Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132873172G>ACA372247495TGc.589G>A (p.Val197Ile)
c.*440G>A (n.*440G>A)
c.328G>A (p.Val110Ile)
8g.132873172G>CCA372247499TGc.589G>C (p.Val197Leu)
c.*440G>C (n.*440G>C)
c.328G>C (p.Val110Leu)
8g.132873172G>TCA372247497TGc.589G>T (p.Val197Phe)
c.*440G>T (n.*440G>T)
c.328G>T (p.Val110Phe)
 gnomAD v4
8g.132873173T>ACA372247500TGc.590T>A (p.Val197Asp)
c.*441T>A (n.*441T>A)
c.329T>A (p.Val110Asp)
8g.132873173T>CCA372247501TGc.590T>C (p.Val197Ala)
c.*441T>C (n.*441T>C)
c.329T>C (p.Val110Ala)
8g.132873173T>GCA372247502TGc.590T>G (p.Val197Gly)
c.*441T>G (n.*441T>G)
c.329T>G (p.Val110Gly)
8g.132873174_132873194dupCA2688648019TGc.591_611dup (p.Ile204_Phe205insAsnThrThrAspMetMetIle)
c.*442_*462dup (n.*442_*462dup)
c.330_350dup (p.Ile117_Phe118insAsnThrThrAspMetMetIle)
 gnomAD v4
8g.132873174C>ACA463013930TGc.591C>A (p.Val197=)
c.*442C>A (n.*442C>A)
c.330C>A (p.Val110=)
8g.132873174C>GCA463013931TGc.591C>G (p.Val197=)
c.*442C>G (n.*442C>G)
c.330C>G (p.Val110=)
8g.132873174C>TCA463013932TGc.591C>T (p.Val197=)
c.*442C>T (n.*442C>T)
c.330C>T (p.Val110=)
 ClinVar gnomAD v4
8g.132873175A>CCA372247503TGc.592A>C (p.Asn198His)
c.*443A>C (n.*443A>C)
c.331A>C (p.Asn111His)
8g.132873175A>GCA372247505TGc.592A>G (p.Asn198Asp)
c.*443A>G (n.*443A>G)
c.331A>G (p.Asn111Asp)
8g.132873175A>TCA372247507TGc.592A>T (p.Asn198Tyr)
c.*443A>T (n.*443A>T)
c.331A>T (p.Asn111Tyr)
8g.132873176A=CA1820984257TGc.593A= (p.Asn198=)
c.*444A= (n.*444A=)
c.332A= (p.Asn111=)
8g.132873176A>CCA372247509TGc.593A>C (p.Asn198Thr)
c.*444A>C (n.*444A>C)
c.332A>C (p.Asn111Thr)
8g.132873176A>GCA4882959TGc.593A>G (p.Asn198Ser)
c.*444A>G (n.*444A>G)
c.332A>G (p.Asn111Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132873176A>TCA372247511TGc.593A>T (p.Asn198Ile)
c.*444A>T (n.*444A>T)
c.332A>T (p.Asn111Ile)
8g.132873177C>ACA372247513TGc.594C>A (p.Asn198Lys)
c.*445C>A (n.*445C>A)
c.333C>A (p.Asn111Lys)
8g.132873177C>GCA372247514TGc.594C>G (p.Asn198Lys)
c.*445C>G (n.*445C>G)
c.333C>G (p.Asn111Lys)
8g.132873177C>TCA463013933TGc.594C>T (p.Asn198=)
c.*445C>T (n.*445C>T)
c.333C>T (p.Asn111=)
 gnomAD v4
8g.132873178A>CCA372247518TGc.595A>C (p.Thr199Pro)
c.*446A>C (n.*446A>C)
c.334A>C (p.Thr112Pro)
8g.132873178A>GCA372247516TGc.595A>G (p.Thr199Ala)
c.*446A>G (n.*446A>G)
c.334A>G (p.Thr112Ala)
8g.132873178A>TCA372247515TGc.595A>T (p.Thr199Ser)
c.*446A>T (n.*446A>T)
c.334A>T (p.Thr112Ser)
8g.132873179C>ACA372247526TGc.596C>A (p.Thr199Asn)
c.*447C>A (n.*447C>A)
c.335C>A (p.Thr112Asn)
8g.132873179C=CA1820984258TGc.596C= (p.Thr199=)
c.*447C= (n.*447C=)
c.335C= (p.Thr112=)
8g.132873179C>GCA372247521TGc.596C>G (p.Thr199Ser)
c.*447C>G (n.*447C>G)
c.335C>G (p.Thr112Ser)
8g.132873179C>TCA4882960TGc.596C>T (p.Thr199Ile)
c.*447C>T (n.*447C>T)
c.335C>T (p.Thr112Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
8g.132873180C>ACA463013934TGc.597C>A (p.Thr199=)
c.*448C>A (n.*448C>A)
c.336C>A (p.Thr112=)
8g.132873180C>GCA463013935TGc.597C>G (p.Thr199=)
c.*448C>G (n.*448C>G)
c.336C>G (p.Thr112=)
8g.132873180C>TCA463013936TGc.597C>T (p.Thr199=)
c.*448C>T (n.*448C>T)
c.336C>T (p.Thr112=)
 gnomAD v4 COSMIC
8g.132873181A>CCA372247529TGc.598A>C (p.Thr200Pro)
c.*449A>C (n.*449A>C)
c.337A>C (p.Thr113Pro)
8g.132873181A>GCA372247531TGc.598A>G (p.Thr200Ala)
c.*449A>G (n.*449A>G)
c.337A>G (p.Thr113Ala)
