Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215404323_215404327dupCA764567462FN1c.3253+81_3253+85dup (n.3253+81_3253+85dup)
dbSNP gnomAD v3 gnomAD v4
2g.215404323_215404327delCA64868265FN1c.3253+81_3253+85del (n.3253+81_3253+85del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404313_215404315dupCA2663003615FN1c.3253+76_3253+78dup (n.3253+76_3253+78dup)
gnomAD v4
2g.215404313_215404315delCA1042244492FN1c.3253+76_3253+78del (n.3253+76_3253+78del)
gnomAD v3 gnomAD v4
2g.215404313_215404314delCA2663003625FN1c.3253+76_3253+77del (n.3253+76_3253+77del)
gnomAD v4
2g.215404314_215404315insGGTCA2663003631FN1c.3253+76_3253+77insCAC (n.3253+76_3253+77insCAC)
gnomAD v4
2g.215404313_215404315delinsGTTCA1327359672FN1c.3253+74_3253+76delinsAAC (n.3253+74_3253+76delinsAAC)
2g.215404313_215404317delinsGTTTTCA1327359671FN1c.3253+72_3253+76delinsAAAAC (n.3253+72_3253+76delinsAAAAC)
2g.215404314T>CCA2663003654FN1c.3253+75A>G (n.3253+75A>G)
gnomAD v4
2g.215404314T>GCA1042244502FN1c.3253+75A>C (n.3253+75A>C)
dbSNP gnomAD v3 gnomAD v4
2g.215404314T=CA1327359675FN1c.3253+75A= (n.3253+75A=)
2g.215404314_215404317delCA539545013FN1c.3253+72_3253+75del (n.3253+72_3253+75del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404317_215404318insTTTTTTCA1042244504FN1c.3253+75_3253+76insAAAAAA (n.3253+75_3253+76insAAAAAA)
gnomAD v3 gnomAD v4
2g.215404317_215404318insTTTTTTTTTTCA2663003660FN1c.3253+75_3253+76insAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAA)
gnomAD v4
2g.215404317_215404318insTTTTTTTTTTTCA2663003659FN1c.3253+75_3253+76insAAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAAA)
gnomAD v4
2g.215404317_215404318insTTTTTTTTTTTTTTTCA2663003656FN1c.3253+75_3253+76insAAAAAAAAAAAAAAA (n.3253+75_3253+76insAAAAAAAAAAAAAAA)
gnomAD v4
2g.215404317dupCA1042244505FN1c.3253+75dup (n.3253+75dup)
dbSNP gnomAD v3 gnomAD v4
2g.215404315_215404317dupCA2663003663FN1c.3253+73_3253+75dup (n.3253+73_3253+75dup)
gnomAD v4
2g.215404316_215404317delCA539545014FN1c.3253+74_3253+75del (n.3253+74_3253+75del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404322_215404323insTTTTTTGTTTTCA2663003662FN1c.3253+75_3253+76insAAAAAACAAAA (n.3253+75_3253+76insAAAAAACAAAA)
gnomAD v4
2g.215404314_215404315insGTTGGCA2663003670FN1c.3253+74_3253+75insCCAAC (n.3253+74_3253+75insCCAAC)
gnomAD v4
2g.215404315T>ACA2663003667FN1c.3253+74A>T (n.3253+74A>T)
gnomAD v4
2g.215404315T>GCA2663003665FN1c.3253+74A>C (n.3253+74A>C)
gnomAD v4
2g.215404315_215404316insGGTCA2663003664FN1c.3253+74_3253+75insCCA (n.3253+74_3253+75insCCA)
gnomAD v4
2g.215404316_215404317insGGTTCA2663003669FN1c.3253+74_3253+75insCCAA (n.3253+74_3253+75insCCAA)
gnomAD v4
2g.215404316T>CCA2663003672FN1c.3253+73A>G (n.3253+73A>G)
gnomAD v4
2g.215404316T>GCA2663003673FN1c.3253+73A>C (n.3253+73A>C)
