Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74259547C>TCA2625651031VSX2c.580-55C>T (n.580-55C>T)
gnomAD v4
14g.74259549T>CCA708517462VSX2c.580-53T>C (n.580-53T>C)
dbSNP gnomAD v4
14g.74259549T=CA2146964426VSX2c.580-53T= (n.580-53T=)
14g.74259550T>CCA263556345VSX2c.580-52T>C (n.580-52T>C)
dbSNP
14g.74259550T>GCA2625651032VSX2c.580-52T>G (n.580-52T>G)
gnomAD v4
14g.74259550T=CA2146964427VSX2c.580-52T= (n.580-52T=)
14g.74259551G>ACA615033748VSX2c.580-51G>A (n.580-51G>A)
dbSNP gnomAD v2 gnomAD v4
14g.74259551G=CA2146964428VSX2c.580-51G= (n.580-51G=)
14g.74259553G>ACA2146964430VSX2c.580-49G>A (n.580-49G>A)
dbSNP
14g.74259553G=CA2146964429VSX2c.580-49G= (n.580-49G=)
14g.74259554C>ACA2146964432VSX2c.580-48C>A (n.580-48C>A)
dbSNP
14g.74259554C=CA2146964431VSX2c.580-48C= (n.580-48C=)
14g.74259554C>TCA7266379VSX2c.580-48C>T (n.580-48C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259556dupCA2730029659VSX2c.580-46dup (n.580-46dup)
dbSNP
14g.74259556delCA2802149049VSX2c.580-46del (n.580-46del)
14g.74259556C>ACA7266381VSX2c.580-46C>A (n.580-46C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259556C=CA2146964433VSX2c.580-46C= (n.580-46C=)
14g.74259556C>TCA7266380VSX2c.580-46C>T (n.580-46C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259557A=CA2146964434VSX2c.580-45A= (n.580-45A=)
14g.74259557A>CCA7266382VSX2c.580-45A>C (n.580-45A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259557_74259558delinsAGCA2146964435VSX2c.580-45_580-44delinsAG (n.580-45_580-44delinsAG)
14g.74259557_74259558delinsCACA263556373VSX2c.580-45_580-44delinsCA (n.580-45_580-44delinsCA)
dbSNP
14g.74259558delCA708517471VSX2c.580-44del (n.580-44del)
dbSNP
14g.74259558G>ACA7266383VSX2c.580-44G>A (n.580-44G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259558G=CA2146964436VSX2c.580-44G= (n.580-44G=)
14g.74259559C>ACA2575575842VSX2c.580-43C>A (n.580-43C>A)
gnomAD v4
14g.74259560A=CA2146964437VSX2c.580-42A= (n.580-42A=)
14g.74259560A>CCA2146964438VSX2c.580-42A>C (n.580-42A>C)
dbSNP
14g.74259560A>GCA964715383VSX2c.580-42A>G (n.580-42A>G)
dbSNP gnomAD v3 gnomAD v4
14g.74259561C=CA2146964439VSX2c.580-41C= (n.580-41C=)
14g.74259561C>TCA615033749VSX2c.580-41C>T (n.580-41C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74259562C>ACA2568287800VSX2c.580-40C>A (n.580-40C>A)
14g.74259562C>TCA2625651033VSX2c.580-40C>T (n.580-40C>T)
gnomAD v4
14g.74259566C=CA2146964440VSX2c.580-36C= (n.580-36C=)
14g.74259566C>TCA263556391VSX2c.580-36C>T (n.580-36C>T)
dbSNP
14g.74259568G>TCA2508668464VSX2c.580-34G>T (n.580-34G>T)
14g.74259572_74259575delCA2625651034VSX2c.580-30_580-27del (n.580-30_580-27del)
gnomAD v4
14g.74259571C=CA2146964441VSX2c.580-31C= (n.580-31C=)
14g.74259571C>GCA7266384VSX2c.580-31C>G (n.580-31C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259572A>GCA2625651035VSX2c.580-30A>G (n.580-30A>G)
gnomAD v4
14g.74259573A>GCA2625651036VSX2c.580-29A>G (n.580-29A>G)
gnomAD v4
14g.74259575C>ACA615033750VSX2c.580-27C>A (n.580-27C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74259575C=CA2146964442VSX2c.580-27C= (n.580-27C=)