8g.132873181A>TCA372247536TGc.598A>T (p.Thr200Ser)
c.*449A>T (n.*449A>T)
c.337A>T (p.Thr113Ser)
8g.132873182C>ACA372247539TGc.599C>A (p.Thr200Lys)
c.*450C>A (n.*450C>A)
c.338C>A (p.Thr113Lys)
8g.132873182C>GCA372247541TGc.599C>G (p.Thr200Arg)
c.*450C>G (n.*450C>G)
c.338C>G (p.Thr113Arg)
8g.132873182C>TCA372247544TGc.599C>T (p.Thr200Ile)
c.*450C>T (n.*450C>T)
c.338C>T (p.Thr113Ile)
8g.132873183A>CCA463013937TGc.600A>C (p.Thr200=)
c.*451A>C (n.*451A>C)
c.339A>C (p.Thr113=)
8g.132873183A>GCA463013938TGc.600A>G (p.Thr200=)
c.*451A>G (n.*451A>G)
c.339A>G (p.Thr113=)
8g.132873183A>TCA463013939TGc.600A>T (p.Thr200=)
c.*451A>T (n.*451A>T)
c.339A>T (p.Thr113=)
8g.132873184G>ACA372247546TGc.601G>A (p.Asp201Asn)
c.*452G>A (n.*452G>A)
c.340G>A (p.Asp114Asn)
8g.132873184G>CCA186328642TGc.601G>C (p.Asp201His)
c.*452G>C (n.*452G>C)
c.340G>C (p.Asp114His)
 dbSNP
8g.132873184G=CA1820984259TGc.601G= (p.Asp201=)
c.*452G= (n.*452G=)
c.340G= (p.Asp114=)
8g.132873184G>TCA372247549TGc.601G>T (p.Asp201Tyr)
c.*452G>T (n.*452G>T)
c.340G>T (p.Asp114Tyr)
8g.132873185A>CCA372247553TGc.602A>C (p.Asp201Ala)
c.*453A>C (n.*453A>C)
c.341A>C (p.Asp114Ala)
8g.132873185A>GCA372247555TGc.602A>G (p.Asp201Gly)
c.*453A>G (n.*453A>G)
c.341A>G (p.Asp114Gly)
8g.132873185A>TCA372247557TGc.602A>T (p.Asp201Val)
c.*453A>T (n.*453A>T)
c.341A>T (p.Asp114Val)
8g.132873186C>ACA372247560TGc.603C>A (p.Asp201Glu)
c.*454C>A (n.*454C>A)
c.342C>A (p.Asp114Glu)
8g.132873186C>GCA372247562TGc.603C>G (p.Asp201Glu)
c.*454C>G (n.*454C>G)
c.342C>G (p.Asp114Glu)
8g.132873186C>TCA463013940TGc.603C>T (p.Asp201=)
c.*454C>T (n.*454C>T)
c.342C>T (p.Asp114=)
8g.132873186_132873189delinsCATGCA1820984260TGc.603_606delinsCATG (p.Asp201=)
c.*454_*457delinsCATG (n.*454_*457delinsCATG)
c.342_345delinsCATG (p.Asp114=)
8g.132873187A>CCA372247566TGc.604A>C (p.Met202Leu)
c.*455A>C (n.*455A>C)
c.343A>C (p.Met115Leu)
8g.132873187A>GCA372247568TGc.604A>G (p.Met202Val)
c.*455A>G (n.*455A>G)
c.343A>G (p.Met115Val)
8g.132873187A>TCA372247570TGc.604A>T (p.Met202Leu)
c.*455A>T (n.*455A>T)
c.343A>T (p.Met115Leu)
8g.132873192_132873194delCA584914002TGc.609_611del (p.Met203del)
c.*460_*462del (n.*460_*462del)
c.348_350del (p.Met116del)
 dbSNP gnomAD v2 gnomAD v4
8g.132873188T>ACA372247572TGc.605T>A (p.Met202Lys)
c.*456T>A (n.*456T>A)
c.344T>A (p.Met115Lys)
8g.132873188T>CCA372247574TGc.605T>C (p.Met202Thr)
c.*456T>C (n.*456T>C)
c.344T>C (p.Met115Thr)
 gnomAD v4
8g.132873188T>GCA372247577TGc.605T>G (p.Met202Arg)
c.*456T>G (n.*456T>G)
c.344T>G (p.Met115Arg)
8g.132873189G>ACA372247580TGc.606G>A (p.Met202Ile)
c.*457G>A (n.*457G>A)
c.345G>A (p.Met115Ile)
 gnomAD v4
8g.132873189G>CCA372247581TGc.606G>C (p.Met202Ile)
c.*457G>C (n.*457G>C)
c.345G>C (p.Met115Ile)
8g.132873189G>TCA372247583TGc.606G>T (p.Met202Ile)
c.*457G>T (n.*457G>T)
c.345G>T (p.Met115Ile)
8g.132873190A>CCA372247585TGc.607A>C (p.Met203Leu)
c.*458A>C (n.*458A>C)
c.346A>C (p.Met116Leu)
8g.132873190A>GCA372247588TGc.607A>G (p.Met203Val)
c.*458A>G (n.*458A>G)
c.346A>G (p.Met116Val)
 gnomAD v4
8g.132873190A>TCA372247590TGc.607A>T (p.Met203Leu)
c.*458A>T (n.*458A>T)
c.346A>T (p.Met116Leu)
8g.132873191T>ACA4882961TGc.608T>A (p.Met203Lys)
c.*459T>A (n.*459T>A)
c.347T>A (p.Met116Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873191T>CCA372247596TGc.608T>C (p.Met203Thr)
c.*459T>C (n.*459T>C)
c.347T>C (p.Met116Thr)
 gnomAD v4
