Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.120632027_120635038del | CA2582342871 | HGD | c.1007-1709_1188+1121del c.286-1709_467+1121del c.782-1709_963+1121del c.584-1709_765+1121del | ClinVar |
3 | g.120633223T>A | CA354072814 | HGD | c.1112A>T (p.His371Leu) n.452A>T c.391A>T (n.391A>T) c.887A>T (p.His296Leu) c.689A>T (p.His230Leu) | |
3 | g.120633223T>C | CA277917 | HGD | c.1112A>G (p.His371Arg) n.452A>G c.391A>G (n.391A>G) c.887A>G (p.His296Arg) c.689A>G (p.His230Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633223T>G | CA354072815 | HGD | c.1112A>C (p.His371Pro) n.452A>C c.391A>C (n.391A>C) c.887A>C (p.His296Pro) c.689A>C (p.His230Pro) | |
3 | g.120633223T= | CA1397090724 | HGD | c.1112A= (p.His371=) n.452A= c.391A= (n.391A=) c.887A= (p.His296=) c.689A= (p.His230=) | |
3 | g.120633223dup | CA2580068663 | HGD | c.1112dup (p.His371GlnfsTer4) n.452dup c.391dup (n.391dup) c.887dup (p.His296GlnfsTer4) c.689dup (p.His230GlnfsTer4) | ClinVar gnomAD v4 |
3 | g.120633224G>A | CA354072816 | HGD | c.1111C>T (p.His371Tyr) n.451C>T c.390C>T (n.390C>T) c.886C>T (p.His296Tyr) c.688C>T (p.His230Tyr) | |
3 | g.120633224G>C | CA354072817 | HGD | c.1111C>G (p.His371Asp) n.451C>G c.390C>G (n.390C>G) c.886C>G (p.His296Asp) c.688C>G (p.His230Asp) | |
3 | g.120633224G= | CA1397090725 | HGD | c.1111C= (p.His371=) n.451C= c.390C= (n.390C=) c.886C= (p.His296=) c.688C= (p.His230=) | |
3 | g.120633224G>T | CA81777944 | HGD | c.1111C>A (p.His371Asn) n.451C>A c.390C>A (n.390C>A) c.886C>A (p.His296Asn) c.688C>A (p.His230Asn) | dbSNP gnomAD v4 |
3 | g.120633229dup | CA344902 | HGD | c.1111dup (p.His371ProfsTer4) n.451dup c.390dup (n.390dup) c.886dup (p.His296ProfsTer4) c.688dup (p.His230ProfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633229del | CA2573136433 | HGD | c.1111del (p.His371MetfsTer?) n.451del c.390del (n.390del) c.886del (p.His296MetfsTer?) c.688del (p.His230MetfsTer?) | ClinVar dbSNP gnomAD v4 |
3 | g.120633225G>A | CA435225923 | HGD | c.1110C>T (p.Pro370=) n.450C>T c.389C>T (n.389C>T) c.885C>T (p.Pro295=) c.687C>T (p.Pro229=) | ClinVar gnomAD v4 |
3 | g.120633225G>C | CA435225925 | HGD | c.1110C>G (p.Pro370=) n.450C>G c.389C>G (n.389C>G) c.885C>G (p.Pro295=) c.687C>G (p.Pro229=) | |
3 | g.120633225G= | CA1397090726 | HGD | c.1110C= (p.Pro370=) n.450C= c.389C= (n.389C=) c.885C= (p.Pro295=) c.687C= (p.Pro229=) | |
3 | g.120633225G>T | CA2559967 | HGD | c.1110C>A (p.Pro370=) n.450C>A c.389C>A (n.389C>A) c.885C>A (p.Pro295=) c.687C>A (p.Pro229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.120633226G>A | CA354072818 | HGD | c.1109C>T (p.Pro370Leu) n.449C>T c.388C>T (n.388C>T) c.884C>T (p.Pro295Leu) c.686C>T (p.Pro229Leu) | COSMIC |
