Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.91273442_91273445delCA487829257CCDC88Cc.5273_5276del (p.Thr1758ArgfsTer?)
c.845_848del (p.Thr282ArgfsTer?)
c.1501_1504del
c.5165_5168del (p.Thr1722ArgfsTer?)
c.2354_2357del (p.Thr785ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273444T>ACA390610363CCDC88Cc.5268A>T (p.Arg1756Ser)
c.840A>T (p.Arg280Ser)
c.1496A>T
c.5160A>T (p.Arg1720Ser)
c.2349A>T (p.Arg783Ser)
 gnomAD v4
14g.91273444T>CCA487829274CCDC88Cc.5268A>G (p.Arg1756=)
c.840A>G (p.Arg280=)
c.1496A>G
c.5160A>G (p.Arg1720=)
c.2349A>G (p.Arg783=)
14g.91273444T>GCA390610365CCDC88Cc.5268A>C (p.Arg1756Ser)
c.840A>C (p.Arg280Ser)
c.1496A>C
c.5160A>C (p.Arg1720Ser)
c.2349A>C (p.Arg783Ser)
14g.91273445C>ACA390610368CCDC88Cc.5267G>T (p.Arg1756Ile)
c.839G>T (p.Arg280Ile)
c.1495G>T
c.5159G>T (p.Arg1720Ile)
c.2348G>T (p.Arg783Ile)
 gnomAD v4
14g.91273445C>GCA390610371CCDC88Cc.5267G>C (p.Arg1756Thr)
c.839G>C (p.Arg280Thr)
c.1495G>C
c.5159G>C (p.Arg1720Thr)
c.2348G>C (p.Arg783Thr)
14g.91273445C>TCA390610373CCDC88Cc.5267G>A (p.Arg1756Lys)
c.839G>A (p.Arg280Lys)
c.1495G>A
c.5159G>A (p.Arg1720Lys)
c.2348G>A (p.Arg783Lys)
14g.91273445_91273447delinsCTGCA2154902376CCDC88Cc.5265_5267delinsCAG (p.Phe1755=)
c.837_839delinsCAG (p.Phe279=)
c.1493_1495delinsCAG
c.5157_5159delinsCAG (p.Phe1719=)
c.2346_2348delinsCAG (p.Phe782=)
14g.91273446T>ACA390610376CCDC88Cc.5266A>T (p.Arg1756Ter)
c.838A>T (p.Arg280Ter)
c.1494A>T
c.5158A>T (p.Arg1720Ter)
c.2347A>T (p.Arg783Ter)
14g.91273446T>CCA390610377CCDC88Cc.5266A>G (p.Arg1756Gly)
c.838A>G (p.Arg280Gly)
c.1494A>G
c.5158A>G (p.Arg1720Gly)
c.2347A>G (p.Arg783Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273446T>GCA487829275CCDC88Cc.5266A>C (p.Arg1756=)
c.838A>C (p.Arg280=)
c.1494A>C
c.5158A>C (p.Arg1720=)
c.2347A>C (p.Arg783=)
14g.91273446T=CA2154902382CCDC88Cc.5266A= (p.Arg1756=)
c.838A= (p.Arg280=)
c.1494A=
c.5158A= (p.Arg1720=)
c.2347A= (p.Arg783=)
14g.91273446_91273447delCA913190512CCDC88Cc.5265_5266del (p.Phe1755LeufsTer4)
c.837_838del (p.Phe279LeufsTer4)
c.1493_1494del
c.5157_5158del (p.Phe1719LeufsTer4)
c.2346_2347del (p.Phe782LeufsTer4)
 ClinVar dbSNP
14g.91273447G>ACA487829276CCDC88Cc.5265C>T (p.Phe1755=)
c.837C>T (p.Phe279=)
c.1493C>T
c.5157C>T (p.Phe1719=)
c.2346C>T (p.Phe782=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273447G>CCA390610380CCDC88Cc.5265C>G (p.Phe1755Leu)
c.837C>G (p.Phe279Leu)
c.1493C>G
c.5157C>G (p.Phe1719Leu)
c.2346C>G (p.Phe782Leu)
14g.91273447G=CA2154902385CCDC88Cc.5265C= (p.Phe1755=)
c.837C= (p.Phe279=)
c.1493C=
c.5157C= (p.Phe1719=)
c.2346C= (p.Phe782=)
14g.91273447G>TCA390610381CCDC88Cc.5265C>A (p.Phe1755Leu)
c.837C>A (p.Phe279Leu)
c.1493C>A
c.5157C>A (p.Phe1719Leu)
c.2346C>A (p.Phe782Leu)
14g.91273448A>CCA390610384CCDC88Cc.5264T>G (p.Phe1755Cys)
c.836T>G (p.Phe279Cys)
c.1492T>G
c.5156T>G (p.Phe1719Cys)
c.2345T>G (p.Phe782Cys)
14g.91273448A>GCA390610386CCDC88Cc.5264T>C (p.Phe1755Ser)
c.836T>C (p.Phe279Ser)
c.1492T>C
c.5156T>C (p.Phe1719Ser)
c.2345T>C (p.Phe782Ser)
14g.91273448A>TCA390610388CCDC88Cc.5264T>A (p.Phe1755Tyr)
c.836T>A (p.Phe279Tyr)
c.1492T>A
c.5156T>A (p.Phe1719Tyr)
c.2345T>A (p.Phe782Tyr)
14g.91273449dupCA709862266CCDC88Cc.5264dup (p.Arg1756GlnfsTer4)
c.836dup (p.Arg280GlnfsTer4)
c.1492dup
c.5156dup (p.Arg1720GlnfsTer4)
c.2345dup (p.Arg783GlnfsTer4)
 dbSNP
14g.91273449A>CCA390610391CCDC88Cc.5263T>G (p.Phe1755Val)
c.835T>G (p.Phe279Val)
c.1491T>G
c.5155T>G (p.Phe1719Val)
c.2344T>G (p.Phe782Val)
14g.91273449A>GCA390610395CCDC88Cc.5263T>C (p.Phe1755Leu)
c.835T>C (p.Phe279Leu)
c.1491T>C
c.5155T>C (p.Phe1719Leu)
c.2344T>C (p.Phe782Leu)
14g.91273449A>TCA390610393CCDC88Cc.5263T>A (p.Phe1755Ile)
c.835T>A (p.Phe279Ile)
c.1491T>A
c.5155T>A (p.Phe1719Ile)
c.2344T>A (p.Phe782Ile)
14g.91273450G>ACA487829277CCDC88Cc.5262C>T (p.Asn1754=)
c.834C>T (p.Asn278=)
c.1490C>T
c.5154C>T (p.Asn1718=)
c.2343C>T (p.Asn781=)
 dbSNP gnomAD v2 gnomAD v4
14g.91273450G>CCA390610397CCDC88Cc.5262C>G (p.Asn1754Lys)
c.834C>G (p.Asn278Lys)
c.1490C>G
c.5154C>G (p.Asn1718Lys)
c.2343C>G (p.Asn781Lys)
14g.91273450G=CA2154902394CCDC88Cc.5262C= (p.Asn1754=)
c.834C= (p.Asn278=)
c.1490C=
c.5154C= (p.Asn1718=)
c.2343C= (p.Asn781=)
14g.91273450G>TCA390610399CCDC88Cc.5262C>A (p.Asn1754Lys)
c.834C>A (p.Asn278Lys)
c.1490C>A
c.5154C>A (p.Asn1718Lys)
c.2343C>A (p.Asn781Lys)
14g.91273451T>ACA390610402CCDC88Cc.5261A>T (p.Asn1754Ile)
c.833A>T (p.Asn278Ile)
c.1489A>T
c.5153A>T (p.Asn1718Ile)
c.2342A>T (p.Asn781Ile)
 gnomAD v4
14g.91273451T>CCA390610404CCDC88Cc.5261A>G (p.Asn1754Ser)
c.833A>G (p.Asn278Ser)
c.1489A>G
c.5153A>G (p.Asn1718Ser)
c.2342A>G (p.Asn781Ser)
 gnomAD v4
14g.91273451T>GCA390610405CCDC88Cc.5261A>C (p.Asn1754Thr)
c.833A>C (p.Asn278Thr)
c.1489A>C
c.5153A>C (p.Asn1718Thr)
c.2342A>C (p.Asn781Thr)
14g.91273453delCA2626123430CCDC88Cc.5261del (p.Asn1754ThrfsTer4)
c.833del (p.Asn278ThrfsTer4)
c.1489del
c.5153del (p.Asn1718ThrfsTer4)
c.2342del (p.Asn781ThrfsTer4)
 gnomAD v4
14g.91273452T>ACA390610408CCDC88Cc.5260A>T (p.Asn1754Tyr)
c.832A>T (p.Asn278Tyr)
c.1488A>T
c.5152A>T (p.Asn1718Tyr)
c.2341A>T (p.Asn781Tyr)
14g.91273452T>CCA390610410CCDC88Cc.5260A>G (p.Asn1754Asp)
c.832A>G (p.Asn278Asp)
c.1488A>G
c.5152A>G (p.Asn1718Asp)
c.2341A>G (p.Asn781Asp)
 gnomAD v4
14g.91273452T>GCA390610411CCDC88Cc.5260A>C (p.Asn1754His)
c.832A>C (p.Asn278His)
c.1488A>C
c.5152A>C (p.Asn1718His)
c.2341A>C (p.Asn781His)
14g.91273453T>ACA487829278CCDC88Cc.5259A>T (p.Pro1753=)
c.831A>T (p.Pro277=)
c.1487A>T
c.5151A>T (p.Pro1717=)
c.2340A>T (p.Pro780=)
14g.91273453T>CCA487829279CCDC88Cc.5259A>G (p.Pro1753=)
c.831A>G (p.Pro277=)
c.1487A>G
c.5151A>G (p.Pro1717=)
c.2340A>G (p.Pro780=)
14g.91273453T>GCA487829280CCDC88Cc.5259A>C (p.Pro1753=)
c.831A>C (p.Pro277=)
c.1487A>C
c.5151A>C (p.Pro1717=)
c.2340A>C (p.Pro780=)
14g.91273454G>ACA390610414CCDC88Cc.5258C>T (p.Pro1753Leu)
c.830C>T (p.Pro277Leu)
c.1486C>T
c.5150C>T (p.Pro1717Leu)
c.2339C>T (p.Pro780Leu)
 COSMIC COSMIC COSMIC
14g.91273454G>CCA390610416CCDC88Cc.5258C>G (p.Pro1753Arg)
c.830C>G (p.Pro277Arg)
c.1486C>G
c.5150C>G (p.Pro1717Arg)
c.2339C>G (p.Pro780Arg)
 gnomAD v4
14g.91273454G=CA2154902397CCDC88Cc.5258C= (p.Pro1753=)
c.830C= (p.Pro277=)
c.1486C=
c.5150C= (p.Pro1717=)
c.2339C= (p.Pro780=)
14g.91273454G>TCA390610418CCDC88Cc.5258C>A (p.Pro1753Gln)
c.830C>A (p.Pro277Gln)
c.1486C>A
c.5150C>A (p.Pro1717Gln)
c.2339C>A (p.Pro780Gln)
 dbSNP gnomAD v2 gnomAD v4
14g.91273455G>ACA265518325CCDC88Cc.5257C>T (p.Pro1753Ser)
c.829C>T (p.Pro277Ser)
c.1485C>T
c.5149C>T (p.Pro1717Ser)
c.2338C>T (p.Pro780Ser)
 dbSNP gnomAD v4
14g.91273455G>CCA390610425CCDC88Cc.5257C>G (p.Pro1753Ala)
c.829C>G (p.Pro277Ala)
c.1485C>G
c.5149C>G (p.Pro1717Ala)
c.2338C>G (p.Pro780Ala)
14g.91273455G=CA2154902404CCDC88Cc.5257C= (p.Pro1753=)
c.829C= (p.Pro277=)
c.1485C=
c.5149C= (p.Pro1717=)
c.2338C= (p.Pro780=)
14g.91273455G>TCA390610422CCDC88Cc.5257C>A (p.Pro1753Thr)
c.829C>A (p.Pro277Thr)
c.1485C>A
c.5149C>A (p.Pro1717Thr)
c.2338C>A (p.Pro780Thr)
 gnomAD v4
14g.91273456C>ACA390610431CCDC88Cc.5256G>T (p.Lys1752Asn)
c.828G>T (p.Lys276Asn)
c.1484G>T
c.5148G>T (p.Lys1716Asn)
c.2337G>T (p.Lys779Asn)
 gnomAD v4
14g.91273456C=CA2154902415CCDC88Cc.5256G= (p.Lys1752=)
c.828G= (p.Lys276=)
c.1484G=
c.5148G= (p.Lys1716=)
c.2337G= (p.Lys779=)
14g.91273456C>GCA390610429CCDC88Cc.5256G>C (p.Lys1752Asn)
c.828G>C (p.Lys276Asn)
c.1484G>C
c.5148G>C (p.Lys1716Asn)
c.2337G>C (p.Lys779Asn)
14g.91273456C>TCA487829281CCDC88Cc.5256G>A (p.Lys1752=)
c.828G>A (p.Lys276=)
c.1484G>A
c.5148G>A (p.Lys1716=)
c.2337G>A (p.Lys779=)
 dbSNP
14g.91273457T>ACA390610441CCDC88Cc.5255A>T (p.Lys1752Met)
c.827A>T (p.Lys276Met)
c.1483A>T
c.5147A>T (p.Lys1716Met)
c.2336A>T (p.Lys779Met)
14g.91273457T>CCA390610436CCDC88Cc.5255A>G (p.Lys1752Arg)
c.827A>G (p.Lys276Arg)
c.1483A>G
c.5147A>G (p.Lys1716Arg)
c.2336A>G (p.Lys779Arg)
14g.91273457T>GCA390610439CCDC88Cc.5255A>C (p.Lys1752Thr)
c.827A>C (p.Lys276Thr)
c.1483A>C
c.5147A>C (p.Lys1716Thr)
c.2336A>C (p.Lys779Thr)
14g.91273458T>ACA390610444CCDC88Cc.5254A>T (p.Lys1752Ter)