8g.132873191T>GCA372247593TGc.608T>G (p.Met203Arg)
c.*459T>G (n.*459T>G)
c.347T>G (p.Met116Arg)
8g.132873191T=CA1820984261TGc.608T= (p.Met203=)
c.*459T= (n.*459T=)
c.347T= (p.Met116=)
8g.132873192G>ACA372247599TGc.609G>A (p.Met203Ile)
c.*460G>A (n.*460G>A)
c.348G>A (p.Met116Ile)
 COSMIC
8g.132873192G>CCA372247601TGc.609G>C (p.Met203Ile)
c.*460G>C (n.*460G>C)
c.348G>C (p.Met116Ile)
 dbSNP gnomAD v3 gnomAD v4
8g.132873192G=CA1820984262TGc.609G= (p.Met203=)
c.*460G= (n.*460G=)
c.348G= (p.Met116=)
8g.132873192G>TCA372247603TGc.609G>T (p.Met203Ile)
c.*460G>T (n.*460G>T)
c.348G>T (p.Met116Ile)
8g.132873193A>CCA372247606TGc.610A>C (p.Ile204Leu)
c.*461A>C (n.*461A>C)
c.349A>C (p.Ile117Leu)
8g.132873193A>GCA372247607TGc.610A>G (p.Ile204Val)
c.*461A>G (n.*461A>G)
c.349A>G (p.Ile117Val)
8g.132873193A>TCA372247610TGc.610A>T (p.Ile204Phe)
c.*461A>T (n.*461A>T)
c.349A>T (p.Ile117Phe)
 COSMIC
8g.132873194T>ACA372247613TGc.611T>A (p.Ile204Asn)
c.*462T>A (n.*462T>A)
c.350T>A (p.Ile117Asn)
8g.132873194T>CCA372247616TGc.611T>C (p.Ile204Thr)
c.*462T>C (n.*462T>C)
c.350T>C (p.Ile117Thr)
8g.132873194T>GCA372247618TGc.611T>G (p.Ile204Ser)
c.*462T>G (n.*462T>G)
c.350T>G (p.Ile117Ser)
8g.132873195T>ACA463013941TGc.612T>A (p.Ile204=)
c.*463T>A (n.*463T>A)
c.351T>A (p.Ile117=)
 dbSNP gnomAD v2 gnomAD v4
8g.132873195T>CCA463013942TGc.612T>C (p.Ile204=)
c.*463T>C (n.*463T>C)
c.351T>C (p.Ile117=)
8g.132873195T>GCA372247619TGc.612T>G (p.Ile204Met)
c.*463T>G (n.*463T>G)
c.351T>G (p.Ile117Met)
8g.132873195T=CA1820984263TGc.612T= (p.Ile204=)
c.*463T= (n.*463T=)
c.351T= (p.Ile117=)
8g.132873196T>ACA372247621TGc.613T>A (p.Phe205Ile)
c.*464T>A (n.*464T>A)
c.352T>A (p.Phe118Ile)
8g.132873196T>CCA372247622TGc.613T>C (p.Phe205Leu)
c.*464T>C (n.*464T>C)
c.352T>C (p.Phe118Leu)
8g.132873196T>GCA372247625TGc.613T>G (p.Phe205Val)
c.*464T>G (n.*464T>G)
c.352T>G (p.Phe118Val)
8g.132873197T>ACA372247632TGc.614T>A (p.Phe205Tyr)
c.*465T>A (n.*465T>A)
c.353T>A (p.Phe118Tyr)
8g.132873197T>CCA372247630TGc.614T>C (p.Phe205Ser)
c.*465T>C (n.*465T>C)
c.353T>C (p.Phe118Ser)
 COSMIC
8g.132873197T>GCA372247627TGc.614T>G (p.Phe205Cys)
c.*465T>G (n.*465T>G)
c.353T>G (p.Phe118Cys)
 gnomAD v4
8g.132873198T>ACA372247634TGc.615T>A (p.Phe205Leu)
c.*466T>A (n.*466T>A)
c.354T>A (p.Phe118Leu)
8g.132873198T>CCA463013945TGc.615T>C (p.Phe205=)
c.*466T>C (n.*466T>C)
c.354T>C (p.Phe118=)
8g.132873198T>GCA372247636TGc.615T>G (p.Phe205Leu)
c.*466T>G (n.*466T>G)
c.354T>G (p.Phe118Leu)
8g.132873199G>ACA372247638TGc.616G>A (p.Asp206Asn)
c.*467G>A (n.*467G>A)
c.355G>A (p.Asp119Asn)
8g.132873199G>CCA372247640TGc.616G>C (p.Asp206His)
c.*467G>C (n.*467G>C)
c.355G>C (p.Asp119His)
8g.132873199G=CA1820984264TGc.616G= (p.Asp206=)
c.*467G= (n.*467G=)
c.355G= (p.Asp119=)
8g.132873199G>TCA186328644TGc.616G>T (p.Asp206Tyr)
c.*467G>T (n.*467G>T)
c.355G>T (p.Asp119Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.132873200A>CCA372247644TGc.617A>C (p.Asp206Ala)
c.*468A>C (n.*468A>C)
c.356A>C (p.Asp119Ala)
8g.132873200A>GCA372247646TGc.617A>G (p.Asp206Gly)
c.*468A>G (n.*468A>G)
c.356A>G (p.Asp119Gly)
 gnomAD v4
8g.132873200A>TCA372247647TGc.617A>T (p.Asp206Val)
c.*468A>T (n.*468A>T)
c.356A>T (p.Asp119Val)
8g.132873201T>ACA372247648TGc.618T>A (p.Asp206Glu)
c.*469T>A (n.*469T>A)
c.357T>A (p.Asp119Glu)
8g.132873201T>CCA186328648TGc.618T>C (p.Asp206=)
c.*469T>C (n.*469T>C)
c.357T>C (p.Asp119=)