3 | g.120633226G>C | CA354072819 | HGD | c.1109C>G (p.Pro370Arg) n.449C>G c.388C>G (n.388C>G) c.884C>G (p.Pro295Arg) c.686C>G (p.Pro229Arg) | |
3 | g.120633226G>T | CA354072820 | HGD | c.1109C>A (p.Pro370His) n.449C>A c.388C>A (n.388C>A) c.884C>A (p.Pro295His) c.686C>A (p.Pro229His) | |
3 | g.120633227G>A | CA354072821 | HGD | c.1108C>T (p.Pro370Ser) n.448C>T c.387C>T (n.387C>T) c.883C>T (p.Pro295Ser) c.685C>T (p.Pro229Ser) | gnomAD v4 |
3 | g.120633227G>C | CA354072822 | HGD | c.1108C>G (p.Pro370Ala) n.448C>G c.387C>G (n.387C>G) c.883C>G (p.Pro295Ala) c.685C>G (p.Pro229Ala) | |
3 | g.120633227G>T | CA354072823 | HGD | c.1108C>A (p.Pro370Thr) n.448C>A c.387C>A (n.387C>A) c.883C>A (p.Pro295Thr) c.685C>A (p.Pro229Thr) | |
3 | g.120633228G>A | CA435225939 | HGD | c.1107C>T (p.Thr369=) n.447C>T c.386C>T (n.386C>T) c.882C>T (p.Thr294=) c.684C>T (p.Thr228=) | |
3 | g.120633228G>C | CA435225936 | HGD | c.1107C>G (p.Thr369=) n.447C>G c.386C>G (n.386C>G) c.882C>G (p.Thr294=) c.684C>G (p.Thr228=) | |
3 | g.120633228G= | CA1397090727 | HGD | c.1107C= (p.Thr369=) n.447C= c.386C= (n.386C=) c.882C= (p.Thr294=) c.684C= (p.Thr228=) | |
3 | g.120633228G>T | CA435225935 | HGD | c.1107C>A (p.Thr369=) n.447C>A c.386C>A (n.386C>A) c.882C>A (p.Thr294=) c.684C>A (p.Thr228=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.120633229G>A | CA354072824 | HGD | c.1106C>T (p.Thr369Ile) n.446C>T c.385C>T (n.385C>T) c.881C>T (p.Thr294Ile) c.683C>T (p.Thr228Ile) | |
3 | g.120633229G>C | CA354072825 | HGD | c.1106C>G (p.Thr369Ser) n.446C>G c.385C>G (n.385C>G) c.881C>G (p.Thr294Ser) c.683C>G (p.Thr228Ser) | gnomAD v3 gnomAD v4 |
3 | g.120633229G= | CA1397090728 | HGD | c.1106C= (p.Thr369=) n.446C= c.385C= (n.385C=) c.881C= (p.Thr294=) c.683C= (p.Thr228=) | |
3 | g.120633229G>T | CA2559968 | HGD | c.1106C>A (p.Thr369Asn) n.446C>A c.385C>A (n.385C>A) c.881C>A (p.Thr294Asn) c.683C>A (p.Thr228Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633230T>A | CA354072826 | HGD | c.1105A>T (p.Thr369Ser) n.445A>T c.384A>T (n.384A>T) c.880A>T (p.Thr294Ser) c.682A>T (p.Thr228Ser) | |
3 | g.120633230T>C | CA354072827 | HGD | c.1105A>G (p.Thr369Ala) n.445A>G c.384A>G (n.384A>G) c.880A>G (p.Thr294Ala) c.682A>G (p.Thr228Ala) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.120633230T>G | CA354072828 | HGD | c.1105A>C (p.Thr369Pro) n.445A>C c.384A>C (n.384A>C) c.880A>C (p.Thr294Pro) c.682A>C (p.Thr228Pro) | |