gnomAD v4
2g.215404318_215404319insGGTTGCA2663003671FN1c.3253+73_3253+74insCCCAA (n.3253+73_3253+74insCCCAA)
gnomAD v4
2g.215404317T>GCA1042244507FN1c.3253+72A>C (n.3253+72A>C)
gnomAD v3 gnomAD v4
2g.215404317_215404318delinsTGCA1327359676FN1c.3253+71_3253+72delinsCA (n.3253+71_3253+72delinsCA)
2g.215404318_215404319dupCA2663003678FN1c.3253+71_3253+72dup (n.3253+71_3253+72dup)
gnomAD v4
2g.215404318_215404319delCA2663003681FN1c.3253+71_3253+72del (n.3253+71_3253+72del)
gnomAD v4
2g.215404318delCA1327359677FN1c.3253+71del (n.3253+71del)
dbSNP gnomAD v4
2g.215404318G>ACA2663003687FN1c.3253+71C>T (n.3253+71C>T)
gnomAD v4
2g.215404318G>CCA2663003688FN1c.3253+71C>G (n.3253+71C>G)
gnomAD v4
2g.215404318G=CA1327359678FN1c.3253+71C= (n.3253+71C=)
2g.215404318G>TCA539545015FN1c.3253+71C>A (n.3253+71C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404318_215404319insGTTTGTCA2663003699FN1c.3253+70_3253+71insACAAAC (n.3253+70_3253+71insACAAAC)
gnomAD v4
2g.215404319T>GCA2663003693FN1c.3253+70A>C (n.3253+70A>C)
gnomAD v4
2g.215404322_215404323insTTTTTCA2663003701FN1c.3253+70_3253+71insAAAAA (n.3253+70_3253+71insAAAAA)
gnomAD v4
2g.215404322_215404323insTTTTTTTTTTCA2663003695FN1c.3253+70_3253+71insAAAAAAAAAA (n.3253+70_3253+71insAAAAAAAAAA)
gnomAD v4
2g.215404322dupCA64868277FN1c.3253+70dup (n.3253+70dup)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404321_215404322dupCA2663003696FN1c.3253+69_3253+70dup (n.3253+69_3253+70dup)
gnomAD v4
2g.215404321T>CCA764567512FN1c.3253+68A>G (n.3253+68A>G)
dbSNP
2g.215404321T=CA1327359679FN1c.3253+68A= (n.3253+68A=)
2g.215404322T>CCA2663003706FN1c.3253+67A>G (n.3253+67A>G)
gnomAD v4
2g.215404322_215404323delinsTGCA1327359680FN1c.3253+66_3253+67delinsCA (n.3253+66_3253+67delinsCA)
2g.215404323_215404324delCA2663003704FN1c.3253+66_3253+67del (n.3253+66_3253+67del)
gnomAD v4
2g.215404323delCA764567522FN1c.3253+66del (n.3253+66del)
dbSNP gnomAD v3 gnomAD v4
2g.215404323G>ACA1327359682FN1c.3253+66C>T (n.3253+66C>T)
dbSNP gnomAD v4
2g.215404323G>CCA764567520FN1c.3253+66C>G (n.3253+66C>G)
dbSNP gnomAD v4
2g.215404323G=CA1327359681FN1c.3253+66C= (n.3253+66C=)
2g.215404323G>TCA11326853FN1c.3253+66C>A (n.3253+66C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404323_215404324insCTTTTCA2663003719FN1c.3253+65_3253+66insAAAAG (n.3253+65_3253+66insAAAAG)
gnomAD v4
2g.215404324T>GCA2663003717FN1c.3253+65A>C (n.3253+65A>C)
gnomAD v4
2g.215404327_215404328insTTTTTCA1042244511FN1c.3253+65_3253+66insAAAAA (n.3253+65_3253+66insAAAAA)
dbSNP gnomAD v3 gnomAD v4
2g.215404327_215404328insTTTTTTCA2577236846FN1c.3253+65_3253+66insAAAAAA (n.3253+65_3253+66insAAAAAA)
2g.215404327_215404328insTTTTTTGTTTTGTTTTTTTTTCA2663003718FN1c.3253+65_3253+66insAAAAACAAAACAAAAAAAAAA (n.3253+65_3253+66insAAAAACAAAACAAAAAAAAAA)