 dbSNP
8g.132873201T>GCA372247649TGc.618T>G (p.Asp206Glu)
c.*469T>G (n.*469T>G)
c.357T>G (p.Asp119Glu)
8g.132873201T=CA1820984265TGc.618T= (p.Asp206=)
c.*469T= (n.*469T=)
c.357T= (p.Asp119=)
8g.132873202C>ACA372247652TGc.619C>A (p.Leu207Met)
c.*470C>A (n.*470C>A)
c.358C>A (p.Leu120Met)
 dbSNP
8g.132873202C=CA1820984266TGc.619C= (p.Leu207=)
c.*470C= (n.*470C=)
c.358C= (p.Leu120=)
8g.132873202C>GCA372247654TGc.619C>G (p.Leu207Val)
c.*470C>G (n.*470C>G)
c.358C>G (p.Leu120Val)
 gnomAD v4
8g.132873202C>TCA4882962TGc.619C>T (p.Leu207=)
c.*470C>T (n.*470C>T)
c.358C>T (p.Leu120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873203T>ACA372247661TGc.620T>A (p.Leu207Gln)
c.*471T>A (n.*471T>A)
c.359T>A (p.Leu120Gln)
8g.132873203T>CCA372247662TGc.620T>C (p.Leu207Pro)
c.*471T>C (n.*471T>C)
c.359T>C (p.Leu120Pro)
8g.132873203T>GCA372247658TGc.620T>G (p.Leu207Arg)
c.*471T>G (n.*471T>G)
c.359T>G (p.Leu120Arg)
8g.132873204G>ACA463013950TGc.621G>A (p.Leu207=)
c.*472G>A (n.*472G>A)
c.360G>A (p.Leu120=)
 gnomAD v4
8g.132873204G>CCA463013951TGc.621G>C (p.Leu207=)
c.*472G>C (n.*472G>C)
c.360G>C (p.Leu120=)
8g.132873204G>TCA463013952TGc.621G>T (p.Leu207=)
c.*472G>T (n.*472G>T)
c.360G>T (p.Leu120=)
8g.132873205G>ACA372247664TGc.622G>A (p.Val208Ile)
c.*473G>A (n.*473G>A)
c.361G>A (p.Val121Ile)
 gnomAD v4
8g.132873205G>CCA372247666TGc.622G>C (p.Val208Leu)
c.*473G>C (n.*473G>C)
c.361G>C (p.Val121Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.132873205G=CA1820984267TGc.622G= (p.Val208=)
c.*473G= (n.*473G=)
c.361G= (p.Val121=)
8g.132873205G>TCA372247667TGc.622G>T (p.Val208Phe)
c.*473G>T (n.*473G>T)
c.361G>T (p.Val121Phe)
 COSMIC
8g.132873206T>ACA372247669TGc.623T>A (p.Val208Asp)
c.*474T>A (n.*474T>A)
c.362T>A (p.Val121Asp)
8g.132873206T>CCA372247673TGc.623T>C (p.Val208Ala)
c.*474T>C (n.*474T>C)
c.362T>C (p.Val121Ala)
 gnomAD v4
8g.132873206T>GCA4882963TGc.623T>G (p.Val208Gly)
c.*474T>G (n.*474T>G)
c.362T>G (p.Val121Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873206T=CA1820984268TGc.623T= (p.Val208=)
c.*474T= (n.*474T=)
c.362T= (p.Val121=)
8g.132873207C>ACA463013958TGc.624C>A (p.Val208=)
c.*475C>A (n.*475C>A)
c.363C>A (p.Val121=)
8g.132873207C>GCA463013959TGc.624C>G (p.Val208=)
c.*475C>G (n.*475C>G)
c.363C>G (p.Val121=)
8g.132873207C>TCA463013960TGc.624C>T (p.Val208=)
c.*475C>T (n.*475C>T)
c.363C>T (p.Val121=)
8g.132873208C>ACA372247677TGc.625C>A (p.His209Asn)
c.*476C>A (n.*476C>A)
c.364C>A (p.His122Asn)
8g.132873208C>GCA372247679TGc.625C>G (p.His209Asp)
c.*476C>G (n.*476C>G)
c.364C>G (p.His122Asp)
8g.132873208C>TCA372247681TGc.625C>T (p.His209Tyr)
c.*476C>T (n.*476C>T)
c.364C>T (p.His122Tyr)
8g.132873209delCA2688648038TGc.626del (p.His209ProfsTer11)
c.*477del (n.*477del)
c.365del (p.His122ProfsTer11)
 gnomAD v4
8g.132873209A>CCA372247682TGc.626A>C (p.His209Pro)
c.*477A>C (n.*477A>C)
c.365A>C (p.His122Pro)
8g.132873209A>GCA372247685TGc.626A>G (p.His209Arg)
c.*477A>G (n.*477A>G)
c.365A>G (p.His122Arg)
8g.132873209A>TCA372247687TGc.626A>T (p.His209Leu)
c.*477A>T (n.*477A>T)
c.365A>T (p.His122Leu)
8g.132873210C>ACA372247692TGc.627C>A (p.His209Gln)
c.*478C>A (n.*478C>A)
c.366C>A (p.His122Gln)
8g.132873210C>GCA372247690TGc.627C>G (p.His209Gln)
c.*478C>G (n.*478C>G)
c.366C>G (p.His122Gln)
8g.132873210C>TCA463013966TGc.627C>T (p.His209=)
c.*478C>T (n.*478C>T)
c.366C>T (p.His122=)
