA383242591 | KCNJ1 | c.1102G>C (p.Asp368His) c.1159G>C (p.Asp387His) c.1153G>C (p.Asp385His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839142C>T | CA383242593 | KCNJ1 | c.1102G>A (p.Asp368Asn) c.1159G>A (p.Asp387Asn) c.1153G>A (p.Asp385Asn) | |
11 | g.128839143T>A | CA477702526 | KCNJ1 | c.1101A>T (p.Thr367=) c.1158A>T (p.Thr386=) c.1152A>T (p.Thr384=) | |
11 | g.128839143T>C | CA230627521 | KCNJ1 | c.1101A>G (p.Thr367=) c.1158A>G (p.Thr386=) c.1152A>G (p.Thr384=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839143T>G | CA477702527 | KCNJ1 | c.1101A>C (p.Thr367=) c.1158A>C (p.Thr386=) c.1152A>C (p.Thr384=) | |
11 | g.128839143T= | CA2008286062 | KCNJ1 | c.1101A= (p.Thr367=) c.1158A= (p.Thr386=) c.1152A= (p.Thr384=) | |
11 | g.128839144G>A | CA230627528 | KCNJ1 | c.1100C>T (p.Thr367Ile) c.1157C>T (p.Thr386Ile) c.1151C>T (p.Thr384Ile) | dbSNP gnomAD v4 COSMIC |
11 | g.128839144G>C | CA383242596 | KCNJ1 | c.1100C>G (p.Thr367Arg) c.1157C>G (p.Thr386Arg) c.1151C>G (p.Thr384Arg) | gnomAD v4 |
11 | g.128839144G= | CA2008286064 | KCNJ1 | c.1100C= (p.Thr367=) c.1157C= (p.Thr386=) c.1151C= (p.Thr384=) | |
11 | g.128839144G>T | CA383242598 | KCNJ1 | c.1100C>A (p.Thr367Lys) c.1157C>A (p.Thr386Lys) c.1151C>A (p.Thr384Lys) | |
11 | g.128839145T>A | CA383242601 | KCNJ1 | c.1099A>T (p.Thr367Ser) c.1156A>T (p.Thr386Ser) c.1150A>T (p.Thr384Ser) | gnomAD v4 |
11 | g.128839145T>C | CA383242603 | KCNJ1 | c.1099A>G (p.Thr367Ala) c.1156A>G (p.Thr386Ala) c.1150A>G (p.Thr384Ala) | |
11 | g.128839145T>G | CA383242605 | KCNJ1 | c.1099A>C (p.Thr367Pro) c.1156A>C (p.Thr386Pro) c.1150A>C (p.Thr384Pro) | |
11 | g.128839146T>A | CA383242607 | KCNJ1 | c.1098A>T (p.Glu366Asp) c.1155A>T (p.Glu385Asp) c.1149A>T (p.Glu383Asp) | |
11 | g.128839146T>C | CA477702641 | KCNJ1 | c.1098A>G (p.Glu366=) c.1155A>G (p.Glu385=) c.1149A>G (p.Glu383=) | |
11 | g.128839146T>G | CA383242609 | KCNJ1 | c.1098A>C (p.Glu366Asp) c.1155A>C (p.Glu385Asp) c.1149A>C (p.Glu383Asp) | |
11 | g.128839147T>A | CA383242612 | KCNJ1 | c.1097A>T (p.Glu366Val) c.1154A>T (p.Glu385Val) c.1148A>T (p.Glu383Val) | |
11 | g.128839147T>C | CA383242615 | KCNJ1 | c.1097A>G (p.Glu366Gly) c.1154A>G (p.Glu385Gly) c.1148A>G (p.Glu383Gly) | |
11 | g.128839147T>G | CA383242613 | KCNJ1 | c.1097A>C (p.Glu366Ala) c.1154A>C (p.Glu385Ala) c.1148A>C (p.Glu383Ala) | |
11 | g.128839148C>A | CA383242616 | KCNJ1 | c.1096G>T (p.Glu366Ter) c.1153G>T (p.Glu385Ter) c.1147G>T (p.Glu383Ter) | |
11 | g.128839148C>G | CA383242617 | KCNJ1 | c.1096G>C (p.Glu366Gln) c.1153G>C (p.Glu385Gln) c.1147G>C (p.Glu383Gln) | |
11 | g.128839148C>T | CA383242619 | KCNJ1 | c.1096G>A (p.Glu366Lys) c.1153G>A (p.Glu385Lys) c.1147G>A (p.Glu383Lys) | |
11 | g.128839149A= | CA2008286068 | KCNJ1 | c.1095T= (p.Asn365=) c.1152T= (p.Asn384=) c.1146T= (p.Asn382=) | |
11 | g.128839149A>C | CA383242620 | KCNJ1 | c.1095T>G (p.Asn365Lys) c.1152T>G (p.Asn384Lys) c.1146T>G (p.Asn382Lys) | |
11 | g.128839149A>G | CA477702643 | KCNJ1 | c.1095T>C (p.Asn365=) c.1152T>C (p.Asn384=) c.1146T>C (p.Asn382=) | dbSNP gnomAD v4 |
11 | g.128839149A>T | CA383242622 | KCNJ1 | c.1095T>A (p.Asn365Lys) c.1152T>A (p.Asn384Lys) c.1146T>A (p.Asn382Lys) | |