gnomAD v4
2g.215404325_215404327dupCA2663003716FN1c.3253+63_3253+65dup (n.3253+63_3253+65dup)
gnomAD v4
2g.215404327T>CCA2514175071FN1c.3253+62A>G (n.3253+62A>G)
2g.215404327_215404328insTTTTACA2663003723FN1c.3253+61_3253+62insTAAAA (n.3253+61_3253+62insTAAAA)
gnomAD v4
2g.215404327_215404328insTTTTTACA2663003725FN1c.3253+61_3253+62insTAAAAA (n.3253+61_3253+62insTAAAAA)
gnomAD v4
2g.215404328A=CA1327359683FN1c.3253+61T= (n.3253+61T=)
2g.215404328A>TCA1042244517FN1c.3253+61T>A (n.3253+61T>A)
dbSNP gnomAD v3 gnomAD v4
2g.215404330dupCA2577236847FN1c.3253+61dup (n.3253+61dup)
2g.215404329A>CCA2663003727FN1c.3253+60T>G (n.3253+60T>G)
gnomAD v4
2g.215404329A>GCA2663003730FN1c.3253+60T>C (n.3253+60T>C)
gnomAD v4
2g.215404329A>TCA2663003729FN1c.3253+60T>A (n.3253+60T>A)
gnomAD v4
2g.215404331G>ACA2607403507FN1c.3253+58C>T (n.3253+58C>T)
dbSNP gnomAD v3 gnomAD v4
2g.215404331G>TCA1042244519FN1c.3253+58C>A (n.3253+58C>A)
gnomAD v3 gnomAD v4
2g.215404332C>ACA2663003735FN1c.3253+57G>T (n.3253+57G>T)
gnomAD v4
2g.215404332C=CA1327359684FN1c.3253+57G= (n.3253+57G=)
2g.215404332C>GCA1327359685FN1c.3253+57G>C (n.3253+57G>C)
dbSNP
2g.215404332C>TCA2663003736FN1c.3253+57G>A (n.3253+57G>A)
gnomAD v4
2g.215404333A=CA1327359686FN1c.3253+56T= (n.3253+56T=)
2g.215404333A>CCA2663003741FN1c.3253+56T>G (n.3253+56T>G)
gnomAD v4
2g.215404333A>GCA764567525FN1c.3253+56T>C (n.3253+56T>C)
dbSNP gnomAD v3 gnomAD v4
2g.215404333A>TCA2577236848FN1c.3253+56T>A (n.3253+56T>A)
gnomAD v4
2g.215404334T>ACA2663003749FN1c.3253+55A>T (n.3253+55A>T)
gnomAD v4
2g.215404334T>CCA2663003751FN1c.3253+55A>G (n.3253+55A>G)
gnomAD v4
2g.215404334T>GCA64868278FN1c.3253+55A>C (n.3253+55A>C)
dbSNP gnomAD v3 gnomAD v4
2g.215404334T=CA1327359687FN1c.3253+55A= (n.3253+55A=)
2g.215404335G>TCA1042244522FN1c.3253+54C>A (n.3253+54C>A)
gnomAD v3 gnomAD v4
2g.215404336A=CA1327359688FN1c.3253+53T= (n.3253+53T=)
2g.215404336A>GCA764567536FN1c.3253+53T>C (n.3253+53T>C)
dbSNP gnomAD v3 gnomAD v4
2g.215404336A>TCA2663003757FN1c.3253+53T>A (n.3253+53T>A)
gnomAD v4
2g.215404337A>CCA2663003759FN1c.3253+52T>G (n.3253+52T>G)
gnomAD v4
2g.215404337A>GCA2663003760FN1c.3253+52T>C (n.3253+52T>C)
gnomAD v4
2g.215404338G>ACA2577236849FN1c.3253+51C>T (n.3253+51C>T)
gnomAD v4
2g.215404338G>TCA2663003763FN1c.3253+51C>A (n.3253+51C>A)
gnomAD v4
2g.215404339A>TCA2663003764FN1c.3253+50T>A (n.3253+50T>A)
gnomAD v4
2g.215404340A=CA1327359689FN1c.3253+49T= (n.3253+49T=)
2g.215404340A>GCA539545016FN1c.3253+49T>C (n.3253+49T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404341T>ACA2663003765FN1c.3253+48A>T (n.3253+48A>T)
gnomAD v4
2g.215404341T>CCA2663003766FN1c.3253+48A>G (n.3253+48A>G)
gnomAD v4
2g.215404342A>GCA2663003767FN1c.3253+47T>C (n.3253+47T>C)