8g.132873211A>CCA372247696TGc.628A>C (p.Ser210Arg)
c.*479A>C (n.*479A>C)
c.367A>C (p.Ser123Arg)
8g.132873211A>GCA372247697TGc.628A>G (p.Ser210Gly)
c.*479A>G (n.*479A>G)
c.367A>G (p.Ser123Gly)
 gnomAD v4
8g.132873211A>TCA372247700TGc.628A>T (p.Ser210Cys)
c.*479A>T (n.*479A>T)
c.367A>T (p.Ser123Cys)
8g.132873212_132873215delCA2688648039TGc.629_632del (p.Ser210ThrfsTer9)
c.*480_*483del (n.*480_*483del)
c.368_371del (p.Ser123ThrfsTer9)
 gnomAD v4
8g.132873212G>ACA372247702TGc.629G>A (p.Ser210Asn)
c.*480G>A (n.*480G>A)
c.368G>A (p.Ser123Asn)
8g.132873212G>CCA372247715TGc.629G>C (p.Ser210Thr)
c.*480G>C (n.*480G>C)
c.368G>C (p.Ser123Thr)
8g.132873212G>TCA372247716TGc.629G>T (p.Ser210Ile)
c.*480G>T (n.*480G>T)
c.368G>T (p.Ser123Ile)
8g.132873213C>ACA372247717TGc.630C>A (p.Ser210Arg)
c.*481C>A (n.*481C>A)
c.369C>A (p.Ser123Arg)
 dbSNP gnomAD v4
8g.132873213C=CA1820984269TGc.630C= (p.Ser210=)
c.*481C= (n.*481C=)
c.369C= (p.Ser123=)
8g.132873213C>GCA372247718TGc.630C>G (p.Ser210Arg)
c.*481C>G (n.*481C>G)
c.369C>G (p.Ser123Arg)
8g.132873213C>TCA463013970TGc.630C>T (p.Ser210=)
c.*481C>T (n.*481C>T)
c.369C>T (p.Ser123=)
 dbSNP gnomAD v2
8g.132873214T>ACA372247721TGc.631T>A (p.Tyr211Asn)
c.*482T>A (n.*482T>A)
c.370T>A (p.Tyr124Asn)
8g.132873214T>CCA372247722TGc.631T>C (p.Tyr211His)
c.*482T>C (n.*482T>C)
c.370T>C (p.Tyr124His)
8g.132873214T>GCA372247723TGc.631T>G (p.Tyr211Asp)
c.*482T>G (n.*482T>G)
c.370T>G (p.Tyr124Asp)
8g.132873215A>CCA372247731TGc.632A>C (p.Tyr211Ser)
c.*483A>C (n.*483A>C)
c.371A>C (p.Tyr124Ser)
8g.132873215A>GCA372247728TGc.632A>G (p.Tyr211Cys)
c.*483A>G (n.*483A>G)
c.371A>G (p.Tyr124Cys)
 gnomAD v4
8g.132873215A>TCA372247726TGc.632A>T (p.Tyr211Phe)
c.*483A>T (n.*483A>T)
c.371A>T (p.Tyr124Phe)
8g.132873216C>ACA372247734TGc.633C>A (p.Tyr211Ter)
c.*484C>A (n.*484C>A)
c.372C>A (p.Tyr124Ter)
8g.132873216C=CA1820984270TGc.633C= (p.Tyr211=)
c.*484C= (n.*484C=)
c.372C= (p.Tyr124=)
8g.132873216C>GCA372247735TGc.633C>G (p.Tyr211Ter)
c.*484C>G (n.*484C>G)
c.372C>G (p.Tyr124Ter)
 dbSNP
8g.132873216C>TCA463013973TGc.633C>T (p.Tyr211=)
c.*484C>T (n.*484C>T)
c.372C>T (p.Tyr124=)
 dbSNP
8g.132873217A>CCA372247738TGc.634A>C (p.Asn212His)
c.*485A>C (n.*485A>C)
c.373A>C (p.Asn125His)
8g.132873217A>GCA372247742TGc.634A>G (p.Asn212Asp)
c.*485A>G (n.*485A>G)
c.373A>G (p.Asn125Asp)
8g.132873217A>TCA372247740TGc.634A>T (p.Asn212Tyr)
c.*485A>T (n.*485A>T)
c.373A>T (p.Asn125Tyr)
8g.132873218A=CA1820984271TGc.635A= (p.Asn212=)
c.*486A= (n.*486A=)
c.374A= (p.Asn125=)
8g.132873218A>CCA372247745TGc.635A>C (p.Asn212Thr)
c.*486A>C (n.*486A>C)
c.374A>C (p.Asn125Thr)
8g.132873218A>GCA4882964TGc.635A>G (p.Asn212Ser)
c.*486A>G (n.*486A>G)
c.374A>G (p.Asn125Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873218A>TCA372247750TGc.635A>T (p.Asn212Ile)
c.*486A>T (n.*486A>T)
c.374A>T (p.Asn125Ile)
8g.132873219C>ACA372247752TGc.636C>A (p.Asn212Lys)
c.*487C>A (n.*487C>A)
c.375C>A (p.Asn125Lys)
8g.132873219C=CA1820984272TGc.636C= (p.Asn212=)
c.*487C= (n.*487C=)
c.375C= (p.Asn125=)
8g.132873219C>GCA372247755TGc.636C>G (p.Asn212Lys)
c.*487C>G (n.*487C>G)
c.375C>G (p.Asn125Lys)
8g.132873219C>TCA4882965TGc.636C>T (p.Asn212=)
c.*487C>T (n.*487C>T)
c.375C>T (p.Asn125=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873220A=CA1820984273TGc.637A= (p.Arg213=)
c.*488A= (n.*488A=)
c.376A= (p.Arg126=)
8g.132873220A>CCA463013977TGc.637A>C (p.Arg213=)
