Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.188988089A=CA1315395565COL3A1c.537A= (p.Pro179=)
2g.188988089A>CCA430308901COL3A1c.537A>C (p.Pro179=)
2g.188988089A>GCA076691COL3A1c.537A>G (p.Pro179=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188988089A>TCA430308902COL3A1c.537A>T (p.Pro179=)
2g.188988090G>ACA349848226COL3A1c.538G>A (p.Gly180Ser)
2g.188988090G>CCA076693COL3A1c.538G>C (p.Gly180Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188988090G=CA1315395566COL3A1c.538G= (p.Gly180=)
2g.188988090G>TCA349848227COL3A1c.538G>T (p.Gly180Cys)
2g.188988091G>ACA006917COL3A1c.539G>A (p.Gly180Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188988091G>CCA349848228COL3A1c.539G>C (p.Gly180Ala)
2g.188988091G=CA1315395567COL3A1c.539G= (p.Gly180=)
2g.188988091G>TCA349848229COL3A1c.539G>T (p.Gly180Val)
2g.188988092C>ACA430308903COL3A1c.540C>A (p.Gly180=)
ClinVar dbSNP gnomAD v4
2g.188988092C=CA1315395568COL3A1c.540C= (p.Gly180=)
2g.188988092C>GCA430308905COL3A1c.540C>G (p.Gly180=)
2g.188988092C>TCA430308904COL3A1c.540C>T (p.Gly180=)
2g.188988093C>ACA349848232COL3A1c.541C>A (p.Pro181Thr)
2g.188988093C>GCA349848231COL3A1c.541C>G (p.Pro181Ala)
2g.188988093C>TCA349848230COL3A1c.541C>T (p.Pro181Ser)
2g.188988094C>ACA349848233COL3A1c.542C>A (p.Pro181His)
2g.188988094C=CA1315395569COL3A1c.542C= (p.Pro181=)
2g.188988094C>GCA349848234COL3A1c.542C>G (p.Pro181Arg)
2g.188988094C>TCA076697COL3A1c.542C>T (p.Pro181Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188988095T>ACA430308906COL3A1c.543T>A (p.Pro181=)
2g.188988095T>CCA430308907COL3A1c.543T>C (p.Pro181=)
gnomAD v4
2g.188988095T>GCA430308908COL3A1c.543T>G (p.Pro181=)
2g.188988096C>ACA349848235COL3A1c.544C>A (p.Pro182Thr)
2g.188988096C>GCA349848236COL3A1c.544C>G (p.Pro182Ala)
2g.188988096C>TCA349848237COL3A1c.544C>T (p.Pro182Ser)
2g.188988097C>ACA349848238COL3A1c.545C>A (p.Pro182His)
2g.188988097C>GCA349848239COL3A1c.545C>G (p.Pro182Arg)
2g.188988097C>TCA349848240COL3A1c.545C>T (p.Pro182Leu)
COSMIC COSMIC
2g.188988098C>ACA62588192COL3A1c.546C>A (p.Pro182=)
ClinVar dbSNP gnomAD v4
2g.188988098C=CA1315395570COL3A1c.546C= (p.Pro182=)
2g.188988098C>GCA430308909COL3A1c.546C>G (p.Pro182=)
2g.188988098C>TCA076699COL3A1c.546C>T (p.Pro182=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188988099G>ACA006927COL3A1c.547G>A (p.Gly183Ser)
ClinVar dbSNP
2g.188988099G>CCA006935COL3A1c.547G>C (p.Gly183Arg)
ClinVar dbSNP
2g.188988099G=CA1315395571COL3A1c.547G= (p.Gly183=)
2g.188988099G>TCA006945COL3A1c.547G>T (p.Gly183Cys)
ClinVar dbSNP COSMIC COSMIC
2g.188988100delCA2662286338COL3A1c.548del (p.Gly183ValfsTer?)