c.826A>T (p.Lys276Ter)
c.1482A>T
c.5146A>T (p.Lys1716Ter)
c.2335A>T (p.Lys779Ter)
14g.91273458T>CCA390610447CCDC88Cc.5254A>G (p.Lys1752Glu)
c.826A>G (p.Lys276Glu)
c.1482A>G
c.5146A>G (p.Lys1716Glu)
c.2335A>G (p.Lys779Glu)
14g.91273458T>GCA390610449CCDC88Cc.5254A>C (p.Lys1752Gln)
c.826A>C (p.Lys276Gln)
c.1482A>C
c.5146A>C (p.Lys1716Gln)
c.2335A>C (p.Lys779Gln)
14g.91273459T>ACA487829282CCDC88Cc.5253A>T (p.Val1751=)
c.825A>T (p.Val275=)
c.1481A>T
c.5145A>T (p.Val1715=)
c.2334A>T (p.Val778=)
14g.91273459T>CCA487829284CCDC88Cc.5253A>G (p.Val1751=)
c.825A>G (p.Val275=)
c.1481A>G
c.5145A>G (p.Val1715=)
c.2334A>G (p.Val778=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.91273459T>GCA487829283CCDC88Cc.5253A>C (p.Val1751=)
c.825A>C (p.Val275=)
c.1481A>C
c.5145A>C (p.Val1715=)
c.2334A>C (p.Val778=)
 dbSNP gnomAD v2 gnomAD v4
14g.91273459T=CA2154902420CCDC88Cc.5253A= (p.Val1751=)
c.825A= (p.Val275=)
c.1481A=
c.5145A= (p.Val1715=)
c.2334A= (p.Val778=)
14g.91273460A>CCA390610452CCDC88Cc.5252T>G (p.Val1751Gly)
c.824T>G (p.Val275Gly)
c.1480T>G
c.5144T>G (p.Val1715Gly)
c.2333T>G (p.Val778Gly)
14g.91273460A>GCA390610454CCDC88Cc.5252T>C (p.Val1751Ala)
c.824T>C (p.Val275Ala)
c.1480T>C
c.5144T>C (p.Val1715Ala)
c.2333T>C (p.Val778Ala)
 gnomAD v4
14g.91273460A>TCA390610455CCDC88Cc.5252T>A (p.Val1751Glu)
c.824T>A (p.Val275Glu)
c.1480T>A
c.5144T>A (p.Val1715Glu)
c.2333T>A (p.Val778Glu)
14g.91273461delCA2739278572CCDC88Cc.5251del (p.Val1751Ter)
c.823del (p.Val275Ter)
c.1479del
c.5143del (p.Val1715Ter)
c.2332del (p.Val778Ter)
 ClinVar
14g.91273461C>ACA7308689CCDC88Cc.5251G>T (p.Val1751Leu)
c.823G>T (p.Val275Leu)
c.1479G>T
c.5143G>T (p.Val1715Leu)
c.2332G>T (p.Val778Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273461C=CA2154902432CCDC88Cc.5251G= (p.Val1751=)
c.823G= (p.Val275=)
c.1479G=
c.5143G= (p.Val1715=)
c.2332G= (p.Val778=)
14g.91273461C>GCA390610459CCDC88Cc.5251G>C (p.Val1751Leu)
c.823G>C (p.Val275Leu)
c.1479G>C
c.5143G>C (p.Val1715Leu)
c.2332G>C (p.Val778Leu)
 gnomAD v4
14g.91273461C>TCA7308688CCDC88Cc.5251G>A (p.Val1751Ile)
c.823G>A (p.Val275Ile)
c.1479G>A
c.5143G>A (p.Val1715Ile)
c.2332G>A (p.Val778Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273462G>ACA487829285CCDC88Cc.5250C>T (p.Tyr1750=)
c.822C>T (p.Tyr274=)
c.1478C>T
c.5142C>T (p.Tyr1714=)
c.2331C>T (p.Tyr777=)
 dbSNP gnomAD v3 gnomAD v4
14g.91273462G>CCA390610465CCDC88Cc.5250C>G (p.Tyr1750Ter)
c.822C>G (p.Tyr274Ter)
c.1478C>G
c.5142C>G (p.Tyr1714Ter)
c.2331C>G (p.Tyr777Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273462G=CA2154902444CCDC88Cc.5250C= (p.Tyr1750=)
c.822C= (p.Tyr274=)
c.1478C=
c.5142C= (p.Tyr1714=)
c.2331C= (p.Tyr777=)
14g.91273462G>TCA390610467CCDC88Cc.5250C>A (p.Tyr1750Ter)
c.822C>A (p.Tyr274Ter)
c.1478C>A
c.5142C>A (p.Tyr1714Ter)
c.2331C>A (p.Tyr777Ter)
 COSMIC COSMIC COSMIC
14g.91273463T>ACA390610470CCDC88Cc.5249A>T (p.Tyr1750Phe)
c.821A>T (p.Tyr274Phe)
c.1477A>T
c.5141A>T (p.Tyr1714Phe)
c.2330A>T (p.Tyr777Phe)
14g.91273463T>CCA390610474CCDC88Cc.5249A>G (p.Tyr1750Cys)
c.821A>G (p.Tyr274Cys)
c.1477A>G
c.5141A>G (p.Tyr1714Cys)
c.2330A>G (p.Tyr777Cys)
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273463T>GCA390610472CCDC88Cc.5249A>C (p.Tyr1750Ser)
c.821A>C (p.Tyr274Ser)
c.1477A>C
c.5141A>C (p.Tyr1714Ser)
c.2330A>C (p.Tyr777Ser)
14g.91273464A>CCA390610478CCDC88Cc.5248T>G (p.Tyr1750Asp)
c.820T>G (p.Tyr274Asp)
c.1476T>G
c.5140T>G (p.Tyr1714Asp)
c.2329T>G (p.Tyr777Asp)
14g.91273464A>GCA390610480CCDC88Cc.5248T>C (p.Tyr1750His)
c.820T>C (p.Tyr274His)
c.1476T>C
c.5140T>C (p.Tyr1714His)
c.2329T>C (p.Tyr777His)
14g.91273464A>TCA390610481CCDC88Cc.5248T>A (p.Tyr1750Asn)
c.820T>A (p.Tyr274Asn)
c.1476T>A
c.5140T>A (p.Tyr1714Asn)
c.2329T>A (p.Tyr777Asn)
14g.91273465C>ACA390610483CCDC88Cc.5247G>T (p.Gln1749His)
c.819G>T (p.Gln273His)
c.1475G>T
c.5139G>T (p.Gln1713His)
c.2328G>T (p.Gln776His)
 gnomAD v4
14g.91273465C>GCA390610485CCDC88Cc.5247G>C (p.Gln1749His)
c.819G>C (p.Gln273His)
c.1475G>C
c.5139G>C (p.Gln1713His)
c.2328G>C (p.Gln776His)
14g.91273465C>TCA487829286CCDC88Cc.5247G>A (p.Gln1749=)
c.819G>A (p.Gln273=)
c.1475G>A
c.5139G>A (p.Gln1713=)
c.2328G>A (p.Gln776=)
 gnomAD v4
14g.91273466T>ACA390610489CCDC88Cc.5246A>T (p.Gln1749Leu)
c.818A>T (p.Gln273Leu)
c.1474A>T
c.5138A>T (p.Gln1713Leu)
c.2327A>T (p.Gln776Leu)
14g.91273466T>CCA390610491CCDC88Cc.5246A>G (p.Gln1749Arg)
c.818A>G (p.Gln273Arg)
c.1474A>G
c.5138A>G (p.Gln1713Arg)
c.2327A>G (p.Gln776Arg)
 dbSNP
14g.91273466T>GCA390610493CCDC88Cc.5246A>C (p.Gln1749Pro)
c.818A>C (p.Gln273Pro)
c.1474A>C
c.5138A>C (p.Gln1713Pro)
c.2327A>C (p.Gln776Pro)
14g.91273466T=CA2154902451CCDC88Cc.5246A= (p.Gln1749=)
c.818A= (p.Gln273=)
c.1474A=
c.5138A= (p.Gln1713=)
c.2327A= (p.Gln776=)
14g.91273467G>ACA390610496CCDC88Cc.5245C>T (p.Gln1749Ter)
c.817C>T (p.Gln273Ter)
c.1473C>T
c.5137C>T (p.Gln1713Ter)
c.2326C>T (p.Gln776Ter)
 dbSNP gnomAD v2 gnomAD v4
14g.91273467G>CCA390610497CCDC88Cc.5245C>G (p.Gln1749Glu)
c.817C>G (p.Gln273Glu)
c.1473C>G
c.5137C>G (p.Gln1713Glu)
c.2326C>G (p.Gln776Glu)
14g.91273467G=CA2154902453CCDC88Cc.5245C= (p.Gln1749=)
c.817C= (p.Gln273=)
c.1473C=
c.5137C= (p.Gln1713=)
c.2326C= (p.Gln776=)
14g.91273467G>TCA390610499CCDC88Cc.5245C>A (p.Gln1749Lys)
c.817C>A (p.Gln273Lys)
c.1473C>A
c.5137C>A (p.Gln1713Lys)
c.2326C>A (p.Gln776Lys)
14g.91273468C>ACA487829288CCDC88Cc.5244G>T (p.Gly1748=)
c.816G>T (p.Gly272=)
c.1472G>T
c.5136G>T (p.Gly1712=)
c.2325G>T (p.Gly775=)
14g.91273468C>GCA487829289CCDC88Cc.5244G>C (p.Gly1748=)
c.816G>C (p.Gly272=)
c.1472G>C
c.5136G>C (p.Gly1712=)
c.2325G>C (p.Gly775=)
14g.91273468C>TCA487829287CCDC88Cc.5244G>A (p.Gly1748=)
c.816G>A (p.Gly272=)
c.1472G>A
c.5136G>A (p.Gly1712=)
c.2325G>A (p.Gly775=)
 gnomAD v4
14g.91273469C>ACA390610507CCDC88Cc.5243G>T (p.Gly1748Val)
c.815G>T (p.Gly272Val)
n.1055G>T
c.1471G>T
c.5135G>T (p.Gly1712Val)
n.5518G>T
c.2324G>T (p.Gly775Val)
n.5516G>T
 gnomAD v4
14g.91273469C>GCA390610505CCDC88Cc.5243G>C (p.Gly1748Ala)
c.815G>C (p.Gly272Ala)
n.1055G>C
c.1471G>C
c.5135G>C (p.Gly1712Ala)
n.5518G>C
c.2324G>C (p.Gly775Ala)
n.5516G>C
14g.91273469C>TCA390610502CCDC88Cc.5243G>A (p.Gly1748Glu)
c.815G>A (p.Gly272Glu)
n.1055G>A
c.1471G>A
c.5135G>A (p.Gly1712Glu)
n.5518G>A
c.2324G>A (p.Gly775Glu)
n.5516G>A
 gnomAD v4
14g.91273470C>ACA390610516CCDC88Cc.5242G>T (p.Gly1748Trp)
c.814G>T (p.Gly272Trp)
n.1054G>T
c.1470G>T
c.5134G>T (p.Gly1712Trp)
n.5517G>T
c.2323G>T (p.Gly775Trp)
n.5515G>T
 dbSNP gnomAD v4
14g.91273470C=CA2154902461CCDC88Cc.5242G= (p.Gly1748=)
c.814G= (p.Gly272=)
n.1054G=
c.1470G=
c.5134G= (p.Gly1712=)
n.5517G=
c.2323G= (p.Gly775=)
n.5515G=
14g.91273470C>GCA390610510CCDC88Cc.5242G>C (p.Gly1748Arg)
c.814G>C (p.Gly272Arg)
n.1054G>C
c.1470G>C
c.5134G>C (p.Gly1712Arg)
n.5517G>C
c.2323G>C (p.Gly775Arg)
n.5515G>C
14g.91273470C>TCA7308690CCDC88Cc.5242G>A (p.Gly1748Arg)
c.814G>A (p.Gly272Arg)
n.1054G>A
c.1470G>A
c.5134G>A (p.Gly1712Arg)
n.5517G>A
c.2323G>A (p.Gly775Arg)
n.5515G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273471G>ACA7308692CCDC88Cc.5241C>T (p.Pro1747=)
c.813C>T (p.Pro271=)
n.1053C>T
c.1469C>T
c.5133C>T (p.Pro1711=)
n.5516C>T
c.2322C>T (p.Pro774=)
n.5514C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273471G>CCA7308691CCDC88Cc.5241C>G (p.Pro1747=)
c.813C>G (p.Pro271=)
n.1053C>G
c.1469C>G
c.5133C>G (p.Pro1711=)
n.5516C>G
c.2322C>G (p.Pro774=)
n.5514C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273471G=CA2154902462CCDC88Cc.5241C= (p.Pro1747=)
c.813C= (p.Pro271=)
n.1053C=
c.1469C=
c.5133C= (p.Pro1711=)
n.5516C=
c.2322C= (p.Pro774=)
n.5514C=
14g.91273471G>TCA487829290CCDC88Cc.5241C>A (p.Pro1747=)
c.813C>A (p.Pro271=)
n.1053C>A
c.1469C>A
c.5133C>A (p.Pro1711=)
n.5516C>A
c.2322C>A (p.Pro774=)
n.5514C>A
14g.91273472G>ACA390610524CCDC88Cc.5240C>T (p.Pro1747Leu)
c.812C>T (p.Pro271Leu)
n.1052C>T
c.1468C>T
c.5132C>T (p.Pro1711Leu)
n.5515C>T
c.2321C>T (p.Pro774Leu)
n.5513C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91273472G>CCA390610526CCDC88Cc.5240C>G (p.Pro1747Arg)