gnomAD v4
2g.215404342A>TCA2663003768FN1c.3253+47T>A (n.3253+47T>A)
gnomAD v4
2g.215404343G>ACA2663003772FN1c.3253+46C>T (n.3253+46C>T)
gnomAD v4
2g.215404343G>CCA2094757FN1c.3253+46C>G (n.3253+46C>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.215404343G=CA1327359690FN1c.3253+46C= (n.3253+46C=)
2g.215404343G>TCA2663003774FN1c.3253+46C>A (n.3253+46C>A)
gnomAD v4
2g.215404344A=CA1327359691FN1c.3253+45T= (n.3253+45T=)
2g.215404344A>CCA2094758FN1c.3253+45T>G (n.3253+45T>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404344A>GCA2663003778FN1c.3253+45T>C (n.3253+45T>C)
gnomAD v4
2g.215404344A>TCA2663003779FN1c.3253+45T>A (n.3253+45T>A)
gnomAD v4
2g.215404345G>ACA764567543FN1c.3253+44C>T (n.3253+44C>T)
dbSNP gnomAD v4
2g.215404345G>CCA1327359693FN1c.3253+44C>G (n.3253+44C>G)
dbSNP gnomAD v4
2g.215404345G=CA1327359692FN1c.3253+44C= (n.3253+44C=)
2g.215404345G>TCA2663003784FN1c.3253+44C>A (n.3253+44C>A)
gnomAD v4
2g.215404346A=CA1327359694FN1c.3253+43T= (n.3253+43T=)
2g.215404346A>GCA2663003788FN1c.3253+43T>C (n.3253+43T>C)
gnomAD v4
2g.215404346A>TCA2094759FN1c.3253+43T>A (n.3253+43T>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404347A>CCA2663003790FN1c.3253+42T>G (n.3253+42T>G)
gnomAD v4
2g.215404348T>ACA2663003793FN1c.3253+41A>T (n.3253+41A>T)
gnomAD v4
2g.215404348T>CCA2094760FN1c.3253+41A>G (n.3253+41A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.215404348T=CA1327359695FN1c.3253+41A= (n.3253+41A=)
2g.215404349G>ACA539545017FN1c.3253+40C>T (n.3253+40C>T)
dbSNP gnomAD v2 gnomAD v4
2g.215404349G=CA1327359696FN1c.3253+40C= (n.3253+40C=)
2g.215404349G>TCA2663003798FN1c.3253+40C>A (n.3253+40C>A)
gnomAD v4
2g.215404350T>CCA2663003801FN1c.3253+39A>G (n.3253+39A>G)
gnomAD v4
2g.215404351A>GCA2663003804FN1c.3253+38T>C (n.3253+38T>C)
gnomAD v4
2g.215404351A>TCA2663003805FN1c.3253+38T>A (n.3253+38T>A)
gnomAD v4
2g.215404353delCA2663003803FN1c.3253+38del (n.3253+38del)
gnomAD v4
2g.215404352A>CCA2663003808FN1c.3253+37T>G (n.3253+37T>G)
gnomAD v4
2g.215404353A=CA1327359697FN1c.3253+36T= (n.3253+36T=)
2g.215404353A>GCA1327359698FN1c.3253+36T>C (n.3253+36T>C)
dbSNP gnomAD v4
2g.215404354T>ACA2663003809FN1c.3253+35A>T (n.3253+35A>T)
gnomAD v4
2g.215404354T>CCA2094761FN1c.3253+35A>G (n.3253+35A>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.215404354T=CA1327359699FN1c.3253+35A= (n.3253+35A=)
2g.215404355A>GCA2663003811FN1c.3253+34T>C (n.3253+34T>C)
gnomAD v4
2g.215404356T>CCA2094762FN1c.3253+33A>G (n.3253+33A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404356T=CA1327359700FN1c.3253+33A= (n.3253+33A=)
2g.215404357_215404358delinsAGCA1327359701FN1c.3253+31_3253+32delinsCT (n.3253+31_3253+32delinsCT)