14g.74259575C>GCA7266385VSX2c.580-27C>G (n.580-27C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259576C>GCA2548945435VSX2c.580-26C>G (n.580-26C>G)
gnomAD v4
14g.74259577T>CCA2575575843VSX2c.580-25T>C (n.580-25T>C)
14g.74259578C>TCA2625651037VSX2c.580-24C>T (n.580-24C>T)
gnomAD v4
14g.74259580G>ACA2625651038VSX2c.580-22G>A (n.580-22G>A)
gnomAD v4
14g.74259581A=CA2146964443VSX2c.580-21A= (n.580-21A=)
14g.74259581A>GCA7266386VSX2c.580-21A>G (n.580-21A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259582C>ACA2575575844VSX2c.580-20C>A (n.580-20C>A)
gnomAD v4
14g.74259582C>TCA2625651039VSX2c.580-20C>T (n.580-20C>T)
gnomAD v4
14g.74259584T>GCA964715391VSX2c.580-18T>G (n.580-18T>G)
dbSNP gnomAD v3 gnomAD v4
14g.74259584T=CA2146964444VSX2c.580-18T= (n.580-18T=)
14g.74259587T>CCA615033751VSX2c.580-15T>C (n.580-15T>C)
dbSNP gnomAD v2 gnomAD v4
14g.74259587T=CA2146964445VSX2c.580-15T= (n.580-15T=)
14g.74259589T>CCA964715392VSX2c.580-13T>C (n.580-13T>C)
dbSNP gnomAD v3 gnomAD v4
14g.74259589T=CA2146964446VSX2c.580-13T= (n.580-13T=)
14g.74259590G>ACA2697551982VSX2c.580-12G>A (n.580-12G>A)
ClinVar
14g.74259590G>CCA7266388VSX2c.580-12G>C (n.580-12G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259590G=CA2146964447VSX2c.580-12G= (n.580-12G=)
14g.74259590G>TCA7266387VSX2c.580-12G>T (n.580-12G>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259592G>ACA2625651040VSX2c.580-10G>A (n.580-10G>A)
gnomAD v4
14g.74259594A=CA2146964448VSX2c.580-8A= (n.580-8A=)
14g.74259594A>CCA2146964449VSX2c.580-8A>C (n.580-8A>C)
dbSNP
14g.74259594A>GCA2146964450VSX2c.580-8A>G (n.580-8A>G)
ClinVar dbSNP
14g.74259595C>TCA2499222720VSX2c.580-7C>T (n.580-7C>T)
ClinVar dbSNP
14g.74259596C>ACA7266389VSX2c.580-6C>A (n.580-6C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259596C=CA2146964451VSX2c.580-6C= (n.580-6C=)
14g.74259598G>ACA2625651041VSX2c.580-4G>A (n.580-4G>A)
gnomAD v4
14g.74259599C>ACA615033752VSX2c.580-3C>A (n.580-3C>A)
dbSNP gnomAD v2 gnomAD v4
14g.74259599C=CA2146964452VSX2c.580-3C= (n.580-3C=)
14g.74259600A>CCA390368958VSX2c.580-2A>C (n.580-2A>C)
ClinVar
14g.74259600A>GCA390368961VSX2c.580-2A>G (n.580-2A>G)
14g.74259600A>TCA390368963VSX2c.580-2A>T (n.580-2A>T)
14g.74259601G>ACA390368972VSX2c.580-1G>A (n.580-1G>A)
14g.74259601G>CCA390368970VSX2c.580-1G>C (n.580-1G>C)
14g.74259601G>TCA390368968VSX2c.580-1G>T (n.580-1G>T)
14g.74259602G>ACA7266390VSX2c.580G>A (p.Val194Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259602G>CCA390368976VSX2c.580G>C (p.Val194Leu)
14g.74259602G=CA2146964453VSX2c.580G= (p.Val194=)
14g.74259602G>TCA390368978VSX2c.580G>T (p.Val194Phe)
14g.74259603T>ACA390368983VSX2c.581T>A (p.Val194Asp)
14g.74259603T>CCA390368986VSX2c.581T>C (p.Val194Ala)
14g.74259603T>GCA390368988VSX2c.581T>G (p.Val194Gly)
14g.74259604C>ACA487155793VSX2c.582C>A (p.Val194=)
14g.74259604C=CA2146964454VSX2c.582C= (p.Val194=)
14g.74259604C>GCA487155794VSX2c.582C>G (p.Val194=)