c.812C>G (p.Pro271Arg)
n.1052C>G
c.1468C>G
c.5132C>G (p.Pro1711Arg)
n.5515C>G
c.2321C>G (p.Pro774Arg)
n.5513C>G
14g.91273472G=CA2154902466CCDC88Cc.5240C= (p.Pro1747=)
c.812C= (p.Pro271=)
n.1052C=
c.1468C=
c.5132C= (p.Pro1711=)
n.5515C=
c.2321C= (p.Pro774=)
n.5513C=
14g.91273472G>TCA390610527CCDC88Cc.5240C>A (p.Pro1747His)
c.812C>A (p.Pro271His)
n.1052C>A
c.1468C>A
c.5132C>A (p.Pro1711His)
n.5515C>A
c.2321C>A (p.Pro774His)
n.5513C>A
 gnomAD v4
14g.91273473G>ACA390610531CCDC88Cc.5239C>T (p.Pro1747Ser)
c.811C>T (p.Pro271Ser)
n.1051C>T
c.1467C>T
c.5131C>T (p.Pro1711Ser)
n.5514C>T
c.2320C>T (p.Pro774Ser)
n.5512C>T
 gnomAD v4
14g.91273473G>CCA390610533CCDC88Cc.5239C>G (p.Pro1747Ala)
c.811C>G (p.Pro271Ala)
n.1051C>G
c.1467C>G
c.5131C>G (p.Pro1711Ala)
n.5514C>G
c.2320C>G (p.Pro774Ala)
n.5512C>G
14g.91273473G>TCA390610535CCDC88Cc.5239C>A (p.Pro1747Thr)
c.811C>A (p.Pro271Thr)
n.1051C>A
c.1467C>A
c.5131C>A (p.Pro1711Thr)
n.5514C>A
c.2320C>A (p.Pro774Thr)
n.5512C>A
 gnomAD v4
14g.91273474C>ACA390610538CCDC88Cc.5238G>T (p.Lys1746Asn)
c.810G>T (p.Lys270Asn)
n.1050G>T
c.1466G>T
c.5130G>T (p.Lys1710Asn)
n.5513G>T
c.2319G>T (p.Lys773Asn)
n.5511G>T
 gnomAD v4
14g.91273474C>GCA390610540CCDC88Cc.5238G>C (p.Lys1746Asn)
c.810G>C (p.Lys270Asn)
n.1050G>C
c.1466G>C
c.5130G>C (p.Lys1710Asn)
n.5513G>C
c.2319G>C (p.Lys773Asn)
n.5511G>C
14g.91273474C>TCA487829291CCDC88Cc.5238G>A (p.Lys1746=)
c.810G>A (p.Lys270=)
n.1050G>A
c.1466G>A
c.5130G>A (p.Lys1710=)
n.5513G>A
c.2319G>A (p.Lys773=)
n.5511G>A
 gnomAD v4
14g.91273475T>ACA390610549CCDC88Cc.5237A>T (p.Lys1746Met)
c.809A>T (p.Lys270Met)
n.1049A>T
c.1465A>T
c.5129A>T (p.Lys1710Met)
n.5512A>T
c.2318A>T (p.Lys773Met)
n.5510A>T
14g.91273475T>CCA390610546CCDC88Cc.5237A>G (p.Lys1746Arg)
c.809A>G (p.Lys270Arg)
n.1049A>G
c.1465A>G
c.5129A>G (p.Lys1710Arg)
n.5512A>G
c.2318A>G (p.Lys773Arg)
n.5510A>G
 gnomAD v4
14g.91273475T>GCA390610543CCDC88Cc.5237A>C (p.Lys1746Thr)
c.809A>C (p.Lys270Thr)
n.1049A>C
c.1465A>C
c.5129A>C (p.Lys1710Thr)
n.5512A>C
c.2318A>C (p.Lys773Thr)
n.5510A>C
14g.91273476T>ACA390610557CCDC88Cc.5236A>T (p.Lys1746Ter)
c.808A>T (p.Lys270Ter)
n.1048A>T
c.1464A>T
c.5128A>T (p.Lys1710Ter)
n.5511A>T
c.2317A>T (p.Lys773Ter)
n.5509A>T
 gnomAD v4
14g.91273476T>CCA390610600CCDC88Cc.5236A>G (p.Lys1746Glu)
c.808A>G (p.Lys270Glu)
n.1048A>G
c.1464A>G
c.5128A>G (p.Lys1710Glu)
n.5511A>G
c.2317A>G (p.Lys773Glu)
n.5509A>G
 gnomAD v4
14g.91273476T>GCA390610601CCDC88Cc.5236A>C (p.Lys1746Gln)
c.808A>C (p.Lys270Gln)
n.1048A>C
c.1464A>C
c.5128A>C (p.Lys1710Gln)
n.5511A>C
c.2317A>C (p.Lys773Gln)
n.5509A>C
14g.91273477C>ACA487829292CCDC88Cc.5235G>T (p.Leu1745=)
c.807G>T (p.Leu269=)
n.1047G>T
c.1463G>T
c.5127G>T (p.Leu1709=)
n.5510G>T
c.2316G>T (p.Leu772=)
n.5508G>T
 gnomAD v4
14g.91273477C=CA2154902473CCDC88Cc.5235G= (p.Leu1745=)
c.807G= (p.Leu269=)
n.1047G=
c.1463G=
c.5127G= (p.Leu1709=)
n.5510G=
c.2316G= (p.Leu772=)
n.5508G=
14g.91273477C>GCA487829293CCDC88Cc.5235G>C (p.Leu1745=)
c.807G>C (p.Leu269=)
n.1047G>C
c.1463G>C
c.5127G>C (p.Leu1709=)
n.5510G>C
c.2316G>C (p.Leu772=)
n.5508G>C
 gnomAD v4
14g.91273477C>TCA487829294CCDC88Cc.5235G>A (p.Leu1745=)
c.807G>A (p.Leu269=)
n.1047G>A
c.1463G>A
c.5127G>A (p.Leu1709=)
n.5510G>A
c.2316G>A (p.Leu772=)
n.5508G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273477_91273478dupCA2697554089CCDC88Cc.5234_5235dup (p.Lys1746Ter)
c.806_807dup (p.Lys270Ter)
n.1046_1047dup
c.1462_1463dup
c.5126_5127dup (p.Lys1710Ter)
n.5509_5510dup
c.2315_2316dup (p.Lys773Ter)
n.5507_5508dup
 ClinVar
14g.91273478A=CA2154902479CCDC88Cc.5234T= (p.Leu1745=)
c.806T= (p.Leu269=)
n.1046T=
c.1462T=
c.5126T= (p.Leu1709=)
n.5509T=
c.2315T= (p.Leu772=)
n.5507T=
14g.91273478A>CCA390610602CCDC88Cc.5234T>G (p.Leu1745Arg)
c.806T>G (p.Leu269Arg)
n.1046T>G
c.1462T>G
c.5126T>G (p.Leu1709Arg)
n.5509T>G
c.2315T>G (p.Leu772Arg)
n.5507T>G
 gnomAD v4
14g.91273478A>GCA390610603CCDC88Cc.5234T>C (p.Leu1745Pro)
c.806T>C (p.Leu269Pro)
n.1046T>C
c.1462T>C
c.5126T>C (p.Leu1709Pro)
n.5509T>C
c.2315T>C (p.Leu772Pro)
n.5507T>C
 dbSNP gnomAD v2 gnomAD v4
14g.91273478A>TCA390610604CCDC88Cc.5234T>A (p.Leu1745Gln)
c.806T>A (p.Leu269Gln)
n.1046T>A
c.1462T>A
c.5126T>A (p.Leu1709Gln)
n.5509T>A
c.2315T>A (p.Leu772Gln)
n.5507T>A
14g.91273478_91273500dupCA7308693CCDC88Cc.5212_5234dup (p.Lys1746ProfsTer8)
c.784_806dup (p.Lys270ProfsTer8)
n.1024_1046dup
c.1440_1462dup
c.5104_5126dup (p.Lys1710ProfsTer8)
n.5487_5509dup
c.2293_2315dup (p.Lys773ProfsTer8)
n.5485_5507dup
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273479G>ACA487829295CCDC88Cc.5233C>T (p.Leu1745=)
c.805C>T (p.Leu269=)
n.1045C>T
c.1461C>T
c.5125C>T (p.Leu1709=)
n.5508C>T
c.2314C>T (p.Leu772=)
n.5506C>T
 gnomAD v4
14g.91273479G>CCA390610605CCDC88Cc.5233C>G (p.Leu1745Val)
c.805C>G (p.Leu269Val)
n.1045C>G
c.1461C>G
c.5125C>G (p.Leu1709Val)
n.5508C>G
c.2314C>G (p.Leu772Val)
n.5506C>G
14g.91273479G>TCA390610606CCDC88Cc.5233C>A (p.Leu1745Met)
c.805C>A (p.Leu269Met)
n.1045C>A
c.1461C>A
c.5125C>A (p.Leu1709Met)
n.5508C>A
c.2314C>A (p.Leu772Met)
n.5506C>A
14g.91273480C>ACA487829296CCDC88Cc.5232G>T (p.Pro1744=)
c.804G>T (p.Pro268=)
n.1044G>T
c.1460G>T
c.5124G>T (p.Pro1708=)
n.5507G>T
c.2313G>T (p.Pro771=)
n.5505G>T
 gnomAD v4
14g.91273480C=CA2154902484CCDC88Cc.5232G= (p.Pro1744=)
c.804G= (p.Pro268=)
n.1044G=
c.1460G=
c.5124G= (p.Pro1708=)
n.5507G=
c.2313G= (p.Pro771=)
n.5505G=
14g.91273480C>GCA487829297CCDC88Cc.5232G>C (p.Pro1744=)
c.804G>C (p.Pro268=)
n.1044G>C
c.1460G>C
c.5124G>C (p.Pro1708=)
n.5507G>C
c.2313G>C (p.Pro771=)
n.5505G>C
 gnomAD v4
14g.91273480C>TCA7308694CCDC88Cc.5232G>A (p.Pro1744=)
c.804G>A (p.Pro268=)
n.1044G>A
c.1460G>A
c.5124G>A (p.Pro1708=)
n.5507G>A
c.2313G>A (p.Pro771=)
n.5505G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273481G>ACA7308696CCDC88Cc.5231C>T (p.Pro1744Leu)
c.803C>T (p.Pro268Leu)
n.1043C>T
c.1459C>T
c.5123C>T (p.Pro1708Leu)
n.5506C>T
c.2312C>T (p.Pro771Leu)
n.5504C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273481G>CCA7308695CCDC88Cc.5231C>G (p.Pro1744Arg)
c.803C>G (p.Pro268Arg)
n.1043C>G
c.1459C>G
c.5123C>G (p.Pro1708Arg)
n.5506C>G
c.2312C>G (p.Pro771Arg)
n.5504C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273481G=CA2154902490CCDC88Cc.5231C= (p.Pro1744=)
c.803C= (p.Pro268=)
n.1043C=
c.1459C=
c.5123C= (p.Pro1708=)
n.5506C=
c.2312C= (p.Pro771=)
n.5504C=
14g.91273481G>TCA390610607CCDC88Cc.5231C>A (p.Pro1744Gln)
c.803C>A (p.Pro268Gln)
n.1043C>A
c.1459C>A
c.5123C>A (p.Pro1708Gln)
n.5506C>A
c.2312C>A (p.Pro771Gln)
n.5504C>A
14g.91273482G>ACA390610609CCDC88Cc.5230C>T (p.Pro1744Ser)
c.802C>T (p.Pro268Ser)
n.1042C>T
c.1458C>T
c.5122C>T (p.Pro1708Ser)
n.5505C>T
c.2311C>T (p.Pro771Ser)
n.5503C>T
 gnomAD v4
14g.91273482G>CCA390610610CCDC88Cc.5230C>G (p.Pro1744Ala)
c.802C>G (p.Pro268Ala)
n.1042C>G
c.1458C>G
c.5122C>G (p.Pro1708Ala)
n.5505C>G
c.2311C>G (p.Pro771Ala)
n.5503C>G
14g.91273482G>TCA390610608CCDC88Cc.5230C>A (p.Pro1744Thr)
c.802C>A (p.Pro268Thr)
n.1042C>A
c.1458C>A
c.5122C>A (p.Pro1708Thr)
n.5505C>A
c.2311C>A (p.Pro771Thr)
n.5503C>A
14g.91273482_91273483insTGATGGTGGCCACA2626123433CCDC88Cc.5229_5230insTGGCCACCATCA (p.Arg1743_Pro1744insTrpProProSer)
c.801_802insTGGCCACCATCA (p.Arg267_Pro268insTrpProProSer)
n.1041_1042insTGGCCACCATCA
c.1457_1458insTGGCCACCATCA
c.5121_5122insTGGCCACCATCA (p.Arg1707_Pro1708insTrpProProSer)
n.5504_5505insTGGCCACCATCA
c.2310_2311insTGGCCACCATCA (p.Arg770_Pro771insTrpProProSer)
n.5502_5503insTGGCCACCATCA
 gnomAD v4
14g.91273483C>ACA390610611CCDC88Cc.5229G>T (p.Arg1743Ser)
c.801G>T (p.Arg267Ser)
n.1041G>T
c.1457G>T
c.5121G>T (p.Arg1707Ser)
n.5504G>T
c.2310G>T (p.Arg770Ser)
n.5502G>T
14g.91273483C>GCA390610612CCDC88Cc.5229G>C (p.Arg1743Ser)
c.801G>C (p.Arg267Ser)
n.1041G>C
c.1457G>C
c.5121G>C (p.Arg1707Ser)
n.5504G>C
c.2310G>C (p.Arg770Ser)
n.5502G>C
14g.91273483C>TCA487829298CCDC88Cc.5229G>A (p.Arg1743=)
c.801G>A (p.Arg267=)
n.1041G>A
c.1457G>A
c.5121G>A (p.Arg1707=)
n.5504G>A
c.2310G>A (p.Arg770=)
n.5502G>A
 gnomAD v4