11 | g.128839150T>A | CA174855 | KCNJ1 | c.1094A>T (p.Asn365Ile) c.1151A>T (p.Asn384Ile) c.1145A>T (p.Asn382Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839150T>C | CA230627540 | KCNJ1 | c.1094A>G (p.Asn365Ser) c.1151A>G (p.Asn384Ser) c.1145A>G (p.Asn382Ser) | dbSNP gnomAD v4 |
11 | g.128839150T>G | CA383242626 | KCNJ1 | c.1094A>C (p.Asn365Thr) c.1151A>C (p.Asn384Thr) c.1145A>C (p.Asn382Thr) | |
11 | g.128839150T= | CA2008286072 | KCNJ1 | c.1094A= (p.Asn365=) c.1151A= (p.Asn384=) c.1145A= (p.Asn382=) | |
11 | g.128839151T>A | CA383242629 | KCNJ1 | c.1093A>T (p.Asn365Tyr) c.1150A>T (p.Asn384Tyr) c.1144A>T (p.Asn382Tyr) | |
11 | g.128839151T>C | CA383242631 | KCNJ1 | c.1093A>G (p.Asn365Asp) c.1150A>G (p.Asn384Asp) c.1144A>G (p.Asn382Asp) | |
11 | g.128839151T>G | CA383242633 | KCNJ1 | c.1093A>C (p.Asn365His) c.1150A>C (p.Asn384His) c.1144A>C (p.Asn382His) | |
11 | g.128839152G>A | CA477702649 | KCNJ1 | c.1092C>T (p.Val364=) c.1149C>T (p.Val383=) c.1143C>T (p.Val381=) | |
11 | g.128839152G>C | CA477702650 | KCNJ1 | c.1092C>G (p.Val364=) c.1149C>G (p.Val383=) c.1143C>G (p.Val381=) | |
11 | g.128839152G>T | CA477702651 | KCNJ1 | c.1092C>A (p.Val364=) c.1149C>A (p.Val383=) c.1143C>A (p.Val381=) | |
11 | g.128839153A>C | CA383242635 | KCNJ1 | c.1091T>G (p.Val364Gly) c.1148T>G (p.Val383Gly) c.1142T>G (p.Val381Gly) | gnomAD v4 |
11 | g.128839153A>G | CA383242639 | KCNJ1 | c.1091T>C (p.Val364Ala) c.1148T>C (p.Val383Ala) c.1142T>C (p.Val381Ala) | |
11 | g.128839153A>T | CA383242637 | KCNJ1 | c.1091T>A (p.Val364Asp) c.1148T>A (p.Val383Asp) c.1142T>A (p.Val381Asp) | |
11 | g.128839154C>A | CA383242641 | KCNJ1 | c.1090G>T (p.Val364Phe) c.1147G>T (p.Val383Phe) c.1141G>T (p.Val381Phe) | |
11 | g.128839154C= | CA2008286078 | KCNJ1 | c.1090G= (p.Val364=) c.1147G= (p.Val383=) c.1141G= (p.Val381=) | |
11 | g.128839154C>G | CA383242644 | KCNJ1 | c.1090G>C (p.Val364Leu) c.1147G>C (p.Val383Leu) c.1141G>C (p.Val381Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839154C>T | CA383242643 | KCNJ1 | c.1090G>A (p.Val364Ile) c.1147G>A (p.Val383Ile) c.1141G>A (p.Val381Ile) | |
11 | g.128839155T>A | CA383242647 | KCNJ1 | c.1089A>T (p.Glu363Asp) c.1146A>T (p.Glu382Asp) c.1140A>T (p.Glu380Asp) | |
11 | g.128839155T>C | CA477702655 | KCNJ1 | c.1089A>G (p.Glu363=) c.1146A>G (p.Glu382=) c.1140A>G (p.Glu380=) | |
11 | g.128839155T>G | CA383242649 | KCNJ1 | c.1089A>C (p.Glu363Asp) c.1146A>C (p.Glu382Asp) c.1140A>C (p.Glu380Asp) | |
11 | g.128839156T>A | CA383242651 | KCNJ1 | c.1088A>T (p.Glu363Val) c.1145A>T (p.Glu382Val) c.1139A>T (p.Glu380Val) | |
11 | g.128839156T>C | CA383242653 | KCNJ1 | c.1088A>G (p.Glu363Gly) c.1145A>G (p.Glu382Gly) c.1139A>G (p.Glu380Gly) | |
11 | g.128839156T>G | CA383242655 | KCNJ1 | c.1088A>C (p.Glu363Ala) c.1145A>C (p.Glu382Ala) c.1139A>C (p.Glu380Ala) | |
11 | g.128839157C>A | CA383242658 | KCNJ1 | c.1087G>T (p.Glu363Ter) c.1144G>T (p.Glu382Ter) c.1138G>T (p.Glu380Ter) | |
11 | g.128839157C>G | CA383242660 | KCNJ1 | c.1087G>C (p.Glu363Gln) c.1144G>C (p.Glu382Gln) c.1138G>C (p.Glu380Gln) | |
11 | g.128839157C>T | CA383242661 | KCNJ1 | c.1087G>A (p.Glu363Lys) c.1144G>A (p.Glu382Lys) c.1138G>A (p.Glu380Lys) | gnomAD v4 |