14g.74259604C>TCA487155795VSX2c.582C>T (p.Val194=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.74259605T>ACA390368992VSX2c.583T>A (p.Trp195Arg)
14g.74259605T>CCA390368994VSX2c.583T>C (p.Trp195Arg)
14g.74259605T>GCA390368996VSX2c.583T>G (p.Trp195Gly)
14g.74259606G>ACA7266391VSX2c.584G>A (p.Trp195Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259606G>CCA390369001VSX2c.584G>C (p.Trp195Ser)
14g.74259606G=CA2146964455VSX2c.584G= (p.Trp195=)
14g.74259606G>TCA390369002VSX2c.584G>T (p.Trp195Leu)
14g.74259607G>ACA390369011VSX2c.585G>A (p.Trp195Ter)
14g.74259607G>CCA390369008VSX2c.585G>C (p.Trp195Cys)
14g.74259607G>TCA390369006VSX2c.585G>T (p.Trp195Cys)
14g.74259608T>ACA390369014VSX2c.586T>A (p.Phe196Ile)
14g.74259608T>CCA390369016VSX2c.586T>C (p.Phe196Leu)
14g.74259608T>GCA390369018VSX2c.586T>G (p.Phe196Val)
14g.74259609T>ACA390369021VSX2c.587T>A (p.Phe196Tyr)
14g.74259609T>CCA390369023VSX2c.587T>C (p.Phe196Ser)
14g.74259609T>GCA390369026VSX2c.587T>G (p.Phe196Cys)
14g.74259610C>ACA390369030VSX2c.588C>A (p.Phe196Leu)
14g.74259610C>GCA390369033VSX2c.588C>G (p.Phe196Leu)
14g.74259610C>TCA487155797VSX2c.588C>T (p.Phe196=)
14g.74259611C>ACA390369038VSX2c.589C>A (p.Gln197Lys)
14g.74259611C>GCA390369040VSX2c.589C>G (p.Gln197Glu)
14g.74259611C>TCA390369042VSX2c.589C>T (p.Gln197Ter)
ClinVar dbSNP
14g.74259612A>CCA390369047VSX2c.590A>C (p.Gln197Pro)
14g.74259612A>GCA390369049VSX2c.590A>G (p.Gln197Arg)
14g.74259612A>TCA390369051VSX2c.590A>T (p.Gln197Leu)
14g.74259613G>ACA487155809VSX2c.591G>A (p.Gln197=)
14g.74259613G>CCA390369054VSX2c.591G>C (p.Gln197His)
14g.74259613G>TCA390369056VSX2c.591G>T (p.Gln197His)
14g.74259613_74259618dupCA2625651042VSX2c.591_596dup (p.Arg199_Arg200insAsnArg)
gnomAD v4
14g.74259614A>CCA390369060VSX2c.592A>C (p.Asn198His)
14g.74259614A>GCA390369062VSX2c.592A>G (p.Asn198Asp)
14g.74259614A>TCA390369065VSX2c.592A>T (p.Asn198Tyr)
14g.74259615A=CA2146964456VSX2c.593A= (p.Asn198=)
14g.74259615A>CCA390369068VSX2c.593A>C (p.Asn198Thr)
dbSNP
14g.74259615A>GCA390369071VSX2c.593A>G (p.Asn198Ser)
14g.74259615A>TCA390369073VSX2c.593A>T (p.Asn198Ile)
gnomAD v4
14g.74259616C>ACA390369077VSX2c.594C>A (p.Asn198Lys)
14g.74259616C>GCA390369079VSX2c.594C>G (p.Asn198Lys)
14g.74259616C>TCA487155810VSX2c.594C>T (p.Asn198=)
gnomAD v4
14g.74259617C>ACA390369081VSX2c.595C>A (p.Arg199Ser)
14g.74259617C=CA2146964457VSX2c.595C= (p.Arg199=)
14g.74259617C>GCA390369084VSX2c.595C>G (p.Arg199Gly)
14g.74259617C>TCA7266392VSX2c.595C>T (p.Arg199Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.74259618G>ACA7266393VSX2c.596G>A (p.Arg199His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259618G>CCA390369091VSX2c.596G>C (p.Arg199Pro)
14g.74259618G=CA2146964458VSX2c.596G= (p.Arg199=)
14g.74259618G>TCA390369090VSX2c.596G>T (p.Arg199Leu)
gnomAD v4
14g.74259619T>ACA487155814VSX2c.597T>A (p.Arg199=)
14g.74259619T>CCA487155816VSX2c.597T>C (p.Arg199=)
14g.74259619T>GCA487155815VSX2c.597T>G (p.Arg199=)
14g.74259620C>ACA487155817VSX2c.598C>A (p.Arg200=)
ClinVar dbSNP
14g.74259620C=CA2146964459VSX2c.598C= (p.Arg200=)