2g.215404358delCA539545018FN1c.3253+31del (n.3253+31del)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404358G>ACA539545019FN1c.3253+31C>T (n.3253+31C>T)
dbSNP gnomAD v2 gnomAD v4
2g.215404358G=CA1327359702FN1c.3253+31C= (n.3253+31C=)
2g.215404358G>TCA2663003812FN1c.3253+31C>A (n.3253+31C>A)
gnomAD v4
2g.215404359T>CCA64868279FN1c.3253+30A>G (n.3253+30A>G)
dbSNP
2g.215404359T=CA1327359703FN1c.3253+30A= (n.3253+30A=)
2g.215404360T>CCA2663003815FN1c.3253+29A>G (n.3253+29A>G)
gnomAD v4
2g.215404361A>TCA2663003817FN1c.3253+28T>A (n.3253+28T>A)
gnomAD v4
2g.215404363G>ACA1042244535FN1c.3253+26C>T (n.3253+26C>T)
gnomAD v3 gnomAD v4
2g.215404363G>TCA2663003818FN1c.3253+26C>A (n.3253+26C>A)
gnomAD v4
2g.215404364A=CA1327359704FN1c.3253+25T= (n.3253+25T=)
2g.215404364A>GCA2094763FN1c.3253+25T>C (n.3253+25T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404366A=CA1327359705FN1c.3253+23T= (n.3253+23T=)
2g.215404366A>GCA64868280FN1c.3253+23T>C (n.3253+23T>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404367A>GCA2663003821FN1c.3253+22T>C (n.3253+22T>C)
gnomAD v4
2g.215404368G=CA1327359706FN1c.3253+21C= (n.3253+21C=)
2g.215404368G>TCA2094764FN1c.3253+21C>A (n.3253+21C>A)
dbSNP ExAC gnomAD v2
2g.215404369G>TCA2663003822FN1c.3253+20C>A (n.3253+20C>A)
gnomAD v4
2g.215404371A=CA1327359707FN1c.3253+18T= (n.3253+18T=)
2g.215404371A>CCA2094765FN1c.3253+18T>G (n.3253+18T>G)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.215404372C>ACA2581796532FN1c.3253+17G>T (n.3253+17G>T)
2g.215404372C=CA1327359708FN1c.3253+17G= (n.3253+17G=)
2g.215404372C>GCA2581796537FN1c.3253+17G>C (n.3253+17G>C)
2g.215404372C>TCA2094766FN1c.3253+17G>A (n.3253+17G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404373T>GCA2663003825FN1c.3253+16A>C (n.3253+16A>C)
gnomAD v4
2g.215404375A=CA1327359709FN1c.3253+14T= (n.3253+14T=)
2g.215404375A>CCA1042244539FN1c.3253+14T>G (n.3253+14T>G)
dbSNP gnomAD v3 gnomAD v4
2g.215404377T>CCA647694905FN1c.3253+12A>G (n.3253+12A>G)
COSMIC COSMIC
2g.215404378T>CCA2663003828FN1c.3253+11A>G (n.3253+11A>G)
gnomAD v4
2g.215404381C>ACA2663003829FN1c.3253+8G>T (n.3253+8G>T)
gnomAD v4
2g.215404381C=CA1327359710FN1c.3253+8G= (n.3253+8G=)
2g.215404381C>TCA539545020FN1c.3253+8G>A (n.3253+8G>A)
dbSNP gnomAD v2 gnomAD v4
2g.215404382A>GCA2701535314FN1c.3253+7T>C (n.3253+7T>C)
dbSNP
2g.215404384C=CA1327359711FN1c.3253+5G= (n.3253+5G=)
2g.215404384C>TCA539545021FN1c.3253+5G>A (n.3253+5G>A)
dbSNP gnomAD v2
2g.215404385T>GCA764567569FN1c.3253+4A>C (n.3253+4A>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215404385T=CA1327359712FN1c.3253+4A= (n.3253+4A=)
2g.215404386T>GCA2663003830FN1c.3253+3A>C (n.3253+3A>C)
gnomAD v4
2g.215404387A=CA1327359713FN1c.3253+2T= (n.3253+2T=)
2g.215404387A>CCA350488928FN1c.3253+2T>G (n.3253+2T>G)
2g.215404387A>GCA350488925FN1c.3253+2T>C (n.3253+2T>C)