c.*488A>C (n.*488A>C)
c.376A>C (p.Arg126=)
8g.132873220A>GCA372247760TGc.637A>G (p.Arg213Gly)
c.*488A>G (n.*488A>G)
c.376A>G (p.Arg126Gly)
 dbSNP
8g.132873220A>TCA372247762TGc.637A>T (p.Arg213Trp)
c.*488A>T (n.*488A>T)
c.376A>T (p.Arg126Trp)
8g.132873221G>ACA372247765TGc.638G>A (p.Arg213Lys)
c.*489G>A (n.*489G>A)
c.377G>A (p.Arg126Lys)
8g.132873221G>CCA372247767TGc.638G>C (p.Arg213Thr)
c.*489G>C (n.*489G>C)
c.377G>C (p.Arg126Thr)
 dbSNP
8g.132873221G=CA1820984274TGc.638G= (p.Arg213=)
c.*489G= (n.*489G=)
c.377G= (p.Arg126=)
8g.132873221G>TCA372247769TGc.638G>T (p.Arg213Met)
c.*489G>T (n.*489G>T)
c.377G>T (p.Arg126Met)
8g.132873222G>ACA372247777TGc.638+1G>A (n.638+1G>A)
c.*489+1G>A (n.*489+1G>A)
c.377+1G>A (n.377+1G>A)
 ClinVar dbSNP
8g.132873222G>CCA372247774TGc.638+1G>C (n.638+1G>C)
c.*489+1G>C (n.*489+1G>C)
c.377+1G>C (n.377+1G>C)
8g.132873222G=CA1820984275TGc.638+1G= (n.638+1G=)
c.*489+1G= (n.*489+1G=)
c.377+1G= (n.377+1G=)
8g.132873222G>TCA372247771TGc.638+1G>T (n.638+1G>T)
c.*489+1G>T (n.*489+1G>T)
c.377+1G>T (n.377+1G>T)
8g.132873223T>ACA372247780TGc.638+2T>A (n.638+2T>A)
c.*489+2T>A (n.*489+2T>A)
c.377+2T>A (n.377+2T>A)
8g.132873223T>CCA372247782TGc.638+2T>C (n.638+2T>C)
c.*489+2T>C (n.*489+2T>C)
c.377+2T>C (n.377+2T>C)
8g.132873223T>GCA372247785TGc.638+2T>G (n.638+2T>G)
c.*489+2T>G (n.*489+2T>G)
c.377+2T>G (n.377+2T>G)
8g.132873225A>TCA2718409245TGc.638+4A>T (n.638+4A>T)
c.*489+4A>T (n.*489+4A>T)
c.377+4A>T (n.377+4A>T)
 dbSNP
8g.132873226G>ACA353884TGc.638+5G>A (n.638+5G>A)
c.*489+5G>A (n.*489+5G>A)
c.377+5G>A (n.377+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873226G=CA1820984276TGc.638+5G= (n.638+5G=)
c.*489+5G= (n.*489+5G=)
c.377+5G= (n.377+5G=)
8g.132873227G>ACA4882967TGc.638+6G>A (n.638+6G>A)
c.*489+6G>A (n.*489+6G>A)
c.377+6G>A (n.377+6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873227G>CCA4882966TGc.638+6G>C (n.638+6G>C)
c.*489+6G>C (n.*489+6G>C)
c.377+6G>C (n.377+6G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873227G=CA1820984277TGc.638+6G= (n.638+6G=)
c.*489+6G= (n.*489+6G=)
c.377+6G= (n.377+6G=)
8g.132873228G>ACA2688648040TGc.638+7G>A (n.638+7G>A)
c.*489+7G>A (n.*489+7G>A)
c.377+7G>A (n.377+7G>A)
 gnomAD v4
8g.132873229G>ACA2688648041TGc.638+8G>A (n.638+8G>A)
c.*489+8G>A (n.*489+8G>A)
c.377+8G>A (n.377+8G>A)
 ClinVar gnomAD v4
8g.132873231G>ACA2688648043TGc.638+10G>A (n.638+10G>A)
c.*489+10G>A (n.*489+10G>A)
c.377+10G>A (n.377+10G>A)
 gnomAD v4
8g.132873233_132873242delCA2688648042TGc.638+12_638+21del (n.638+12_638+21del)
c.*489+12_*489+21del (n.*489+12_*489+21del)
c.377+12_377+21del (n.377+12_377+21del)
 ClinVar gnomAD v4
8g.132873232C>GCA2688648044TGc.638+11C>G (n.638+11C>G)
c.*489+11C>G (n.*489+11C>G)
c.377+11C>G (n.377+11C>G)
 gnomAD v4
8g.132873233_132873234delinsAGCA1820984278TGc.638+12_638+13delinsAG (n.638+12_638+13delinsAG)
c.*489+12_*489+13delinsAG (n.*489+12_*489+13delinsAG)
c.377+12_377+13delinsAG (n.377+12_377+13delinsAG)
8g.132873234G>ACA186328664TGc.638+13G>A (n.638+13G>A)
c.*489+13G>A (n.*489+13G>A)
c.377+13G>A (n.377+13G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.132873234G=CA1820984280TGc.638+13G= (n.638+13G=)
c.*489+13G= (n.*489+13G=)
c.377+13G= (n.377+13G=)
8g.132873237delCA1820984279TGc.638+16del (n.638+16del)
c.*489+16del (n.*489+16del)
c.377+16del (n.377+16del)
 dbSNP gnomAD v4