gnomAD v4
2g.188988100G>ACA006956COL3A1c.548G>A (p.Gly183Asp)
ClinVar dbSNP
2g.188988100G>CCA006965COL3A1c.548G>C (p.Gly183Ala)
ClinVar dbSNP
2g.188988100G=CA1315395572COL3A1c.548G= (p.Gly183=)
2g.188988100G>TCA349848241COL3A1c.548G>T (p.Gly183Val)
ClinVar dbSNP
2g.188988101T>ACA430308910COL3A1c.549T>A (p.Gly183=)
2g.188988101T>CCA430308911COL3A1c.549T>C (p.Gly183=)
2g.188988101T>GCA430308912COL3A1c.549T>G (p.Gly183=)
2g.188988102C>ACA349848242COL3A1c.550C>A (p.Pro184Thr)
ClinVar dbSNP
2g.188988102C>GCA349848243COL3A1c.550C>G (p.Pro184Ala)
2g.188988102C>TCA349848244COL3A1c.550C>T (p.Pro184Ser)
COSMIC
2g.188988103C>ACA349848245COL3A1c.551C>A (p.Pro184His)
2g.188988103C>GCA349848246COL3A1c.551C>G (p.Pro184Arg)
2g.188988103C>TCA349848247COL3A1c.551C>T (p.Pro184Leu)
gnomAD v4
2g.188988104C>ACA430308913COL3A1c.552C>A (p.Pro184=)
2g.188988104C=CA1315395573COL3A1c.552C= (p.Pro184=)
2g.188988104C>GCA430308914COL3A1c.552C>G (p.Pro184=)
2g.188988104C>TCA16604071COL3A1c.552C>T (p.Pro184=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.188988105C>ACA349848248COL3A1c.553C>A (p.Pro185Thr)
COSMIC
2g.188988105C=CA1315395574COL3A1c.553C= (p.Pro185=)
2g.188988105C>GCA349848249COL3A1c.553C>G (p.Pro185Ala)
ClinVar dbSNP
2g.188988105C>TCA349848250COL3A1c.553C>T (p.Pro185Ser)
dbSNP
2g.188988106C>ACA349848251COL3A1c.554C>A (p.Pro185His)
gnomAD v4
2g.188988106C=CA1315395576COL3A1c.554C= (p.Pro185=)
2g.188988106C>GCA10587528COL3A1c.554C>G (p.Pro185Arg)
ClinVar dbSNP gnomAD v4
2g.188988106C>TCA349848252COL3A1c.554C>T (p.Pro185Leu)
2g.188988106_188988107delinsCTCA1315395575COL3A1c.554_555delinsCT (p.Pro185=)
2g.188988107delCA006973COL3A1c.555del (p.Gly186ValfsTer?)
ClinVar dbSNP gnomAD v4
2g.188988107T>ACA430308915COL3A1c.555T>A (p.Pro185=)
2g.188988107T>CCA430308916COL3A1c.555T>C (p.Pro185=)
ClinVar
2g.188988107T>GCA430308917COL3A1c.555T>G (p.Pro185=)
2g.188988108G>ACA006982COL3A1c.556G>A (p.Gly186Ser)
ClinVar dbSNP
2g.188988108G>CCA349848254COL3A1c.556G>C (p.Gly186Arg)
2g.188988108G=CA1315395577COL3A1c.556G= (p.Gly186=)
2g.188988108G>TCA349848253COL3A1c.556G>T (p.Gly186Cys)
2g.188988109G>ACA349848255COL3A1c.557G>A (p.Gly186Asp)
COSMIC COSMIC
2g.188988109G>CCA349848256COL3A1c.557G>C (p.Gly186Ala)
2g.188988109G>TCA349848257COL3A1c.557G>T (p.Gly186Val)
2g.188988110T>ACA430308918COL3A1c.558T>A (p.Gly186=)
2g.188988110T>CCA430308919COL3A1c.558T>C (p.Gly186=)
2g.188988110T>GCA430308920COL3A1c.558T>G (p.Gly186=)