3 | g.120633230T= | CA1397090729 | HGD | c.1105A= (p.Thr369=) n.445A= c.384A= (n.384A=) c.880A= (p.Thr294=) c.682A= (p.Thr228=) | |
3 | g.120633231C>A | CA354072829 | HGD | c.1104G>T (p.Met368Ile) n.444G>T c.383G>T (n.383G>T) c.879G>T (p.Met293Ile) c.681G>T (p.Met227Ile) | dbSNP |
3 | g.120633231C= | CA1397090730 | HGD | c.1104G= (p.Met368=) n.444G= c.383G= (n.383G=) c.879G= (p.Met293=) c.681G= (p.Met227=) | |
3 | g.120633231C>G | CA354072830 | HGD | c.1104G>C (p.Met368Ile) n.444G>C c.383G>C (n.383G>C) c.879G>C (p.Met293Ile) c.681G>C (p.Met227Ile) | |
3 | g.120633231C>T | CA354072831 | HGD | c.1104G>A (p.Met368Ile) n.444G>A c.383G>A (n.383G>A) c.879G>A (p.Met293Ile) c.681G>A (p.Met227Ile) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.120633232A>C | CA354072832 | HGD | c.1103T>G (p.Met368Arg) n.443T>G c.382T>G (n.382T>G) c.878T>G (p.Met293Arg) c.680T>G (p.Met227Arg) | |
3 | g.120633232A>G | CA354072833 | HGD | c.1103T>C (p.Met368Thr) n.443T>C c.382T>C (n.382T>C) c.878T>C (p.Met293Thr) c.680T>C (p.Met227Thr) | |
3 | g.120633232A>T | CA354072834 | HGD | c.1103T>A (p.Met368Lys) n.443T>A c.382T>A (n.382T>A) c.878T>A (p.Met293Lys) c.680T>A (p.Met227Lys) | |
3 | g.120633233T>A | CA354072835 | HGD | c.1102A>T (p.Met368Leu) n.442A>T c.381A>T (n.381A>T) c.877A>T (p.Met293Leu) c.679A>T (p.Met227Leu) | |
3 | g.120633233T>C | CA340048 | HGD | c.1102A>G (p.Met368Val) n.442A>G c.381A>G (n.381A>G) c.877A>G (p.Met293Val) c.679A>G (p.Met227Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.120633233T>G | CA354072836 | HGD | c.1102A>C (p.Met368Leu) n.442A>C c.381A>C (n.381A>C) c.877A>C (p.Met293Leu) c.679A>C (p.Met227Leu) | |
3 | g.120633233T= | CA1397090731 | HGD | c.1102A= (p.Met368=) n.442A= c.381A= (n.381A=) c.877A= (p.Met293=) c.679A= (p.Met227=) | |
3 | g.120633234T>A | CA435225960 | HGD | c.1101A>T (p.Thr367=) n.441A>T c.380A>T (n.380A>T) c.876A>T (p.Thr292=) c.678A>T (p.Thr226=) | |
3 | g.120633234T>C | CA435225961 | HGD | c.1101A>G (p.Thr367=) n.441A>G c.380A>G (n.380A>G) c.876A>G (p.Thr292=) c.678A>G (p.Thr226=) | gnomAD v4 |
3 | g.120633234T>G | CA435225962 | HGD | c.1101A>C (p.Thr367=) n.441A>C c.380A>C (n.380A>C) c.876A>C (p.Thr292=) c.678A>C (p.Thr226=) | |
3 | g.120633235G>A | CA354072839 | HGD | c.1100C>T (p.Thr367Ile) n.440C>T c.379C>T (n.379C>T) c.875C>T (p.Thr292Ile) c.677C>T (p.Thr226Ile) | gnomAD v4 |
3 | g.120633235G>C | CA354072837 | HGD | c.1100C>G (p.Thr367Arg) n.440C>G c.379C>G (n.379C>G) c.875C>G (p.Thr292Arg) c.677C>G (p.Thr226Arg) |