14g.74259620C>GCA7266395VSX2c.598C>G (p.Arg200Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259620C>TCA7266394VSX2c.598C>T (p.Arg200Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259621G>ACA124412VSX2c.599G>A (p.Arg200Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74259621G>CCA124413VSX2c.599G>C (p.Arg200Pro)
ClinVar dbSNP gnomAD v4
14g.74259621G=CA2146964460VSX2c.599G= (p.Arg200=)
14g.74259621G>TCA390369101VSX2c.599G>T (p.Arg200Leu)
14g.74259622A=CA2146964461VSX2c.600A= (p.Arg200=)
14g.74259622A>CCA7266396VSX2c.600A>C (p.Arg200=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259622A>GCA487155818VSX2c.600A>G (p.Arg200=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.74259622A>TCA487155819VSX2c.600A>T (p.Arg200=)
14g.74259623G>ACA390369105VSX2c.601G>A (p.Ala201Thr)
14g.74259623G>CCA390369108VSX2c.601G>C (p.Ala201Pro)
14g.74259623G>TCA390369110VSX2c.601G>T (p.Ala201Ser)
14g.74259624C>ACA390369114VSX2c.602C>A (p.Ala201Asp)
14g.74259624C>GCA390369116VSX2c.602C>G (p.Ala201Gly)
14g.74259624C>TCA390369119VSX2c.602C>T (p.Ala201Val)
14g.74259625C>ACA487155820VSX2c.603C>A (p.Ala201=)
14g.74259625C=CA2146964462VSX2c.603C= (p.Ala201=)
14g.74259625C>GCA487155821VSX2c.603C>G (p.Ala201=)
14g.74259625C>TCA487155822VSX2c.603C>T (p.Ala201=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74259626A>CCA390369122VSX2c.604A>C (p.Lys202Gln)
14g.74259626A>GCA390369124VSX2c.604A>G (p.Lys202Glu)
14g.74259626A>TCA390369127VSX2c.604A>T (p.Lys202Ter)
14g.74259627A>CCA390369137VSX2c.605A>C (p.Lys202Thr)
14g.74259627A>GCA390369131VSX2c.605A>G (p.Lys202Arg)
gnomAD v4
14g.74259627A>TCA390369134VSX2c.605A>T (p.Lys202Met)
14g.74259628G>ACA7266397VSX2c.606G>A (p.Lys202=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259628G>CCA390369141VSX2c.606G>C (p.Lys202Asn)
gnomAD v4
14g.74259628G=CA2146964463VSX2c.606G= (p.Lys202=)
14g.74259628G>TCA390369143VSX2c.606G>T (p.Lys202Asn)
14g.74259629T>ACA390369147VSX2c.607T>A (p.Trp203Arg)
14g.74259629T>CCA390369149VSX2c.607T>C (p.Trp203Arg)
14g.74259629T>GCA390369152VSX2c.607T>G (p.Trp203Gly)
14g.74259630G>ACA390369155VSX2c.608G>A (p.Trp203Ter)
ClinVar dbSNP
14g.74259630G>CCA390369158VSX2c.608G>C (p.Trp203Ser)
14g.74259630G>TCA390369160VSX2c.608G>T (p.Trp203Leu)
14g.74259631G>ACA390369164VSX2c.609G>A (p.Trp203Ter)
ClinVar dbSNP gnomAD v4
14g.74259631G>CCA390369166VSX2c.609G>C (p.Trp203Cys)
14g.74259631G=CA2146964464VSX2c.609G= (p.Trp203=)
14g.74259631G>TCA390369169VSX2c.609G>T (p.Trp203Cys)
14g.74259632A=CA2146964465VSX2c.610A= (p.Arg204=)
14g.74259632A>CCA487155828VSX2c.610A>C (p.Arg204=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.74259632A>GCA390369173VSX2c.610A>G (p.Arg204Gly)
14g.74259632A>TCA390369175VSX2c.610A>T (p.Arg204Trp)
14g.74259633G>ACA390369179VSX2c.611G>A (p.Arg204Lys)
dbSNP gnomAD v2 gnomAD v4
14g.74259633G>CCA390369181VSX2c.611G>C (p.Arg204Thr)
14g.74259633G=CA2146964466VSX2c.611G= (p.Arg204=)
14g.74259633G>TCA390369184VSX2c.611G>T (p.Arg204Met)