2g.188988111A>CCA349848258COL3A1c.559A>C (p.Thr187Pro)
2g.188988111A>GCA349848259COL3A1c.559A>G (p.Thr187Ala)
2g.188988111A>TCA349848260COL3A1c.559A>T (p.Thr187Ser)
2g.188988112C>ACA349848261COL3A1c.560C>A (p.Thr187Lys)
2g.188988112C=CA1315395578COL3A1c.560C= (p.Thr187=)
2g.188988112C>GCA349848262COL3A1c.560C>G (p.Thr187Arg)
2g.188988112C>TCA006991COL3A1c.560C>T (p.Thr187Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188988113A=CA1315395579COL3A1c.561A= (p.Thr187=)
2g.188988113A>CCA430308922COL3A1c.561A>C (p.Thr187=)
ClinVar dbSNP gnomAD v4
2g.188988113A>GCA076704COL3A1c.561A>G (p.Thr187=)
dbSNP ExAC gnomAD v2
2g.188988113A>TCA430308921COL3A1c.561A>T (p.Thr187=)
2g.188988114T>ACA349848263COL3A1c.562T>A (p.Ser188Thr)
gnomAD v4
2g.188988114T>CCA349848264COL3A1c.562T>C (p.Ser188Pro)
2g.188988114T>GCA349848265COL3A1c.562T>G (p.Ser188Ala)
2g.188988115C>ACA349848267COL3A1c.563C>A (p.Ser188Tyr)
gnomAD v4
2g.188988115C>GCA349848268COL3A1c.563C>G (p.Ser188Cys)
2g.188988115C>TCA349848266COL3A1c.563C>T (p.Ser188Phe)
2g.188988116T>ACA430308923COL3A1c.564T>A (p.Ser188=)
2g.188988116T>CCA430308924COL3A1c.564T>C (p.Ser188=)
2g.188988116T>GCA430308925COL3A1c.564T>G (p.Ser188=)
2g.188988117G>ACA007000COL3A1c.565G>A (p.Gly189Ser)
ClinVar dbSNP
2g.188988117G>CCA007010COL3A1c.565G>C (p.Gly189Arg)
ClinVar dbSNP
2g.188988117G=CA1315395580COL3A1c.565G= (p.Gly189=)
2g.188988117G>TCA349848269COL3A1c.565G>T (p.Gly189Cys)
2g.188988118G>ACA349848270COL3A1c.566G>A (p.Gly189Asp)
2g.188988118G>CCA349848271COL3A1c.566G>C (p.Gly189Ala)
2g.188988118G>TCA349848272COL3A1c.566G>T (p.Gly189Val)
2g.188988119T>ACA430308926COL3A1c.567T>A (p.Gly189=)
gnomAD v4
2g.188988119T>CCA62588250COL3A1c.567T>C (p.Gly189=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188988119T>GCA430308927COL3A1c.567T>G (p.Gly189=)
2g.188988119T=CA1315395581COL3A1c.567T= (p.Gly189=)
2g.188988120C>ACA349848273COL3A1c.568C>A (p.His190Asn)
gnomAD v4
2g.188988120C>GCA349848274COL3A1c.568C>G (p.His190Asp)
2g.188988120C>TCA349848275COL3A1c.568C>T (p.His190Tyr)
ClinVar COSMIC
2g.188988121A=CA1315395582COL3A1c.569A= (p.His190=)
2g.188988121A>CCA349848276COL3A1c.569A>C (p.His190Pro)
ClinVar
2g.188988121A>GCA076707COL3A1c.569A>G (p.His190Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.188988121A>TCA349848277COL3A1c.569A>T (p.His190Leu)
2g.188988122delCA913187963COL3A1c.570del (p.Pro191LeufsTer?)