11 | g.128839158T>A | CA477702657 | KCNJ1 | c.1086A>T (p.Ser362=) c.1143A>T (p.Ser381=) c.1137A>T (p.Ser379=) | |
11 | g.128839158T>C | CA6357379 | KCNJ1 | c.1086A>G (p.Ser362=) c.1143A>G (p.Ser381=) c.1137A>G (p.Ser379=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839158T>G | CA477702659 | KCNJ1 | c.1086A>C (p.Ser362=) c.1143A>C (p.Ser381=) c.1137A>C (p.Ser379=) | |
11 | g.128839158T= | CA2008286081 | KCNJ1 | c.1086A= (p.Ser362=) c.1143A= (p.Ser381=) c.1137A= (p.Ser379=) | |
11 | g.128839159G>A | CA383242664 | KCNJ1 | c.1085C>T (p.Ser362Leu) c.1142C>T (p.Ser381Leu) c.1136C>T (p.Ser379Leu) | |
11 | g.128839159G>C | CA383242667 | KCNJ1 | c.1085C>G (p.Ser362Ter) c.1142C>G (p.Ser381Ter) c.1136C>G (p.Ser379Ter) | dbSNP gnomAD v4 |
11 | g.128839159G= | CA2008286082 | KCNJ1 | c.1085C= (p.Ser362=) c.1142C= (p.Ser381=) c.1136C= (p.Ser379=) | |
11 | g.128839159G>T | CA383242669 | KCNJ1 | c.1085C>A (p.Ser362Ter) c.1142C>A (p.Ser381Ter) c.1136C>A (p.Ser379Ter) | |
11 | g.128839160A>C | CA383242671 | KCNJ1 | c.1084T>G (p.Ser362Ala) c.1141T>G (p.Ser381Ala) c.1135T>G (p.Ser379Ala) | |
11 | g.128839160A>G | CA383242674 | KCNJ1 | c.1084T>C (p.Ser362Pro) c.1141T>C (p.Ser381Pro) c.1135T>C (p.Ser379Pro) | |
11 | g.128839160A>T | CA383242673 | KCNJ1 | c.1084T>A (p.Ser362Thr) c.1141T>A (p.Ser381Thr) c.1135T>A (p.Ser379Thr) | gnomAD v4 |
11 | g.128839161C>A | CA383242675 | KCNJ1 | c.1083G>T (p.Leu361Phe) c.1140G>T (p.Leu380Phe) c.1134G>T (p.Leu378Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839161C= | CA2008286083 | KCNJ1 | c.1083G= (p.Leu361=) c.1140G= (p.Leu380=) c.1134G= (p.Leu378=) | |
11 | g.128839161C>G | CA383242676 | KCNJ1 | c.1083G>C (p.Leu361Phe) c.1140G>C (p.Leu380Phe) c.1134G>C (p.Leu378Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839161C>T | CA6357380 | KCNJ1 | c.1083G>A (p.Leu361=) c.1140G>A (p.Leu380=) c.1134G>A (p.Leu378=) | dbSNP ExAC gnomAD v4 COSMIC |
11 | g.128839162A>C | CA383242678 | KCNJ1 | c.1082T>G (p.Leu361Trp) c.1139T>G (p.Leu380Trp) c.1133T>G (p.Leu378Trp) | |
11 | g.128839162A>G | CA383242680 | KCNJ1 | c.1082T>C (p.Leu361Ser) c.1139T>C (p.Leu380Ser) c.1133T>C (p.Leu378Ser) | |
11 | g.128839162A>T | CA383242681 | KCNJ1 | c.1082T>A (p.Leu361Ter) c.1139T>A (p.Leu380Ter) c.1133T>A (p.Leu378Ter) | |
11 | g.128839163A>C | CA383242682 | KCNJ1 | c.1081T>G (p.Leu361Val) c.1138T>G (p.Leu380Val) c.1132T>G (p.Leu378Val) | |
11 | g.128839163A>G | CA477702666 | KCNJ1 | c.1081T>C (p.Leu361=) c.1138T>C (p.Leu380=) c.1132T>C (p.Leu378=) | |
11 | g.128839163A>T | CA383242683 | KCNJ1 | c.1081T>A (p.Leu361Met) c.1138T>A (p.Leu380Met) c.1132T>A (p.Leu378Met) | |
11 | g.128839164G>A | CA477702667 | KCNJ1 | c.1080C>T (p.Ile360=) c.1137C>T (p.Ile379=) c.1131C>T (p.Ile377=) | gnomAD v4 |
11 | g.128839164G>C | CA383242685 | KCNJ1 | c.1080C>G (p.Ile360Met) c.1137C>G (p.Ile379Met) c.1131C>G (p.Ile377Met) | |
11 | g.128839164G>T | CA477702669 | KCNJ1 | c.1080C>A (p.Ile360=) c.1137C>A (p.Ile379=) c.1131C>A (p.Ile377=) | |
11 | g.128839165A= | CA2008286084 | KCNJ1 | c.1079T= (p.Ile360=) c.1136T= (p.Ile379=) c.1130T= (p.Ile377=) | |