14g.91273484C>ACA390610613CCDC88Cc.5228G>T (p.Arg1743Met)
c.800G>T (p.Arg267Met)
n.1040G>T
c.1456G>T
c.5120G>T (p.Arg1707Met)
n.5503G>T
c.2309G>T (p.Arg770Met)
n.5501G>T
 gnomAD v4
14g.91273484C>GCA390610614CCDC88Cc.5228G>C (p.Arg1743Thr)
c.800G>C (p.Arg267Thr)
n.1040G>C
c.1456G>C
c.5120G>C (p.Arg1707Thr)
n.5503G>C
c.2309G>C (p.Arg770Thr)
n.5501G>C
14g.91273484C>TCA390610615CCDC88Cc.5228G>A (p.Arg1743Lys)
c.800G>A (p.Arg267Lys)
n.1040G>A
c.1456G>A
c.5120G>A (p.Arg1707Lys)
n.5503G>A
c.2309G>A (p.Arg770Lys)
n.5501G>A
 dbSNP gnomAD v4
14g.91273485T>ACA390610616CCDC88Cc.5227A>T (p.Arg1743Trp)
c.799A>T (p.Arg267Trp)
n.1039A>T
c.1455A>T
c.5119A>T (p.Arg1707Trp)
n.5502A>T
c.2308A>T (p.Arg770Trp)
n.5500A>T
 gnomAD v4
14g.91273485T>CCA390610617CCDC88Cc.5227A>G (p.Arg1743Gly)
c.799A>G (p.Arg267Gly)
n.1039A>G
c.1455A>G
c.5119A>G (p.Arg1707Gly)
n.5502A>G
c.2308A>G (p.Arg770Gly)
n.5500A>G
 gnomAD v4
14g.91273485T>GCA487829299CCDC88Cc.5227A>C (p.Arg1743=)
c.799A>C (p.Arg267=)
n.1039A>C
c.1455A>C
c.5119A>C (p.Arg1707=)
n.5502A>C
c.2308A>C (p.Arg770=)
n.5500A>C
14g.91273485_91273486delinsTCCA2154902501CCDC88Cc.5226_5227delinsGA (p.Gly1742=)
c.798_799delinsGA (p.Gly266=)
n.1038_1039delinsGA
c.1454_1455delinsGA
c.5118_5119delinsGA (p.Gly1706=)
n.5501_5502delinsGA
c.2307_2308delinsGA (p.Gly769=)
n.5499_5500delinsGA
14g.91273486C>ACA487829300CCDC88Cc.5226G>T (p.Gly1742=)
c.798G>T (p.Gly266=)
n.1038G>T
c.1454G>T
c.5118G>T (p.Gly1706=)
n.5501G>T
c.2307G>T (p.Gly769=)
n.5499G>T
 gnomAD v4
14g.91273486C>GCA487829301CCDC88Cc.5226G>C (p.Gly1742=)
c.798G>C (p.Gly266=)
n.1038G>C
c.1454G>C
c.5118G>C (p.Gly1706=)
n.5501G>C
c.2307G>C (p.Gly769=)
n.5499G>C
14g.91273486C>TCA487829302CCDC88Cc.5226G>A (p.Gly1742=)
c.798G>A (p.Gly266=)
n.1038G>A
c.1454G>A
c.5118G>A (p.Gly1706=)
n.5501G>A
c.2307G>A (p.Gly769=)
n.5499G>A
14g.91273489delCA616112330CCDC88Cc.5226del (p.Arg1743GlyfsTer3)
c.798del (p.Arg267GlyfsTer3)
n.1038del
c.1454del
c.5118del (p.Arg1707GlyfsTer3)
n.5501del
c.2307del (p.Arg770GlyfsTer3)
n.5499del
 dbSNP gnomAD v2 gnomAD v4
14g.91273487C>ACA390610618CCDC88Cc.5225G>T (p.Gly1742Val)
c.797G>T (p.Gly266Val)
n.1037G>T
c.1453G>T
c.5117G>T (p.Gly1706Val)
n.5500G>T
c.2306G>T (p.Gly769Val)
n.5498G>T
 gnomAD v4
14g.91273487C=CA2154902508CCDC88Cc.5225G= (p.Gly1742=)
c.797G= (p.Gly266=)
n.1037G=
c.1453G=
c.5117G= (p.Gly1706=)
n.5500G=
c.2306G= (p.Gly769=)
n.5498G=
14g.91273487C>GCA390610619CCDC88Cc.5225G>C (p.Gly1742Ala)
c.797G>C (p.Gly266Ala)
n.1037G>C
c.1453G>C
c.5117G>C (p.Gly1706Ala)
n.5500G>C
c.2306G>C (p.Gly769Ala)
n.5498G>C
14g.91273487C>TCA7308697CCDC88Cc.5225G>A (p.Gly1742Glu)
c.797G>A (p.Gly266Glu)
n.1037G>A
c.1453G>A
c.5117G>A (p.Gly1706Glu)
n.5500G>A
c.2306G>A (p.Gly769Glu)
n.5498G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273488C>ACA390610620CCDC88Cc.5224G>T (p.Gly1742Trp)
c.796G>T (p.Gly266Trp)
n.1036G>T
c.1452G>T
c.5116G>T (p.Gly1706Trp)
n.5499G>T
c.2305G>T (p.Gly769Trp)
n.5497G>T
 gnomAD v4
14g.91273488C>GCA390610621CCDC88Cc.5224G>C (p.Gly1742Arg)
c.796G>C (p.Gly266Arg)
n.1036G>C
c.1452G>C
c.5116G>C (p.Gly1706Arg)
n.5499G>C
c.2305G>C (p.Gly769Arg)
n.5497G>C
14g.91273488C>TCA390610622CCDC88Cc.5224G>A (p.Gly1742Arg)
c.796G>A (p.Gly266Arg)
n.1036G>A
c.1452G>A
c.5116G>A (p.Gly1706Arg)
n.5499G>A
c.2305G>A (p.Gly769Arg)
n.5497G>A
14g.91273489C>ACA390610624CCDC88Cc.5223G>T (p.Glu1741Asp)
c.795G>T (p.Glu265Asp)
n.1035G>T
c.1451G>T
c.5115G>T (p.Glu1705Asp)
n.5498G>T
c.2304G>T (p.Glu768Asp)
n.5496G>T
 gnomAD v4
14g.91273489C=CA2154902515CCDC88Cc.5223G= (p.Glu1741=)
c.795G= (p.Glu265=)
n.1035G=
c.1451G=
c.5115G= (p.Glu1705=)
n.5498G=
c.2304G= (p.Glu768=)
n.5496G=
14g.91273489C>GCA390610623CCDC88Cc.5223G>C (p.Glu1741Asp)
c.795G>C (p.Glu265Asp)
n.1035G>C
c.1451G>C
c.5115G>C (p.Glu1705Asp)
n.5498G>C
c.2304G>C (p.Glu768Asp)
n.5496G>C
 gnomAD v4
14g.91273489C>TCA7308698CCDC88Cc.5223G>A (p.Glu1741=)
c.795G>A (p.Glu265=)
n.1035G>A
c.1451G>A
c.5115G>A (p.Glu1705=)
n.5498G>A
c.2304G>A (p.Glu768=)
n.5496G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273490delCA2626123434CCDC88Cc.5222del (p.Glu1741GlyfsTer5)
c.794del (p.Glu265GlyfsTer5)
n.1034del
c.1450del
c.5114del (p.Glu1705GlyfsTer5)
n.5497del
c.2303del (p.Glu768GlyfsTer5)
n.5495del
 gnomAD v4
14g.91273490T>ACA390610625CCDC88Cc.5222A>T (p.Glu1741Val)
c.794A>T (p.Glu265Val)
n.1034A>T
c.1450A>T
c.5114A>T (p.Glu1705Val)
n.5497A>T
c.2303A>T (p.Glu768Val)
n.5495A>T
14g.91273490T>CCA7308699CCDC88Cc.5222A>G (p.Glu1741Gly)
c.794A>G (p.Glu265Gly)
n.1034A>G
c.1450A>G
c.5114A>G (p.Glu1705Gly)
n.5497A>G
c.2303A>G (p.Glu768Gly)
n.5495A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273490T>GCA390610626CCDC88Cc.5222A>C (p.Glu1741Ala)
c.794A>C (p.Glu265Ala)
n.1034A>C
c.1450A>C
c.5114A>C (p.Glu1705Ala)
n.5497A>C
c.2303A>C (p.Glu768Ala)
n.5495A>C
14g.91273490T=CA2154902519CCDC88Cc.5222A= (p.Glu1741=)
c.794A= (p.Glu265=)
n.1034A=
c.1450A=
c.5114A= (p.Glu1705=)
n.5497A=
c.2303A= (p.Glu768=)
n.5495A=
14g.91273491C>ACA390610627CCDC88Cc.5221G>T (p.Glu1741Ter)
c.793G>T (p.Glu265Ter)
n.1033G>T
c.1449G>T
c.5113G>T (p.Glu1705Ter)
n.5496G>T
c.2302G>T (p.Glu768Ter)
n.5494G>T
 gnomAD v4
14g.91273491C>GCA390610628CCDC88Cc.5221G>C (p.Glu1741Gln)
c.793G>C (p.Glu265Gln)
n.1033G>C
c.1449G>C
c.5113G>C (p.Glu1705Gln)
n.5496G>C
c.2302G>C (p.Glu768Gln)
n.5494G>C
14g.91273491C>TCA390610629CCDC88Cc.5221G>A (p.Glu1741Lys)
c.793G>A (p.Glu265Lys)
n.1033G>A
c.1449G>A
c.5113G>A (p.Glu1705Lys)
n.5496G>A
c.2302G>A (p.Glu768Lys)
n.5494G>A
 gnomAD v4
14g.91273491_91273492delCA2626123435CCDC88Cc.5220_5221del (p.Glu1741GlyfsTer18)
c.792_793del (p.Glu265GlyfsTer18)
n.1032_1033del
c.1448_1449del
c.5112_5113del (p.Glu1705GlyfsTer18)
n.5495_5496del
c.2301_2302del (p.Glu768GlyfsTer18)
n.5493_5494del
 gnomAD v4
14g.91273492C>ACA487829303CCDC88Cc.5220G>T (p.Ser1740=)
c.792G>T (p.Ser264=)
n.1032G>T
c.1448G>T
c.5112G>T (p.Ser1704=)
n.5495G>T
c.2301G>T (p.Ser767=)
n.5493G>T
 gnomAD v4
14g.91273492C=CA2154902525CCDC88Cc.5220G= (p.Ser1740=)
c.792G= (p.Ser264=)
n.1032G=
c.1448G=
c.5112G= (p.Ser1704=)
n.5495G=
c.2301G= (p.Ser767=)
n.5493G=
14g.91273492C>GCA7308701CCDC88Cc.5220G>C (p.Ser1740=)
c.792G>C (p.Ser264=)
n.1032G>C
c.1448G>C
c.5112G>C (p.Ser1704=)
n.5495G>C
c.2301G>C (p.Ser767=)
n.5493G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273492C>TCA7308700CCDC88Cc.5220G>A (p.Ser1740=)
c.792G>A (p.Ser264=)
n.1032G>A
c.1448G>A
c.5112G>A (p.Ser1704=)
n.5495G>A
c.2301G>A (p.Ser767=)
n.5493G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273493G>ACA7308702CCDC88Cc.5219C>T (p.Ser1740Leu)
c.791C>T (p.Ser264Leu)
n.1031C>T
c.1447C>T
c.5111C>T (p.Ser1704Leu)
n.5494C>T
c.2300C>T (p.Ser767Leu)
n.5492C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273493G>CCA7308703CCDC88Cc.5219C>G (p.Ser1740Trp)
c.791C>G (p.Ser264Trp)
n.1031C>G
c.1447C>G
c.5111C>G (p.Ser1704Trp)
n.5494C>G
c.2300C>G (p.Ser767Trp)
n.5492C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273493G=CA2154902535CCDC88Cc.5219C= (p.Ser1740=)
c.791C= (p.Ser264=)
n.1031C=
c.1447C=
c.5111C= (p.Ser1704=)
n.5494C=
c.2300C= (p.Ser767=)
n.5492C=
14g.91273493G>TCA390610630CCDC88Cc.5219C>A (p.Ser1740Ter)
c.791C>A (p.Ser264Ter)
n.1031C>A
c.1447C>A
c.5111C>A (p.Ser1704Ter)
n.5494C>A
c.2300C>A (p.Ser767Ter)
n.5492C>A
14g.91273494A>CCA390610632CCDC88Cc.5218T>G (p.Ser1740Ala)
c.790T>G (p.Ser264Ala)
n.1030T>G
c.1446T>G
c.5110T>G (p.Ser1704Ala)
n.5493T>G
c.2299T>G (p.Ser767Ala)
n.5491T>G
14g.91273494A>GCA390610633CCDC88Cc.5218T>C (p.Ser1740Pro)
c.790T>C (p.Ser264Pro)
n.1030T>C
c.1446T>C
c.5110T>C (p.Ser1704Pro)
n.5493T>C
c.2299T>C (p.Ser767Pro)
n.5491T>C
 gnomAD v4
14g.91273494A>TCA390610631CCDC88Cc.5218T>A (p.Ser1740Thr)
c.790T>A (p.Ser264Thr)
n.1030T>A
c.1446T>A
c.5110T>A (p.Ser1704Thr)
n.5493T>A
c.2299T>A (p.Ser767Thr)
n.5491T>A
14g.91273495G>ACA7308704CCDC88Cc.5217C>T (p.Thr1739=)
c.789C>T (p.Thr263=)
n.1029C>T
c.1445C>T
c.5109C>T (p.Thr1703=)
n.5492C>T
c.2298C>T (p.Thr766=)
n.5490C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273495G>CCA487829304CCDC88Cc.5217C>G (p.Thr1739=)