2g.215404387A>TCA350488927FN1c.3253+2T>A (n.3253+2T>A)
dbSNP
2g.215404388C>ACA350488931FN1c.3253+1G>T (n.3253+1G>T)
2g.215404388C>GCA350488933FN1c.3253+1G>C (n.3253+1G>C)
gnomAD v4
2g.215404388C>TCA350488934FN1c.3253+1G>A (n.3253+1G>A)
gnomAD v4 COSMIC COSMIC
2g.215404389G>ACA431157760FN1c.3253C>T (p.Leu1085=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404389G>CCA350488936FN1c.3253C>G (p.Leu1085Val)
dbSNP gnomAD v4
2g.215404389G=CA1327359714FN1c.3253C= (p.Leu1085=)
2g.215404389G>TCA350488938FN1c.3253C>A (p.Leu1085Met)
2g.215404390T>ACA431157761FN1c.3252A>T (p.Thr1084=)
2g.215404390T>CCA431157762FN1c.3252A>G (p.Thr1084=)
2g.215404390T>GCA431157764FN1c.3252A>C (p.Thr1084=)
dbSNP
2g.215404391G>ACA350488943FN1c.3251C>T (p.Thr1084Ile)
2g.215404391G>CCA350488942FN1c.3251C>G (p.Thr1084Arg)
gnomAD v4
2g.215404391G>TCA350488940FN1c.3251C>A (p.Thr1084Lys)
2g.215404392T>ACA350488946FN1c.3250A>T (p.Thr1084Ser)
2g.215404392T>CCA350488947FN1c.3250A>G (p.Thr1084Ala)
2g.215404392T>GCA350488949FN1c.3250A>C (p.Thr1084Pro)
2g.215404393G>ACA431157765FN1c.3249C>T (p.Thr1083=)
dbSNP gnomAD v3 gnomAD v4
2g.215404393G>CCA431157766FN1c.3249C>G (p.Thr1083=)
2g.215404393G=CA1327359715FN1c.3249C= (p.Thr1083=)
2g.215404393G>TCA431157767FN1c.3249C>A (p.Thr1083=)
2g.215404394G>ACA350488951FN1c.3248C>T (p.Thr1083Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215404394G>CCA350488953FN1c.3248C>G (p.Thr1083Ser)
2g.215404394G=CA1327359716FN1c.3248C= (p.Thr1083=)
2g.215404394G>TCA350488955FN1c.3248C>A (p.Thr1083Asn)
dbSNP
2g.215404395T>ACA350488960FN1c.3247A>T (p.Thr1083Ser)
2g.215404395T>CCA350488956FN1c.3247A>G (p.Thr1083Ala)
2g.215404395T>GCA350488958FN1c.3247A>C (p.Thr1083Pro)
gnomAD v4
2g.215404396A=CA1327359717FN1c.3246T= (p.Phe1082=)
2g.215404396A>CCA350488962FN1c.3246T>G (p.Phe1082Leu)
2g.215404396A>GCA431157769FN1c.3246T>C (p.Phe1082=)
dbSNP
2g.215404396A>TCA350488964FN1c.3246T>A (p.Phe1082Leu)
2g.215404398delCA2754215072FN1c.3246del (p.Phe1082LeufsTer17)
2g.215404397_215404400dupCA2663003847FN1c.3243_3246dup (p.Thr1083LeufsTer19)
gnomAD v4
2g.215404397A>CCA350488965FN1c.3245T>G (p.Phe1082Cys)
2g.215404397A>GCA350488966FN1c.3245T>C (p.Phe1082Ser)
2g.215404397A>TCA350488967FN1c.3245T>A (p.Phe1082Tyr)
2g.215404398A>CCA350488969FN1c.3244T>G (p.Phe1082Val)
2g.215404398A>GCA350488971FN1c.3244T>C (p.Phe1082Leu)
2g.215404398A>TCA350488973FN1c.3244T>A (p.Phe1082Ile)
2g.215404399G>ACA431157773FN1c.3243C>T (p.Val1081=)
2g.215404399G>CCA431157774FN1c.3243C>G (p.Val1081=)
gnomAD v4
2g.215404399G=CA1327359718FN1c.3243C= (p.Val1081=)
2g.215404399G>TCA2094767FN1c.3243C>A (p.Val1081=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215404400A>CCA350488976FN1c.3242T>G (p.Val1081Gly)
2g.215404400A>GCA350488978FN1c.3242T>C (p.Val1081Ala)