11 | g.128839165A>C | CA383242689 | KCNJ1 | c.1079T>G (p.Ile360Ser) c.1136T>G (p.Ile379Ser) c.1130T>G (p.Ile377Ser) | |
11 | g.128839165A>G | CA6357381 | KCNJ1 | c.1079T>C (p.Ile360Thr) c.1136T>C (p.Ile379Thr) c.1130T>C (p.Ile377Thr) | dbSNP ExAC |
11 | g.128839165A>T | CA383242687 | KCNJ1 | c.1079T>A (p.Ile360Asn) c.1136T>A (p.Ile379Asn) c.1130T>A (p.Ile377Asn) | |
11 | g.128839166T>A | CA383242693 | KCNJ1 | c.1078A>T (p.Ile360Phe) c.1135A>T (p.Ile379Phe) c.1129A>T (p.Ile377Phe) | |
11 | g.128839166T>C | CA383242694 | KCNJ1 | c.1078A>G (p.Ile360Val) c.1135A>G (p.Ile379Val) c.1129A>G (p.Ile377Val) | dbSNP |
11 | g.128839166T>G | CA383242696 | KCNJ1 | c.1078A>C (p.Ile360Leu) c.1135A>C (p.Ile379Leu) c.1129A>C (p.Ile377Leu) | |
11 | g.128839166T= | CA2008286086 | KCNJ1 | c.1078A= (p.Ile360=) c.1135A= (p.Ile379=) c.1129A= (p.Ile377=) | |
11 | g.128839167G>A | CA477702672 | KCNJ1 | c.1077C>T (p.Phe359=) c.1134C>T (p.Phe378=) c.1128C>T (p.Phe376=) | |
11 | g.128839167G>C | CA383242699 | KCNJ1 | c.1077C>G (p.Phe359Leu) c.1134C>G (p.Phe378Leu) c.1128C>G (p.Phe376Leu) | |
11 | g.128839167G= | CA2008286087 | KCNJ1 | c.1077C= (p.Phe359=) c.1134C= (p.Phe378=) c.1128C= (p.Phe376=) | |
11 | g.128839167G>T | CA383242700 | KCNJ1 | c.1077C>A (p.Phe359Leu) c.1134C>A (p.Phe378Leu) c.1128C>A (p.Phe376Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839168A>C | CA383242706 | KCNJ1 | c.1076T>G (p.Phe359Cys) c.1133T>G (p.Phe378Cys) c.1127T>G (p.Phe376Cys) | |
11 | g.128839168A>G | CA383242705 | KCNJ1 | c.1076T>C (p.Phe359Ser) c.1133T>C (p.Phe378Ser) c.1127T>C (p.Phe376Ser) | |
11 | g.128839168A>T | CA383242703 | KCNJ1 | c.1076T>A (p.Phe359Tyr) c.1133T>A (p.Phe378Tyr) c.1127T>A (p.Phe376Tyr) | |
11 | g.128839169A>C | CA383242707 | KCNJ1 | c.1075T>G (p.Phe359Val) c.1132T>G (p.Phe378Val) c.1126T>G (p.Phe376Val) | |
11 | g.128839169A>G | CA383242709 | KCNJ1 | c.1075T>C (p.Phe359Leu) c.1132T>C (p.Phe378Leu) c.1126T>C (p.Phe376Leu) | |
11 | g.128839169A>T | CA383242711 | KCNJ1 | c.1075T>A (p.Phe359Ile) c.1132T>A (p.Phe378Ile) c.1126T>A (p.Phe376Ile) | |
11 | g.128839170G>A | CA6357382 | KCNJ1 | c.1074C>T (p.Asn358=) c.1131C>T (p.Asn377=) c.1125C>T (p.Asn375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839170G>C | CA383242714 | KCNJ1 | c.1074C>G (p.Asn358Lys) c.1131C>G (p.Asn377Lys) c.1125C>G (p.Asn375Lys) | dbSNP |
11 | g.128839170G= | CA2008286088 | KCNJ1 | c.1074C= (p.Asn358=) c.1131C= (p.Asn377=) c.1125C= (p.Asn375=) | |
11 | g.128839170G>T | CA6357383 | KCNJ1 | c.1074C>A (p.Asn358Lys) c.1131C>A (p.Asn377Lys) c.1125C>A (p.Asn375Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839171T>A | CA383242716 | KCNJ1 | c.1073A>T (p.Asn358Ile) c.1130A>T (p.Asn377Ile) c.1124A>T (p.Asn375Ile) | |
11 | g.128839171T>C | CA383242719 | KCNJ1 | c.1073A>G (p.Asn358Ser) c.1130A>G (p.Asn377Ser) c.1124A>G (p.Asn375Ser) | gnomAD v4 |
11 | g.128839171T>G | CA383242717 | KCNJ1 | c.1073A>C (p.Asn358Thr) c.1130A>C (p.Asn377Thr) c.1124A>C (p.Asn375Thr) | |
11 | g.128839172T>A | CA383242721 | KCNJ1 | c.1072A>T (p.Asn358Tyr) c.1129A>T (p.Asn377Tyr) c.1123A>T (p.Asn375Tyr) | |
11 | g.128839172T>C | CA383242722 | KCNJ1 | c.1072A>G (p.Asn358Asp) c.1129A>G (p.Asn377Asp) c.1123A>G (p.Asn375Asp) | |