c.789C>G (p.Thr263=)
n.1029C>G
c.1445C>G
c.5109C>G (p.Thr1703=)
n.5492C>G
c.2298C>G (p.Thr766=)
n.5490C>G
14g.91273495G=CA2154902542CCDC88Cc.5217C= (p.Thr1739=)
c.789C= (p.Thr263=)
n.1029C=
c.1445C=
c.5109C= (p.Thr1703=)
n.5492C=
c.2298C= (p.Thr766=)
n.5490C=
14g.91273495G>TCA7308705CCDC88Cc.5217C>A (p.Thr1739=)
c.789C>A (p.Thr263=)
n.1029C>A
c.1445C>A
c.5109C>A (p.Thr1703=)
n.5492C>A
c.2298C>A (p.Thr766=)
n.5490C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273495_91273496insCCA2626123436CCDC88Cc.5216_5217insG (p.Ser1740LeufsTer20)
c.788_789insG (p.Ser264LeufsTer20)
n.1028_1029insG
c.1444_1445insG
c.5108_5109insG (p.Ser1704LeufsTer20)
n.5491_5492insG
c.2297_2298insG (p.Ser767LeufsTer20)
n.5489_5490insG
 gnomAD v4
14g.91273496G>ACA390610634CCDC88Cc.5216C>T (p.Thr1739Ile)
c.788C>T (p.Thr263Ile)
n.1028C>T
c.1444C>T
c.5108C>T (p.Thr1703Ile)
n.5491C>T
c.2297C>T (p.Thr766Ile)
n.5489C>T
 gnomAD v4
14g.91273496G>CCA390610635CCDC88Cc.5216C>G (p.Thr1739Ser)
c.788C>G (p.Thr263Ser)
n.1028C>G
c.1444C>G
c.5108C>G (p.Thr1703Ser)
n.5491C>G
c.2297C>G (p.Thr766Ser)
n.5489C>G
 gnomAD v4
14g.91273496G>TCA390610636CCDC88Cc.5216C>A (p.Thr1739Asn)
c.788C>A (p.Thr263Asn)
n.1028C>A
c.1444C>A
c.5108C>A (p.Thr1703Asn)
n.5491C>A
c.2297C>A (p.Thr766Asn)
n.5489C>A
14g.91273497T>ACA390610637CCDC88Cc.5215A>T (p.Thr1739Ser)
c.787A>T (p.Thr263Ser)
n.1027A>T
c.1443A>T
c.5107A>T (p.Thr1703Ser)
n.5490A>T
c.2296A>T (p.Thr766Ser)
n.5488A>T
14g.91273497T>CCA390610638CCDC88Cc.5215A>G (p.Thr1739Ala)
c.787A>G (p.Thr263Ala)
n.1027A>G
c.1443A>G
c.5107A>G (p.Thr1703Ala)
n.5490A>G
c.2296A>G (p.Thr766Ala)
n.5488A>G
 gnomAD v4
14g.91273497T>GCA390610639CCDC88Cc.5215A>C (p.Thr1739Pro)
c.787A>C (p.Thr263Pro)
n.1027A>C
c.1443A>C
c.5107A>C (p.Thr1703Pro)
n.5490A>C
c.2296A>C (p.Thr766Pro)
n.5488A>C
 dbSNP
14g.91273497T=CA2154902550CCDC88Cc.5215A= (p.Thr1739=)
c.787A= (p.Thr263=)
n.1027A=
c.1443A=
c.5107A= (p.Thr1703=)
n.5490A=
c.2296A= (p.Thr766=)
n.5488A=
14g.91273498G>ACA487829306CCDC88Cc.5214C>T (p.Pro1738=)
c.786C>T (p.Pro262=)
n.1026C>T
c.1442C>T
c.5106C>T (p.Pro1702=)
n.5489C>T
c.2295C>T (p.Pro765=)
n.5487C>T
 gnomAD v4
14g.91273498G>CCA487829307CCDC88Cc.5214C>G (p.Pro1738=)
c.786C>G (p.Pro262=)
n.1026C>G
c.1442C>G
c.5106C>G (p.Pro1702=)
n.5489C>G
c.2295C>G (p.Pro765=)
n.5487C>G
14g.91273498G>TCA487829305CCDC88Cc.5214C>A (p.Pro1738=)
c.786C>A (p.Pro262=)
n.1026C>A
c.1442C>A
c.5106C>A (p.Pro1702=)
n.5489C>A
c.2295C>A (p.Pro765=)
n.5487C>A
 gnomAD v4
14g.91273502dupCA7308706CCDC88Cc.5214dup (p.Thr1739HisfsTer21)
c.786dup (p.Thr263HisfsTer21)
n.1026dup
c.1442dup
c.5106dup (p.Thr1703HisfsTer21)
n.5489dup
c.2295dup (p.Thr766HisfsTer21)
n.5487dup
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273502delCA2626123437CCDC88Cc.5214del (p.Thr1739ProfsTer7)
c.786del (p.Thr263ProfsTer7)
n.1026del
c.1442del
c.5106del (p.Thr1703ProfsTer7)
n.5489del
c.2295del (p.Thr766ProfsTer7)
n.5487del
 gnomAD v4
14g.91273499G>ACA390610640CCDC88Cc.5213C>T (p.Pro1738Leu)
c.785C>T (p.Pro262Leu)
n.1025C>T
c.1441C>T
c.5105C>T (p.Pro1702Leu)
n.5488C>T
c.2294C>T (p.Pro765Leu)
n.5486C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91273499G>CCA390610641CCDC88Cc.5213C>G (p.Pro1738Arg)
c.785C>G (p.Pro262Arg)
n.1025C>G
c.1441C>G
c.5105C>G (p.Pro1702Arg)
n.5488C>G
c.2294C>G (p.Pro765Arg)
n.5486C>G
14g.91273499G=CA2154902559CCDC88Cc.5213C= (p.Pro1738=)
c.785C= (p.Pro262=)
n.1025C=
c.1441C=
c.5105C= (p.Pro1702=)
n.5488C=
c.2294C= (p.Pro765=)
n.5486C=
14g.91273499G>TCA390610642CCDC88Cc.5213C>A (p.Pro1738His)
c.785C>A (p.Pro262His)
n.1025C>A
c.1441C>A
c.5105C>A (p.Pro1702His)
n.5488C>A
c.2294C>A (p.Pro765His)
n.5486C>A
14g.91273500G>ACA7308707CCDC88Cc.5212C>T (p.Pro1738Ser)
c.784C>T (p.Pro262Ser)
n.1024C>T
c.1440C>T
c.5104C>T (p.Pro1702Ser)
n.5487C>T
c.2293C>T (p.Pro765Ser)
n.5485C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273500G>CCA390610643CCDC88Cc.5212C>G (p.Pro1738Ala)
c.784C>G (p.Pro262Ala)
n.1024C>G
c.1440C>G
c.5104C>G (p.Pro1702Ala)
n.5487C>G
c.2293C>G (p.Pro765Ala)
n.5485C>G
14g.91273500G=CA2154902562CCDC88Cc.5212C= (p.Pro1738=)
c.784C= (p.Pro262=)
n.1024C=
c.1440C=
c.5104C= (p.Pro1702=)
n.5487C=
c.2293C= (p.Pro765=)
n.5485C=
14g.91273500G>TCA390610644CCDC88Cc.5212C>A (p.Pro1738Thr)
c.784C>A (p.Pro262Thr)
n.1024C>A
c.1440C>A
c.5104C>A (p.Pro1702Thr)
n.5487C>A
c.2293C>A (p.Pro765Thr)
n.5485C>A
 gnomAD v4
14g.91273501G>ACA487829308CCDC88Cc.5211C>T (p.Ala1737=)
c.783C>T (p.Ala261=)
n.1023C>T
c.1439C>T
c.5103C>T (p.Ala1701=)
n.5486C>T
c.2292C>T (p.Ala764=)
n.5484C>T
 gnomAD v4
14g.91273501G>CCA487829309CCDC88Cc.5211C>G (p.Ala1737=)
c.783C>G (p.Ala261=)
n.1023C>G
c.1439C>G
c.5103C>G (p.Ala1701=)
n.5486C>G
c.2292C>G (p.Ala764=)
n.5484C>G
14g.91273501G>TCA487829310CCDC88Cc.5211C>A (p.Ala1737=)
c.783C>A (p.Ala261=)
n.1023C>A
c.1439C>A
c.5103C>A (p.Ala1701=)
n.5486C>A
c.2292C>A (p.Ala764=)
n.5484C>A
 gnomAD v4
14g.91273502G>ACA390610645CCDC88Cc.5210C>T (p.Ala1737Val)
c.782C>T (p.Ala261Val)
n.1022C>T
c.1438C>T
c.5102C>T (p.Ala1701Val)
n.5485C>T
c.2291C>T (p.Ala764Val)
n.5483C>T
 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273502G>CCA390610646CCDC88Cc.5210C>G (p.Ala1737Gly)
c.782C>G (p.Ala261Gly)
n.1022C>G
c.1438C>G
c.5102C>G (p.Ala1701Gly)
n.5485C>G
c.2291C>G (p.Ala764Gly)
n.5483C>G
14g.91273502G>TCA390610647CCDC88Cc.5210C>A (p.Ala1737Asp)
c.782C>A (p.Ala261Asp)
n.1022C>A
c.1438C>A
c.5102C>A (p.Ala1701Asp)
n.5485C>A
c.2291C>A (p.Ala764Asp)
n.5483C>A
 gnomAD v4
14g.91273503C>ACA390610648CCDC88Cc.5209G>T (p.Ala1737Ser)
c.781G>T (p.Ala261Ser)
n.1021G>T
c.1437G>T
c.5101G>T (p.Ala1701Ser)
n.5484G>T
c.2290G>T (p.Ala764Ser)
n.5482G>T
 gnomAD v4
14g.91273503C=CA2154902565CCDC88Cc.5209G= (p.Ala1737=)
c.781G= (p.Ala261=)
n.1021G=
c.1437G=
c.5101G= (p.Ala1701=)
n.5484G=
c.2290G= (p.Ala764=)
n.5482G=
14g.91273503C>GCA390610649CCDC88Cc.5209G>C (p.Ala1737Pro)
c.781G>C (p.Ala261Pro)
n.1021G>C
c.1437G>C
c.5101G>C (p.Ala1701Pro)
n.5484G>C
c.2290G>C (p.Ala764Pro)
n.5482G>C
 gnomAD v4
14g.91273503C>TCA7308708CCDC88Cc.5209G>A (p.Ala1737Thr)
c.781G>A (p.Ala261Thr)
n.1021G>A
c.1437G>A
c.5101G>A (p.Ala1701Thr)
n.5484G>A
c.2290G>A (p.Ala764Thr)
n.5482G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273504G>ACA7308709CCDC88Cc.5208C>T (p.Ala1736=)
c.780C>T (p.Ala260=)
n.1020C>T
c.1436C>T
c.5100C>T (p.Ala1700=)
n.5483C>T
c.2289C>T (p.Ala763=)
n.5481C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273504G>CCA487829312CCDC88Cc.5208C>G (p.Ala1736=)
c.780C>G (p.Ala260=)
n.1020C>G
c.1436C>G
c.5100C>G (p.Ala1700=)
n.5483C>G
c.2289C>G (p.Ala763=)
n.5481C>G
14g.91273504G=CA2154902567CCDC88Cc.5208C= (p.Ala1736=)
c.780C= (p.Ala260=)
n.1020C=
c.1436C=
c.5100C= (p.Ala1700=)
n.5483C=
c.2289C= (p.Ala763=)
n.5481C=
14g.91273504G>TCA487829311CCDC88Cc.5208C>A (p.Ala1736=)
c.780C>A (p.Ala260=)
n.1020C>A
c.1436C>A
c.5100C>A (p.Ala1700=)
n.5483C>A
c.2289C>A (p.Ala763=)
n.5481C>A
 gnomAD v4
14g.91273505G>ACA7308710CCDC88Cc.5207C>T (p.Ala1736Val)
c.779C>T (p.Ala260Val)
n.1019C>T
c.1435C>T
c.5099C>T (p.Ala1700Val)
n.5482C>T
c.2288C>T (p.Ala763Val)
n.5480C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273505G>CCA390610650CCDC88Cc.5207C>G (p.Ala1736Gly)
c.779C>G (p.Ala260Gly)
n.1019C>G
c.1435C>G
c.5099C>G (p.Ala1700Gly)
n.5482C>G
c.2288C>G (p.Ala763Gly)
n.5480C>G
14g.91273505G=CA2154902571CCDC88Cc.5207C= (p.Ala1736=)
c.779C= (p.Ala260=)
n.1019C=
c.1435C=
c.5099C= (p.Ala1700=)
n.5482C=
c.2288C= (p.Ala763=)
n.5480C=
14g.91273505G>TCA390610651CCDC88Cc.5207C>A (p.Ala1736Asp)
c.779C>A (p.Ala260Asp)
n.1019C>A
c.1435C>A
c.5099C>A (p.Ala1700Asp)
n.5482C>A
c.2288C>A (p.Ala763Asp)
n.5480C>A
14g.91273506C>ACA390610652CCDC88Cc.5206G>T (p.Ala1736Ser)
c.778G>T (p.Ala260Ser)
n.1018G>T
c.1434G>T
c.5098G>T (p.Ala1700Ser)
n.5481G>T
c.2287G>T (p.Ala763Ser)
n.5479G>T
 gnomAD v4
14g.91273506C=CA2154902578CCDC88Cc.5206G= (p.Ala1736=)
c.778G= (p.Ala260=)
n.1018G=
c.1434G=
c.5098G= (p.Ala1700=)
n.5481G=
c.2287G= (p.Ala763=)
n.5479G=
14g.91273506C>GCA390610653CCDC88Cc.5206G>C (p.Ala1736Pro)