ClinVar
2g.188988122T>ACA349848279COL3A1c.570T>A (p.His190Gln)
2g.188988122T>CCA430308928COL3A1c.570T>C (p.His190=)
ClinVar dbSNP
2g.188988122T>GCA349848278COL3A1c.570T>G (p.His190Gln)
2g.188988123C>ACA349848280COL3A1c.571C>A (p.Pro191Thr)
2g.188988123C>GCA349848281COL3A1c.571C>G (p.Pro191Ala)
2g.188988123C>TCA349848282COL3A1c.571C>T (p.Pro191Ser)
gnomAD v4
2g.188988124C>ACA349848283COL3A1c.572C>A (p.Pro191His)
2g.188988124C>GCA349848284COL3A1c.572C>G (p.Pro191Arg)
2g.188988124C>TCA349848285COL3A1c.572C>T (p.Pro191Leu)
2g.188988125T>ACA430308929COL3A1c.573T>A (p.Pro191=)
2g.188988125T>CCA430308930COL3A1c.573T>C (p.Pro191=)
gnomAD v4
2g.188988125T>GCA430308931COL3A1c.573T>G (p.Pro191=)
2g.188988126G>ACA349848286COL3A1c.574G>A (p.Gly192Ser)
2g.188988126G>CCA349848287COL3A1c.574G>C (p.Gly192Arg)
2g.188988126G=CA1315395583COL3A1c.574G= (p.Gly192=)
2g.188988126G>TCA349848288COL3A1c.574G>T (p.Gly192Cys)
dbSNP
2g.188988127G>ACA349848289COL3A1c.575G>A (p.Gly192Asp)
2g.188988127G>CCA349848290COL3A1c.575G>C (p.Gly192Ala)
2g.188988127G=CA1315395584COL3A1c.575G= (p.Gly192=)
2g.188988127G>TCA007020COL3A1c.575G>T (p.Gly192Val)
ClinVar dbSNP
2g.188988128T>ACA430308932COL3A1c.576T>A (p.Gly192=)
2g.188988128T>CCA430308933COL3A1c.576T>C (p.Gly192=)
ClinVar gnomAD v4
2g.188988128T>GCA430308934COL3A1c.576T>G (p.Gly192=)
2g.188988129T>ACA349848293COL3A1c.577T>A (p.Ser193Thr)
2g.188988129T>CCA349848292COL3A1c.577T>C (p.Ser193Pro)
2g.188988129T>GCA349848291COL3A1c.577T>G (p.Ser193Ala)
gnomAD v4
2g.188988130C>ACA62588255COL3A1c.578C>A (p.Ser193Tyr)
dbSNP
2g.188988130C=CA1315395585COL3A1c.578C= (p.Ser193=)
2g.188988130C>GCA349848294COL3A1c.578C>G (p.Ser193Cys)
2g.188988130C>TCA076708COL3A1c.578C>T (p.Ser193Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.188988131C>ACA430308935COL3A1c.579C>A (p.Ser193=)
2g.188988131C>GCA430308936COL3A1c.579C>G (p.Ser193=)
2g.188988131C>TCA430308937COL3A1c.579C>T (p.Ser193=)
gnomAD v4
2g.188988132C>ACA349848295COL3A1c.580C>A (p.Pro194Thr)
2g.188988132C>GCA349848297COL3A1c.580C>G (p.Pro194Ala)
2g.188988132C>TCA349848296COL3A1c.580C>T (p.Pro194Ser)
2g.188988133C>ACA349848298COL3A1c.581C>A (p.Pro194His)
2g.188988133C>GCA349848299COL3A1c.581C>G (p.Pro194Arg)
gnomAD v4
2g.188988133C>TCA349848300COL3A1c.581C>T (p.Pro194Leu)
gnomAD v4
2g.188988134T>ACA430308938COL3A1c.582T>A (p.Pro194=)
2g.188988134T>CCA430308940COL3A1c.582T>C (p.Pro194=)
2g.188988134T>GCA430308939COL3A1c.582T>G (p.Pro194=)
2g.188988134T=CA1315395586COL3A1c.582T= (p.Pro194=)
2g.188988136_188988150delCA2582342050COL3A1c.582+2_582+16del
ClinVar
2g.188988135G>ACA349848301COL3A1c.582+1G>A (n.582+1G>A)
2g.188988135G>CCA007027COL3A1c.582+1G>C (n.582+1G>C)
ClinVar dbSNP
2g.188988135G=CA1315395587COL3A1c.582+1G= (n.582+1G=)
2g.188988135G>TCA349848302COL3A1c.582+1G>T (n.582+1G>T)