14g.74259634G>ACA487155830VSX2c.612G>A (p.Arg204=)
ClinVar dbSNP
14g.74259634G>CCA7266398VSX2c.612G>C (p.Arg204Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259634G=CA2146964467VSX2c.612G= (p.Arg204=)
14g.74259634G>TCA390369188VSX2c.612G>T (p.Arg204Ser)
14g.74259635A>CCA390369191VSX2c.613A>C (p.Lys205Gln)
14g.74259635A>GCA390369192VSX2c.613A>G (p.Lys205Glu)
14g.74259635A>TCA390369193VSX2c.613A>T (p.Lys205Ter)
14g.74259636A>CCA390369194VSX2c.614A>C (p.Lys205Thr)
14g.74259636A>GCA390369195VSX2c.614A>G (p.Lys205Arg)
gnomAD v4
14g.74259636A>TCA390369196VSX2c.614A>T (p.Lys205Met)
14g.74259637G>ACA487155834VSX2c.615G>A (p.Lys205=)
14g.74259637G>CCA390369197VSX2c.615G>C (p.Lys205Asn)
14g.74259637G>TCA390369198VSX2c.615G>T (p.Lys205Asn)
gnomAD v4
14g.74259638C>ACA487155835VSX2c.616C>A (p.Arg206=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.74259638C=CA2146964468VSX2c.616C= (p.Arg206=)
14g.74259638C>GCA390369199VSX2c.616C>G (p.Arg206Gly)
14g.74259638C>TCA7266399VSX2c.616C>T (p.Arg206Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259639G>ACA7266400VSX2c.617G>A (p.Arg206Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.74259639G>CCA390369200VSX2c.617G>C (p.Arg206Pro)
14g.74259639G=CA2146964469VSX2c.617G= (p.Arg206=)
14g.74259639G>TCA390369201VSX2c.617G>T (p.Arg206Leu)
14g.74259640G>ACA7266401VSX2c.618G>A (p.Arg206=)
ClinVar dbSNP ExAC gnomAD v2
14g.74259640G>CCA487155837VSX2c.618G>C (p.Arg206=)
14g.74259640G=CA2146964470VSX2c.618G= (p.Arg206=)
14g.74259640G>TCA487155836VSX2c.618G>T (p.Arg206=)
14g.74259641G>ACA390369202VSX2c.619G>A (p.Glu207Lys)
dbSNP gnomAD v2 gnomAD v4
14g.74259641G>CCA390369203VSX2c.619G>C (p.Glu207Gln)
14g.74259641G=CA2146964471VSX2c.619G= (p.Glu207=)
14g.74259641G>TCA390369204VSX2c.619G>T (p.Glu207Ter)
gnomAD v4
14g.74259642A=CA2146964472VSX2c.620A= (p.Glu207=)
14g.74259642A>CCA390369205VSX2c.620A>C (p.Glu207Ala)
14g.74259642A>GCA390369206VSX2c.620A>G (p.Glu207Gly)
14g.74259642A>TCA390369207VSX2c.620A>T (p.Glu207Val)
dbSNP gnomAD v2 gnomAD v4
14g.74259643G>ACA487155839VSX2c.621G>A (p.Glu207=)
gnomAD v4
14g.74259643G>CCA390369208VSX2c.621G>C (p.Glu207Asp)
14g.74259643G>TCA390369209VSX2c.621G>T (p.Glu207Asp)
14g.74259644A>CCA390369212VSX2c.622A>C (p.Lys208Gln)
14g.74259644A>GCA390369211VSX2c.622A>G (p.Lys208Glu)
14g.74259644A>TCA390369210VSX2c.622A>T (p.Lys208Ter)
14g.74259645A=CA2146964473VSX2c.623A= (p.Lys208=)
14g.74259645A>CCA390369213VSX2c.623A>C (p.Lys208Thr)
14g.74259645A>GCA390369215VSX2c.623A>G (p.Lys208Arg)
14g.74259645A>TCA390369214VSX2c.623A>T (p.Lys208Met)
dbSNP gnomAD v2 gnomAD v4
14g.74259646G>ACA487155844VSX2c.624G>A (p.Lys208=)
gnomAD v4
14g.74259646G>CCA390369216VSX2c.624G>C (p.Lys208Asn)
14g.74259646G>TCA390369217VSX2c.624G>T (p.Lys208Asn)
14g.74259647T>ACA390369218VSX2c.625T>A (p.Cys209Ser)
14g.74259647T>CCA390369219VSX2c.625T>C (p.Cys209Arg)
gnomAD v4
14g.74259647T>GCA7266402VSX2c.625T>G (p.Cys209Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74259647T=CA2146964474VSX2c.625T= (p.Cys209=)

Number of alleles fetched