c.778G>C (p.Ala260Pro)
n.1018G>C
c.1434G>C
c.5098G>C (p.Ala1700Pro)
n.5481G>C
c.2287G>C (p.Ala763Pro)
n.5479G>C
14g.91273506C>TCA390610654CCDC88Cc.5206G>A (p.Ala1736Thr)
c.778G>A (p.Ala260Thr)
n.1018G>A
c.1434G>A
c.5098G>A (p.Ala1700Thr)
n.5481G>A
c.2287G>A (p.Ala763Thr)
n.5479G>A
 dbSNP gnomAD v4
14g.91273507C>ACA390610656CCDC88Cc.5205G>T (p.Met1735Ile)
c.777G>T (p.Met259Ile)
n.1017G>T
c.1433G>T
c.5097G>T (p.Met1699Ile)
n.5480G>T
c.2286G>T (p.Met762Ile)
n.5478G>T
 gnomAD v4
14g.91273507C>GCA390610657CCDC88Cc.5205G>C (p.Met1735Ile)
c.777G>C (p.Met259Ile)
n.1017G>C
c.1433G>C
c.5097G>C (p.Met1699Ile)
n.5480G>C
c.2286G>C (p.Met762Ile)
n.5478G>C
14g.91273507C>TCA390610655CCDC88Cc.5205G>A (p.Met1735Ile)
c.777G>A (p.Met259Ile)
n.1017G>A
c.1433G>A
c.5097G>A (p.Met1699Ile)
n.5480G>A
c.2286G>A (p.Met762Ile)
n.5478G>A
 gnomAD v4
14g.91273508A>CCA390610658CCDC88Cc.5204T>G (p.Met1735Arg)
c.776T>G (p.Met259Arg)
n.1016T>G
c.1432T>G
c.5096T>G (p.Met1699Arg)
n.5479T>G
c.2285T>G (p.Met762Arg)
n.5477T>G
14g.91273508A>GCA390610659CCDC88Cc.5204T>C (p.Met1735Thr)
c.776T>C (p.Met259Thr)
n.1016T>C
c.1432T>C
c.5096T>C (p.Met1699Thr)
n.5479T>C
c.2285T>C (p.Met762Thr)
n.5477T>C
14g.91273508A>TCA390610660CCDC88Cc.5204T>A (p.Met1735Lys)
c.776T>A (p.Met259Lys)
n.1016T>A
c.1432T>A
c.5096T>A (p.Met1699Lys)
n.5479T>A
c.2285T>A (p.Met762Lys)
n.5477T>A
14g.91273509T>ACA390610661CCDC88Cc.5203A>T (p.Met1735Leu)
c.775A>T (p.Met259Leu)
n.1015A>T
c.1431A>T
c.5095A>T (p.Met1699Leu)
n.5478A>T
c.2284A>T (p.Met762Leu)
n.5476A>T
14g.91273509T>CCA390610662CCDC88Cc.5203A>G (p.Met1735Val)
c.775A>G (p.Met259Val)
n.1015A>G
c.1431A>G
c.5095A>G (p.Met1699Val)
n.5478A>G
c.2284A>G (p.Met762Val)
n.5476A>G
 gnomAD v4
14g.91273509T>GCA390610663CCDC88Cc.5203A>C (p.Met1735Leu)
c.775A>C (p.Met259Leu)
n.1015A>C
c.1431A>C
c.5095A>C (p.Met1699Leu)
n.5478A>C
c.2284A>C (p.Met762Leu)
n.5476A>C
14g.91273512delCA2626123441CCDC88Cc.5203del (p.Met1735TrpfsTer11)
c.775del (p.Met259TrpfsTer11)
n.1015del
c.1431del
c.5095del (p.Met1699TrpfsTer11)
n.5478del
c.2284del (p.Met762TrpfsTer11)
n.5476del
 gnomAD v4
14g.91273510T>ACA390610665CCDC88Cc.5202A>T (p.Lys1734Asn)
c.774A>T (p.Lys258Asn)
n.1014A>T
c.1430A>T
c.5094A>T (p.Lys1698Asn)
n.5477A>T
c.2283A>T (p.Lys761Asn)
n.5475A>T
14g.91273510T>CCA487829313CCDC88Cc.5202A>G (p.Lys1734=)
c.774A>G (p.Lys258=)
n.1014A>G
c.1430A>G
c.5094A>G (p.Lys1698=)
n.5477A>G
c.2283A>G (p.Lys761=)
n.5475A>G
 gnomAD v4
14g.91273510T>GCA390610664CCDC88Cc.5202A>C (p.Lys1734Asn)
c.774A>C (p.Lys258Asn)
n.1014A>C
c.1430A>C
c.5094A>C (p.Lys1698Asn)
n.5477A>C
c.2283A>C (p.Lys761Asn)
n.5475A>C
14g.91273511T>ACA390610666CCDC88Cc.5201A>T (p.Lys1734Ile)
c.773A>T (p.Lys258Ile)
n.1013A>T
c.1429A>T
c.5093A>T (p.Lys1698Ile)
n.5476A>T
c.2282A>T (p.Lys761Ile)
n.5474A>T
14g.91273511T>CCA390610667CCDC88Cc.5201A>G (p.Lys1734Arg)
c.773A>G (p.Lys258Arg)
n.1013A>G
c.1429A>G
c.5093A>G (p.Lys1698Arg)
n.5476A>G
c.2282A>G (p.Lys761Arg)
n.5474A>G
 dbSNP gnomAD v4
14g.91273511T>GCA390610668CCDC88Cc.5201A>C (p.Lys1734Thr)
c.773A>C (p.Lys258Thr)
n.1013A>C
c.1429A>C
c.5093A>C (p.Lys1698Thr)
n.5476A>C
c.2282A>C (p.Lys761Thr)
n.5474A>C
14g.91273511T=CA2154902582CCDC88Cc.5201A= (p.Lys1734=)
c.773A= (p.Lys258=)
n.1013A=
c.1429A=
c.5093A= (p.Lys1698=)
n.5476A=
c.2282A= (p.Lys761=)
n.5474A=
14g.91273512T>ACA390610669CCDC88Cc.5200A>T (p.Lys1734Ter)
c.772A>T (p.Lys258Ter)
n.1012A>T
c.1428A>T
c.5092A>T (p.Lys1698Ter)
n.5475A>T
c.2281A>T (p.Lys761Ter)
n.5473A>T
14g.91273512T>CCA390610670CCDC88Cc.5200A>G (p.Lys1734Glu)
c.772A>G (p.Lys258Glu)
n.1012A>G
c.1428A>G
c.5092A>G (p.Lys1698Glu)
n.5475A>G
c.2281A>G (p.Lys761Glu)
n.5473A>G
 gnomAD v4
14g.91273512T>GCA390610671CCDC88Cc.5200A>C (p.Lys1734Gln)
c.772A>C (p.Lys258Gln)
n.1012A>C
c.1428A>C
c.5092A>C (p.Lys1698Gln)
n.5475A>C
c.2281A>C (p.Lys761Gln)
n.5473A>C
14g.91273513G>ACA487829314CCDC88Cc.5199C>T (p.Val1733=)
c.771C>T (p.Val257=)
n.1011C>T
c.1427C>T
c.5091C>T (p.Val1697=)
n.5474C>T
c.2280C>T (p.Val760=)
n.5472C>T
 gnomAD v4
14g.91273513G>CCA487829315CCDC88Cc.5199C>G (p.Val1733=)
c.771C>G (p.Val257=)
n.1011C>G
c.1427C>G
c.5091C>G (p.Val1697=)
n.5474C>G
c.2280C>G (p.Val760=)
n.5472C>G
14g.91273513G>TCA487829316CCDC88Cc.5199C>A (p.Val1733=)
c.771C>A (p.Val257=)
n.1011C>A
c.1427C>A
c.5091C>A (p.Val1697=)
n.5474C>A
c.2280C>A (p.Val760=)
n.5472C>A
14g.91273514A=CA2154902586CCDC88Cc.5198T= (p.Val1733=)
c.770T= (p.Val257=)
n.1010T=
c.1426T=
c.5090T= (p.Val1697=)
n.5473T=
c.2279T= (p.Val760=)
n.5471T=
14g.91273514A>CCA390610673CCDC88Cc.5198T>G (p.Val1733Gly)
c.770T>G (p.Val257Gly)
n.1010T>G
c.1426T>G
c.5090T>G (p.Val1697Gly)
n.5473T>G
c.2279T>G (p.Val760Gly)
n.5471T>G
 gnomAD v4
14g.91273514A>GCA7308711CCDC88Cc.5198T>C (p.Val1733Ala)
c.770T>C (p.Val257Ala)
n.1010T>C
c.1426T>C
c.5090T>C (p.Val1697Ala)
n.5473T>C
c.2279T>C (p.Val760Ala)
n.5471T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273514A>TCA390610672CCDC88Cc.5198T>A (p.Val1733Asp)
c.770T>A (p.Val257Asp)
n.1010T>A
c.1426T>A
c.5090T>A (p.Val1697Asp)
n.5473T>A
c.2279T>A (p.Val760Asp)
n.5471T>A
14g.91273515C>ACA390610674CCDC88Cc.5197G>T (p.Val1733Phe)
c.769G>T (p.Val257Phe)
n.1009G>T
c.1425G>T
c.5089G>T (p.Val1697Phe)
n.5472G>T
c.2278G>T (p.Val760Phe)
n.5470G>T
 gnomAD v4
14g.91273515C=CA2154902593CCDC88Cc.5197G= (p.Val1733=)
c.769G= (p.Val257=)
n.1009G=
c.1425G=
c.5089G= (p.Val1697=)
n.5472G=
c.2278G= (p.Val760=)
n.5470G=
14g.91273515C>GCA390610675CCDC88Cc.5197G>C (p.Val1733Leu)
c.769G>C (p.Val257Leu)
n.1009G>C
c.1425G>C
c.5089G>C (p.Val1697Leu)
n.5472G>C
c.2278G>C (p.Val760Leu)
n.5470G>C
14g.91273515C>TCA7308712CCDC88Cc.5197G>A (p.Val1733Ile)
c.769G>A (p.Val257Ile)
n.1009G>A
c.1425G>A
c.5089G>A (p.Val1697Ile)
n.5472G>A
c.2278G>A (p.Val760Ile)
n.5470G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
14g.91273516G>ACA7308713CCDC88Cc.5196C>T (p.Thr1732=)
c.768C>T (p.Thr256=)
n.1008C>T
c.1424C>T
c.5088C>T (p.Thr1696=)
n.5471C>T
c.2277C>T (p.Thr759=)
n.5469C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273516G>CCA487829317CCDC88Cc.5196C>G (p.Thr1732=)
c.768C>G (p.Thr256=)
n.1008C>G
c.1424C>G
c.5088C>G (p.Thr1696=)
n.5471C>G
c.2277C>G (p.Thr759=)
n.5469C>G
14g.91273516G=CA2154902598CCDC88Cc.5196C= (p.Thr1732=)
c.768C= (p.Thr256=)
n.1008C=
c.1424C=
c.5088C= (p.Thr1696=)
n.5471C=
c.2277C= (p.Thr759=)
n.5469C=
14g.91273516G>TCA487829318CCDC88Cc.5196C>A (p.Thr1732=)
c.768C>A (p.Thr256=)
n.1008C>A
c.1424C>A
c.5088C>A (p.Thr1696=)
n.5471C>A
c.2277C>A (p.Thr759=)
n.5469C>A
 gnomAD v4
14g.91273517G>ACA390610676CCDC88Cc.5195C>T (p.Thr1732Ile)
c.767C>T (p.Thr256Ile)
n.1007C>T
c.1423C>T
c.5087C>T (p.Thr1696Ile)
n.5470C>T
c.2276C>T (p.Thr759Ile)
n.5468C>T
 gnomAD v4
14g.91273517G>CCA390610677CCDC88Cc.5195C>G (p.Thr1732Ser)
c.767C>G (p.Thr256Ser)
n.1007C>G
c.1423C>G
c.5087C>G (p.Thr1696Ser)
n.5470C>G
c.2276C>G (p.Thr759Ser)
n.5468C>G
14g.91273517G>TCA390610678CCDC88Cc.5195C>A (p.Thr1732Asn)
c.767C>A (p.Thr256Asn)
n.1007C>A
c.1423C>A
c.5087C>A (p.Thr1696Asn)
n.5470C>A
c.2276C>A (p.Thr759Asn)
n.5468C>A
14g.91273518T>ACA390610679CCDC88Cc.5194A>T (p.Thr1732Ser)
c.766A>T (p.Thr256Ser)
n.1006A>T
c.1422A>T
c.5086A>T (p.Thr1696Ser)
n.5469A>T
c.2275A>T (p.Thr759Ser)
n.5467A>T
14g.91273518T>CCA390610680CCDC88Cc.5194A>G (p.Thr1732Ala)
c.766A>G (p.Thr256Ala)
n.1006A>G
c.1422A>G
c.5086A>G (p.Thr1696Ala)
n.5469A>G
c.2275A>G (p.Thr759Ala)
n.5467A>G
 gnomAD v4
14g.91273518T>GCA390610681CCDC88Cc.5194A>C (p.Thr1732Pro)
c.766A>C (p.Thr256Pro)
n.1006A>C
c.1422A>C
c.5086A>C (p.Thr1696Pro)
n.5469A>C
c.2275A>C (p.Thr759Pro)
n.5467A>C
 gnomAD v4
14g.91273519G>ACA487829321CCDC88Cc.5193C>T (p.Pro1731=)
c.765C>T (p.Pro255=)
n.1005C>T
c.1421C>T
c.5085C>T (p.Pro1695=)
n.5468C>T
c.2274C>T (p.Pro758=)
n.5466C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
14g.91273519G>CCA487829320CCDC88Cc.5193C>G (p.Pro1731=)
c.765C>G (p.Pro255=)
n.1005C>G
c.1421C>G
c.5085C>G (p.Pro1695=)
n.5468C>G
c.2274C>G (p.Pro758=)
n.5466C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273519G=CA2154902603CCDC88Cc.5193C= (p.Pro1731=)