gnomAD v4
2g.215404400A>TCA350488979FN1c.3242T>A (p.Val1081Asp)
COSMIC COSMIC
2g.215404401C>ACA350488982FN1c.3241G>T (p.Val1081Phe)
2g.215404401C>GCA350488986FN1c.3241G>C (p.Val1081Leu)
2g.215404401C>TCA350488984FN1c.3241G>A (p.Val1081Ile)
2g.215404402T>ACA431157778FN1c.3240A>T (p.Gly1080=)
2g.215404402T>CCA2094768FN1c.3240A>G (p.Gly1080=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.215404402T>GCA431157779FN1c.3240A>C (p.Gly1080=)
dbSNP gnomAD v2 gnomAD v4
2g.215404402T=CA1327359719FN1c.3240A= (p.Gly1080=)
2g.215404403C>ACA350488988FN1c.3239G>T (p.Gly1080Val)
2g.215404403C>GCA350488990FN1c.3239G>C (p.Gly1080Ala)
2g.215404403C>TCA350488992FN1c.3239G>A (p.Gly1080Glu)
2g.215404404C>ACA350488994FN1c.3238G>T (p.Gly1080Ter)
2g.215404404C>GCA350488996FN1c.3238G>C (p.Gly1080Arg)
2g.215404404C>TCA350488997FN1c.3238G>A (p.Gly1080Arg)
2g.215404405A>CCA431157784FN1c.3237T>G (p.Thr1079=)
2g.215404405A>GCA431157785FN1c.3237T>C (p.Thr1079=)
2g.215404405A>TCA431157786FN1c.3237T>A (p.Thr1079=)
2g.215404406G>ACA350488998FN1c.3236C>T (p.Thr1079Ile)
gnomAD v4
2g.215404406G>CCA350489000FN1c.3236C>G (p.Thr1079Ser)
2g.215404406G=CA1327359720FN1c.3236C= (p.Thr1079=)
2g.215404406G>TCA350489001FN1c.3236C>A (p.Thr1079Asn)
dbSNP gnomAD v3 gnomAD v4
2g.215404407T>ACA350489003FN1c.3235A>T (p.Thr1079Ser)
2g.215404407T>CCA350489005FN1c.3235A>G (p.Thr1079Ala)
2g.215404407T>GCA350489006FN1c.3235A>C (p.Thr1079Pro)
2g.215404408G>ACA431157787FN1c.3234C>T (p.Ala1078=)
2g.215404408G>CCA431157790FN1c.3234C>G (p.Ala1078=)
2g.215404408G>TCA431157791FN1c.3234C>A (p.Ala1078=)
2g.215404409G>ACA2094769FN1c.3233C>T (p.Ala1078Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.215404409G>CCA350489009FN1c.3233C>G (p.Ala1078Gly)
2g.215404409G=CA1327359721FN1c.3233C= (p.Ala1078=)
2g.215404409G>TCA350489007FN1c.3233C>A (p.Ala1078Asp)
2g.215404410C>ACA350489013FN1c.3232G>T (p.Ala1078Ser)
2g.215404410C=CA1327359722FN1c.3232G= (p.Ala1078=)
2g.215404410C>GCA350489014FN1c.3232G>C (p.Ala1078Pro)
2g.215404410C>TCA64868281FN1c.3232G>A (p.Ala1078Thr)
dbSNP gnomAD v3 gnomAD v4
2g.215404411T>ACA350489017FN1c.3231A>T (p.Lys1077Asn)
2g.215404411T>CCA431157795FN1c.3231A>G (p.Lys1077=)
gnomAD v4
2g.215404411T>GCA350489018FN1c.3231A>C (p.Lys1077Asn)
2g.215404412T>ACA350489020FN1c.3230A>T (p.Lys1077Ile)
2g.215404412T>CCA350489022FN1c.3230A>G (p.Lys1077Arg)
2g.215404412T>GCA350489023FN1c.3230A>C (p.Lys1077Thr)
2g.215404413T>ACA350489025FN1c.3229A>T (p.Lys1077Ter)
2g.215404413T>CCA350489027FN1c.3229A>G (p.Lys1077Glu)
gnomAD v4
2g.215404413T>GCA350489028FN1c.3229A>C (p.Lys1077Gln)
2g.215404414G>ACA431157799FN1c.3228C>T (p.Pro1076=)
gnomAD v4
2g.215404414G>CCA431157802FN1c.3228C>G (p.Pro1076=)
2g.215404414G>TCA431157801FN1c.3228C>A (p.Pro1076=)

Number of alleles fetched