2g.188988138_188988141dupCA1040403874COL3A1c.582+4_582+7dup (n.582+4_582+7dup)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.188988136T>ACA349848303COL3A1c.582+2T>A (n.582+2T>A)
2g.188988136T>CCA349848304COL3A1c.582+2T>C (n.582+2T>C)
ClinVar
2g.188988136T>GCA349848305COL3A1c.582+2T>G (n.582+2T>G)
2g.188988136dupCA007035COL3A1c.582+2dup (n.582+2dup)
ClinVar dbSNP
2g.188988136_188988137delCA2577185096COL3A1c.582+2_582+3del (n.582+2_582+3del)
2g.188988138_188988145delinsAGTATAGCCA1315395588COL3A1c.582+4_582+11delinsAGTATAGC (n.582+4_582+11delinsAGTATAGC)
2g.188988139G>ACA007049COL3A1c.582+5G>A (n.582+5G>A)
ClinVar dbSNP
2g.188988139G=CA1315395589COL3A1c.582+5G= (n.582+5G=)
2g.188988139G>TCA007056COL3A1c.582+5G>T (n.582+5G>T)
ClinVar dbSNP
2g.188988139_188988145delinsACACA913189389COL3A1c.582+5_582+11delinsACA (n.582+5_582+11delinsACA)
ClinVar dbSNP
2g.188988140T>ACA007064COL3A1c.582+6T>A (n.582+6T>A)
ClinVar dbSNP
2g.188988140T>CCA007073COL3A1c.582+6T>C (n.582+6T>C)
ClinVar dbSNP
2g.188988140T=CA1315395590COL3A1c.582+6T= (n.582+6T=)
2g.188988140dupCA2662286353COL3A1c.582+6dup (n.582+6dup)
ClinVar gnomAD v4
2g.188988141A>GCA2662286355COL3A1c.582+7A>G (n.582+7A>G)
dbSNP gnomAD v4
2g.188988142T>CCA2577185097COL3A1c.582+8T>C (n.582+8T>C)
gnomAD v4
2g.188988144G>ACA658796113COL3A1c.582+10G>A (n.582+10G>A)
ClinVar dbSNP
2g.188988144G=CA1315395591COL3A1c.582+10G= (n.582+10G=)
2g.188988145C>ACA2662286356COL3A1c.582+11C>A (n.582+11C>A)
gnomAD v4
2g.188988145C=CA1315395592COL3A1c.582+11C= (n.582+11C=)
2g.188988145C>TCA538440999COL3A1c.582+11C>T (n.582+11C>T)
dbSNP gnomAD v2 gnomAD v4
2g.188988146C=CA1315395593COL3A1c.582+12C= (n.582+12C=)
2g.188988146C>TCA076711COL3A1c.582+12C>T (n.582+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188988147A=CA1315395594COL3A1c.582+13A= (n.582+13A=)
2g.188988147A>GCA62588290COL3A1c.582+13A>G (n.582+13A>G)
dbSNP gnomAD v4
2g.188988148T>CCA076713COL3A1c.582+14T>C (n.582+14T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.188988148T=CA1315395595COL3A1c.582+14T= (n.582+14T=)
2g.188988154_188988156delCA2577185098COL3A1c.582+20_582+22del (n.582+20_582+22del)
2g.188988150G>ACA076715COL3A1c.582+16G>A (n.582+16G>A)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2g.188988150G=CA1315395596COL3A1c.582+16G= (n.582+16G=)
2g.188988152T>CCA2577185099COL3A1c.582+18T>C (n.582+18T>C)
2g.188988153G>ACA2577185100COL3A1c.582+19G>A (n.582+19G>A)
ClinVar gnomAD v4
2g.188988154G>ACA538441000COL3A1c.582+20G>A (n.582+20G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.188988154G=CA1315395597COL3A1c.582+20G= (n.582+20G=)
2g.188988155T>CCA2662286358COL3A1c.582+21T>C (n.582+21T>C)
gnomAD v4
2g.188988157T>ACA1315395598COL3A1c.582+23T>A (n.582+23T>A)
dbSNP gnomAD v4
2g.188988157T>GCA762251745COL3A1c.582+23T>G (n.582+23T>G)
dbSNP
2g.188988157T=CA1315395599COL3A1c.582+23T= (n.582+23T=)