c.765C= (p.Pro255=)
n.1005C=
c.1421C=
c.5085C= (p.Pro1695=)
n.5468C=
c.2274C= (p.Pro758=)
n.5466C=
14g.91273519G>TCA487829319CCDC88Cc.5193C>A (p.Pro1731=)
c.765C>A (p.Pro255=)
n.1005C>A
c.1421C>A
c.5085C>A (p.Pro1695=)
n.5468C>A
c.2274C>A (p.Pro758=)
n.5466C>A
14g.91273523dupCA2626123444CCDC88Cc.5193dup (p.Thr1732HisfsTer28)
c.765dup (p.Thr256HisfsTer28)
n.1005dup
c.1421dup
c.5085dup (p.Thr1696HisfsTer28)
n.5468dup
c.2274dup (p.Thr759HisfsTer28)
n.5466dup
 gnomAD v4
14g.91273523delCA2626123445CCDC88Cc.5193del (p.Thr1732ProfsTer14)
c.765del (p.Thr256ProfsTer14)
n.1005del
c.1421del
c.5085del (p.Thr1696ProfsTer14)
n.5468del
c.2274del (p.Thr759ProfsTer14)
n.5466del
 gnomAD v4
14g.91273520G>ACA390610682CCDC88Cc.5192C>T (p.Pro1731Leu)
c.764C>T (p.Pro255Leu)
n.1004C>T
c.1420C>T
c.5084C>T (p.Pro1695Leu)
n.5467C>T
c.2273C>T (p.Pro758Leu)
n.5465C>T
14g.91273520G>CCA390610683CCDC88Cc.5192C>G (p.Pro1731Arg)
c.764C>G (p.Pro255Arg)
n.1004C>G
c.1420C>G
c.5084C>G (p.Pro1695Arg)
n.5467C>G
c.2273C>G (p.Pro758Arg)
n.5465C>G
14g.91273520G>TCA390610684CCDC88Cc.5192C>A (p.Pro1731His)
c.764C>A (p.Pro255His)
n.1004C>A
c.1420C>A
c.5084C>A (p.Pro1695His)
n.5467C>A
c.2273C>A (p.Pro758His)
n.5465C>A
 gnomAD v4
14g.91273521G>ACA390610687CCDC88Cc.5191C>T (p.Pro1731Ser)
c.763C>T (p.Pro255Ser)
n.1003C>T
c.1419C>T
c.5083C>T (p.Pro1695Ser)
n.5466C>T
c.2272C>T (p.Pro758Ser)
n.5464C>T
 gnomAD v4 COSMIC
14g.91273521G>CCA390610685CCDC88Cc.5191C>G (p.Pro1731Ala)
c.763C>G (p.Pro255Ala)
n.1003C>G
c.1419C>G
c.5083C>G (p.Pro1695Ala)
n.5466C>G
c.2272C>G (p.Pro758Ala)
n.5464C>G
 gnomAD v4
14g.91273521G>TCA390610686CCDC88Cc.5191C>A (p.Pro1731Thr)
c.763C>A (p.Pro255Thr)
n.1003C>A
c.1419C>A
c.5083C>A (p.Pro1695Thr)
n.5466C>A
c.2272C>A (p.Pro758Thr)
n.5464C>A
 gnomAD v4
14g.91273522G>ACA487829324CCDC88Cc.5190C>T (p.Ala1730=)
c.762C>T (p.Ala254=)
n.1002C>T
c.1418C>T
c.5082C>T (p.Ala1694=)
n.5465C>T
c.2271C>T (p.Ala757=)
n.5463C>T
 gnomAD v4
14g.91273522G>CCA487829323CCDC88Cc.5190C>G (p.Ala1730=)
c.762C>G (p.Ala254=)
n.1002C>G
c.1418C>G
c.5082C>G (p.Ala1694=)
n.5465C>G
c.2271C>G (p.Ala757=)
n.5463C>G
14g.91273522G>TCA487829322CCDC88Cc.5190C>A (p.Ala1730=)
c.762C>A (p.Ala254=)
n.1002C>A
c.1418C>A
c.5082C>A (p.Ala1694=)
n.5465C>A
c.2271C>A (p.Ala757=)
n.5463C>A
 gnomAD v4
14g.91273523G>ACA390610688CCDC88Cc.5189C>T (p.Ala1730Val)
c.761C>T (p.Ala254Val)
n.1001C>T
c.1417C>T
c.5081C>T (p.Ala1694Val)
n.5464C>T
c.2270C>T (p.Ala757Val)
n.5462C>T
 dbSNP gnomAD v2 gnomAD v4
14g.91273523G>CCA390610689CCDC88Cc.5189C>G (p.Ala1730Gly)
c.761C>G (p.Ala254Gly)
n.1001C>G
c.1417C>G
c.5081C>G (p.Ala1694Gly)
n.5464C>G
c.2270C>G (p.Ala757Gly)
n.5462C>G
14g.91273523G=CA2154902605CCDC88Cc.5189C= (p.Ala1730=)
c.761C= (p.Ala254=)
n.1001C=
c.1417C=
c.5081C= (p.Ala1694=)
n.5464C=
c.2270C= (p.Ala757=)
n.5462C=
14g.91273523G>TCA7308714CCDC88Cc.5189C>A (p.Ala1730Asp)
c.761C>A (p.Ala254Asp)
n.1001C>A
c.1417C>A
c.5081C>A (p.Ala1694Asp)
n.5464C>A
c.2270C>A (p.Ala757Asp)
n.5462C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.91273524C>ACA390610690CCDC88Cc.5188G>T (p.Ala1730Ser)
c.760G>T (p.Ala254Ser)
n.1000G>T
c.1416G>T
c.5080G>T (p.Ala1694Ser)
n.5463G>T
c.2269G>T (p.Ala757Ser)
n.5461G>T
 gnomAD v4
14g.91273524C>GCA390610691CCDC88Cc.5188G>C (p.Ala1730Pro)
c.760G>C (p.Ala254Pro)
n.1000G>C
c.1416G>C
c.5080G>C (p.Ala1694Pro)
n.5463G>C
c.2269G>C (p.Ala757Pro)
n.5461G>C
14g.91273524C>TCA390610692CCDC88Cc.5188G>A (p.Ala1730Thr)
c.760G>A (p.Ala254Thr)
n.1000G>A
c.1416G>A
c.5080G>A (p.Ala1694Thr)
n.5463G>A
c.2269G>A (p.Ala757Thr)
n.5461G>A
 gnomAD v4
14g.91273525delCA2626123446CCDC88Cc.5188del (p.Ala1730ProfsTer16)
c.760del (p.Ala254ProfsTer16)
n.1000del
c.1416del
c.5080del (p.Ala1694ProfsTer16)
n.5463del
c.2269del (p.Ala757ProfsTer16)
n.5461del
 gnomAD v4
14g.91273525C>ACA487829325CCDC88Cc.5187G>T (p.Val1729=)
c.759G>T (p.Val253=)
n.999G>T
c.1415G>T
c.5079G>T (p.Val1693=)
n.5462G>T
c.2268G>T (p.Val756=)
n.5460G>T
14g.91273525C>GCA487829327CCDC88Cc.5187G>C (p.Val1729=)
c.759G>C (p.Val253=)
n.999G>C
c.1415G>C
c.5079G>C (p.Val1693=)
n.5462G>C
c.2268G>C (p.Val756=)
n.5460G>C
14g.91273525C>TCA487829326CCDC88Cc.5187G>A (p.Val1729=)
c.759G>A (p.Val253=)
n.999G>A
c.1415G>A
c.5079G>A (p.Val1693=)
n.5462G>A
c.2268G>A (p.Val756=)
n.5460G>A
 gnomAD v4
14g.91273526A>CCA390610695CCDC88Cc.5186T>G (p.Val1729Gly)
c.758T>G (p.Val253Gly)
n.998T>G
c.1414T>G
c.5078T>G (p.Val1693Gly)
n.5461T>G
c.2267T>G (p.Val756Gly)
n.5459T>G
14g.91273526A>GCA390610693CCDC88Cc.5186T>C (p.Val1729Ala)
c.758T>C (p.Val253Ala)
n.998T>C
c.1414T>C
c.5078T>C (p.Val1693Ala)
n.5461T>C
c.2267T>C (p.Val756Ala)
n.5459T>C
14g.91273526A>TCA390610694CCDC88Cc.5186T>A (p.Val1729Glu)
c.758T>A (p.Val253Glu)
n.998T>A
c.1414T>A
c.5078T>A (p.Val1693Glu)
n.5461T>A
c.2267T>A (p.Val756Glu)
n.5459T>A
14g.91273527C>ACA390610696CCDC88Cc.5185G>T (p.Val1729Leu)
c.757G>T (p.Val253Leu)
n.997G>T
c.1413G>T
c.5077G>T (p.Val1693Leu)
n.5460G>T
c.2266G>T (p.Val756Leu)
n.5458G>T
 gnomAD v4
14g.91273527C>GCA390610697CCDC88Cc.5185G>C (p.Val1729Leu)
c.757G>C (p.Val253Leu)
n.997G>C
c.1413G>C
c.5077G>C (p.Val1693Leu)
n.5460G>C
c.2266G>C (p.Val756Leu)
n.5458G>C
14g.91273527C>TCA390610698CCDC88Cc.5185G>A (p.Val1729Met)
c.757G>A (p.Val253Met)
n.997G>A
c.1413G>A
c.5077G>A (p.Val1693Met)
n.5460G>A
c.2266G>A (p.Val756Met)
n.5458G>A
14g.91273528A>CCA390610699CCDC88Cc.5184T>G (p.Phe1728Leu)
c.756T>G (p.Phe252Leu)
n.996T>G
c.1412T>G
c.5076T>G (p.Phe1692Leu)
n.5459T>G
c.2265T>G (p.Phe755Leu)
n.5457T>G
14g.91273528A>GCA487829328CCDC88Cc.5184T>C (p.Phe1728=)
c.756T>C (p.Phe252=)
n.996T>C
c.1412T>C
c.5076T>C (p.Phe1692=)
n.5459T>C
c.2265T>C (p.Phe755=)
n.5457T>C
14g.91273528A>TCA390610700CCDC88Cc.5184T>A (p.Phe1728Leu)
c.756T>A (p.Phe252Leu)
n.996T>A
c.1412T>A
c.5076T>A (p.Phe1692Leu)
n.5459T>A
c.2265T>A (p.Phe755Leu)
n.5457T>A
 gnomAD v4
14g.91273529A=CA2154902614CCDC88Cc.5183T= (p.Phe1728=)
c.755T= (p.Phe252=)
n.995T=
c.1411T=
c.5075T= (p.Phe1692=)
n.5458T=
c.2264T= (p.Phe755=)
n.5456T=
14g.91273529A>CCA390610702CCDC88Cc.5183T>G (p.Phe1728Cys)
c.755T>G (p.Phe252Cys)
n.995T>G
c.1411T>G
c.5075T>G (p.Phe1692Cys)
n.5458T>G
c.2264T>G (p.Phe755Cys)
n.5456T>G
 dbSNP gnomAD v4
14g.91273529A>GCA7308715CCDC88Cc.5183T>C (p.Phe1728Ser)
c.755T>C (p.Phe252Ser)
n.995T>C
c.1411T>C
c.5075T>C (p.Phe1692Ser)
n.5458T>C
c.2264T>C (p.Phe755Ser)
n.5456T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273529A>TCA390610701CCDC88Cc.5183T>A (p.Phe1728Tyr)
c.755T>A (p.Phe252Tyr)
n.995T>A
c.1411T>A
c.5075T>A (p.Phe1692Tyr)
n.5458T>A
c.2264T>A (p.Phe755Tyr)
n.5456T>A
14g.91273530A=CA2154902621CCDC88Cc.5182T= (p.Phe1728=)
c.754T= (p.Phe252=)
n.994T=
c.1410T=
c.5074T= (p.Phe1692=)
n.5457T=
c.2263T= (p.Phe755=)
n.5455T=
14g.91273530A>CCA390610703CCDC88Cc.5182T>G (p.Phe1728Val)
c.754T>G (p.Phe252Val)
n.994T>G
c.1410T>G
c.5074T>G (p.Phe1692Val)
n.5457T>G
c.2263T>G (p.Phe755Val)
n.5455T>G
14g.91273530A>GCA390610704CCDC88Cc.5182T>C (p.Phe1728Leu)
c.754T>C (p.Phe252Leu)
n.994T>C
c.1410T>C
c.5074T>C (p.Phe1692Leu)
n.5457T>C
c.2263T>C (p.Phe755Leu)
n.5455T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.91273530A>TCA390610705CCDC88Cc.5182T>A (p.Phe1728Ile)
c.754T>A (p.Phe252Ile)
n.994T>A
c.1410T>A
c.5074T>A (p.Phe1692Ile)
n.5457T>A
c.2263T>A (p.Phe755Ile)
n.5455T>A
14g.91273531G>ACA7308716CCDC88Cc.5181C>T (p.Asn1727=)
c.753C>T (p.Asn251=)
n.993C>T
c.1409C>T
c.5073C>T (p.Asn1691=)
n.5456C>T
c.2262C>T (p.Asn754=)
n.5454C>T
 ClinVar dbSNP ExAC gnomAD v4
14g.91273531G>CCA390610706CCDC88Cc.5181C>G (p.Asn1727Lys)
c.753C>G (p.Asn251Lys)
n.993C>G
c.1409C>G
c.5073C>G (p.Asn1691Lys)
n.5456C>G
c.2262C>G (p.Asn754Lys)
n.5454C>G
14g.91273531G=CA2154902627CCDC88Cc.5181C= (p.Asn1727=)
c.753C= (p.Asn251=)
n.993C=
c.1409C=
c.5073C= (p.Asn1691=)
n.5456C=
c.2262C= (p.Asn754=)
n.5454C=
14g.91273531G>TCA390610707CCDC88Cc.5181C>A (p.Asn1727Lys)
c.753C>A (p.Asn251Lys)
n.993C>A
c.1409C>A
c.5073C>A (p.Asn1691Lys)
n.5456C>A
c.2262C>A (p.Asn754Lys)
n.5454C>A
14g.91273532T>ACA390610708CCDC88Cc.5180A>T (p.Asn1727Ile)