11 | g.128839172T>G | CA383242724 | KCNJ1 | c.1072A>C (p.Asn358His) c.1129A>C (p.Asn377His) c.1123A>C (p.Asn375His) | |
11 | g.128839173G>A | CA477702675 | KCNJ1 | c.1071C>T (p.Pro357=) c.1128C>T (p.Pro376=) c.1122C>T (p.Pro374=) | gnomAD v4 |
11 | g.128839173G>C | CA477702676 | KCNJ1 | c.1071C>G (p.Pro357=) c.1128C>G (p.Pro376=) c.1122C>G (p.Pro374=) | |
11 | g.128839173G>T | CA477702678 | KCNJ1 | c.1071C>A (p.Pro357=) c.1128C>A (p.Pro376=) c.1122C>A (p.Pro374=) | |
11 | g.128839174G>A | CA383242726 | KCNJ1 | c.1070C>T (p.Pro357Leu) c.1127C>T (p.Pro376Leu) c.1121C>T (p.Pro374Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839174G>C | CA383242728 | KCNJ1 | c.1070C>G (p.Pro357Arg) c.1127C>G (p.Pro376Arg) c.1121C>G (p.Pro374Arg) | |
11 | g.128839174G= | CA2008286094 | KCNJ1 | c.1070C= (p.Pro357=) c.1127C= (p.Pro376=) c.1121C= (p.Pro374=) | |
11 | g.128839174G>T | CA383242730 | KCNJ1 | c.1070C>A (p.Pro357His) c.1127C>A (p.Pro376His) c.1121C>A (p.Pro374His) | |
11 | g.128839175G>A | CA383242732 | KCNJ1 | c.1069C>T (p.Pro357Ser) c.1126C>T (p.Pro376Ser) c.1120C>T (p.Pro374Ser) | |
11 | g.128839175G>C | CA383242734 | KCNJ1 | c.1069C>G (p.Pro357Ala) c.1126C>G (p.Pro376Ala) c.1120C>G (p.Pro374Ala) | |
11 | g.128839175G>T | CA383242736 | KCNJ1 | c.1069C>A (p.Pro357Thr) c.1126C>A (p.Pro376Thr) c.1120C>A (p.Pro374Thr) | |
11 | g.128839176G>A | CA477702681 | KCNJ1 | c.1068C>T (p.Asn356=) c.1125C>T (p.Asn375=) c.1119C>T (p.Asn373=) | gnomAD v4 |
11 | g.128839176G>C | CA383242738 | KCNJ1 | c.1068C>G (p.Asn356Lys) c.1125C>G (p.Asn375Lys) c.1119C>G (p.Asn373Lys) | |
11 | g.128839176G>T | CA383242739 | KCNJ1 | c.1068C>A (p.Asn356Lys) c.1125C>A (p.Asn375Lys) c.1119C>A (p.Asn373Lys) | gnomAD v4 |
11 | g.128839177T>A | CA383242746 | KCNJ1 | c.1067A>T (p.Asn356Ile) c.1124A>T (p.Asn375Ile) c.1118A>T (p.Asn373Ile) | |
11 | g.128839177T>C | CA383242744 | KCNJ1 | c.1067A>G (p.Asn356Ser) c.1124A>G (p.Asn375Ser) c.1118A>G (p.Asn373Ser) | |
11 | g.128839177T>G | CA383242742 | KCNJ1 | c.1067A>C (p.Asn356Thr) c.1124A>C (p.Asn375Thr) c.1118A>C (p.Asn373Thr) | |
11 | g.128839178T>A | CA383242749 | KCNJ1 | c.1066A>T (p.Asn356Tyr) c.1123A>T (p.Asn375Tyr) c.1117A>T (p.Asn373Tyr) | |
11 | g.128839178T>C | CA383242752 | KCNJ1 | c.1066A>G (p.Asn356Asp) c.1123A>G (p.Asn375Asp) c.1117A>G (p.Asn373Asp) | |
11 | g.128839178T>G | CA383242750 | KCNJ1 | c.1066A>C (p.Asn356His) c.1123A>C (p.Asn375His) c.1117A>C (p.Asn373His) | |
11 | g.128839179G>A | CA6357384 | KCNJ1 | c.1065C>T (p.Asp355=) c.1122C>T (p.Asp374=) c.1116C>T (p.Asp372=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839179G>C | CA383242757 | KCNJ1 | c.1065C>G (p.Asp355Glu) c.1122C>G (p.Asp374Glu) c.1116C>G (p.Asp372Glu) | |
11 | g.128839179G= | CA2008286097 | KCNJ1 | c.1065C= (p.Asp355=) c.1122C= (p.Asp374=) c.1116C= (p.Asp372=) | |
11 | g.128839179G>T | CA383242755 | KCNJ1 | c.1065C>A (p.Asp355Glu) c.1122C>A (p.Asp374Glu) c.1116C>A (p.Asp372Glu) | |
11 | g.128839180T>A | CA383242760 | KCNJ1 | c.1064A>T (p.Asp355Val) c.1121A>T (p.Asp374Val) c.1115A>T (p.Asp372Val) | |
11 | g.128839180T>C | CA383242764 | KCNJ1 | c.1064A>G (p.Asp355Gly) c.1121A>G (p.Asp374Gly) c.1115A>G (p.Asp372Gly) | |