8g.132873235G>ACA4882968TGc.638+14G>A (n.638+14G>A)
c.*489+14G>A (n.*489+14G>A)
c.377+14G>A (n.377+14G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873235G=CA1820984281TGc.638+14G= (n.638+14G=)
c.*489+14G= (n.*489+14G=)
c.377+14G= (n.377+14G=)
8g.132873235G>TCA2688648045TGc.638+14G>T (n.638+14G>T)
c.*489+14G>T (n.*489+14G>T)
c.377+14G>T (n.377+14G>T)
 gnomAD v4
8g.132873236G>CCA4882969TGc.638+15G>C (n.638+15G>C)
c.*489+15G>C (n.*489+15G>C)
c.377+15G>C (n.377+15G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873236G=CA1820984282TGc.638+15G= (n.638+15G=)
c.*489+15G= (n.*489+15G=)
c.377+15G= (n.377+15G=)
8g.132873236G>TCA2841422308TGc.638+15G>T (n.638+15G>T)
c.*489+15G>T (n.*489+15G>T)
c.377+15G>T (n.377+15G>T)
8g.132873237G>ACA2688648046TGc.638+16G>A (n.638+16G>A)
c.*489+16G>A (n.*489+16G>A)
c.377+16G>A (n.377+16G>A)
 gnomAD v4
8g.132873237G>TCA2688648047TGc.638+16G>T (n.638+16G>T)
c.*489+16G>T (n.*489+16G>T)
c.377+16G>T (n.377+16G>T)
 gnomAD v4
8g.132873238T>CCA584914003TGc.638+17T>C (n.638+17T>C)
c.*489+17T>C (n.*489+17T>C)
c.377+17T>C (n.377+17T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132873238T=CA1820984283TGc.638+17T= (n.638+17T=)
c.*489+17T= (n.*489+17T=)
c.377+17T= (n.377+17T=)
8g.132873239G>ACA2579253658TGc.638+18G>A (n.638+18G>A)
c.*489+18G>A (n.*489+18G>A)
c.377+18G>A (n.377+18G>A)
 gnomAD v4
8g.132873239G>CCA1820984284TGc.638+18G>C (n.638+18G>C)
c.*489+18G>C (n.*489+18G>C)
c.377+18G>C (n.377+18G>C)
 ClinVar dbSNP
8g.132873239G=CA1820984285TGc.638+18G= (n.638+18G=)
c.*489+18G= (n.*489+18G=)
c.377+18G= (n.377+18G=)
8g.132873239G>TCA2841422309TGc.638+18G>T (n.638+18G>T)
c.*489+18G>T (n.*489+18G>T)
c.377+18G>T (n.377+18G>T)
8g.132873240dupCA2688648048TGc.638+19dup (n.638+19dup)
c.*489+19dup (n.*489+19dup)
c.377+19dup (n.377+19dup)
 gnomAD v4
8g.132873241G>ACA1820984287TGc.638+20G>A (n.638+20G>A)
c.*489+20G>A (n.*489+20G>A)
c.377+20G>A (n.377+20G>A)
 dbSNP gnomAD v4
8g.132873241G=CA1820984286TGc.638+20G= (n.638+20G=)
c.*489+20G= (n.*489+20G=)
c.377+20G= (n.377+20G=)
8g.132873243delCA2688648050TGc.638+22del (n.638+22del)
c.*489+22del (n.*489+22del)
c.377+22del (n.377+22del)
 gnomAD v4
8g.132873244A=CA1820984288TGc.638+23A= (n.638+23A=)
c.*489+23A= (n.*489+23A=)
c.377+23A= (n.377+23A=)
8g.132873244A>GCA2688648051TGc.638+23A>G (n.638+23A>G)
c.*489+23A>G (n.*489+23A>G)
c.377+23A>G (n.377+23A>G)
 gnomAD v4
8g.132873244A>TCA4882970TGc.638+23A>T (n.638+23A>T)
c.*489+23A>T (n.*489+23A>T)
c.377+23A>T (n.377+23A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873245G=CA1820984289TGc.638+24G= (n.638+24G=)
c.*489+24G= (n.*489+24G=)
c.377+24G= (n.377+24G=)
8g.132873245G>TCA584914004TGc.638+24G>T (n.638+24G>T)
c.*489+24G>T (n.*489+24G>T)
c.377+24G>T (n.377+24G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.132873246T>CCA2530916621TGc.638+25T>C (n.638+25T>C)
c.*489+25T>C (n.*489+25T>C)
c.377+25T>C (n.377+25T>C)
 gnomAD v4
8g.132873247C=CA1820984290TGc.638+26C= (n.638+26C=)
c.*489+26C= (n.*489+26C=)
c.377+26C= (n.377+26C=)
8g.132873247C>TCA4882971TGc.638+26C>T (n.638+26C>T)
c.*489+26C>T (n.*489+26C>T)
c.377+26C>T (n.377+26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873249C=CA1820984291TGc.638+28C= (n.638+28C=)
c.*489+28C= (n.*489+28C=)
c.377+28C= (n.377+28C=)
8g.132873249C>TCA4882972TGc.638+28C>T (n.638+28C>T)
c.*489+28C>T (n.*489+28C>T)