c.752A>T (p.Asn251Ile)
n.992A>T
c.1408A>T
c.5072A>T (p.Asn1691Ile)
n.5455A>T
c.2261A>T (p.Asn754Ile)
n.5453A>T
14g.91273532T>CCA390610709CCDC88Cc.5180A>G (p.Asn1727Ser)
c.752A>G (p.Asn251Ser)
n.992A>G
c.1408A>G
c.5072A>G (p.Asn1691Ser)
n.5455A>G
c.2261A>G (p.Asn754Ser)
n.5453A>G
 gnomAD v4
14g.91273532T>GCA390610710CCDC88Cc.5180A>C (p.Asn1727Thr)
c.752A>C (p.Asn251Thr)
n.992A>C
c.1408A>C
c.5072A>C (p.Asn1691Thr)
n.5455A>C
c.2261A>C (p.Asn754Thr)
n.5453A>C
 dbSNP
14g.91273532T=CA2154902632CCDC88Cc.5180A= (p.Asn1727=)
c.752A= (p.Asn251=)
n.992A=
c.1408A=
c.5072A= (p.Asn1691=)
n.5455A=
c.2261A= (p.Asn754=)
n.5453A=
14g.91273533T>ACA390610711CCDC88Cc.5179A>T (p.Asn1727Tyr)
c.751A>T (p.Asn251Tyr)
n.991A>T
c.1407A>T
c.5071A>T (p.Asn1691Tyr)
n.5454A>T
c.2260A>T (p.Asn754Tyr)
n.5452A>T
14g.91273533T>CCA390610712CCDC88Cc.5179A>G (p.Asn1727Asp)
c.751A>G (p.Asn251Asp)
n.991A>G
c.1407A>G
c.5071A>G (p.Asn1691Asp)
n.5454A>G
c.2260A>G (p.Asn754Asp)
n.5452A>G
14g.91273533T>GCA390610713CCDC88Cc.5179A>C (p.Asn1727His)
c.751A>C (p.Asn251His)
n.991A>C
c.1407A>C
c.5071A>C (p.Asn1691His)
n.5454A>C
c.2260A>C (p.Asn754His)
n.5452A>C
14g.91273534G>ACA487829329CCDC88Cc.5178C>T (p.Thr1726=)
c.750C>T (p.Thr250=)
n.990C>T
c.1406C>T
c.5070C>T (p.Thr1690=)
n.5453C>T
c.2259C>T (p.Thr753=)
n.5451C>T
14g.91273534G>CCA487829330CCDC88Cc.5178C>G (p.Thr1726=)
c.750C>G (p.Thr250=)
n.990C>G
c.1406C>G
c.5070C>G (p.Thr1690=)
n.5453C>G
c.2259C>G (p.Thr753=)
n.5451C>G
 gnomAD v4
14g.91273534G>TCA487829331CCDC88Cc.5178C>A (p.Thr1726=)
c.750C>A (p.Thr250=)
n.990C>A
c.1406C>A
c.5070C>A (p.Thr1690=)
n.5453C>A
c.2259C>A (p.Thr753=)
n.5451C>A
14g.91273535G>ACA7308717CCDC88Cc.5177C>T (p.Thr1726Ile)
c.749C>T (p.Thr250Ile)
n.989C>T
c.1405C>T
c.5069C>T (p.Thr1690Ile)
n.5452C>T
c.2258C>T (p.Thr753Ile)
n.5450C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.91273535G>CCA390610714CCDC88Cc.5177C>G (p.Thr1726Ser)
c.749C>G (p.Thr250Ser)
n.989C>G
c.1405C>G
c.5069C>G (p.Thr1690Ser)
n.5452C>G
c.2258C>G (p.Thr753Ser)
n.5450C>G
 gnomAD v4
14g.91273535G=CA2154902640CCDC88Cc.5177C= (p.Thr1726=)
c.749C= (p.Thr250=)
n.989C=
c.1405C=
c.5069C= (p.Thr1690=)
n.5452C=
c.2258C= (p.Thr753=)
n.5450C=
14g.91273535G>TCA265518508CCDC88Cc.5177C>A (p.Thr1726Asn)
c.749C>A (p.Thr250Asn)
n.989C>A
c.1405C>A
c.5069C>A (p.Thr1690Asn)
n.5452C>A
c.2258C>A (p.Thr753Asn)
n.5450C>A
 dbSNP gnomAD v4
14g.91273536T>ACA390610715CCDC88Cc.5176A>T (p.Thr1726Ser)
c.748A>T (p.Thr250Ser)
n.988A>T
c.1404A>T
c.5068A>T (p.Thr1690Ser)
n.5451A>T
c.2257A>T (p.Thr753Ser)
n.5449A>T
14g.91273536T>CCA390610717CCDC88Cc.5176A>G (p.Thr1726Ala)
c.748A>G (p.Thr250Ala)
n.988A>G
c.1404A>G
c.5068A>G (p.Thr1690Ala)
n.5451A>G
c.2257A>G (p.Thr753Ala)
n.5449A>G
 gnomAD v4
14g.91273536T>GCA390610716CCDC88Cc.5176A>C (p.Thr1726Pro)
c.748A>C (p.Thr250Pro)
n.988A>C
c.1404A>C
c.5068A>C (p.Thr1690Pro)
n.5451A>C
c.2257A>C (p.Thr753Pro)
n.5449A>C
 dbSNP
14g.91273536T=CA2154902644CCDC88Cc.5176A= (p.Thr1726=)
c.748A= (p.Thr250=)
n.988A=
c.1404A=
c.5068A= (p.Thr1690=)
n.5451A=
c.2257A= (p.Thr753=)
n.5449A=
14g.91273537G>ACA487829332CCDC88Cc.5175C>T (p.Pro1725=)
c.747C>T (p.Pro249=)
n.987C>T
c.1403C>T
c.5067C>T (p.Pro1689=)
n.5450C>T
c.2256C>T (p.Pro752=)
n.5448C>T
 gnomAD v4
14g.91273537G>CCA487829333CCDC88Cc.5175C>G (p.Pro1725=)
c.747C>G (p.Pro249=)
n.987C>G
c.1403C>G
c.5067C>G (p.Pro1689=)
n.5450C>G
c.2256C>G (p.Pro752=)
n.5448C>G
14g.91273537G>TCA487829334CCDC88Cc.5175C>A (p.Pro1725=)
c.747C>A (p.Pro249=)
n.987C>A
c.1403C>A
c.5067C>A (p.Pro1689=)
n.5450C>A
c.2256C>A (p.Pro752=)
n.5448C>A
 gnomAD v4
14g.91273539delCA2626123447CCDC88Cc.5175del (p.Thr1726ProfsTer20)
c.747del (p.Thr250ProfsTer20)
n.987del
c.1403del
c.5067del (p.Thr1690ProfsTer20)
n.5450del
c.2256del (p.Thr753ProfsTer20)
n.5448del
 gnomAD v4
14g.91273538G>ACA390610718CCDC88Cc.5174C>T (p.Pro1725Leu)
c.746C>T (p.Pro249Leu)
n.986C>T
c.1402C>T
c.5066C>T (p.Pro1689Leu)
n.5449C>T
c.2255C>T (p.Pro752Leu)
n.5447C>T
 gnomAD v4
14g.91273538G>CCA390610719CCDC88Cc.5174C>G (p.Pro1725Arg)
c.746C>G (p.Pro249Arg)
n.986C>G
c.1402C>G
c.5066C>G (p.Pro1689Arg)
n.5449C>G
c.2255C>G (p.Pro752Arg)
n.5447C>G
14g.91273538G>TCA390610720CCDC88Cc.5174C>A (p.Pro1725His)
c.746C>A (p.Pro249His)
n.986C>A
c.1402C>A
c.5066C>A (p.Pro1689His)
n.5449C>A
c.2255C>A (p.Pro752His)
n.5447C>A
 gnomAD v4
14g.91273539G>ACA390610721CCDC88Cc.5173C>T (p.Pro1725Ser)
c.745C>T (p.Pro249Ser)
n.985C>T
c.1401C>T
c.5065C>T (p.Pro1689Ser)
n.5448C>T
c.2254C>T (p.Pro752Ser)
n.5446C>T
 gnomAD v4
14g.91273539G>CCA390610722CCDC88Cc.5173C>G (p.Pro1725Ala)
c.745C>G (p.Pro249Ala)
n.985C>G
c.1401C>G
c.5065C>G (p.Pro1689Ala)
n.5448C>G
c.2254C>G (p.Pro752Ala)
n.5446C>G
14g.91273539G>TCA390610723CCDC88Cc.5173C>A (p.Pro1725Thr)
c.745C>A (p.Pro249Thr)
n.985C>A
c.1401C>A
c.5065C>A (p.Pro1689Thr)
n.5448C>A
c.2254C>A (p.Pro752Thr)
n.5446C>A
14g.91273540C>ACA265518515CCDC88Cc.5172G>T (p.Met1724Ile)
c.744G>T (p.Met248Ile)
n.984G>T
c.1400G>T
c.5064G>T (p.Met1688Ile)
n.5447G>T
c.2253G>T (p.Met751Ile)
n.5445G>T
 dbSNP gnomAD v2 gnomAD v4
14g.91273540C=CA2154902655CCDC88Cc.5172G= (p.Met1724=)
c.744G= (p.Met248=)
n.984G=
c.1400G=
c.5064G= (p.Met1688=)
n.5447G=
c.2253G= (p.Met751=)
n.5445G=
14g.91273540C>GCA390610724CCDC88Cc.5172G>C (p.Met1724Ile)
c.744G>C (p.Met248Ile)
n.984G>C
c.1400G>C
c.5064G>C (p.Met1688Ile)
n.5447G>C
c.2253G>C (p.Met751Ile)
n.5445G>C
 dbSNP
14g.91273540C>TCA390610725CCDC88Cc.5172G>A (p.Met1724Ile)
c.744G>A (p.Met248Ile)
n.984G>A
c.1400G>A
c.5064G>A (p.Met1688Ile)
n.5447G>A
c.2253G>A (p.Met751Ile)
n.5445G>A
 gnomAD v4
14g.91273541A>CCA390610726CCDC88Cc.5171T>G (p.Met1724Arg)
c.743T>G (p.Met248Arg)
n.983T>G
c.1399T>G
c.5063T>G (p.Met1688Arg)
n.5446T>G
c.2252T>G (p.Met751Arg)
n.5444T>G
14g.91273541A>GCA390610727CCDC88Cc.5171T>C (p.Met1724Thr)
c.743T>C (p.Met248Thr)
n.983T>C
c.1399T>C
c.5063T>C (p.Met1688Thr)
n.5446T>C
c.2252T>C (p.Met751Thr)
n.5444T>C
14g.91273541A>TCA390610728CCDC88Cc.5171T>A (p.Met1724Lys)
c.743T>A (p.Met248Lys)
n.983T>A
c.1399T>A
c.5063T>A (p.Met1688Lys)
n.5446T>A
c.2252T>A (p.Met751Lys)
n.5444T>A
14g.91273542T>ACA390610731CCDC88Cc.5170A>T (p.Met1724Leu)
c.742A>T (p.Met248Leu)
n.982A>T
c.1398A>T
c.5062A>T (p.Met1688Leu)
n.5445A>T
c.2251A>T (p.Met751Leu)
n.5443A>T
14g.91273542T>CCA390610729CCDC88Cc.5170A>G (p.Met1724Val)
c.742A>G (p.Met248Val)
n.982A>G
c.1398A>G
c.5062A>G (p.Met1688Val)
n.5445A>G
c.2251A>G (p.Met751Val)
n.5443A>G
 dbSNP gnomAD v2 gnomAD v4
14g.91273542T>GCA390610730CCDC88Cc.5170A>C (p.Met1724Leu)
c.742A>C (p.Met248Leu)
n.982A>C
c.1398A>C
c.5062A>C (p.Met1688Leu)
n.5445A>C
c.2251A>C (p.Met751Leu)
n.5443A>C
14g.91273542T=CA2154902662CCDC88Cc.5170A= (p.Met1724=)
c.742A= (p.Met248=)
n.982A=
c.1398A=
c.5062A= (p.Met1688=)
n.5445A=
c.2251A= (p.Met751=)
n.5443A=
14g.91273543C>ACA390610732CCDC88Cc.5169G>T (p.Lys1723Asn)
c.741G>T (p.Lys247Asn)
n.981G>T
c.1397G>T
c.5061G>T (p.Lys1687Asn)
n.5444G>T
c.2250G>T (p.Lys750Asn)
n.5442G>T
 gnomAD v4
14g.91273543C=CA2154902666CCDC88Cc.5169G= (p.Lys1723=)
c.741G= (p.Lys247=)
n.981G=
c.1397G=
c.5061G= (p.Lys1687=)
n.5444G=
c.2250G= (p.Lys750=)
n.5442G=
14g.91273543C>GCA390610733CCDC88Cc.5169G>C (p.Lys1723Asn)
c.741G>C (p.Lys247Asn)
n.981G>C
c.1397G>C
c.5061G>C (p.Lys1687Asn)
n.5444G>C
c.2250G>C (p.Lys750Asn)
n.5442G>C
14g.91273543C>TCA487829335CCDC88Cc.5169G>A (p.Lys1723=)
c.741G>A (p.Lys247=)
n.981G>A
c.1397G>A
c.5061G>A (p.Lys1687=)
n.5444G>A
c.2250G>A (p.Lys750=)
n.5442G>A
 dbSNP gnomAD v4
14g.91273544T>ACA390610734CCDC88Cc.5168A>T (p.Lys1723Met)
c.740A>T (p.Lys247Met)
n.980A>T
c.1396A>T
c.5060A>T (p.Lys1687Met)
n.5443A>T
c.2249A>T (p.Lys750Met)
n.5441A>T
14g.91273544T>CCA390610735CCDC88Cc.5168A>G (p.Lys1723Arg)
c.740A>G (p.Lys247Arg)
n.980A>G
c.1396A>G
c.5060A>G (p.Lys1687Arg)
n.5443A>G
c.2249A>G (p.Lys750Arg)
n.5441A>G
 gnomAD v4
14g.91273544T>GCA390610736CCDC88Cc.5168A>C (p.Lys1723Thr)
c.740A>C (p.Lys247Thr)
n.980A>C
c.1396A>C
c.5060A>C (p.Lys1687Thr)
n.5443A>C
c.2249A>C (p.Lys750Thr)
n.5441A>C

Number of alleles fetched