Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.206766973_206766979delinsGGCATAACA1323320419FASTKD2c.280_286delinsGGCATAA (p.Gly94=)
n.338_344delinsGGCATAA
2g.206766977_206766982delCA2074851FASTKD2c.284_289del (p.Ile95_Ser96del)
n.342_347del
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206766978A=CA1323320422FASTKD2c.285A= (p.Ile95=)
n.343A=
2g.206766978A>CCA431114954FASTKD2c.285A>C (p.Ile95=)
n.343A>C
2g.206766978A>GCA350069502FASTKD2c.285A>G (p.Ile95Met)
n.343A>G
2g.206766978A>TCA431114956FASTKD2c.285A>T (p.Ile95=)
n.343A>T
dbSNP gnomAD v2
2g.206766979dupCA2662829146FASTKD2c.286dup (p.Ser96LysfsTer7)
n.344dup
gnomAD v4
2g.206766979A=CA1323320423FASTKD2c.286A= (p.Ser96=)
n.344A=
2g.206766979A>CCA350069503FASTKD2c.286A>C (p.Ser96Arg)
n.344A>C
2g.206766979A>GCA350069504FASTKD2c.286A>G (p.Ser96Gly)
n.344A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206766979A>TCA350069505FASTKD2c.286A>T (p.Ser96Cys)
n.344A>T
2g.206766980G>ACA350069506FASTKD2c.287G>A (p.Ser96Asn)
n.345G>A
gnomAD v4
2g.206766980G>CCA350069512FASTKD2c.287G>C (p.Ser96Thr)
n.345G>C
2g.206766980G>TCA350069508FASTKD2c.287G>T (p.Ser96Ile)
n.345G>T
2g.206766981C>ACA350069521FASTKD2c.288C>A (p.Ser96Arg)
n.346C>A
2g.206766981C=CA1323320424FASTKD2c.288C= (p.Ser96=)
n.346C=
2g.206766981C>GCA350069526FASTKD2c.288C>G (p.Ser96Arg)
n.346C>G
dbSNP gnomAD v3 gnomAD v4
2g.206766981C>TCA2074853FASTKD2c.288C>T (p.Ser96=)
n.346C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206766982A=CA1323320425FASTKD2c.289A= (p.Thr97=)
n.347A=
2g.206766982A>CCA350069539FASTKD2c.289A>C (p.Thr97Pro)
n.347A>C
2g.206766982A>GCA350069543FASTKD2c.289A>G (p.Thr97Ala)
n.347A>G
dbSNP gnomAD v2 gnomAD v4
2g.206766982A>TCA350069544FASTKD2c.289A>T (p.Thr97Ser)
n.347A>T
2g.206766983C>ACA350069546FASTKD2c.290C>A (p.Thr97Asn)
n.348C>A
2g.206766983C=CA1323320426FASTKD2c.290C= (p.Thr97=)
n.348C=
2g.206766983C>GCA2074854FASTKD2c.290C>G (p.Thr97Ser)
n.348C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206766983C>TCA350069545FASTKD2c.290C>T (p.Thr97Ile)
n.348C>T
gnomAD v4
2g.206766984T>ACA431114848FASTKD2c.291T>A (p.Thr97=)
n.349T>A
2g.206766984T>CCA431114849FASTKD2c.291T>C (p.Thr97=)
n.349T>C
2g.206766984T>GCA431114850FASTKD2c.291T>G (p.Thr97=)
n.349T>G
2g.206766985C>ACA350069549FASTKD2c.292C>A (p.Leu98Ile)
n.350C>A
2g.206766985C=CA1323320427FASTKD2c.292C= (p.Leu98=)
n.350C=
2g.206766985C>GCA2074855FASTKD2c.292C>G (p.Leu98Val)
n.350C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206766985C>TCA431114851FASTKD2c.292C>T (p.Leu98=)
n.350C>T
gnomAD v4
2g.206766986T>ACA350069555FASTKD2c.293T>A (p.Leu98Gln)
n.351T>A
2g.206766986T>CCA350069558FASTKD2c.293T>C (p.Leu98Pro)
n.351T>C
gnomAD v4
2g.206766986T>GCA350069564FASTKD2c.293T>G (p.Leu98Arg)
n.351T>G
2g.206766986dupCA2577223875FASTKD2c.293dup (p.Thr99AsnfsTer4)
n.351dup
2g.206766987A>CCA431114855FASTKD2c.294A>C (p.Leu98=)
n.352A>C
2g.206766987A>GCA431114853FASTKD2c.294A>G (p.Leu98=)
n.352A>G
2g.206766987A>TCA431114854FASTKD2c.294A>T (p.Leu98=)
n.352A>T
2g.206766988A>CCA350069574FASTKD2c.295A>C (p.Thr99Pro)