2g.188988158T>CCA2662286359COL3A1c.582+24T>C (n.582+24T>C)
gnomAD v4
2g.188988159T>GCA762251746COL3A1c.582+25T>G (n.582+25T>G)
dbSNP gnomAD v3 gnomAD v4
2g.188988159T=CA1315395600COL3A1c.582+25T= (n.582+25T=)
2g.188988160T>ACA1315395602COL3A1c.582+26T>A (n.582+26T>A)
dbSNP gnomAD v4
2g.188988160T=CA1315395601COL3A1c.582+26T= (n.582+26T=)
2g.188988162T>GCA647380657COL3A1c.582+28T>G (n.582+28T>G)
COSMIC
2g.188988163T>GCA1315395604COL3A1c.582+29T>G (n.582+29T>G)
dbSNP gnomAD v4
2g.188988163T=CA1315395603COL3A1c.582+29T= (n.582+29T=)
2g.188988164_188988165insACAACA2753571894COL3A1c.582+30_582+31insACAA (n.582+30_582+31insACAA)
2g.188988165C>ACA2662286361COL3A1c.582+31C>A (n.582+31C>A)
gnomAD v4
2g.188988165C=CA1315395605COL3A1c.582+31C= (n.582+31C=)
2g.188988165C>TCA538441001COL3A1c.582+31C>T (n.582+31C>T)
dbSNP gnomAD v2 gnomAD v4
2g.188988166T>ACA762251750COL3A1c.582+32T>A (n.582+32T>A)
dbSNP gnomAD v4
2g.188988166T>CCA2662286364COL3A1c.582+32T>C (n.582+32T>C)
gnomAD v4
2g.188988166T=CA1315395606COL3A1c.582+32T= (n.582+32T=)
2g.188988167C>ACA2662286366COL3A1c.582+33C>A (n.582+33C>A)
gnomAD v4
2g.188988167C>TCA2662286367COL3A1c.582+33C>T (n.582+33C>T)
gnomAD v4
2g.188988168A>GCA2577185101COL3A1c.582+34A>G (n.582+34A>G)
2g.188988169T>ACA076717COL3A1c.582+35T>A (n.582+35T>A)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.188988169T>GCA1315395608COL3A1c.582+35T>G (n.582+35T>G)
dbSNP
2g.188988169T=CA1315395607COL3A1c.582+35T= (n.582+35T=)
2g.188988173delCA2577185102COL3A1c.582+39del (n.582+39del)
gnomAD v4
2g.188988172T>CCA076719COL3A1c.582+38T>C (n.582+38T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.188988172T=CA1315395609COL3A1c.582+38T= (n.582+38T=)
2g.188988172_188988173insACACA2753571895COL3A1c.582+38_582+39insACA (n.582+38_582+39insACA)
2g.188988175G>ACA2662286369COL3A1c.582+41G>A (n.582+41G>A)
gnomAD v4
2g.188988176A>GCA2577185103COL3A1c.582+42A>G (n.582+42A>G)
gnomAD v4
2g.188988177A=CA1315395610COL3A1c.582+43A= (n.582+43A=)
2g.188988177A>TCA538441002COL3A1c.582+43A>T (n.582+43A>T)
dbSNP gnomAD v2
2g.188988178A>GCA2662286370COL3A1c.582+44A>G (n.582+44A>G)
gnomAD v4
2g.188988181T>CCA2662286371COL3A1c.582+47T>C (n.582+47T>C)
gnomAD v4
2g.188988182C>ACA2662286372COL3A1c.582+48C>A (n.582+48C>A)
gnomAD v4
2g.188988183A>GCA2753571896COL3A1c.582+49A>G (n.582+49A>G)
2g.188988186T>ACA1315395612COL3A1c.582+52T>A (n.582+52T>A)
dbSNP
2g.188988186T=CA1315395611COL3A1c.582+52T= (n.582+52T=)
2g.188988187T>ACA2577185104COL3A1c.582+53T>A (n.582+53T>A)
gnomAD v4
2g.188988187T>CCA1040403899COL3A1c.582+53T>C (n.582+53T>C)
gnomAD v3 gnomAD v4
2g.188988189A=CA1315395613COL3A1c.582+55A= (n.582+55A=)
2g.188988189A>TCA1315395614COL3A1c.582+55A>T (n.582+55A>T)
dbSNP gnomAD v4
2g.188988189_188990680delinsTATGCAAAATCAAACCA913190219COL3A1c.582+55_798+320delinsTATGCAAAATCAAAC
ClinVar

Number of alleles fetched