11 | g.128839180T>G | CA383242762 | KCNJ1 | c.1064A>C (p.Asp355Ala) c.1121A>C (p.Asp374Ala) c.1115A>C (p.Asp372Ala) | |
11 | g.128839181C>A | CA383242766 | KCNJ1 | c.1063G>T (p.Asp355Tyr) c.1120G>T (p.Asp374Tyr) c.1114G>T (p.Asp372Tyr) | |
11 | g.128839181C>G | CA383242768 | KCNJ1 | c.1063G>C (p.Asp355His) c.1120G>C (p.Asp374His) c.1114G>C (p.Asp372His) | |
11 | g.128839181C>T | CA383242770 | KCNJ1 | c.1063G>A (p.Asp355Asn) c.1120G>A (p.Asp374Asn) c.1114G>A (p.Asp372Asn) | |
11 | g.128839182A= | CA2008286099 | KCNJ1 | c.1062T= (p.Tyr354=) c.1119T= (p.Tyr373=) c.1113T= (p.Tyr371=) | |
11 | g.128839182A>C | CA383242772 | KCNJ1 | c.1062T>G (p.Tyr354Ter) c.1119T>G (p.Tyr373Ter) c.1113T>G (p.Tyr371Ter) | |
11 | g.128839182A>G | CA230627601 | KCNJ1 | c.1062T>C (p.Tyr354=) c.1119T>C (p.Tyr373=) c.1113T>C (p.Tyr371=) | dbSNP gnomAD v4 |
11 | g.128839182A>T | CA383242774 | KCNJ1 | c.1062T>A (p.Tyr354Ter) c.1119T>A (p.Tyr373Ter) c.1113T>A (p.Tyr371Ter) | |
11 | g.128839183T>A | CA383242777 | KCNJ1 | c.1061A>T (p.Tyr354Phe) c.1118A>T (p.Tyr373Phe) c.1112A>T (p.Tyr371Phe) | |
11 | g.128839183T>C | CA6357385 | KCNJ1 | c.1061A>G (p.Tyr354Cys) c.1118A>G (p.Tyr373Cys) c.1112A>G (p.Tyr371Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839183T>G | CA383242779 | KCNJ1 | c.1061A>C (p.Tyr354Ser) c.1118A>C (p.Tyr373Ser) c.1112A>C (p.Tyr371Ser) | |
11 | g.128839183T= | CA2008286102 | KCNJ1 | c.1061A= (p.Tyr354=) c.1118A= (p.Tyr373=) c.1112A= (p.Tyr371=) | |
11 | g.128839184A>C | CA383242782 | KCNJ1 | c.1060T>G (p.Tyr354Asp) c.1117T>G (p.Tyr373Asp) c.1111T>G (p.Tyr371Asp) | |
11 | g.128839184A>G | CA383242784 | KCNJ1 | c.1060T>C (p.Tyr354His) c.1117T>C (p.Tyr373His) c.1111T>C (p.Tyr371His) | |
11 | g.128839184A>T | CA383242785 | KCNJ1 | c.1060T>A (p.Tyr354Asn) c.1117T>A (p.Tyr373Asn) c.1111T>A (p.Tyr371Asn) | |
11 | g.128839185G>A | CA477702686 | KCNJ1 | c.1059C>T (p.Gly353=) c.1116C>T (p.Gly372=) c.1110C>T (p.Gly370=) | dbSNP gnomAD v4 |
11 | g.128839185G>C | CA477702687 | KCNJ1 | c.1059C>G (p.Gly353=) c.1116C>G (p.Gly372=) c.1110C>G (p.Gly370=) | gnomAD v4 |
11 | g.128839185G= | CA2008286106 | KCNJ1 | c.1059C= (p.Gly353=) c.1116C= (p.Gly372=) c.1110C= (p.Gly370=) | |
11 | g.128839185G>T | CA477702688 | KCNJ1 | c.1059C>A (p.Gly353=) c.1116C>A (p.Gly372=) c.1110C>A (p.Gly370=) | |
11 | g.128839186C>A | CA383242792 | KCNJ1 | c.1058G>T (p.Gly353Val) c.1115G>T (p.Gly372Val) c.1109G>T (p.Gly370Val) | gnomAD v4 |
11 | g.128839186C>G | CA383242788 | KCNJ1 | c.1058G>C (p.Gly353Ala) c.1115G>C (p.Gly372Ala) c.1109G>C (p.Gly370Ala) | |
11 | g.128839186C>T | CA383242790 | KCNJ1 | c.1058G>A (p.Gly353Asp) c.1115G>A (p.Gly372Asp) c.1109G>A (p.Gly370Asp) | |
11 | g.128839187C>A | CA383242795 | KCNJ1 | c.1057G>T (p.Gly353Cys) c.1114G>T (p.Gly372Cys) c.1108G>T (p.Gly370Cys) | |
11 | g.128839187C= | CA2008286110 | KCNJ1 | c.1057G= (p.Gly353=) c.1114G= (p.Gly372=) c.1108G= (p.Gly370=) | |
11 | g.128839187C>G | CA383242796 | KCNJ1 | c.1057G>C (p.Gly353Arg) c.1114G>C (p.Gly372Arg) c.1108G>C (p.Gly370Arg) | |
