Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.26483581G>ACA345087OTOFc.1273C>T (p.Arg425Ter)
c.1318C>T (p.Arg440Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.26483581G>CCA346136782OTOFc.1273C>G (p.Arg425Gly)
c.1318C>G (p.Arg440Gly)
 gnomAD v4
2g.26483581G=CA1239830424OTOFc.1273C= (p.Arg425=)
c.1318C= (p.Arg440=)
2g.26483581G>TCA425207100OTOFc.1273C>A (p.Arg425=)
c.1318C>A (p.Arg440=)
2g.26483582G>ACA425207101OTOFc.1272C>T (p.Tyr424=)
c.1317C>T (p.Tyr439=)
2g.26483582G>CCA346136786OTOFc.1272C>G (p.Tyr424Ter)
c.1317C>G (p.Tyr439Ter)
 ClinVar dbSNP
2g.26483582G=CA1239830427OTOFc.1272C= (p.Tyr424=)
c.1317C= (p.Tyr439=)
2g.26483582G>TCA346136787OTOFc.1272C>A (p.Tyr424Ter)
c.1317C>A (p.Tyr439Ter)
2g.26483583T>ACA346136790OTOFc.1271A>T (p.Tyr424Phe)
c.1316A>T (p.Tyr439Phe)
2g.26483583T>CCA346136791OTOFc.1271A>G (p.Tyr424Cys)
c.1316A>G (p.Tyr439Cys)
2g.26483583T>GCA346136793OTOFc.1271A>C (p.Tyr424Ser)
c.1316A>C (p.Tyr439Ser)
2g.26483584A>CCA346136798OTOFc.1270T>G (p.Tyr424Asp)
c.1315T>G (p.Tyr439Asp)
2g.26483584A>GCA346136795OTOFc.1270T>C (p.Tyr424His)
c.1315T>C (p.Tyr439His)
2g.26483584A>TCA346136796OTOFc.1270T>A (p.Tyr424Asn)
c.1315T>A (p.Tyr439Asn)
2g.26483585A=CA1239830429OTOFc.1269T= (p.Ile423=)
c.1314T= (p.Ile438=)
2g.26483585A>CCA346136799OTOFc.1269T>G (p.Ile423Met)
c.1314T>G (p.Ile438Met)
2g.26483585A>GCA425207106OTOFc.1269T>C (p.Ile423=)
c.1314T>C (p.Ile438=)
2g.26483585A>TCA425207107OTOFc.1269T>A (p.Ile423=)
c.1314T>A (p.Ile438=)
 dbSNP gnomAD v4
2g.26483586A>CCA346136804OTOFc.1268T>G (p.Ile423Ser)
c.1313T>G (p.Ile438Ser)
2g.26483586A>GCA346136802OTOFc.1268T>C (p.Ile423Thr)
c.1313T>C (p.Ile438Thr)
2g.26483586A>TCA346136806OTOFc.1268T>A (p.Ile423Asn)
c.1313T>A (p.Ile438Asn)
2g.26483587T>ACA346136809OTOFc.1267A>T (p.Ile423Phe)
c.1312A>T (p.Ile438Phe)
2g.26483587T>CCA346136814OTOFc.1267A>G (p.Ile423Val)
c.1312A>G (p.Ile438Val)
2g.26483587T>GCA346136811OTOFc.1267A>C (p.Ile423Leu)
c.1312A>C (p.Ile438Leu)
2g.26483590delCA2658239382OTOFc.1267del (p.Ile423PhefsTer10)
c.1312del (p.Ile438PhefsTer10)
 gnomAD v4
2g.26483588T>ACA346136818OTOFc.1266A>T (p.Lys422Asn)
c.1311A>T (p.Lys437Asn)
2g.26483588T>CCA425207173OTOFc.1266A>G (p.Lys422=)
c.1311A>G (p.Lys437=)
2g.26483588T>GCA346136820OTOFc.1266A>C (p.Lys422Asn)
c.1311A>C (p.Lys437Asn)
2g.26483589T>ACA346136824OTOFc.1265A>T (p.Lys422Ile)
c.1310A>T (p.Lys437Ile)
2g.26483589T>CCA346136826OTOFc.1265A>G (p.Lys422Arg)
c.1310A>G (p.Lys437Arg)
2g.26483589T>GCA346136828OTOFc.1265A>C (p.Lys422Thr)
c.1310A>C (p.Lys437Thr)
2g.26483590T>ACA346136831OTOFc.1264A>T (p.Lys422Ter)
c.1309A>T (p.Lys437Ter)
2g.26483590T>CCA346136832OTOFc.1264A>G (p.Lys422Glu)
c.1309A>G (p.Lys437Glu)
2g.26483590T>GCA1564322OTOFc.1264A>C (p.Lys422Gln)
c.1309A>C (p.Lys437Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.26483590T=CA1239830431OTOFc.1264A= (p.Lys422=)
c.1309A= (p.Lys437=)
2g.26483591C>ACA425207174OTOFc.1263G>T (p.Val421=)
c.1308G>T (p.Val436=)
2g.26483591C>GCA425207175OTOFc.1263G>C (p.Val421=)
c.1308G>C (p.Val436=)
2g.26483591C>TCA425207176OTOFc.1263G>A (p.Val421=)
c.1308G>A (p.Val436=)
2g.26483592A=CA1239830433OTOFc.1262T= (p.Val421=)
c.1307T= (p.Val436=)
2g.26483592A>CCA346136842OTOFc.1262T>G (p.Val421Gly)
c.1307T>G (p.Val436Gly)
2g.26483592A>GCA346136844OTOFc.1262T>C (p.Val421Ala)
c.1307T>C (p.Val436Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.26483592A>TCA346136847OTOFc.1262T>A (p.Val421Glu)
c.1307T>A (p.Val436Glu)
2g.26483593C>ACA346136851OTOFc.1261G>T (p.Val421Leu)
c.1306G>T (p.Val436Leu)
2g.26483593C>GCA346136853OTOFc.1261G>C (p.Val421Leu)
c.1306G>C (p.Val436Leu)
2g.26483593C>TCA346136855OTOFc.1261G>A (p.Val421Met)
c.1306G>A (p.Val436Met)
 gnomAD v4
2g.26483594A=CA1239830434OTOFc.1260T= (p.Tyr420=)
c.1305T= (p.Tyr435=)
2g.26483594A>CCA346136858OTOFc.1260T>G (p.Tyr420Ter)
c.1305T>G (p.Tyr435Ter)
2g.26483594A>GCA425207177OTOFc.1260T>C (p.Tyr420=)
c.1305T>C (p.Tyr435=)
 dbSNP gnomAD v2 gnomAD v4
2g.26483594A>TCA346136860OTOFc.1260T>A (p.Tyr420Ter)
c.1305T>A (p.Tyr435Ter)
2g.26483595T>ACA346136863OTOFc.1259A>T (p.Tyr420Phe)
c.1304A>T (p.Tyr435Phe)
 dbSNP

Number of alleles fetched