c.377+28C>T (n.377+28C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132873250T>GCA2688648052TGc.638+29T>G (n.638+29T>G)
c.*489+29T>G (n.*489+29T>G)
c.377+29T>G (n.377+29T>G)
 gnomAD v4
8g.132873251G>TCA2841422310TGc.638+30G>T (n.638+30G>T)
c.*489+30G>T (n.*489+30G>T)
c.377+30G>T (n.377+30G>T)
8g.132873253delCA2839968316TGc.638+32del (n.638+32del)
c.*489+32del (n.*489+32del)
c.377+32del (n.377+32del)
8g.132873252G>ACA186328688TGc.638+31G>A (n.638+31G>A)
c.*489+31G>A (n.*489+31G>A)
c.377+31G>A (n.377+31G>A)
 dbSNP
8g.132873252G=CA1820984292TGc.638+31G= (n.638+31G=)
c.*489+31G= (n.*489+31G=)
c.377+31G= (n.377+31G=)
8g.132873254C>TCA2688648053TGc.638+33C>T (n.638+33C>T)
c.*489+33C>T (n.*489+33C>T)
c.377+33C>T (n.377+33C>T)
 gnomAD v4
8g.132873255C>TCA2838790459TGc.638+34C>T (n.638+34C>T)
c.*489+34C>T (n.*489+34C>T)
c.377+34C>T (n.377+34C>T)
8g.132873256A=CA1820984293TGc.638+35A= (n.638+35A=)
c.*489+35A= (n.*489+35A=)
c.377+35A= (n.377+35A=)
8g.132873256A>GCA847698081TGc.638+35A>G (n.638+35A>G)
c.*489+35A>G (n.*489+35A>G)
c.377+35A>G (n.377+35A>G)
 dbSNP gnomAD v4
8g.132873257T>CCA2688648055TGc.638+36T>C (n.638+36T>C)
c.*489+36T>C (n.*489+36T>C)
c.377+36T>C (n.377+36T>C)
 gnomAD v4
8g.132873263_132873282dupCA2688648054TGc.638+42_638+61dup (n.638+42_638+61dup)
c.*489+42_*489+61dup (n.*489+42_*489+61dup)
c.377+42_377+61dup (n.377+42_377+61dup)
 gnomAD v4
8g.132873258C>TCA2839170025TGc.638+37C>T (n.638+37C>T)
c.*489+37C>T (n.*489+37C>T)
c.377+37C>T (n.377+37C>T)
8g.132873260C>ACA2579253659TGc.638+39C>A (n.638+39C>A)
c.*489+39C>A (n.*489+39C>A)
c.377+39C>A (n.377+39C>A)
 gnomAD v4
8g.132873260C>TCA2688648056TGc.638+39C>T (n.638+39C>T)
c.*489+39C>T (n.*489+39C>T)
c.377+39C>T (n.377+39C>T)
 gnomAD v4
8g.132873265C=CA1820984294TGc.638+44C= (n.638+44C=)
c.*489+44C= (n.*489+44C=)
c.377+44C= (n.377+44C=)
8g.132873265C>TCA4882973TGc.638+44C>T (n.638+44C>T)
c.*489+44C>T (n.*489+44C>T)
c.377+44C>T (n.377+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132873266G>ACA4882974TGc.638+45G>A (n.638+45G>A)
c.*489+45G>A (n.*489+45G>A)
c.377+45G>A (n.377+45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873266G=CA1820984295TGc.638+45G= (n.638+45G=)
c.*489+45G= (n.*489+45G=)
c.377+45G= (n.377+45G=)
8g.132873267C>ACA2688648057TGc.638+46C>A (n.638+46C>A)
c.*489+46C>A (n.*489+46C>A)
c.377+46C>A (n.377+46C>A)
 gnomAD v4
8g.132873267C>TCA2604872090TGc.638+46C>T (n.638+46C>T)
c.*489+46C>T (n.*489+46C>T)
c.377+46C>T (n.377+46C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.132873268A>GCA2688648058TGc.638+47A>G (n.638+47A>G)
c.*489+47A>G (n.*489+47A>G)
c.377+47A>G (n.377+47A>G)
 gnomAD v4
8g.132873269G>ACA2688648059TGc.638+48G>A (n.638+48G>A)
c.*489+48G>A (n.*489+48G>A)
c.377+48G>A (n.377+48G>A)
 gnomAD v4
8g.132873270C>ACA4882975TGc.638+49C>A (n.638+49C>A)
c.*489+49C>A (n.*489+49C>A)
c.377+49C>A (n.377+49C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132873270C=CA1820984296TGc.638+49C= (n.638+49C=)
c.*489+49C= (n.*489+49C=)
c.377+49C= (n.377+49C=)
8g.132873271C>GCA2688648060TGc.638+50C>G (n.638+50C>G)
c.*489+50C>G (n.*489+50C>G)
c.377+50C>G (n.377+50C>G)
 gnomAD v4
8g.132873272C=CA1820984297TGc.638+51C= (n.638+51C=)
c.*489+51C= (n.*489+51C=)
c.377+51C= (n.377+51C=)
8g.132873272C>TCA186328695TGc.638+51C>T (n.638+51C>T)
c.*489+51C>T (n.*489+51C>T)
c.377+51C>T (n.377+51C>T)
 dbSNP gnomAD v4

Number of alleles fetched