11 | g.128839187C>T | CA383242799 | KCNJ1 | c.1057G>A (p.Gly353Ser) c.1114G>A (p.Gly372Ser) c.1108G>A (p.Gly370Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839188T>A | CA383242801 | KCNJ1 | c.1056A>T (p.Arg352Ser) c.1113A>T (p.Arg371Ser) c.1107A>T (p.Arg369Ser) | |
11 | g.128839188T>C | CA477702690 | KCNJ1 | c.1056A>G (p.Arg352=) c.1113A>G (p.Arg371=) c.1107A>G (p.Arg369=) | |
11 | g.128839188T>G | CA383242803 | KCNJ1 | c.1056A>C (p.Arg352Ser) c.1113A>C (p.Arg371Ser) c.1107A>C (p.Arg369Ser) | |
11 | g.128839189C>A | CA383242805 | KCNJ1 | c.1055G>T (p.Arg352Ile) c.1112G>T (p.Arg371Ile) c.1106G>T (p.Arg369Ile) | |
11 | g.128839189C= | CA2008286112 | KCNJ1 | c.1055G= (p.Arg352=) c.1112G= (p.Arg371=) c.1106G= (p.Arg369=) | |
11 | g.128839189C>G | CA383242807 | KCNJ1 | c.1055G>C (p.Arg352Thr) c.1112G>C (p.Arg371Thr) c.1106G>C (p.Arg369Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839189C>T | CA383242809 | KCNJ1 | c.1055G>A (p.Arg352Lys) c.1112G>A (p.Arg371Lys) c.1106G>A (p.Arg369Lys) | |
11 | g.128839190T>A | CA383242811 | KCNJ1 | c.1054A>T (p.Arg352Ter) c.1111A>T (p.Arg371Ter) c.1105A>T (p.Arg369Ter) | |
11 | g.128839190T>C | CA383242812 | KCNJ1 | c.1054A>G (p.Arg352Gly) c.1111A>G (p.Arg371Gly) c.1105A>G (p.Arg369Gly) | gnomAD v4 |
11 | g.128839190T>G | CA477702692 | KCNJ1 | c.1054A>C (p.Arg352=) c.1111A>C (p.Arg371=) c.1105A>C (p.Arg369=) | |
11 | g.128839191C>A | CA383242816 | KCNJ1 | c.1053G>T (p.Lys351Asn) c.1110G>T (p.Lys370Asn) c.1104G>T (p.Lys368Asn) | |
11 | g.128839191C= | CA2008286113 | KCNJ1 | c.1053G= (p.Lys351=) c.1110G= (p.Lys370=) c.1104G= (p.Lys368=) | |
11 | g.128839191C>G | CA383242815 | KCNJ1 | c.1053G>C (p.Lys351Asn) c.1110G>C (p.Lys370Asn) c.1104G>C (p.Lys368Asn) | |
11 | g.128839191C>T | CA230627609 | KCNJ1 | c.1053G>A (p.Lys351=) c.1110G>A (p.Lys370=) c.1104G>A (p.Lys368=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839192T>A | CA383242818 | KCNJ1 | c.1052A>T (p.Lys351Met) c.1109A>T (p.Lys370Met) c.1103A>T (p.Lys368Met) | |
11 | g.128839192T>C | CA383242819 | KCNJ1 | c.1052A>G (p.Lys351Arg) c.1109A>G (p.Lys370Arg) c.1103A>G (p.Lys368Arg) | |
11 | g.128839192T>G | CA383242821 | KCNJ1 | c.1052A>C (p.Lys351Thr) c.1109A>C (p.Lys370Thr) c.1103A>C (p.Lys368Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839192T= | CA2008286116 | KCNJ1 | c.1052A= (p.Lys351=) c.1109A= (p.Lys370=) c.1103A= (p.Lys368=) | |
11 | g.128839193T>A | CA383242823 | KCNJ1 | c.1051A>T (p.Lys351Ter) c.1108A>T (p.Lys370Ter) c.1102A>T (p.Lys368Ter) | |
11 | g.128839193T>C | CA6357386 | KCNJ1 | c.1051A>G (p.Lys351Glu) c.1108A>G (p.Lys370Glu) c.1102A>G (p.Lys368Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839193T>G | CA383242826 | KCNJ1 | c.1051A>C (p.Lys351Gln) c.1108A>C (p.Lys370Gln) c.1102A>C (p.Lys368Gln) | |
11 | g.128839193T= | CA2008286120 | KCNJ1 | c.1051A= (p.Lys351=) c.1108A= (p.Lys370=) c.1102A= (p.Lys368=) | |
11 | g.128839194C>A | CA383242827 | KCNJ1 | c.1050G>T (p.Met350Ile) c.1107G>T (p.Met369Ile) c.1101G>T (p.Met367Ile) | |
11 | g.128839194C= | CA2008286122 | KCNJ1 | c.1050G= (p.Met350=) c.1107G= (p.Met369=) c.1101G= (p.Met367=) | |
11 | g.128839194C>G | CA383242829 | KCNJ1 | c.1050G>C (p.Met350Ile) c.1107G>C (p.Met369Ile) c.1101G>C (p.Met367Ile) | |