n.353A>C
2g.206766988A>GCA350069567FASTKD2c.295A>G (p.Thr99Ala)
n.353A>G
2g.206766988A>TCA350069570FASTKD2c.295A>T (p.Thr99Ser)
n.353A>T
2g.206766989C>ACA350069582FASTKD2c.296C>A (p.Thr99Lys)
n.354C>A
2g.206766989C>GCA350069585FASTKD2c.296C>G (p.Thr99Arg)
n.354C>G
2g.206766989C>TCA350069587FASTKD2c.296C>T (p.Thr99Ile)
n.354C>T
2g.206766990A=CA1323320428FASTKD2c.297A= (p.Thr99=)
n.355A=
2g.206766990A>CCA431114860FASTKD2c.297A>C (p.Thr99=)
n.355A>C
2g.206766990A>GCA431114861FASTKD2c.297A>G (p.Thr99=)
n.355A>G
dbSNP
2g.206766990A>TCA431114863FASTKD2c.297A>T (p.Thr99=)
n.355A>T
2g.206766991G>ACA350069589FASTKD2c.298G>A (p.Ala100Thr)
n.356G>A
COSMIC
2g.206766991G>CCA350069591FASTKD2c.298G>C (p.Ala100Pro)
n.356G>C
2g.206766991G=CA1323320429FASTKD2c.298G= (p.Ala100=)
n.356G=
2g.206766991G>TCA320128FASTKD2c.298G>T (p.Ala100Ser)
n.356G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206766992C>ACA350069596FASTKD2c.299C>A (p.Ala100Asp)
n.357C>A
2g.206766992C>GCA350069614FASTKD2c.299C>G (p.Ala100Gly)
n.357C>G
2g.206766992C>TCA350069617FASTKD2c.299C>T (p.Ala100Val)
n.357C>T
2g.206766993C>ACA431114870FASTKD2c.300C>A (p.Ala100=)
n.358C>A
2g.206766993C>GCA431114868FASTKD2c.300C>G (p.Ala100=)
n.358C>G
2g.206766993C>TCA431114869FASTKD2c.300C>T (p.Ala100=)
n.358C>T
gnomAD v4
2g.206766994C>ACA350069621FASTKD2c.301C>A (p.Leu101Ile)
n.359C>A
2g.206766994C=CA1323320430FASTKD2c.301C= (p.Leu101=)
n.359C=
2g.206766994C>GCA63709853FASTKD2c.301C>G (p.Leu101Val)
n.359C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206766994C>TCA350069624FASTKD2c.301C>T (p.Leu101Phe)
n.359C>T
2g.206766995T>ACA350069628FASTKD2c.302T>A (p.Leu101His)
n.360T>A
2g.206766995T>CCA350069633FASTKD2c.302T>C (p.Leu101Pro)
n.360T>C
2g.206766995T>GCA350069631FASTKD2c.302T>G (p.Leu101Arg)
n.360T>G
2g.206766996T>ACA431114877FASTKD2c.303T>A (p.Leu101=)
n.361T>A
2g.206766996T>CCA431114878FASTKD2c.303T>C (p.Leu101=)
n.361T>C
2g.206766996T>GCA431114879FASTKD2c.303T>G (p.Leu101=)
n.361T>G
2g.206766997A>CCA431114880FASTKD2c.304A>C (p.Arg102=)
n.362A>C
2g.206766997A>GCA350069635FASTKD2c.304A>G (p.Arg102Gly)
n.362A>G
ClinVar gnomAD v4
2g.206766997A>TCA350069637FASTKD2c.304A>T (p.Arg102Ter)
n.362A>T
2g.206766998G>ACA350069639FASTKD2c.305G>A (p.Arg102Lys)
n.363G>A
dbSNP gnomAD v3 gnomAD v4
2g.206766998G>CCA350069641FASTKD2c.305G>C (p.Arg102Thr)
n.363G>C
dbSNP gnomAD v4
2g.206766998G=CA1323320431FASTKD2c.305G= (p.Arg102=)
n.363G=
2g.206766998G>TCA350069642FASTKD2c.305G>T (p.Arg102Ile)
n.363G>T
2g.206766999A>CCA350069645FASTKD2c.306A>C (p.Arg102Ser)
n.364A>C
2g.206766999A>GCA431114884FASTKD2c.306A>G (p.Arg102=)
n.364A>G
2g.206766999A>TCA350069647FASTKD2c.306A>T (p.Arg102Ser)
n.364A>T
2g.206767000A>CCA350069649FASTKD2c.307A>C (p.Ile103Leu)
n.365A>C
2g.206767000A>GCA350069656FASTKD2c.307A>G (p.Ile103Val)
n.365A>G
2g.206767000A>TCA350069657FASTKD2c.307A>T (p.Ile103Phe)
n.365A>T
2g.206767001T>ACA350069661FASTKD2c.308T>A (p.Ile103Asn)
n.366T>A
2g.206767001T>CCA2074856FASTKD2c.308T>C (p.Ile103Thr)
n.366T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767001T>GCA350069667FASTKD2c.308T>G (p.Ile103Ser)
n.366T>G
2g.206767001T=CA1323320432FASTKD2c.308T= (p.Ile103=)
n.366T=
2g.206767002T>ACA431114886FASTKD2c.309T>A (p.Ile103=)
n.367T>A
2g.206767002T>CCA431114888FASTKD2c.309T>C (p.Ile103=)
n.367T>C
2g.206767002T>GCA350069670FASTKD2c.309T>G (p.Ile103Met)
n.367T>G
2g.206767003G>ACA350069674FASTKD2c.310G>A (p.Glu104Lys)
n.368G>A
2g.206767003G>CCA350069677FASTKD2c.310G>C (p.Glu104Gln)
n.368G>C
2g.206767003G=CA1323320433FASTKD2c.310G= (p.Glu104=)
n.368G=
2g.206767003G>TCA350069679FASTKD2c.310G>T (p.Glu104Ter)
n.368G>T
dbSNP
2g.206767004A=CA1323320434FASTKD2c.311A= (p.Glu104=)
n.369A=
2g.206767004A>CCA350069682FASTKD2c.311A>C (p.Glu104Ala)
n.369A>C
2g.206767004A>GCA350069684FASTKD2c.311A>G (p.Glu104Gly)
n.369A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767004A>TCA350069686FASTKD2c.311A>T (p.Glu104Val)
n.369A>T
dbSNP
2g.206767005A>CCA350069691FASTKD2c.312A>C (p.Glu104Asp)
n.370A>C
2g.206767005A>GCA431114894FASTKD2c.312A>G (p.Glu104=)
n.370A>G
2g.206767005A>TCA350069695FASTKD2c.312A>T (p.Glu104Asp)
n.370A>T
2g.206767006A=CA1323320435FASTKD2c.313A= (p.Arg105=)
n.371A=
2g.206767006A>CCA431114895FASTKD2c.313A>C (p.Arg105=)
n.371A>C
2g.206767006A>GCA2074857FASTKD2c.313A>G (p.Arg105Gly)
n.371A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767006A>TCA350069696FASTKD2c.313A>T (p.Arg105Ter)
n.371A>T
2g.206767007G>ACA350069697FASTKD2c.314G>A (p.Arg105Lys)
n.372G>A
gnomAD v4
2g.206767007G>CCA2074858FASTKD2c.314G>C (p.Arg105Thr)
n.372G>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767007G=CA1323320436FASTKD2c.314G= (p.Arg105=)
n.372G=
2g.206767007G>TCA350069699FASTKD2c.314G>T (p.Arg105Ile)
n.372G>T
2g.206767008A>CCA350069708FASTKD2c.315A>C (p.Arg105Ser)
n.373A>C
2g.206767008A>GCA431114902FASTKD2c.315A>G (p.Arg105=)
n.373A>G
2g.206767008A>TCA350069704FASTKD2c.315A>T (p.Arg105Ser)
n.373A>T
2g.206767009C>ACA2074859FASTKD2c.316C>A (p.Leu106Ile)
n.374C>A
dbSNP ExAC gnomAD v2
2g.206767009C=CA1323320437FASTKD2c.316C= (p.Leu106=)
n.374C=
2g.206767009C>GCA350069712FASTKD2c.316C>G (p.Leu106Val)
n.374C>G
2g.206767009C>TCA431114907FASTKD2c.316C>T (p.Leu106=)
n.374C>T
2g.206767009_206767014delinsCTACTTCA1323320438FASTKD2c.316_321delinsCTACTT (p.Leu106=)
n.374_379delinsCTACTT
2g.206767010T>ACA350069716FASTKD2c.317T>A (p.Leu106Gln)
n.375T>A
2g.206767010T>CCA350069717FASTKD2c.317T>C (p.Leu106Pro)
n.375T>C
dbSNP gnomAD v2 gnomAD v4
2g.206767010T>GCA350069718FASTKD2c.317T>G (p.Leu106Arg)
n.375T>G
2g.206767010T=CA1323320439FASTKD2c.317T= (p.Leu106=)
n.375T=
2g.206767012_206767016delCA2074860FASTKD2c.319_323del (p.Leu107CysfsTer2)
n.377_381del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767011A>CCA431114911FASTKD2c.318A>C (p.Leu106=)
n.376A>C
2g.206767011A>GCA431114913FASTKD2c.318A>G (p.Leu106=)
n.376A>G
2g.206767011A>TCA431114914FASTKD2c.318A>T (p.Leu106=)
n.376A>T
2g.206767012C>ACA350069719FASTKD2c.319C>A (p.Leu107Ile)
n.377C>A
2g.206767012C=CA1323320440FASTKD2c.319C= (p.Leu107=)
n.377C=
2g.206767012C>GCA2074861FASTKD2c.319C>G (p.Leu107Val)
n.377C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767012C>TCA63709889FASTKD2c.319C>T (p.Leu107Phe)
n.377C>T
dbSNP
2g.206767013T>ACA350069725FASTKD2c.320T>A (p.Leu107His)
n.378T>A
2g.206767013T>CCA350069736FASTKD2c.320T>C (p.Leu107Pro)
n.378T>C
2g.206767013T>GCA350069726FASTKD2c.320T>G (p.Leu107Arg)
n.378T>G
2g.206767014T>ACA431114916FASTKD2c.321T>A (p.Leu107=)
n.379T>A
2g.206767014T>CCA431114917FASTKD2c.321T>C (p.Leu107=)
n.379T>C
2g.206767014T>GCA2074862FASTKD2c.321T>G (p.Leu107=)
n.379T>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767014T=CA1323320441FASTKD2c.321T= (p.Leu107=)
n.379T=
2g.206767015T>ACA350069742FASTKD2c.322T>A (p.Tyr108Asn)
n.380T>A
2g.206767015T>CCA2074863FASTKD2c.322T>C (p.Tyr108His)
n.380T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767015T>GCA2074864FASTKD2c.322T>G (p.Tyr108Asp)
n.380T>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767015T=CA1323320442FASTKD2c.322T= (p.Tyr108=)
n.380T=
2g.206767016A=CA1323320443FASTKD2c.323A= (p.Tyr108=)
n.381A=
2g.206767016A>CCA350069746FASTKD2c.323A>C (p.Tyr108Ser)
n.381A>C
2g.206767016A>GCA2074865FASTKD2c.323A>G (p.Tyr108Cys)
n.381A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767016A>TCA350069749FASTKD2c.323A>T (p.Tyr108Phe)
n.381A>T
2g.206767017T>ACA350069754FASTKD2c.324T>A (p.Tyr108Ter)
n.382T>A
2g.206767017T>CCA431114925FASTKD2c.324T>C (p.Tyr108=)
n.382T>C
dbSNP gnomAD v3 gnomAD v4
2g.206767017T>GCA350069755FASTKD2c.324T>G (p.Tyr108Ter)
n.382T>G
2g.206767017T=CA1323320444FASTKD2c.324T= (p.Tyr108=)
n.382T=
2g.206767018G>ACA350069761FASTKD2c.325G>A (p.Ala109Thr)
n.383G>A
2g.206767018G>CCA350069774FASTKD2c.325G>C (p.Ala109Pro)
n.383G>C
2g.206767018G>TCA350069778FASTKD2c.325G>T (p.Ala109Ser)
n.383G>T
2g.206767019C>ACA350069796FASTKD2c.326C>A (p.Ala109Asp)
n.384C>A
2g.206767019C=CA1323320445FASTKD2c.326C= (p.Ala109=)
n.384C=
2g.206767019C>GCA350069798FASTKD2c.326C>G (p.Ala109Gly)
n.384C>G
2g.206767019C>TCA2074866FASTKD2c.326C>T (p.Ala109Val)
n.384C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767020T>ACA431114939FASTKD2c.327T>A (p.Ala109=)
n.385T>A
2g.206767020T>CCA431114940FASTKD2c.327T>C (p.Ala109=)
n.385T>C
dbSNP gnomAD v2 gnomAD v4
2g.206767020T>GCA431114943FASTKD2c.327T>G (p.Ala109=)
n.385T>G
2g.206767020T=CA1323320446FASTKD2c.327T= (p.Ala109=)
n.385T=
2g.206767020_206767021delinsTACA1323320447FASTKD2c.327_328delinsTA (p.Ala109=)
n.385_386delinsTA
2g.206767021A=CA1323320448FASTKD2c.328A= (p.Lys110=)
n.386A=
2g.206767021A>CCA350069819FASTKD2c.328A>C (p.Lys110Gln)
n.386A>C
2g.206767021A>GCA2074867FASTKD2c.328A>G (p.Lys110Glu)
n.386A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767021A>TCA350069838FASTKD2c.328A>T (p.Lys110Ter)
n.386A>T
gnomAD v4
2g.206767024delCA763820600FASTKD2c.331del (p.Arg111AspfsTer20)
c.331del (p.Arg111AspfsTer?)
n.389del
dbSNP
2g.206767022A>CCA350069841FASTKD2c.329A>C (p.Lys110Thr)
n.387A>C
gnomAD v4
2g.206767022A>GCA350069840FASTKD2c.329A>G (p.Lys110Arg)
n.387A>G
2g.206767022A>TCA350069839FASTKD2c.329A>T (p.Lys110Ile)
n.387A>T
2g.206767023A>CCA350069849FASTKD2c.330A>C (p.Lys110Asn)
n.388A>C
2g.206767023A>GCA431114950FASTKD2c.330A>G (p.Lys110=)
n.388A>G
2g.206767023A>TCA350069845FASTKD2c.330A>T (p.Lys110Asn)
n.388A>T
2g.206767024A>CCA431114951FASTKD2c.331A>C (p.Arg111=)
n.389A>C
2g.206767024A>GCA350069852FASTKD2c.331A>G (p.Arg111Gly)
n.389A>G
2g.206767024A>TCA350069857FASTKD2c.331A>T (p.Arg111Ter)
n.389A>T
2g.206767025G>ACA350069863FASTKD2c.332G>A (p.Arg111Lys)
n.390G>A
2g.206767025G>CCA350069865FASTKD2c.332G>C (p.Arg111Thr)
n.390G>C
2g.206767025G>TCA350069867FASTKD2c.332G>T (p.Arg111Ile)
n.390G>T
2g.206767026A=CA1323320449FASTKD2c.333A= (p.Arg111=)
n.391A=
2g.206767026A>CCA350069870FASTKD2c.333A>C (p.Arg111Ser)
n.391A>C
2g.206767026A>GCA431114957FASTKD2c.333A>G (p.Arg111=)
n.391A>G
dbSNP gnomAD v2 gnomAD v4
2g.206767026A>TCA350069877FASTKD2c.333A>T (p.Arg111Ser)
n.391A>T
2g.206767027C>ACA350069882FASTKD2c.334C>A (p.Leu112Met)
n.392C>A
2g.206767027C>GCA350069884FASTKD2c.334C>G (p.Leu112Val)
n.392C>G
gnomAD v4
2g.206767027C>TCA431114960FASTKD2c.334C>T (p.Leu112=)
n.392C>T
gnomAD v4
2g.206767028T>ACA350069886FASTKD2c.335T>A (p.Leu112Gln)
n.393T>A
2g.206767028T>CCA350069887FASTKD2c.335T>C (p.Leu112Pro)
n.393T>C
2g.206767028T>GCA350069888FASTKD2c.335T>G (p.Leu112Arg)
n.393T>G
2g.206767029G>ACA2074868FASTKD2c.336G>A (p.Leu112=)
n.394G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767029G>CCA431114961FASTKD2c.336G>C (p.Leu112=)
n.394G>C
2g.206767029G=CA1323320450FASTKD2c.336G= (p.Leu112=)
n.394G=
2g.206767029G>TCA431114963FASTKD2c.336G>T (p.Leu112=)
n.394G>T
gnomAD v4
2g.206767029_206767030delinsGTCA1323320451FASTKD2c.336_337delinsGT (p.Leu112=)
n.394_395delinsGT
2g.206767030T>ACA350069894FASTKD2c.337T>A (p.Phe113Ile)
n.395T>A
2g.206767030T>CCA350069892FASTKD2c.337T>C (p.Phe113Leu)
n.395T>C
2g.206767030T>GCA2074869FASTKD2c.337T>G (p.Phe113Val)
n.395T>G
dbSNP ExAC gnomAD v3 gnomAD v4
2g.206767030T=CA1323320452FASTKD2c.337T= (p.Phe113=)
n.395T=
2g.206767035dupCA2754013356FASTKD2c.342dup (p.Asp115Ter)
n.400dup
2g.206767035delCA539388777FASTKD2c.342del (p.Phe114LeufsTer17)
c.342del (p.Phe114LeufsTer?)
n.400del
dbSNP gnomAD v2 gnomAD v4
2g.206767031T>ACA350069895FASTKD2c.338T>A (p.Phe113Tyr)
n.396T>A
2g.206767031T>CCA350069897FASTKD2c.338T>C (p.Phe113Ser)
n.396T>C
2g.206767031T>GCA350069898FASTKD2c.338T>G (p.Phe113Cys)
n.396T>G
2g.206767032T>ACA350069904FASTKD2c.339T>A (p.Phe113Leu)
n.397T>A
2g.206767032T>CCA431114970FASTKD2c.339T>C (p.Phe113=)
n.397T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.206767032T>GCA350069908FASTKD2c.339T>G (p.Phe113Leu)
n.397T>G
2g.206767032T=CA1323320453FASTKD2c.339T= (p.Phe113=)
n.397T=
2g.206767033T>ACA350069915FASTKD2c.340T>A (p.Phe114Ile)
n.398T>A
2g.206767033T>CCA350069919FASTKD2c.340T>C (p.Phe114Leu)
n.398T>C
2g.206767033T>GCA350069926FASTKD2c.340T>G (p.Phe114Val)
n.398T>G
2g.206767034T>ACA350069929FASTKD2c.341T>A (p.Phe114Tyr)
n.399T>A
2g.206767034T>CCA350069933FASTKD2c.341T>C (p.Phe114Ser)
n.399T>C
2g.206767034T>GCA350069945FASTKD2c.341T>G (p.Phe114Cys)
n.399T>G
2g.206767035T>ACA350069951FASTKD2c.342T>A (p.Phe114Leu)
n.400T>A
2g.206767035T>CCA431114974FASTKD2c.342T>C (p.Phe114=)
n.400T>C
2g.206767035T>GCA350069954FASTKD2c.342T>G (p.Phe114Leu)
n.400T>G
2g.206767036G>ACA350069960FASTKD2c.343G>A (p.Asp115Asn)
n.401G>A
gnomAD v4
2g.206767036G>CCA350069964FASTKD2c.343G>C (p.Asp115His)
n.401G>C
gnomAD v4
2g.206767036G>TCA350069957FASTKD2c.343G>T (p.Asp115Tyr)
n.401G>T
gnomAD v4
2g.206767037A>CCA350069972FASTKD2c.344A>C (p.Asp115Ala)
n.402A>C
2g.206767037A>GCA350069977FASTKD2c.344A>G (p.Asp115Gly)
n.402A>G
gnomAD v4
2g.206767037A>TCA350069980FASTKD2c.344A>T (p.Asp115Val)
n.402A>T
2g.206767038C>ACA350069983FASTKD2c.345C>A (p.Asp115Glu)
n.403C>A
2g.206767038C>GCA350069988FASTKD2c.345C>G (p.Asp115Glu)
n.403C>G
2g.206767038C>TCA431114981FASTKD2c.345C>T (p.Asp115=)
n.403C>T
2g.206767039T>ACA350070005FASTKD2c.346T>A (p.Ser116Thr)
n.404T>A
2g.206767039T>CCA350070000FASTKD2c.346T>C (p.Ser116Pro)
n.404T>C
gnomAD v4
2g.206767039T>GCA350069993FASTKD2c.346T>G (p.Ser116Ala)
n.404T>G
2g.206767040C>ACA350070009FASTKD2c.347C>A (p.Ser116Ter)
n.405C>A
2g.206767040C>GCA350070012FASTKD2c.347C>G (p.Ser116Ter)
n.405C>G
gnomAD v4
2g.206767040C>TCA350070013FASTKD2c.347C>T (p.Ser116Leu)
n.405C>T
gnomAD v4
2g.206767041A=CA1323320454FASTKD2c.348A= (p.Ser116=)
n.406A=
2g.206767041A>CCA431114982FASTKD2c.348A>C (p.Ser116=)
n.406A>C
2g.206767041A>GCA63709927FASTKD2c.348A>G (p.Ser116=)
n.406A>G
dbSNP gnomAD v4
2g.206767041A>TCA431114983FASTKD2c.348A>T (p.Ser116=)
n.406A>T
2g.206767042A=CA1323320455FASTKD2c.349A= (p.Lys117=)
n.407A=
2g.206767042A>CCA350070014FASTKD2c.349A>C (p.Lys117Gln)
n.407A>C
2g.206767042A>GCA2074870FASTKD2c.349A>G (p.Lys117Glu)
n.407A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767042A>TCA350070016FASTKD2c.349A>T (p.Lys117Ter)
n.407A>T
2g.206767043A>CCA350070027FASTKD2c.350A>C (p.Lys117Thr)
n.408A>C
2g.206767043A>GCA350070019FASTKD2c.350A>G (p.Lys117Arg)
n.408A>G
gnomAD v4
2g.206767043A>TCA350070022FASTKD2c.350A>T (p.Lys117Met)
n.408A>T
gnomAD v4
2g.206767044G>ACA431114987FASTKD2c.351G>A (p.Lys117=)
n.409G>A
2g.206767044G>CCA350070035FASTKD2c.351G>C (p.Lys117Asn)
n.409G>C
2g.206767044G>TCA350070039FASTKD2c.351G>T (p.Lys117Asn)
n.409G>T
2g.206767045C>ACA350070045FASTKD2c.352C>A (p.Gln118Lys)
n.410C>A
2g.206767045C>GCA350070047FASTKD2c.352C>G (p.Gln118Glu)
n.410C>G
2g.206767045C>TCA350070057FASTKD2c.352C>T (p.Gln118Ter)
n.410C>T
gnomAD v4
2g.206767046A>CCA350070066FASTKD2c.353A>C (p.Gln118Pro)
n.411A>C
2g.206767046A>GCA350070067FASTKD2c.353A>G (p.Gln118Arg)
n.411A>G
2g.206767046A>TCA350070071FASTKD2c.353A>T (p.Gln118Leu)
n.411A>T
2g.206767047G>ACA431114991FASTKD2c.354G>A (p.Gln118=)
n.412G>A
2g.206767047G>CCA350070077FASTKD2c.354G>C (p.Gln118His)
n.412G>C
gnomAD v4
2g.206767047G>TCA350070087FASTKD2c.354G>T (p.Gln118His)
n.412G>T
gnomAD v4
2g.206767048T>ACA350070089FASTKD2c.355T>A (p.Ser119Thr)
n.413T>A
2g.206767048T>CCA350070090FASTKD2c.355T>C (p.Ser119Pro)
n.413T>C
gnomAD v4
2g.206767048T>GCA350070092FASTKD2c.355T>G (p.Ser119Ala)
n.413T>G
2g.206767051_206767052dupCA2662829147FASTKD2c.358_359dup (p.Val121LeufsTer11)
c.358_359dup (p.Val121LeufsTer?)
n.416_417dup
gnomAD v4
2g.206767049C>ACA350070095FASTKD2c.356C>A (p.Ser119Tyr)
n.414C>A
2g.206767049C=CA1323320456FASTKD2c.356C= (p.Ser119=)
n.414C=
2g.206767049C>GCA350070100FASTKD2c.356C>G (p.Ser119Cys)
n.414C>G
COSMIC
2g.206767049C>TCA2074871FASTKD2c.356C>T (p.Ser119Phe)
n.414C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767050T>ACA431114997FASTKD2c.357T>A (p.Ser119=)
n.415T>A
2g.206767050T>CCA431115001FASTKD2c.357T>C (p.Ser119=)
n.415T>C
2g.206767050T>GCA431115003FASTKD2c.357T>G (p.Ser119=)
n.415T>G
2g.206767051C>ACA350070101FASTKD2c.358C>A (p.Leu120Ile)
n.416C>A
2g.206767051C>GCA350070102FASTKD2c.358C>G (p.Leu120Val)
n.416C>G
2g.206767051C>TCA350070105FASTKD2c.358C>T (p.Leu120Phe)
n.416C>T
gnomAD v4 COSMIC
2g.206767052T>ACA350070106FASTKD2c.359T>A (p.Leu120His)
n.417T>A
2g.206767052T>CCA350070109FASTKD2c.359T>C (p.Leu120Pro)
n.417T>C
2g.206767052T>GCA350070114FASTKD2c.359T>G (p.Leu120Arg)
n.417T>G
2g.206767053T>ACA431115005FASTKD2c.360T>A (p.Leu120=)
n.418T>A
2g.206767053T>CCA431115006FASTKD2c.360T>C (p.Leu120=)
n.418T>C
2g.206767053T>GCA431115008FASTKD2c.360T>G (p.Leu120=)
n.418T>G
2g.206767054G>ACA350070116FASTKD2c.361G>A (p.Val121Ile)
n.419G>A
2g.206767054G>CCA350070120FASTKD2c.361G>C (p.Val121Leu)
n.419G>C
2g.206767054G>TCA350070122FASTKD2c.361G>T (p.Val121Phe)
n.419G>T
gnomAD v4
2g.206767055T>ACA350070129FASTKD2c.362T>A (p.Val121Asp)
n.420T>A
2g.206767055T>CCA350070136FASTKD2c.362T>C (p.Val121Ala)
n.420T>C
2g.206767055T>GCA350070138FASTKD2c.362T>G (p.Val121Gly)
n.420T>G
2g.206767056C>ACA431115015FASTKD2c.363C>A (p.Val121=)
n.421C>A
2g.206767056C>GCA431115018FASTKD2c.363C>G (p.Val121=)
n.421C>G
2g.206767056C>TCA431115016FASTKD2c.363C>T (p.Val121=)
n.421C>T
gnomAD v4
2g.206767057C>ACA350070152FASTKD2c.364C>A (p.Pro122Thr)
n.422C>A
2g.206767057C>GCA350070148FASTKD2c.364C>G (p.Pro122Ala)
n.422C>G
gnomAD v4
2g.206767057C>TCA350070142FASTKD2c.364C>T (p.Pro122Ser)
n.422C>T
2g.206767058C>ACA350070156FASTKD2c.365C>A (p.Pro122His)
n.423C>A
2g.206767058C=CA1323320457FASTKD2c.365C= (p.Pro122=)
n.423C=
2g.206767058C>GCA350070157FASTKD2c.365C>G (p.Pro122Arg)
n.423C>G
2g.206767058C>TCA350070158FASTKD2c.365C>T (p.Pro122Leu)
n.423C>T
dbSNP gnomAD v4
2g.206767059delCA2662829148FASTKD2c.366del (p.Val123LeufsTer8)
c.366del (p.Val123LeufsTer?)
n.424del
gnomAD v4
2g.206767059T>ACA431115026FASTKD2c.366T>A (p.Pro122=)
n.424T>A
2g.206767059T>CCA431115027FASTKD2c.366T>C (p.Pro122=)
n.424T>C
2g.206767059T>GCA431115028FASTKD2c.366T>G (p.Pro122=)
n.424T>G
2g.206767060G>ACA350070159FASTKD2c.367G>A (p.Val123Ile)
n.425G>A
gnomAD v4
2g.206767060G>CCA350070160FASTKD2c.367G>C (p.Val123Leu)
n.425G>C
2g.206767060G=CA1323320458FASTKD2c.367G= (p.Val123=)
n.425G=
2g.206767060G>TCA2074872FASTKD2c.367G>T (p.Val123Phe)
n.425G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767061T>ACA350070167FASTKD2c.368T>A (p.Val123Asp)
n.426T>A
2g.206767061T>CCA350070171FASTKD2c.368T>C (p.Val123Ala)
n.426T>C
gnomAD v4
2g.206767061T>GCA350070173FASTKD2c.368T>G (p.Val123Gly)
n.426T>G
2g.206767062T>ACA431115033FASTKD2c.369T>A (p.Val123=)
n.427T>A
2g.206767062T>CCA431115037FASTKD2c.369T>C (p.Val123=)
n.427T>C
2g.206767062T>GCA431115038FASTKD2c.369T>G (p.Val123=)
n.427T>G
2g.206767063G>ACA350070176FASTKD2c.370G>A (p.Asp124Asn)
n.428G>A
2g.206767063G>CCA350070182FASTKD2c.370G>C (p.Asp124His)
n.428G>C
gnomAD v4
2g.206767063G>TCA350070190FASTKD2c.370G>T (p.Asp124Tyr)
n.428G>T
2g.206767064A>CCA350070195FASTKD2c.371A>C (p.Asp124Ala)
n.429A>C
2g.206767064A>GCA350070204FASTKD2c.371A>G (p.Asp124Gly)
n.429A>G
2g.206767064A>TCA350070198FASTKD2c.371A>T (p.Asp124Val)
n.429A>T
2g.206767065T>ACA350070213FASTKD2c.372T>A (p.Asp124Glu)
n.430T>A
2g.206767065T>CCA431115044FASTKD2c.372T>C (p.Asp124=)
n.430T>C
2g.206767065T>GCA350070214FASTKD2c.372T>G (p.Asp124Glu)
n.430T>G
2g.206767066A>CCA350070217FASTKD2c.373A>C (p.Lys125Gln)
n.431A>C
2g.206767066A>GCA350070235FASTKD2c.373A>G (p.Lys125Glu)
n.431A>G
2g.206767066A>TCA350070232FASTKD2c.373A>T (p.Lys125Ter)
n.431A>T
2g.206767067A>CCA350070240FASTKD2c.374A>C (p.Lys125Thr)
n.432A>C
2g.206767067A>GCA350070242FASTKD2c.374A>G (p.Lys125Arg)
n.432A>G
2g.206767067A>TCA350070244FASTKD2c.374A>T (p.Lys125Ile)
n.432A>T
2g.206767068A>CCA350070247FASTKD2c.375A>C (p.Lys125Asn)
n.433A>C
2g.206767068A>GCA431115051FASTKD2c.375A>G (p.Lys125=)
n.433A>G
2g.206767068A>TCA350070260FASTKD2c.375A>T (p.Lys125Asn)
n.433A>T
2g.206767069T>ACA350070269FASTKD2c.376T>A (p.Ser126Thr)
n.434T>A
2g.206767069T>CCA350070273FASTKD2c.376T>C (p.Ser126Pro)
n.434T>C
2g.206767069T>GCA350070275FASTKD2c.376T>G (p.Ser126Ala)
n.434T>G
2g.206767069_206767072delinsTCTGCA1323320459FASTKD2c.376_379delinsTCTG (p.Ser126=)
n.434_437delinsTCTG
2g.206767070C>ACA350070284FASTKD2c.377C>A (p.Ser126Tyr)
n.435C>A
2g.206767070C>GCA350070288FASTKD2c.377C>G (p.Ser126Cys)
n.435C>G
2g.206767070C>TCA350070290FASTKD2c.377C>T (p.Ser126Phe)
n.435C>T
2g.206767070_206767072delCA2074873FASTKD2c.377_379del (p.Ser126_Asp127delinsTyr)
n.435_437del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.206767071T>ACA431115057FASTKD2c.378T>A (p.Ser126=)
n.436T>A
2g.206767071T>CCA431115059FASTKD2c.378T>C (p.Ser126=)
n.436T>C
2g.206767071T>GCA431115060FASTKD2c.378T>G (p.Ser126=)
n.436T>G
2g.206767077_206767079delCA2577223887FASTKD2c.384_386del (p.Asp128del)
n.442_444del
gnomAD v4
2g.206767072G>ACA350070304FASTKD2c.379G>A (p.Asp127Asn)
n.437G>A
2g.206767072G>CCA350070300FASTKD2c.379G>C (p.Asp127His)
n.437G>C
2g.206767072G>TCA350070302FASTKD2c.379G>T (p.Asp127Tyr)
n.437G>T
gnomAD v4
2g.206767073A>CCA350070309FASTKD2c.380A>C (p.Asp127Ala)
n.438A>C
2g.206767073A>GCA350070311FASTKD2c.380A>G (p.Asp127Gly)
n.438A>G
2g.206767073A>TCA350070313FASTKD2c.380A>T (p.Asp127Val)
n.438A>T
2g.206767074T>ACA350070316FASTKD2c.381T>A (p.Asp127Glu)
n.439T>A
2g.206767074T>CCA431115070FASTKD2c.381T>C (p.Asp127=)
n.439T>C
gnomAD v4
2g.206767074T>GCA350070321FASTKD2c.381T>G (p.Asp127Glu)
n.439T>G
gnomAD v4
2g.206767075G>ACA350070324FASTKD2c.382G>A (p.Asp128Asn)
n.440G>A
2g.206767075G>CCA350070327FASTKD2c.382G>C (p.Asp128His)
n.440G>C
2g.206767075G>TCA350070330FASTKD2c.382G>T (p.Asp128Tyr)
n.440G>T
2g.206767076A=CA1323320460FASTKD2c.383A= (p.Asp128=)
n.441A=
2g.206767076A>CCA350070333FASTKD2c.383A>C (p.Asp128Ala)
n.441A>C
gnomAD v4
2g.206767076A>GCA350070339FASTKD2c.383A>G (p.Asp128Gly)
n.441A>G
dbSNP
2g.206767076A>TCA350070345FASTKD2c.383A>T (p.Asp128Val)
n.441A>T
2g.206767077T>ACA350070348FASTKD2c.384T>A (p.Asp128Glu)
n.442T>A
2g.206767077T>CCA431115076FASTKD2c.384T>C (p.Asp128=)
n.442T>C
2g.206767077T>GCA350070352FASTKD2c.384T>G (p.Asp128Glu)
n.442T>G
2g.206767078G>ACA2074874FASTKD2c.385G>A (p.Glu129Lys)
n.443G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.206767078G>CCA350070357FASTKD2c.385G>C (p.Glu129Gln)
n.443G>C
2g.206767078G=CA1323320461FASTKD2c.385G= (p.Glu129=)
n.443G=
2g.206767078G>TCA350070360FASTKD2c.385G>T (p.Glu129Ter)
n.443G>T
gnomAD v4

Number of alleles fetched