11 | g.128839194C>T | CA6357387 | KCNJ1 | c.1050G>A (p.Met350Ile) c.1107G>A (p.Met369Ile) c.1101G>A (p.Met367Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839195A>C | CA383242832 | KCNJ1 | c.1049T>G (p.Met350Arg) c.1106T>G (p.Met369Arg) c.1100T>G (p.Met367Arg) | |
11 | g.128839195A>G | CA383242834 | KCNJ1 | c.1049T>C (p.Met350Thr) c.1106T>C (p.Met369Thr) c.1100T>C (p.Met367Thr) | |
11 | g.128839195A>T | CA383242835 | KCNJ1 | c.1049T>A (p.Met350Lys) c.1106T>A (p.Met369Lys) c.1100T>A (p.Met367Lys) | |
11 | g.128839196T>A | CA383242841 | KCNJ1 | c.1048A>T (p.Met350Leu) c.1105A>T (p.Met369Leu) c.1099A>T (p.Met367Leu) | |
11 | g.128839196T>C | CA383242840 | KCNJ1 | c.1048A>G (p.Met350Val) c.1105A>G (p.Met369Val) c.1099A>G (p.Met367Val) | |
11 | g.128839196T>G | CA383242838 | KCNJ1 | c.1048A>C (p.Met350Leu) c.1105A>C (p.Met369Leu) c.1099A>C (p.Met367Leu) | |
11 | g.128839197C>A | CA383242844 | KCNJ1 | c.1047G>T (p.Arg349Ser) c.1104G>T (p.Arg368Ser) c.1098G>T (p.Arg366Ser) | |
11 | g.128839197C= | CA2008286124 | KCNJ1 | c.1047G= (p.Arg349=) c.1104G= (p.Arg368=) c.1098G= (p.Arg366=) | |
11 | g.128839197C>G | CA383242845 | KCNJ1 | c.1047G>C (p.Arg349Ser) c.1104G>C (p.Arg368Ser) c.1098G>C (p.Arg366Ser) | |
11 | g.128839197C>T | CA230627659 | KCNJ1 | c.1047G>A (p.Arg349=) c.1104G>A (p.Arg368=) c.1098G>A (p.Arg366=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839198del | CA2616771374 | KCNJ1 | c.1047del (p.Met350Ter) c.1104del (p.Met369Ter) c.1098del (p.Met367Ter) | gnomAD v4 |
11 | g.128839198C>A | CA383242847 | KCNJ1 | c.1046G>T (p.Arg349Met) c.1103G>T (p.Arg368Met) c.1097G>T (p.Arg366Met) | |
11 | g.128839198C>G | CA383242850 | KCNJ1 | c.1046G>C (p.Arg349Thr) c.1103G>C (p.Arg368Thr) c.1097G>C (p.Arg366Thr) | |
11 | g.128839198C>T | CA383242851 | KCNJ1 | c.1046G>A (p.Arg349Lys) c.1103G>A (p.Arg368Lys) c.1097G>A (p.Arg366Lys) | |
11 | g.128839199T>A | CA383242852 | KCNJ1 | c.1045A>T (p.Arg349Trp) c.1102A>T (p.Arg368Trp) c.1096A>T (p.Arg366Trp) | |
11 | g.128839199T>C | CA6357388 | KCNJ1 | c.1045A>G (p.Arg349Gly) c.1102A>G (p.Arg368Gly) c.1096A>G (p.Arg366Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839199T>G | CA477702704 | KCNJ1 | c.1045A>C (p.Arg349=) c.1102A>C (p.Arg368=) c.1096A>C (p.Arg366=) | COSMIC |
11 | g.128839199T= | CA2008286128 | KCNJ1 | c.1045A= (p.Arg349=) c.1102A= (p.Arg368=) c.1096A= (p.Arg366=) | |
11 | g.128839200G>A | CA477702706 | KCNJ1 | c.1044C>T (p.Ala348=) c.1101C>T (p.Ala367=) c.1095C>T (p.Ala365=) | |
11 | g.128839200G>C | CA477702707 | KCNJ1 | c.1044C>G (p.Ala348=) c.1101C>G (p.Ala367=) c.1095C>G (p.Ala365=) | |
11 | g.128839200G>T | CA477702708 | KCNJ1 | c.1044C>A (p.Ala348=) c.1101C>A (p.Ala367=) c.1095C>A (p.Ala365=) | |
11 | g.128839201G>A | CA383242853 | KCNJ1 | c.1043C>T (p.Ala348Val) c.1100C>T (p.Ala367Val) c.1094C>T (p.Ala365Val) | |
11 | g.128839201G>C | CA383242854 | KCNJ1 | c.1043C>G (p.Ala348Gly) c.1100C>G (p.Ala367Gly) c.1094C>G (p.Ala365Gly) | |
11 | g.128839201G= | CA2008286131 | KCNJ1 | c.1043C= (p.Ala348=) c.1100C= (p.Ala367=) c.1094C= (p.Ala365=) | |
11 | g.128839201G>T | CA6357389 | KCNJ1 | c.1043C>A (p.Ala348Asp) c.1100C>A (p.Ala367Asp) c.1094C>A (p.Ala365Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |