Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.13885943T>A | CA2708243019 | DNAH5 | c.2743+21A>T (n.2743+21A>T) c.2698+21A>T (n.2698+21A>T) n.2950+21A>T c.2851+21A>T (n.2851+21A>T) c.1756+21A>T (n.1756+21A>T) c.1345+21A>T (n.1345+21A>T) n.2868+21A>T | dbSNP |
5 | g.13885945T>C | CA2840237647 | DNAH5 | c.2743+19A>G (n.2743+19A>G) c.2698+19A>G (n.2698+19A>G) n.2950+19A>G c.2851+19A>G (n.2851+19A>G) c.1756+19A>G (n.1756+19A>G) c.1345+19A>G (n.1345+19A>G) n.2868+19A>G | |
5 | g.13885945T>G | CA2673277309 | DNAH5 | c.2743+19A>C (n.2743+19A>C) c.2698+19A>C (n.2698+19A>C) n.2950+19A>C c.2851+19A>C (n.2851+19A>C) c.1756+19A>C (n.1756+19A>C) c.1345+19A>C (n.1345+19A>C) n.2868+19A>C | gnomAD v4 |
5 | g.13885946C>A | CA2673277310 | DNAH5 | c.2743+18G>T (n.2743+18G>T) c.2698+18G>T (n.2698+18G>T) n.2950+18G>T c.2851+18G>T (n.2851+18G>T) c.1756+18G>T (n.1756+18G>T) c.1345+18G>T (n.1345+18G>T) n.2868+18G>T | gnomAD v4 |
5 | g.13885946C= | CA1528483779 | DNAH5 | c.2743+18G= (n.2743+18G=) c.2698+18G= (n.2698+18G=) n.2950+18G= c.2851+18G= (n.2851+18G=) c.1756+18G= (n.1756+18G=) c.1345+18G= (n.1345+18G=) n.2868+18G= | |
5 | g.13885946C>T | CA557877044 | DNAH5 | c.2743+18G>A (n.2743+18G>A) c.2698+18G>A (n.2698+18G>A) n.2950+18G>A c.2851+18G>A (n.2851+18G>A) c.1756+18G>A (n.1756+18G>A) c.1345+18G>A (n.1345+18G>A) n.2868+18G>A | dbSNP gnomAD v2 |
5 | g.13885948T>C | CA2673277311 | DNAH5 | c.2743+16A>G (n.2743+16A>G) c.2698+16A>G (n.2698+16A>G) n.2950+16A>G c.2851+16A>G (n.2851+16A>G) c.1756+16A>G (n.1756+16A>G) c.1345+16A>G (n.1345+16A>G) n.2868+16A>G | gnomAD v4 |
5 | g.13885949T>G | CA2673277312 | DNAH5 | c.2743+15A>C (n.2743+15A>C) c.2698+15A>C (n.2698+15A>C) n.2950+15A>C c.2851+15A>C (n.2851+15A>C) c.1756+15A>C (n.1756+15A>C) c.1345+15A>C (n.1345+15A>C) n.2868+15A>C | gnomAD v4 |
5 | g.13885950A= | CA1528483780 | DNAH5 | c.2743+14T= (n.2743+14T=) c.2698+14T= (n.2698+14T=) n.2950+14T= c.2851+14T= (n.2851+14T=) c.1756+14T= (n.1756+14T=) c.1345+14T= (n.1345+14T=) n.2868+14T= | |
5 | g.13885950A>G | CA3204509 | DNAH5 | c.2743+14T>C (n.2743+14T>C) c.2698+14T>C (n.2698+14T>C) n.2950+14T>C c.2851+14T>C (n.2851+14T>C) c.1756+14T>C (n.1756+14T>C) c.1345+14T>C (n.1345+14T>C) n.2868+14T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885951C>T | CA2673277313 | DNAH5 | c.2743+13G>A (n.2743+13G>A) c.2698+13G>A (n.2698+13G>A) n.2950+13G>A c.2851+13G>A (n.2851+13G>A) c.1756+13G>A (n.1756+13G>A) c.1345+13G>A (n.1345+13G>A) n.2868+13G>A | ClinVar gnomAD v4 |
5 | g.13885952C>A | CA2673277314 | DNAH5 | c.2743+12G>T (n.2743+12G>T) c.2698+12G>T (n.2698+12G>T) n.2950+12G>T c.2851+12G>T (n.2851+12G>T) c.1756+12G>T (n.1756+12G>T) c.1345+12G>T (n.1345+12G>T) n.2868+12G>T | ClinVar gnomAD v4 |
5 | g.13885952C= | CA1528483781 | DNAH5 | c.2743+12G= (n.2743+12G=) c.2698+12G= (n.2698+12G=) n.2950+12G= c.2851+12G= (n.2851+12G=) c.1756+12G= (n.1756+12G=) c.1345+12G= (n.1345+12G=) n.2868+12G= | |
5 | g.13885952C>T | CA557877045 | DNAH5 | c.2743+12G>A (n.2743+12G>A) c.2698+12G>A (n.2698+12G>A) n.2950+12G>A c.2851+12G>A (n.2851+12G>A) c.1756+12G>A (n.1756+12G>A) c.1345+12G>A (n.1345+12G>A) n.2868+12G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13885953C= | CA1528483782 | DNAH5 | c.2743+11G= (n.2743+11G=) c.2698+11G= (n.2698+11G=) n.2950+11G= c.2851+11G= (n.2851+11G=) c.1756+11G= (n.1756+11G=) c.1345+11G= (n.1345+11G=) n.2868+11G= | |
5 | g.13885953C>T | CA1528483783 | DNAH5 | c.2743+11G>A (n.2743+11G>A) c.2698+11G>A (n.2698+11G>A) n.2950+11G>A c.2851+11G>A (n.2851+11G>A) c.1756+11G>A (n.1756+11G>A) c.1345+11G>A (n.1345+11G>A) n.2868+11G>A | dbSNP |
5 | g.13885954C>T | CA2580072160 | DNAH5 | c.2743+10G>A (n.2743+10G>A) c.2698+10G>A (n.2698+10G>A) n.2950+10G>A c.2851+10G>A (n.2851+10G>A) c.1756+10G>A (n.1756+10G>A) c.1345+10G>A (n.1345+10G>A) n.2868+10G>A | ClinVar gnomAD v4 |
5 | g.13885955A= | CA1528483784 | DNAH5 | c.2743+9T= (n.2743+9T=) c.2698+9T= (n.2698+9T=) n.2950+9T= c.2851+9T= (n.2851+9T=) c.1756+9T= (n.1756+9T=) c.1345+9T= (n.1345+9T=) n.2868+9T= | |
5 | g.13885955A>G | CA3204510 | DNAH5 | c.2743+9T>C (n.2743+9T>C) c.2698+9T>C (n.2698+9T>C) n.2950+9T>C c.2851+9T>C (n.2851+9T>C) c.1756+9T>C (n.1756+9T>C) c.1345+9T>C (n.1345+9T>C) n.2868+9T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13885956T>A | CA557877046 | DNAH5 | c.2743+8A>T (n.2743+8A>T) c.2698+8A>T (n.2698+8A>T) n.2950+8A>T c.2851+8A>T (n.2851+8A>T) c.1756+8A>T (n.1756+8A>T) c.1345+8A>T (n.1345+8A>T) n.2868+8A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.13885956T= | CA1528483785 | DNAH5 | c.2743+8A= (n.2743+8A=) c.2698+8A= (n.2698+8A=) n.2950+8A= c.2851+8A= (n.2851+8A=) c.1756+8A= (n.1756+8A=) c.1345+8A= (n.1345+8A=) n.2868+8A= | |
5 | g.13885959_13885960dup | CA2697547073 | DNAH5 | c.2743+7_2743+8dup (n.2743+7_2743+8dup) c.2698+7_2698+8dup (n.2698+7_2698+8dup) n.2950+7_2950+8dup c.2851+7_2851+8dup (n.2851+7_2851+8dup) c.1756+7_1756+8dup (n.1756+7_1756+8dup) c.1345+7_1345+8dup (n.1345+7_1345+8dup) n.2868+7_2868+8dup | ClinVar |
5 | g.13885957C>A | CA2499217651 | DNAH5 | c.2743+7G>T (n.2743+7G>T) c.2698+7G>T (n.2698+7G>T) n.2950+7G>T c.2851+7G>T (n.2851+7G>T) c.1756+7G>T (n.1756+7G>T) c.1345+7G>T (n.1345+7G>T) n.2868+7G>T | ClinVar dbSNP |
5 | g.13885957C>G | CA2673277315 | DNAH5 | c.2743+7G>C (n.2743+7G>C) c.2698+7G>C (n.2698+7G>C) n.2950+7G>C c.2851+7G>C (n.2851+7G>C) c.1756+7G>C (n.1756+7G>C) c.1345+7G>C (n.1345+7G>C) n.2868+7G>C | gnomAD v4 |
5 | g.13885958T>C | CA2578270977 | DNAH5 | c.2743+6A>G (n.2743+6A>G) c.2698+6A>G (n.2698+6A>G) n.2950+6A>G c.2851+6A>G (n.2851+6A>G) c.1756+6A>G (n.1756+6A>G) c.1345+6A>G (n.1345+6A>G) n.2868+6A>G | |
5 | g.13885959C>T | CA2839163491 | DNAH5 | c.2743+5G>A (n.2743+5G>A) c.2698+5G>A (n.2698+5G>A) n.2950+5G>A c.2851+5G>A (n.2851+5G>A) c.1756+5G>A (n.1756+5G>A) c.1345+5G>A (n.1345+5G>A) n.2868+5G>A | |
5 | g.13885961T>A | CA3204511 | DNAH5 | c.2743+3A>T (n.2743+3A>T) c.2698+3A>T (n.2698+3A>T) n.2950+3A>T c.2851+3A>T (n.2851+3A>T) c.1756+3A>T (n.1756+3A>T) c.1345+3A>T (n.1345+3A>T) n.2868+3A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885961T>C | CA113933702 | DNAH5 | c.2743+3A>G (n.2743+3A>G) c.2698+3A>G (n.2698+3A>G) n.2950+3A>G c.2851+3A>G (n.2851+3A>G) c.1756+3A>G (n.1756+3A>G) c.1345+3A>G (n.1345+3A>G) n.2868+3A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885961T= | CA1528483786 | DNAH5 | c.2743+3A= (n.2743+3A=) c.2698+3A= (n.2698+3A=) n.2950+3A= c.2851+3A= (n.2851+3A=) c.1756+3A= (n.1756+3A=) c.1345+3A= (n.1345+3A=) n.2868+3A= | |
5 | g.13885962A>C | CA359196010 | DNAH5 | c.2743+2T>G (n.2743+2T>G) c.2698+2T>G (n.2698+2T>G) n.2950+2T>G c.2851+2T>G (n.2851+2T>G) c.1756+2T>G (n.1756+2T>G) c.1345+2T>G (n.1345+2T>G) n.2868+2T>G | |
5 | g.13885962A>G | CA359196011 | DNAH5 | c.2743+2T>C (n.2743+2T>C) c.2698+2T>C (n.2698+2T>C) n.2950+2T>C c.2851+2T>C (n.2851+2T>C) c.1756+2T>C (n.1756+2T>C) c.1345+2T>C (n.1345+2T>C) n.2868+2T>C | |
5 | g.13885962A>T | CA359196012 | DNAH5 | c.2743+2T>A (n.2743+2T>A) c.2698+2T>A (n.2698+2T>A) n.2950+2T>A c.2851+2T>A (n.2851+2T>A) c.1756+2T>A (n.1756+2T>A) c.1345+2T>A (n.1345+2T>A) n.2868+2T>A | |
5 | g.13885963C>A | CA359196014 | DNAH5 | c.2743+1G>T (n.2743+1G>T) c.2698+1G>T (n.2698+1G>T) n.2950+1G>T c.2851+1G>T (n.2851+1G>T) c.1756+1G>T (n.1756+1G>T) c.1345+1G>T (n.1345+1G>T) n.2868+1G>T | |
5 | g.13885963C>G | CA359196017 | DNAH5 | c.2743+1G>C (n.2743+1G>C) c.2698+1G>C (n.2698+1G>C) n.2950+1G>C c.2851+1G>C (n.2851+1G>C) c.1756+1G>C (n.1756+1G>C) c.1345+1G>C (n.1345+1G>C) n.2868+1G>C | |
5 | g.13885963C>T | CA359196016 | DNAH5 | c.2743+1G>A (n.2743+1G>A) c.2698+1G>A (n.2698+1G>A) n.2950+1G>A c.2851+1G>A (n.2851+1G>A) c.1756+1G>A (n.1756+1G>A) c.1345+1G>A (n.1345+1G>A) n.2868+1G>A | gnomAD v4 |
5 | g.13885964C>A | CA359196018 | DNAH5 | c.2743G>T (p.Ala915Ser) c.2698G>T (p.Ala900Ser) n.2950G>T c.2851G>T (p.Ala951Ser) c.1756G>T (p.Ala586Ser) c.1345G>T (p.Ala449Ser) n.2868G>T | |
5 | g.13885964C>G | CA359196019 | DNAH5 | c.2743G>C (p.Ala915Pro) c.2698G>C (p.Ala900Pro) n.2950G>C c.2851G>C (p.Ala951Pro) c.1756G>C (p.Ala586Pro) c.1345G>C (p.Ala449Pro) n.2868G>C | |
5 | g.13885964C>T | CA359196021 | DNAH5 | c.2743G>A (p.Ala915Thr) c.2698G>A (p.Ala900Thr) n.2950G>A c.2851G>A (p.Ala951Thr) c.1756G>A (p.Ala586Thr) c.1345G>A (p.Ala449Thr) n.2868G>A | COSMIC |
5 | g.13885965T>A | CA443273601 | DNAH5 | c.2742A>T (p.Ser914=) c.2697A>T (p.Ser899=) n.2949A>T c.2850A>T (p.Ser950=) c.1755A>T (p.Ser585=) c.1344A>T (p.Ser448=) n.2867A>T | |
5 | g.13885965T>C | CA443273602 | DNAH5 | c.2742A>G (p.Ser914=) c.2697A>G (p.Ser899=) n.2949A>G c.2850A>G (p.Ser950=) c.1755A>G (p.Ser585=) c.1344A>G (p.Ser448=) n.2867A>G | gnomAD v4 |
5 | g.13885965T>G | CA443273603 | DNAH5 | c.2742A>C (p.Ser914=) c.2697A>C (p.Ser899=) n.2949A>C c.2850A>C (p.Ser950=) c.1755A>C (p.Ser585=) c.1344A>C (p.Ser448=) n.2867A>C | |
5 | g.13885966G>A | CA359196023 | DNAH5 | c.2741C>T (p.Ser914Leu) c.2696C>T (p.Ser899Leu) n.2948C>T c.2849C>T (p.Ser950Leu) c.1754C>T (p.Ser585Leu) c.1343C>T (p.Ser448Leu) n.2866C>T | |
5 | g.13885966G>C | CA359196027 | DNAH5 | c.2741C>G (p.Ser914Ter) c.2696C>G (p.Ser899Ter) n.2948C>G c.2849C>G (p.Ser950Ter) c.1754C>G (p.Ser585Ter) c.1343C>G (p.Ser448Ter) n.2866C>G | dbSNP |
5 | g.13885966G= | CA1528483787 | DNAH5 | c.2741C= (p.Ser914=) c.2696C= (p.Ser899=) n.2948C= c.2849C= (p.Ser950=) c.1754C= (p.Ser585=) c.1343C= (p.Ser448=) n.2866C= | |
5 | g.13885966G>T | CA359196029 | DNAH5 | c.2741C>A (p.Ser914Ter) c.2696C>A (p.Ser899Ter) n.2948C>A c.2849C>A (p.Ser950Ter) c.1754C>A (p.Ser585Ter) c.1343C>A (p.Ser448Ter) n.2866C>A | |
5 | g.13885967A= | CA1528483788 | DNAH5 | c.2740T= (p.Ser914=) c.2695T= (p.Ser899=) n.2947T= c.2848T= (p.Ser950=) c.1753T= (p.Ser585=) c.1342T= (p.Ser448=) n.2865T= | |
5 | g.13885967A>C | CA3204512 | DNAH5 | c.2740T>G (p.Ser914Ala) c.2695T>G (p.Ser899Ala) n.2947T>G c.2848T>G (p.Ser950Ala) c.1753T>G (p.Ser585Ala) c.1342T>G (p.Ser448Ala) n.2865T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885967A>G | CA359196030 | DNAH5 | c.2740T>C (p.Ser914Pro) c.2695T>C (p.Ser899Pro) n.2947T>C c.2848T>C (p.Ser950Pro) c.1753T>C (p.Ser585Pro) c.1342T>C (p.Ser448Pro) n.2865T>C | |
5 | g.13885967A>T | CA359196031 | DNAH5 | c.2740T>A (p.Ser914Thr) c.2695T>A (p.Ser899Thr) n.2947T>A c.2848T>A (p.Ser950Thr) c.1753T>A (p.Ser585Thr) c.1342T>A (p.Ser448Thr) n.2865T>A | |
5 | g.13885968A>C | CA359196032 | DNAH5 | c.2739T>G (p.Ser913Arg) c.2694T>G (p.Ser898Arg) n.2946T>G c.2847T>G (p.Ser949Arg) c.1752T>G (p.Ser584Arg) c.1341T>G (p.Ser447Arg) n.2864T>G | ClinVar |
5 | g.13885968A>G | CA443273604 | DNAH5 | c.2739T>C (p.Ser913=) c.2694T>C (p.Ser898=) n.2946T>C c.2847T>C (p.Ser949=) c.1752T>C (p.Ser584=) c.1341T>C (p.Ser447=) n.2864T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13885968A>T | CA359196033 | DNAH5 | c.2739T>A (p.Ser913Arg) c.2694T>A (p.Ser898Arg) n.2946T>A c.2847T>A (p.Ser949Arg) c.1752T>A (p.Ser584Arg) c.1341T>A (p.Ser447Arg) n.2864T>A | |
5 | g.13885969C>A | CA359196034 | DNAH5 | c.2738G>T (p.Ser913Ile) c.2693G>T (p.Ser898Ile) n.2945G>T c.2846G>T (p.Ser949Ile) c.1751G>T (p.Ser584Ile) c.1340G>T (p.Ser447Ile) n.2863G>T | |
5 | g.13885969C>G | CA359196035 | DNAH5 | c.2738G>C (p.Ser913Thr) c.2693G>C (p.Ser898Thr) n.2945G>C c.2846G>C (p.Ser949Thr) c.1751G>C (p.Ser584Thr) c.1340G>C (p.Ser447Thr) n.2863G>C | |
5 | g.13885969C>T | CA359196036 | DNAH5 | c.2738G>A (p.Ser913Asn) c.2693G>A (p.Ser898Asn) n.2945G>A c.2846G>A (p.Ser949Asn) c.1751G>A (p.Ser584Asn) c.1340G>A (p.Ser447Asn) n.2863G>A | |
5 | g.13885970T>A | CA359196039 | DNAH5 | c.2737A>T (p.Ser913Cys) c.2692A>T (p.Ser898Cys) n.2944A>T c.2845A>T (p.Ser949Cys) c.1750A>T (p.Ser584Cys) c.1339A>T (p.Ser447Cys) n.2862A>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13885970T>C | CA359196043 | DNAH5 | c.2737A>G (p.Ser913Gly) c.2692A>G (p.Ser898Gly) n.2944A>G c.2845A>G (p.Ser949Gly) c.1750A>G (p.Ser584Gly) c.1339A>G (p.Ser447Gly) n.2862A>G | |
5 | g.13885970T>G | CA359196041 | DNAH5 | c.2737A>C (p.Ser913Arg) c.2692A>C (p.Ser898Arg) n.2944A>C c.2845A>C (p.Ser949Arg) c.1750A>C (p.Ser584Arg) c.1339A>C (p.Ser447Arg) n.2862A>C | |
5 | g.13885970T= | CA1528483789 | DNAH5 | c.2737A= (p.Ser913=) c.2692A= (p.Ser898=) n.2944A= c.2845A= (p.Ser949=) c.1750A= (p.Ser584=) c.1339A= (p.Ser447=) n.2862A= | |
5 | g.13885971T>A | CA359196045 | DNAH5 | c.2736A>T (p.Glu912Asp) c.2691A>T (p.Glu897Asp) n.2943A>T c.2844A>T (p.Glu948Asp) c.1749A>T (p.Glu583Asp) c.1338A>T (p.Glu446Asp) n.2861A>T | |
5 | g.13885971T>C | CA443273605 | DNAH5 | c.2736A>G (p.Glu912=) c.2691A>G (p.Glu897=) n.2943A>G c.2844A>G (p.Glu948=) c.1749A>G (p.Glu583=) c.1338A>G (p.Glu446=) n.2861A>G | |
5 | g.13885971T>G | CA359196047 | DNAH5 | c.2736A>C (p.Glu912Asp) c.2691A>C (p.Glu897Asp) n.2943A>C c.2844A>C (p.Glu948Asp) c.1749A>C (p.Glu583Asp) c.1338A>C (p.Glu446Asp) n.2861A>C | |
5 | g.13885972T>A | CA3204513 | DNAH5 | c.2735A>T (p.Glu912Val) c.2690A>T (p.Glu897Val) n.2942A>T c.2843A>T (p.Glu948Val) c.1748A>T (p.Glu583Val) c.1337A>T (p.Glu446Val) n.2860A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13885972T>C | CA359196049 | DNAH5 | c.2735A>G (p.Glu912Gly) c.2690A>G (p.Glu897Gly) n.2942A>G c.2843A>G (p.Glu948Gly) c.1748A>G (p.Glu583Gly) c.1337A>G (p.Glu446Gly) n.2860A>G | gnomAD v4 |
5 | g.13885972T>G | CA359196051 | DNAH5 | c.2735A>C (p.Glu912Ala) c.2690A>C (p.Glu897Ala) n.2942A>C c.2843A>C (p.Glu948Ala) c.1748A>C (p.Glu583Ala) c.1337A>C (p.Glu446Ala) n.2860A>C | |
5 | g.13885972T= | CA1528483790 | DNAH5 | c.2735A= (p.Glu912=) c.2690A= (p.Glu897=) n.2942A= c.2843A= (p.Glu948=) c.1748A= (p.Glu583=) c.1337A= (p.Glu446=) n.2860A= | |
5 | g.13885973C>A | CA359196053 | DNAH5 | c.2734G>T (p.Glu912Ter) c.2689G>T (p.Glu897Ter) n.2941G>T c.2842G>T (p.Glu948Ter) c.1747G>T (p.Glu583Ter) c.1336G>T (p.Glu446Ter) n.2859G>T | ClinVar dbSNP gnomAD v4 |
5 | g.13885973C= | CA1528483791 | DNAH5 | c.2734G= (p.Glu912=) c.2689G= (p.Glu897=) n.2941G= c.2842G= (p.Glu948=) c.1747G= (p.Glu583=) c.1336G= (p.Glu446=) n.2859G= | |
5 | g.13885973C>G | CA359196054 | DNAH5 | c.2734G>C (p.Glu912Gln) c.2689G>C (p.Glu897Gln) n.2941G>C c.2842G>C (p.Glu948Gln) c.1747G>C (p.Glu583Gln) c.1336G>C (p.Glu446Gln) n.2859G>C | |
5 | g.13885973C>T | CA359196056 | DNAH5 | c.2734G>A (p.Glu912Lys) c.2689G>A (p.Glu897Lys) n.2941G>A c.2842G>A (p.Glu948Lys) c.1747G>A (p.Glu583Lys) c.1336G>A (p.Glu446Lys) n.2859G>A | COSMIC |
5 | g.13885974A= | CA1528483792 | DNAH5 | c.2733T= (p.Asn911=) c.2688T= (p.Asn896=) n.2940T= c.2841T= (p.Asn947=) c.1746T= (p.Asn582=) c.1335T= (p.Asn445=) n.2858T= | |
5 | g.13885974A>C | CA359196060 | DNAH5 | c.2733T>G (p.Asn911Lys) c.2688T>G (p.Asn896Lys) n.2940T>G c.2841T>G (p.Asn947Lys) c.1746T>G (p.Asn582Lys) c.1335T>G (p.Asn445Lys) n.2858T>G | |
5 | g.13885974A>G | CA443273606 | DNAH5 | c.2733T>C (p.Asn911=) c.2688T>C (p.Asn896=) n.2940T>C c.2841T>C (p.Asn947=) c.1746T>C (p.Asn582=) c.1335T>C (p.Asn445=) n.2858T>C | |
5 | g.13885974A>T | CA359196063 | DNAH5 | c.2733T>A (p.Asn911Lys) c.2688T>A (p.Asn896Lys) n.2940T>A c.2841T>A (p.Asn947Lys) c.1746T>A (p.Asn582Lys) c.1335T>A (p.Asn445Lys) n.2858T>A | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13885975T>A | CA359196065 | DNAH5 | c.2732A>T (p.Asn911Ile) c.2687A>T (p.Asn896Ile) n.2939A>T c.2840A>T (p.Asn947Ile) c.1745A>T (p.Asn582Ile) c.1334A>T (p.Asn445Ile) n.2857A>T | |
5 | g.13885975T>C | CA3204514 | DNAH5 | c.2732A>G (p.Asn911Ser) c.2687A>G (p.Asn896Ser) n.2939A>G c.2840A>G (p.Asn947Ser) c.1745A>G (p.Asn582Ser) c.1334A>G (p.Asn445Ser) n.2857A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885975T>G | CA359196066 | DNAH5 | c.2732A>C (p.Asn911Thr) c.2687A>C (p.Asn896Thr) n.2939A>C c.2840A>C (p.Asn947Thr) c.1745A>C (p.Asn582Thr) c.1334A>C (p.Asn445Thr) n.2857A>C | |
5 | g.13885975T= | CA1528483793 | DNAH5 | c.2732A= (p.Asn911=) c.2687A= (p.Asn896=) n.2939A= c.2840A= (p.Asn947=) c.1745A= (p.Asn582=) c.1334A= (p.Asn445=) n.2857A= | |
5 | g.13885979dup | CA2765351031 | DNAH5 | c.2732dup (p.Asn911LysfsTer2) c.2687dup (p.Asn896LysfsTer2) n.2939dup c.2840dup (p.Asn947LysfsTer2) c.1745dup (p.Asn582LysfsTer2) c.1334dup (p.Asn445LysfsTer2) n.2857dup | |
5 | g.13885976T>A | CA359196071 | DNAH5 | c.2731A>T (p.Asn911Tyr) c.2686A>T (p.Asn896Tyr) n.2938A>T c.2839A>T (p.Asn947Tyr) c.1744A>T (p.Asn582Tyr) c.1333A>T (p.Asn445Tyr) n.2856A>T | |
5 | g.13885976T>C | CA359196075 | DNAH5 | c.2731A>G (p.Asn911Asp) c.2686A>G (p.Asn896Asp) n.2938A>G c.2839A>G (p.Asn947Asp) c.1744A>G (p.Asn582Asp) c.1333A>G (p.Asn445Asp) n.2856A>G | |
5 | g.13885976T>G | CA359196073 | DNAH5 | c.2731A>C (p.Asn911His) c.2686A>C (p.Asn896His) n.2938A>C c.2839A>C (p.Asn947His) c.1744A>C (p.Asn582His) c.1333A>C (p.Asn445His) n.2856A>C | |
5 | g.13885977T>A | CA359196076 | DNAH5 | c.2730A>T (p.Lys910Asn) c.2685A>T (p.Lys895Asn) n.2937A>T c.2838A>T (p.Lys946Asn) c.1743A>T (p.Lys581Asn) c.1332A>T (p.Lys444Asn) n.2855A>T | |
5 | g.13885977T>C | CA443273608 | DNAH5 | c.2730A>G (p.Lys910=) c.2685A>G (p.Lys895=) n.2937A>G c.2838A>G (p.Lys946=) c.1743A>G (p.Lys581=) c.1332A>G (p.Lys444=) n.2855A>G | |
5 | g.13885977T>G | CA359196077 | DNAH5 | c.2730A>C (p.Lys910Asn) c.2685A>C (p.Lys895Asn) n.2937A>C c.2838A>C (p.Lys946Asn) c.1743A>C (p.Lys581Asn) c.1332A>C (p.Lys444Asn) n.2855A>C | |
5 | g.13885978T>A | CA359196079 | DNAH5 | c.2729A>T (p.Lys910Ile) c.2684A>T (p.Lys895Ile) n.2936A>T c.2837A>T (p.Lys946Ile) c.1742A>T (p.Lys581Ile) c.1331A>T (p.Lys444Ile) n.2854A>T | |
5 | g.13885978T>C | CA359196082 | DNAH5 | c.2729A>G (p.Lys910Arg) c.2684A>G (p.Lys895Arg) n.2936A>G c.2837A>G (p.Lys946Arg) c.1742A>G (p.Lys581Arg) c.1331A>G (p.Lys444Arg) n.2854A>G | |
5 | g.13885978T>G | CA359196086 | DNAH5 | c.2729A>C (p.Lys910Thr) c.2684A>C (p.Lys895Thr) n.2936A>C c.2837A>C (p.Lys946Thr) c.1742A>C (p.Lys581Thr) c.1331A>C (p.Lys444Thr) n.2854A>C | |
5 | g.13885979T>A | CA359196089 | DNAH5 | c.2728A>T (p.Lys910Ter) c.2683A>T (p.Lys895Ter) n.2935A>T c.2836A>T (p.Lys946Ter) c.1741A>T (p.Lys581Ter) c.1330A>T (p.Lys444Ter) n.2853A>T | |
5 | g.13885979T>C | CA359196091 | DNAH5 | c.2728A>G (p.Lys910Glu) c.2683A>G (p.Lys895Glu) n.2935A>G c.2836A>G (p.Lys946Glu) c.1741A>G (p.Lys581Glu) c.1330A>G (p.Lys444Glu) n.2853A>G | |
5 | g.13885979T>G | CA359196093 | DNAH5 | c.2728A>C (p.Lys910Gln) c.2683A>C (p.Lys895Gln) n.2935A>C c.2836A>C (p.Lys946Gln) c.1741A>C (p.Lys581Gln) c.1330A>C (p.Lys444Gln) n.2853A>C | |
5 | g.13885980G>A | CA443273610 | DNAH5 | c.2727C>T (p.Tyr909=) c.2682C>T (p.Tyr894=) n.2934C>T c.2835C>T (p.Tyr945=) c.1740C>T (p.Tyr580=) c.1329C>T (p.Tyr443=) n.2852C>T | |
5 | g.13885980G>C | CA359196095 | DNAH5 | c.2727C>G (p.Tyr909Ter) c.2682C>G (p.Tyr894Ter) n.2934C>G c.2835C>G (p.Tyr945Ter) c.1740C>G (p.Tyr580Ter) c.1329C>G (p.Tyr443Ter) n.2852C>G | |
5 | g.13885980G= | CA1528483794 | DNAH5 | c.2727C= (p.Tyr909=) c.2682C= (p.Tyr894=) n.2934C= c.2835C= (p.Tyr945=) c.1740C= (p.Tyr580=) c.1329C= (p.Tyr443=) n.2852C= | |
5 | g.13885980G>T | CA359196097 | DNAH5 | c.2727C>A (p.Tyr909Ter) c.2682C>A (p.Tyr894Ter) n.2934C>A c.2835C>A (p.Tyr945Ter) c.1740C>A (p.Tyr580Ter) c.1329C>A (p.Tyr443Ter) n.2852C>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13885980_13885983del | CA2580072161 | DNAH5 | c.2724_2727del (p.Asn908LysfsTer17) c.2679_2682del (p.Asn893LysfsTer17) n.2931_2934del c.2832_2835del (p.Asn944LysfsTer17) c.1737_1740del (p.Asn579LysfsTer17) c.1326_1329del (p.Asn442LysfsTer17) n.2849_2852del | ClinVar |
5 | g.13885981T>A | CA359196099 | DNAH5 | c.2726A>T (p.Tyr909Phe) c.2681A>T (p.Tyr894Phe) n.2933A>T c.2834A>T (p.Tyr945Phe) c.1739A>T (p.Tyr580Phe) c.1328A>T (p.Tyr443Phe) n.2851A>T | |
5 | g.13885981T>C | CA359196100 | DNAH5 | c.2726A>G (p.Tyr909Cys) c.2681A>G (p.Tyr894Cys) n.2933A>G c.2834A>G (p.Tyr945Cys) c.1739A>G (p.Tyr580Cys) c.1328A>G (p.Tyr443Cys) n.2851A>G | gnomAD v4 |
5 | g.13885981T>G | CA359196101 | DNAH5 | c.2726A>C (p.Tyr909Ser) c.2681A>C (p.Tyr894Ser) n.2933A>C c.2834A>C (p.Tyr945Ser) c.1739A>C (p.Tyr580Ser) c.1328A>C (p.Tyr443Ser) n.2851A>C | |
5 | g.13885982A>C | CA359196105 | DNAH5 | c.2725T>G (p.Tyr909Asp) c.2680T>G (p.Tyr894Asp) n.2932T>G c.2833T>G (p.Tyr945Asp) c.1738T>G (p.Tyr580Asp) c.1327T>G (p.Tyr443Asp) n.2850T>G | |
5 | g.13885982A>G | CA359196103 | DNAH5 | c.2725T>C (p.Tyr909His) c.2680T>C (p.Tyr894His) n.2932T>C c.2833T>C (p.Tyr945His) c.1738T>C (p.Tyr580His) c.1327T>C (p.Tyr443His) n.2850T>C | |
5 | g.13885982A>T | CA359196102 | DNAH5 | c.2725T>A (p.Tyr909Asn) c.2680T>A (p.Tyr894Asn) n.2932T>A c.2833T>A (p.Tyr945Asn) c.1738T>A (p.Tyr580Asn) c.1327T>A (p.Tyr443Asn) n.2850T>A | |
5 | g.13885983A>C | CA359196107 | DNAH5 | c.2724T>G (p.Asn908Lys) c.2679T>G (p.Asn893Lys) n.2931T>G c.2832T>G (p.Asn944Lys) c.1737T>G (p.Asn579Lys) c.1326T>G (p.Asn442Lys) n.2849T>G | |
5 | g.13885983A>G | CA443273613 | DNAH5 | c.2724T>C (p.Asn908=) c.2679T>C (p.Asn893=) n.2931T>C c.2832T>C (p.Asn944=) c.1737T>C (p.Asn579=) c.1326T>C (p.Asn442=) n.2849T>C | |
5 | g.13885983A>T | CA359196110 | DNAH5 | c.2724T>A (p.Asn908Lys) c.2679T>A (p.Asn893Lys) n.2931T>A c.2832T>A (p.Asn944Lys) c.1737T>A (p.Asn579Lys) c.1326T>A (p.Asn442Lys) n.2849T>A | |
5 | g.13885984T>A | CA359196112 | DNAH5 | c.2723A>T (p.Asn908Ile) c.2678A>T (p.Asn893Ile) n.2930A>T c.2831A>T (p.Asn944Ile) c.1736A>T (p.Asn579Ile) c.1325A>T (p.Asn442Ile) n.2848A>T | |
5 | g.13885984T>C | CA113933724 | DNAH5 | c.2723A>G (p.Asn908Ser) c.2678A>G (p.Asn893Ser) n.2930A>G c.2831A>G (p.Asn944Ser) c.1736A>G (p.Asn579Ser) c.1325A>G (p.Asn442Ser) n.2848A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885984T>G | CA359196116 | DNAH5 | c.2723A>C (p.Asn908Thr) c.2678A>C (p.Asn893Thr) n.2930A>C c.2831A>C (p.Asn944Thr) c.1736A>C (p.Asn579Thr) c.1325A>C (p.Asn442Thr) n.2848A>C | |
5 | g.13885984T= | CA1528483795 | DNAH5 | c.2723A= (p.Asn908=) c.2678A= (p.Asn893=) n.2930A= c.2831A= (p.Asn944=) c.1736A= (p.Asn579=) c.1325A= (p.Asn442=) n.2848A= | |
5 | g.13885985T>A | CA359196119 | DNAH5 | c.2722A>T (p.Asn908Tyr) c.2677A>T (p.Asn893Tyr) n.2929A>T c.2830A>T (p.Asn944Tyr) c.1735A>T (p.Asn579Tyr) c.1324A>T (p.Asn442Tyr) n.2847A>T | |
5 | g.13885985T>C | CA359196122 | DNAH5 | c.2722A>G (p.Asn908Asp) c.2677A>G (p.Asn893Asp) n.2929A>G c.2830A>G (p.Asn944Asp) c.1735A>G (p.Asn579Asp) c.1324A>G (p.Asn442Asp) n.2847A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13885985T>G | CA3204515 | DNAH5 | c.2722A>C (p.Asn908His) c.2677A>C (p.Asn893His) n.2929A>C c.2830A>C (p.Asn944His) c.1735A>C (p.Asn579His) c.1324A>C (p.Asn442His) n.2847A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885985T= | CA1528483796 | DNAH5 | c.2722A= (p.Asn908=) c.2677A= (p.Asn893=) n.2929A= c.2830A= (p.Asn944=) c.1735A= (p.Asn579=) c.1324A= (p.Asn442=) n.2847A= | |
5 | g.13885986A>C | CA443273617 | DNAH5 | c.2721T>G (p.Val907=) c.2676T>G (p.Val892=) n.2928T>G c.2829T>G (p.Val943=) c.1734T>G (p.Val578=) c.1323T>G (p.Val441=) n.2846T>G | |
5 | g.13885986A>G | CA443273618 | DNAH5 | c.2721T>C (p.Val907=) c.2676T>C (p.Val892=) n.2928T>C c.2829T>C (p.Val943=) c.1734T>C (p.Val578=) c.1323T>C (p.Val441=) n.2846T>C | |
5 | g.13885986A>T | CA443273619 | DNAH5 | c.2721T>A (p.Val907=) c.2676T>A (p.Val892=) n.2928T>A c.2829T>A (p.Val943=) c.1734T>A (p.Val578=) c.1323T>A (p.Val441=) n.2846T>A | gnomAD v4 |
5 | g.13885986_13885987del | CA2580072162 | DNAH5 | c.2720_2721del (p.Val907GlufsTer5) c.2675_2676del (p.Val892GlufsTer5) n.2927_2928del c.2828_2829del (p.Val943GlufsTer5) c.1733_1734del (p.Val578GlufsTer5) c.1322_1323del (p.Val441GlufsTer5) n.2845_2846del | ClinVar |
5 | g.13885987A>C | CA359196124 | DNAH5 | c.2720T>G (p.Val907Gly) c.2675T>G (p.Val892Gly) n.2927T>G c.2828T>G (p.Val943Gly) c.1733T>G (p.Val578Gly) c.1322T>G (p.Val441Gly) n.2845T>G | |
5 | g.13885987A>G | CA359196125 | DNAH5 | c.2720T>C (p.Val907Ala) c.2675T>C (p.Val892Ala) n.2927T>C c.2828T>C (p.Val943Ala) c.1733T>C (p.Val578Ala) c.1322T>C (p.Val441Ala) n.2845T>C | gnomAD v4 |
5 | g.13885987A>T | CA359196126 | DNAH5 | c.2720T>A (p.Val907Asp) c.2675T>A (p.Val892Asp) n.2927T>A c.2828T>A (p.Val943Asp) c.1733T>A (p.Val578Asp) c.1322T>A (p.Val441Asp) n.2845T>A | |
5 | g.13885988C>A | CA359196131 | DNAH5 | c.2719G>T (p.Val907Phe) c.2674G>T (p.Val892Phe) n.2926G>T c.2827G>T (p.Val943Phe) c.1732G>T (p.Val578Phe) c.1321G>T (p.Val441Phe) n.2844G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13885988C= | CA1528483797 | DNAH5 | c.2719G= (p.Val907=) c.2674G= (p.Val892=) n.2926G= c.2827G= (p.Val943=) c.1732G= (p.Val578=) c.1321G= (p.Val441=) n.2844G= | |
5 | g.13885988C>G | CA359196129 | DNAH5 | c.2719G>C (p.Val907Leu) c.2674G>C (p.Val892Leu) n.2926G>C c.2827G>C (p.Val943Leu) c.1732G>C (p.Val578Leu) c.1321G>C (p.Val441Leu) n.2844G>C | |
5 | g.13885988C>T | CA359196127 | DNAH5 | c.2719G>A (p.Val907Ile) c.2674G>A (p.Val892Ile) n.2926G>A c.2827G>A (p.Val943Ile) c.1732G>A (p.Val578Ile) c.1321G>A (p.Val441Ile) n.2844G>A | ClinVar dbSNP gnomAD v4 |
5 | g.13885989A>C | CA359196133 | DNAH5 | c.2718T>G (p.Ser906Arg) c.2673T>G (p.Ser891Arg) n.2925T>G c.2826T>G (p.Ser942Arg) c.1731T>G (p.Ser577Arg) c.1320T>G (p.Ser440Arg) n.2843T>G | |
5 | g.13885989A>G | CA443273621 | DNAH5 | c.2718T>C (p.Ser906=) c.2673T>C (p.Ser891=) n.2925T>C c.2826T>C (p.Ser942=) c.1731T>C (p.Ser577=) c.1320T>C (p.Ser440=) n.2843T>C | ClinVar dbSNP |
5 | g.13885989A>T | CA359196135 | DNAH5 | c.2718T>A (p.Ser906Arg) c.2673T>A (p.Ser891Arg) n.2925T>A c.2826T>A (p.Ser942Arg) c.1731T>A (p.Ser577Arg) c.1320T>A (p.Ser440Arg) n.2843T>A | |
5 | g.13885990C>A | CA359196137 | DNAH5 | c.2717G>T (p.Ser906Ile) c.2672G>T (p.Ser891Ile) n.2924G>T c.2825G>T (p.Ser942Ile) c.1730G>T (p.Ser577Ile) c.1319G>T (p.Ser440Ile) n.2842G>T | |
5 | g.13885990C= | CA1528483798 | DNAH5 | c.2717G= (p.Ser906=) c.2672G= (p.Ser891=) n.2924G= c.2825G= (p.Ser942=) c.1730G= (p.Ser577=) c.1319G= (p.Ser440=) n.2842G= | |
5 | g.13885990C>G | CA3204516 | DNAH5 | c.2717G>C (p.Ser906Thr) c.2672G>C (p.Ser891Thr) n.2924G>C c.2825G>C (p.Ser942Thr) c.1730G>C (p.Ser577Thr) c.1319G>C (p.Ser440Thr) n.2842G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885990C>T | CA359196145 | DNAH5 | c.2717G>A (p.Ser906Asn) c.2672G>A (p.Ser891Asn) n.2924G>A c.2825G>A (p.Ser942Asn) c.1730G>A (p.Ser577Asn) c.1319G>A (p.Ser440Asn) n.2842G>A | gnomAD v4 |
5 | g.13885990_13885993dup | CA2578270978 | DNAH5 | c.2714_2717dup (p.Ser906ArgfsTer2) c.2669_2672dup (p.Ser891ArgfsTer2) n.2921_2924dup c.2822_2825dup (p.Ser942ArgfsTer2) c.1727_1730dup (p.Ser577ArgfsTer2) c.1316_1319dup (p.Ser440ArgfsTer2) n.2839_2842dup | ClinVar gnomAD v4 |
5 | g.13885991T>A | CA359196146 | DNAH5 | c.2716A>T (p.Ser906Cys) c.2671A>T (p.Ser891Cys) n.2923A>T c.2824A>T (p.Ser942Cys) c.1729A>T (p.Ser577Cys) c.1318A>T (p.Ser440Cys) n.2841A>T | |
5 | g.13885991T>C | CA359196148 | DNAH5 | c.2716A>G (p.Ser906Gly) c.2671A>G (p.Ser891Gly) n.2923A>G c.2824A>G (p.Ser942Gly) c.1729A>G (p.Ser577Gly) c.1318A>G (p.Ser440Gly) n.2841A>G | |
5 | g.13885991T>G | CA359196150 | DNAH5 | c.2716A>C (p.Ser906Arg) c.2671A>C (p.Ser891Arg) n.2923A>C c.2824A>C (p.Ser942Arg) c.1729A>C (p.Ser577Arg) c.1318A>C (p.Ser440Arg) n.2841A>C | |
5 | g.13885992A>C | CA359196152 | DNAH5 | c.2715T>G (p.Asn905Lys) c.2670T>G (p.Asn890Lys) n.2922T>G c.2823T>G (p.Asn941Lys) c.1728T>G (p.Asn576Lys) c.1317T>G (p.Asn439Lys) n.2840T>G | |
5 | g.13885992A>G | CA443273626 | DNAH5 | c.2715T>C (p.Asn905=) c.2670T>C (p.Asn890=) n.2922T>C c.2823T>C (p.Asn941=) c.1728T>C (p.Asn576=) c.1317T>C (p.Asn439=) n.2840T>C | ClinVar dbSNP |
5 | g.13885992A>T | CA359196153 | DNAH5 | c.2715T>A (p.Asn905Lys) c.2670T>A (p.Asn890Lys) n.2922T>A c.2823T>A (p.Asn941Lys) c.1728T>A (p.Asn576Lys) c.1317T>A (p.Asn439Lys) n.2840T>A | |
5 | g.13885993T>A | CA359196155 | DNAH5 | c.2714A>T (p.Asn905Ile) c.2669A>T (p.Asn890Ile) n.2921A>T c.2822A>T (p.Asn941Ile) c.1727A>T (p.Asn576Ile) c.1316A>T (p.Asn439Ile) n.2839A>T | |
5 | g.13885993T>C | CA359196157 | DNAH5 | c.2714A>G (p.Asn905Ser) c.2669A>G (p.Asn890Ser) n.2921A>G c.2822A>G (p.Asn941Ser) c.1727A>G (p.Asn576Ser) c.1316A>G (p.Asn439Ser) n.2839A>G | |
5 | g.13885993T>G | CA359196159 | DNAH5 | c.2714A>C (p.Asn905Thr) c.2669A>C (p.Asn890Thr) n.2921A>C c.2822A>C (p.Asn941Thr) c.1727A>C (p.Asn576Thr) c.1316A>C (p.Asn439Thr) n.2839A>C | |
5 | g.13885994T>A | CA359196162 | DNAH5 | c.2713A>T (p.Asn905Tyr) c.2668A>T (p.Asn890Tyr) n.2920A>T c.2821A>T (p.Asn941Tyr) c.1726A>T (p.Asn576Tyr) c.1315A>T (p.Asn439Tyr) n.2838A>T | |
5 | g.13885994T>C | CA359196165 | DNAH5 | c.2713A>G (p.Asn905Asp) c.2668A>G (p.Asn890Asp) n.2920A>G c.2821A>G (p.Asn941Asp) c.1726A>G (p.Asn576Asp) c.1315A>G (p.Asn439Asp) n.2838A>G | |
5 | g.13885994T>G | CA359196163 | DNAH5 | c.2713A>C (p.Asn905His) c.2668A>C (p.Asn890His) n.2920A>C c.2821A>C (p.Asn941His) c.1726A>C (p.Asn576His) c.1315A>C (p.Asn439His) n.2838A>C | |
5 | g.13885995C>A | CA359196166 | DNAH5 | c.2712G>T (p.Glu904Asp) c.2667G>T (p.Glu889Asp) n.2919G>T c.2820G>T (p.Glu940Asp) c.1725G>T (p.Glu575Asp) c.1314G>T (p.Glu438Asp) n.2837G>T | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13885995C= | CA1528483799 | DNAH5 | c.2712G= (p.Glu904=) c.2667G= (p.Glu889=) n.2919G= c.2820G= (p.Glu940=) c.1725G= (p.Glu575=) c.1314G= (p.Glu438=) n.2837G= | |
5 | g.13885995C>G | CA359196168 | DNAH5 | c.2712G>C (p.Glu904Asp) c.2667G>C (p.Glu889Asp) n.2919G>C c.2820G>C (p.Glu940Asp) c.1725G>C (p.Glu575Asp) c.1314G>C (p.Glu438Asp) n.2837G>C | |
5 | g.13885995C>T | CA443273631 | DNAH5 | c.2712G>A (p.Glu904=) c.2667G>A (p.Glu889=) n.2919G>A c.2820G>A (p.Glu940=) c.1725G>A (p.Glu575=) c.1314G>A (p.Glu438=) n.2837G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13885996T>A | CA359196171 | DNAH5 | c.2711A>T (p.Glu904Val) c.2666A>T (p.Glu889Val) n.2918A>T c.2819A>T (p.Glu940Val) c.1724A>T (p.Glu575Val) c.1313A>T (p.Glu438Val) n.2836A>T | |
5 | g.13885996T>C | CA359196174 | DNAH5 | c.2711A>G (p.Glu904Gly) c.2666A>G (p.Glu889Gly) n.2918A>G c.2819A>G (p.Glu940Gly) c.1724A>G (p.Glu575Gly) c.1313A>G (p.Glu438Gly) n.2836A>G | gnomAD v4 |
5 | g.13885996T>G | CA359196176 | DNAH5 | c.2711A>C (p.Glu904Ala) c.2666A>C (p.Glu889Ala) n.2918A>C c.2819A>C (p.Glu940Ala) c.1724A>C (p.Glu575Ala) c.1313A>C (p.Glu438Ala) n.2836A>C | |
5 | g.13885997C>A | CA359196177 | DNAH5 | c.2710G>T (p.Glu904Ter) c.2665G>T (p.Glu889Ter) n.2917G>T c.2818G>T (p.Glu940Ter) c.1723G>T (p.Glu575Ter) c.1312G>T (p.Glu438Ter) n.2835G>T | ClinVar dbSNP gnomAD v4 |
5 | g.13885997C= | CA1528483800 | DNAH5 | c.2710G= (p.Glu904=) c.2665G= (p.Glu889=) n.2917G= c.2818G= (p.Glu940=) c.1723G= (p.Glu575=) c.1312G= (p.Glu438=) n.2835G= | |
5 | g.13885997C>G | CA359196179 | DNAH5 | c.2710G>C (p.Glu904Gln) c.2665G>C (p.Glu889Gln) n.2917G>C c.2818G>C (p.Glu940Gln) c.1723G>C (p.Glu575Gln) c.1312G>C (p.Glu438Gln) n.2835G>C | |
5 | g.13885997C>T | CA359196183 | DNAH5 | c.2710G>A (p.Glu904Lys) c.2665G>A (p.Glu889Lys) n.2917G>A c.2818G>A (p.Glu940Lys) c.1723G>A (p.Glu575Lys) c.1312G>A (p.Glu438Lys) n.2835G>A | COSMIC |
5 | g.13885998A>C | CA359196185 | DNAH5 | c.2709T>G (p.Asn903Lys) c.2664T>G (p.Asn888Lys) n.2916T>G c.2817T>G (p.Asn939Lys) c.1722T>G (p.Asn574Lys) c.1311T>G (p.Asn437Lys) n.2834T>G | gnomAD v4 |
5 | g.13885998A>G | CA443273636 | DNAH5 | c.2709T>C (p.Asn903=) c.2664T>C (p.Asn888=) n.2916T>C c.2817T>C (p.Asn939=) c.1722T>C (p.Asn574=) c.1311T>C (p.Asn437=) n.2834T>C | gnomAD v4 |
5 | g.13885998A>T | CA359196188 | DNAH5 | c.2709T>A (p.Asn903Lys) c.2664T>A (p.Asn888Lys) n.2916T>A c.2817T>A (p.Asn939Lys) c.1722T>A (p.Asn574Lys) c.1311T>A (p.Asn437Lys) n.2834T>A | |
5 | g.13885999T>A | CA359196190 | DNAH5 | c.2708A>T (p.Asn903Ile) c.2663A>T (p.Asn888Ile) n.2915A>T c.2816A>T (p.Asn939Ile) c.1721A>T (p.Asn574Ile) c.1310A>T (p.Asn437Ile) n.2833A>T | dbSNP |
5 | g.13885999T>C | CA359196192 | DNAH5 | c.2708A>G (p.Asn903Ser) c.2663A>G (p.Asn888Ser) n.2915A>G c.2816A>G (p.Asn939Ser) c.1721A>G (p.Asn574Ser) c.1310A>G (p.Asn437Ser) n.2833A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885999T>G | CA3204517 | DNAH5 | c.2708A>C (p.Asn903Thr) c.2663A>C (p.Asn888Thr) n.2915A>C c.2816A>C (p.Asn939Thr) c.1721A>C (p.Asn574Thr) c.1310A>C (p.Asn437Thr) n.2833A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13885999T= | CA1528483801 | DNAH5 | c.2708A= (p.Asn903=) c.2663A= (p.Asn888=) n.2915A= c.2816A= (p.Asn939=) c.1721A= (p.Asn574=) c.1310A= (p.Asn437=) n.2833A= | |
5 | g.13886000T>A | CA359196197 | DNAH5 | c.2707A>T (p.Asn903Tyr) c.2662A>T (p.Asn888Tyr) n.2914A>T c.2815A>T (p.Asn939Tyr) c.1720A>T (p.Asn574Tyr) c.1309A>T (p.Asn437Tyr) n.2832A>T | |
5 | g.13886000T>C | CA3204518 | DNAH5 | c.2707A>G (p.Asn903Asp) c.2662A>G (p.Asn888Asp) n.2914A>G c.2815A>G (p.Asn939Asp) c.1720A>G (p.Asn574Asp) c.1309A>G (p.Asn437Asp) n.2832A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13886000T>G | CA359196198 | DNAH5 | c.2707A>C (p.Asn903His) c.2662A>C (p.Asn888His) n.2914A>C c.2815A>C (p.Asn939His) c.1720A>C (p.Asn574His) c.1309A>C (p.Asn437His) n.2832A>C | |
5 | g.13886000T= | CA1528483802 | DNAH5 | c.2707A= (p.Asn903=) c.2662A= (p.Asn888=) n.2914A= c.2815A= (p.Asn939=) c.1720A= (p.Asn574=) c.1309A= (p.Asn437=) n.2832A= | |
5 | g.13886001G>A | CA3204519 | DNAH5 | c.2706C>T (p.Ser902=) c.2661C>T (p.Ser887=) n.2913C>T c.2814C>T (p.Ser938=) c.1719C>T (p.Ser573=) c.1308C>T (p.Ser436=) n.2831C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13886001G>C | CA443273640 | DNAH5 | c.2706C>G (p.Ser902=) c.2661C>G (p.Ser887=) n.2913C>G c.2814C>G (p.Ser938=) c.1719C>G (p.Ser573=) c.1308C>G (p.Ser436=) n.2831C>G | |
5 | g.13886001G= | CA1528483803 | DNAH5 | c.2706C= (p.Ser902=) c.2661C= (p.Ser887=) n.2913C= c.2814C= (p.Ser938=) c.1719C= (p.Ser573=) c.1308C= (p.Ser436=) n.2831C= | |
5 | g.13886001G>T | CA443273639 | DNAH5 | c.2706C>A (p.Ser902=) c.2661C>A (p.Ser887=) n.2913C>A c.2814C>A (p.Ser938=) c.1719C>A (p.Ser573=) c.1308C>A (p.Ser436=) n.2831C>A | ClinVar dbSNP gnomAD v4 |
5 | g.13886002G>A | CA359196200 | DNAH5 | c.2705C>T (p.Ser902Phe) c.2660C>T (p.Ser887Phe) n.2912C>T c.2813C>T (p.Ser938Phe) c.1718C>T (p.Ser573Phe) c.1307C>T (p.Ser436Phe) n.2830C>T | |
5 | g.13886002G>C | CA359196202 | DNAH5 | c.2705C>G (p.Ser902Cys) c.2660C>G (p.Ser887Cys) n.2912C>G c.2813C>G (p.Ser938Cys) c.1718C>G (p.Ser573Cys) c.1307C>G (p.Ser436Cys) n.2830C>G | |
5 | g.13886002G>T | CA359196204 | DNAH5 | c.2705C>A (p.Ser902Tyr) c.2660C>A (p.Ser887Tyr) n.2912C>A c.2813C>A (p.Ser938Tyr) c.1718C>A (p.Ser573Tyr) c.1307C>A (p.Ser436Tyr) n.2830C>A | |
5 | g.13886003A>C | CA359196208 | DNAH5 | c.2704T>G (p.Ser902Ala) c.2659T>G (p.Ser887Ala) n.2911T>G c.2812T>G (p.Ser938Ala) c.1717T>G (p.Ser573Ala) c.1306T>G (p.Ser436Ala) n.2829T>G | |
5 | g.13886003A>G | CA359196216 | DNAH5 | c.2704T>C (p.Ser902Pro) c.2659T>C (p.Ser887Pro) n.2911T>C c.2812T>C (p.Ser938Pro) c.1717T>C (p.Ser573Pro) c.1306T>C (p.Ser436Pro) n.2829T>C | |
5 | g.13886003A>T | CA359196210 | DNAH5 | c.2704T>A (p.Ser902Thr) c.2659T>A (p.Ser887Thr) n.2911T>A c.2812T>A (p.Ser938Thr) c.1717T>A (p.Ser573Thr) c.1306T>A (p.Ser436Thr) n.2829T>A | |
5 | g.13886004T>A | CA443273643 | DNAH5 | c.2703A>T (p.Ile901=) c.2658A>T (p.Ile886=) n.2910A>T c.2811A>T (p.Ile937=) c.1716A>T (p.Ile572=) c.1305A>T (p.Ile435=) n.2828A>T | ClinVar dbSNP |
5 | g.13886004T>C | CA359196219 | DNAH5 | c.2703A>G (p.Ile901Met) c.2658A>G (p.Ile886Met) n.2910A>G c.2811A>G (p.Ile937Met) c.1716A>G (p.Ile572Met) c.1305A>G (p.Ile435Met) n.2828A>G | |
5 | g.13886004T>G | CA443273646 | DNAH5 | c.2703A>C (p.Ile901=) c.2658A>C (p.Ile886=) n.2910A>C c.2811A>C (p.Ile937=) c.1716A>C (p.Ile572=) c.1305A>C (p.Ile435=) n.2828A>C | |
5 | g.13886004T= | CA1528483804 | DNAH5 | c.2703A= (p.Ile901=) c.2658A= (p.Ile886=) n.2910A= c.2811A= (p.Ile937=) c.1716A= (p.Ile572=) c.1305A= (p.Ile435=) n.2828A= | |
5 | g.13886005A= | CA1528483805 | DNAH5 | c.2702T= (p.Ile901=) c.2657T= (p.Ile886=) n.2909T= c.2810T= (p.Ile937=) c.1715T= (p.Ile572=) c.1304T= (p.Ile435=) n.2827T= | |
5 | g.13886005A>C | CA359196222 | DNAH5 | c.2702T>G (p.Ile901Arg) c.2657T>G (p.Ile886Arg) n.2909T>G c.2810T>G (p.Ile937Arg) c.1715T>G (p.Ile572Arg) c.1304T>G (p.Ile435Arg) n.2827T>G | |
5 | g.13886005A>G | CA359196228 | DNAH5 | c.2702T>C (p.Ile901Thr) c.2657T>C (p.Ile886Thr) n.2909T>C c.2810T>C (p.Ile937Thr) c.1715T>C (p.Ile572Thr) c.1304T>C (p.Ile435Thr) n.2827T>C | |
5 | g.13886005A>T | CA359196230 | DNAH5 | c.2702T>A (p.Ile901Lys) c.2657T>A (p.Ile886Lys) n.2909T>A c.2810T>A (p.Ile937Lys) c.1715T>A (p.Ile572Lys) c.1304T>A (p.Ile435Lys) n.2827T>A | |
5 | g.13886006T>A | CA359196239 | DNAH5 | c.2701A>T (p.Ile901Leu) c.2656A>T (p.Ile886Leu) n.2908A>T c.2809A>T (p.Ile937Leu) c.1714A>T (p.Ile572Leu) c.1303A>T (p.Ile435Leu) n.2826A>T | |
5 | g.13886006T>C | CA359196233 | DNAH5 | c.2701A>G (p.Ile901Val) c.2656A>G (p.Ile886Val) n.2908A>G c.2809A>G (p.Ile937Val) c.1714A>G (p.Ile572Val) c.1303A>G (p.Ile435Val) n.2826A>G | |
5 | g.13886006T>G | CA359196236 | DNAH5 | c.2701A>C (p.Ile901Leu) c.2656A>C (p.Ile886Leu) n.2908A>C c.2809A>C (p.Ile937Leu) c.1714A>C (p.Ile572Leu) c.1303A>C (p.Ile435Leu) n.2826A>C | |
5 | g.13886011dup | CA917418468 | DNAH5 | c.2701dup (p.Ile901AsnfsTer4) c.2656dup (p.Ile886AsnfsTer4) n.2908dup c.2809dup (p.Ile937AsnfsTer4) c.1714dup (p.Ile572AsnfsTer4) c.1303dup (p.Ile435AsnfsTer4) n.2826dup | dbSNP |
5 | g.13886007T>A | CA359196246 | DNAH5 | c.2700A>T (p.Lys900Asn) c.2655A>T (p.Lys885Asn) n.2907A>T c.2808A>T (p.Lys936Asn) c.1713A>T (p.Lys571Asn) c.1302A>T (p.Lys434Asn) n.2825A>T | |
5 | g.13886007T>C | CA443273648 | DNAH5 | c.2700A>G (p.Lys900=) c.2655A>G (p.Lys885=) n.2907A>G c.2808A>G (p.Lys936=) c.1713A>G (p.Lys571=) c.1302A>G (p.Lys434=) n.2825A>G | gnomAD v4 |
5 | g.13886007T>G | CA3204520 | DNAH5 | c.2700A>C (p.Lys900Asn) c.2655A>C (p.Lys885Asn) n.2907A>C c.2808A>C (p.Lys936Asn) c.1713A>C (p.Lys571Asn) c.1302A>C (p.Lys434Asn) n.2825A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13886007T= | CA1528483806 | DNAH5 | c.2700A= (p.Lys900=) c.2655A= (p.Lys885=) n.2907A= c.2808A= (p.Lys936=) c.1713A= (p.Lys571=) c.1302A= (p.Lys434=) n.2825A= | |
5 | g.13886008T>A | CA359196248 | DNAH5 | c.2699A>T (p.Lys900Ile) c.2654A>T (p.Lys885Ile) n.2906A>T c.2807A>T (p.Lys936Ile) c.1712A>T (p.Lys571Ile) c.1301A>T (p.Lys434Ile) n.2824A>T | COSMIC |
5 | g.13886008T>C | CA359196251 | DNAH5 | c.2699A>G (p.Lys900Arg) c.2654A>G (p.Lys885Arg) n.2906A>G c.2807A>G (p.Lys936Arg) c.1712A>G (p.Lys571Arg) c.1301A>G (p.Lys434Arg) n.2824A>G | |
5 | g.13886008T>G | CA359196252 | DNAH5 | c.2699A>C (p.Lys900Thr) c.2654A>C (p.Lys885Thr) n.2906A>C c.2807A>C (p.Lys936Thr) c.1712A>C (p.Lys571Thr) c.1301A>C (p.Lys434Thr) n.2824A>C | |
5 | g.13886009T>A | CA359196255 | DNAH5 | c.2698A>T (p.Lys900Ter) c.2653A>T (p.Lys885Ter) n.2905A>T c.2806A>T (p.Lys936Ter) c.1711A>T (p.Lys571Ter) c.1300A>T (p.Lys434Ter) n.2823A>T | COSMIC |
5 | g.13886009T>C | CA359196257 | DNAH5 | c.2698A>G (p.Lys900Glu) c.2653A>G (p.Lys885Glu) n.2905A>G c.2806A>G (p.Lys936Glu) c.1711A>G (p.Lys571Glu) c.1300A>G (p.Lys434Glu) n.2823A>G | |
5 | g.13886009T>G | CA359196259 | DNAH5 | c.2698A>C (p.Lys900Gln) c.2653A>C (p.Lys885Gln) n.2905A>C c.2806A>C (p.Lys936Gln) c.1711A>C (p.Lys571Gln) c.1300A>C (p.Lys434Gln) n.2823A>C | |
5 | g.13886010T>A | CA359196260 | DNAH5 | c.2697A>T (p.Glu899Asp) c.2652A>T (p.Glu884Asp) n.2904A>T c.2805A>T (p.Glu935Asp) c.1710A>T (p.Glu570Asp) c.1299A>T (p.Glu433Asp) n.2822A>T | |
5 | g.13886010T>C | CA443273654 | DNAH5 | c.2697A>G (p.Glu899=) c.2652A>G (p.Glu884=) n.2904A>G c.2805A>G (p.Glu935=) c.1710A>G (p.Glu570=) c.1299A>G (p.Glu433=) n.2822A>G | |
5 | g.13886010T>G | CA359196261 | DNAH5 | c.2697A>C (p.Glu899Asp) c.2652A>C (p.Glu884Asp) n.2904A>C c.2805A>C (p.Glu935Asp) c.1710A>C (p.Glu570Asp) c.1299A>C (p.Glu433Asp) n.2822A>C | |
5 | g.13886011T>A | CA359196262 | DNAH5 | c.2696A>T (p.Glu899Val) c.2651A>T (p.Glu884Val) n.2903A>T c.2804A>T (p.Glu935Val) c.1709A>T (p.Glu570Val) c.1298A>T (p.Glu433Val) n.2821A>T | |
5 | g.13886011T>C | CA359196264 | DNAH5 | c.2696A>G (p.Glu899Gly) c.2651A>G (p.Glu884Gly) n.2903A>G c.2804A>G (p.Glu935Gly) c.1709A>G (p.Glu570Gly) c.1298A>G (p.Glu433Gly) n.2821A>G | |
5 | g.13886011T>G | CA359196265 | DNAH5 | c.2696A>C (p.Glu899Ala) c.2651A>C (p.Glu884Ala) n.2903A>C c.2804A>C (p.Glu935Ala) c.1709A>C (p.Glu570Ala) c.1298A>C (p.Glu433Ala) n.2821A>C | gnomAD v4 |
5 | g.13886012C>A | CA359196267 | DNAH5 | c.2695G>T (p.Glu899Ter) c.2650G>T (p.Glu884Ter) n.2902G>T c.2803G>T (p.Glu935Ter) c.1708G>T (p.Glu570Ter) c.1297G>T (p.Glu433Ter) n.2820G>T | |
5 | g.13886012C>G | CA359196272 | DNAH5 | c.2695G>C (p.Glu899Gln) c.2650G>C (p.Glu884Gln) n.2902G>C c.2803G>C (p.Glu935Gln) c.1708G>C (p.Glu570Gln) c.1297G>C (p.Glu433Gln) n.2820G>C | |
5 | g.13886012C>T | CA359196270 | DNAH5 | c.2695G>A (p.Glu899Lys) c.2650G>A (p.Glu884Lys) n.2902G>A c.2803G>A (p.Glu935Lys) c.1708G>A (p.Glu570Lys) c.1297G>A (p.Glu433Lys) n.2820G>A | gnomAD v3 gnomAD v4 |
5 | g.13886013A= | CA1528483807 | DNAH5 | c.2694T= (p.Ser898=) c.2649T= (p.Ser883=) n.2901T= c.2802T= (p.Ser934=) c.1707T= (p.Ser569=) c.1296T= (p.Ser432=) n.2819T= | |
5 | g.13886013A>C | CA359196275 | DNAH5 | c.2694T>G (p.Ser898Arg) c.2649T>G (p.Ser883Arg) n.2901T>G c.2802T>G (p.Ser934Arg) c.1707T>G (p.Ser569Arg) c.1296T>G (p.Ser432Arg) n.2819T>G | |
5 | g.13886013A>G | CA443273658 | DNAH5 | c.2694T>C (p.Ser898=) c.2649T>C (p.Ser883=) n.2901T>C c.2802T>C (p.Ser934=) c.1707T>C (p.Ser569=) c.1296T>C (p.Ser432=) n.2819T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886013A>T | CA359196276 | DNAH5 | c.2694T>A (p.Ser898Arg) c.2649T>A (p.Ser883Arg) n.2901T>A c.2802T>A (p.Ser934Arg) c.1707T>A (p.Ser569Arg) c.1296T>A (p.Ser432Arg) n.2819T>A | gnomAD v3 gnomAD v4 |
5 | g.13886014C>A | CA359196279 | DNAH5 | c.2693G>T (p.Ser898Ile) c.2648G>T (p.Ser883Ile) n.2900G>T c.2801G>T (p.Ser934Ile) c.1706G>T (p.Ser569Ile) c.1295G>T (p.Ser432Ile) n.2818G>T | |
5 | g.13886014C= | CA1528483808 | DNAH5 | c.2693G= (p.Ser898=) c.2648G= (p.Ser883=) n.2900G= c.2801G= (p.Ser934=) c.1706G= (p.Ser569=) c.1295G= (p.Ser432=) n.2818G= | |
5 | g.13886014C>G | CA359196282 | DNAH5 | c.2693G>C (p.Ser898Thr) c.2648G>C (p.Ser883Thr) n.2900G>C c.2801G>C (p.Ser934Thr) c.1706G>C (p.Ser569Thr) c.1295G>C (p.Ser432Thr) n.2818G>C | COSMIC |
5 | g.13886014C>T | CA359196283 | DNAH5 | c.2693G>A (p.Ser898Asn) c.2648G>A (p.Ser883Asn) n.2900G>A c.2801G>A (p.Ser934Asn) c.1706G>A (p.Ser569Asn) c.1295G>A (p.Ser432Asn) n.2818G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886015T>A | CA359196290 | DNAH5 | c.2692A>T (p.Ser898Cys) c.2647A>T (p.Ser883Cys) n.2899A>T c.2800A>T (p.Ser934Cys) c.1705A>T (p.Ser569Cys) c.1294A>T (p.Ser432Cys) n.2817A>T | |
5 | g.13886015T>C | CA359196289 | DNAH5 | c.2692A>G (p.Ser898Gly) c.2647A>G (p.Ser883Gly) n.2899A>G c.2800A>G (p.Ser934Gly) c.1705A>G (p.Ser569Gly) c.1294A>G (p.Ser432Gly) n.2817A>G | dbSNP gnomAD v2 gnomAD v4 |
5 | g.13886015T>G | CA359196286 | DNAH5 | c.2692A>C (p.Ser898Arg) c.2647A>C (p.Ser883Arg) n.2899A>C c.2800A>C (p.Ser934Arg) c.1705A>C (p.Ser569Arg) c.1294A>C (p.Ser432Arg) n.2817A>C | |
5 | g.13886015T= | CA1528483809 | DNAH5 | c.2692A= (p.Ser898=) c.2647A= (p.Ser883=) n.2899A= c.2800A= (p.Ser934=) c.1705A= (p.Ser569=) c.1294A= (p.Ser432=) n.2817A= | |
5 | g.13886016T>A | CA359196293 | DNAH5 | c.2691A>T (p.Glu897Asp) c.2646A>T (p.Glu882Asp) n.2898A>T c.2799A>T (p.Glu933Asp) c.1704A>T (p.Glu568Asp) c.1293A>T (p.Glu431Asp) n.2816A>T | |
5 | g.13886016T>C | CA3204521 | DNAH5 | c.2691A>G (p.Glu897=) c.2646A>G (p.Glu882=) n.2898A>G c.2799A>G (p.Glu933=) c.1704A>G (p.Glu568=) c.1293A>G (p.Glu431=) n.2816A>G | dbSNP ExAC gnomAD v2 |
5 | g.13886016T>G | CA3204522 | DNAH5 | c.2691A>C (p.Glu897Asp) c.2646A>C (p.Glu882Asp) n.2898A>C c.2799A>C (p.Glu933Asp) c.1704A>C (p.Glu568Asp) c.1293A>C (p.Glu431Asp) n.2816A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.13886016T= | CA1528483810 | DNAH5 | c.2691A= (p.Glu897=) c.2646A= (p.Glu882=) n.2898A= c.2799A= (p.Glu933=) c.1704A= (p.Glu568=) c.1293A= (p.Glu431=) n.2816A= | |
5 | g.13886017T>A | CA359196298 | DNAH5 | c.2690A>T (p.Glu897Val) c.2645A>T (p.Glu882Val) n.2897A>T c.2798A>T (p.Glu933Val) c.1703A>T (p.Glu568Val) c.1292A>T (p.Glu431Val) n.2815A>T | |
5 | g.13886017T>C | CA359196300 | DNAH5 | c.2690A>G (p.Glu897Gly) c.2645A>G (p.Glu882Gly) n.2897A>G c.2798A>G (p.Glu933Gly) c.1703A>G (p.Glu568Gly) c.1292A>G (p.Glu431Gly) n.2815A>G | gnomAD v4 |
5 | g.13886017T>G | CA359196302 | DNAH5 | c.2690A>C (p.Glu897Ala) c.2645A>C (p.Glu882Ala) n.2897A>C c.2798A>C (p.Glu933Ala) c.1703A>C (p.Glu568Ala) c.1292A>C (p.Glu431Ala) n.2815A>C | |
5 | g.13886018C>A | CA359196304 | DNAH5 | c.2689G>T (p.Glu897Ter) c.2644G>T (p.Glu882Ter) n.2896G>T c.2797G>T (p.Glu933Ter) c.1702G>T (p.Glu568Ter) c.1291G>T (p.Glu431Ter) n.2814G>T | |
5 | g.13886018C>G | CA359196309 | DNAH5 | c.2689G>C (p.Glu897Gln) c.2644G>C (p.Glu882Gln) n.2896G>C c.2797G>C (p.Glu933Gln) c.1702G>C (p.Glu568Gln) c.1291G>C (p.Glu431Gln) n.2814G>C | |
5 | g.13886018C>T | CA359196307 | DNAH5 | c.2689G>A (p.Glu897Lys) c.2644G>A (p.Glu882Lys) n.2896G>A c.2797G>A (p.Glu933Lys) c.1702G>A (p.Glu568Lys) c.1291G>A (p.Glu431Lys) n.2814G>A | gnomAD v3 gnomAD v4 |
5 | g.13886018_13886021dup | CA2578270979 | DNAH5 | c.2686_2689dup (p.Glu897GlyfsTer4) c.2641_2644dup (p.Glu882GlyfsTer4) n.2893_2896dup c.2794_2797dup (p.Glu933GlyfsTer4) c.1699_1702dup (p.Glu568GlyfsTer4) c.1288_1291dup (p.Glu431GlyfsTer4) n.2811_2814dup | |
5 | g.13886019T>A | CA359196312 | DNAH5 | c.2688A>T (p.Glu896Asp) c.2643A>T (p.Glu881Asp) n.2895A>T c.2796A>T (p.Glu932Asp) c.1701A>T (p.Glu567Asp) c.1290A>T (p.Glu430Asp) n.2813A>T | |
5 | g.13886019T>C | CA443273665 | DNAH5 | c.2688A>G (p.Glu896=) c.2643A>G (p.Glu881=) n.2895A>G c.2796A>G (p.Glu932=) c.1701A>G (p.Glu567=) c.1290A>G (p.Glu430=) n.2813A>G | |
5 | g.13886019T>G | CA359196315 | DNAH5 | c.2688A>C (p.Glu896Asp) c.2643A>C (p.Glu881Asp) n.2895A>C c.2796A>C (p.Glu932Asp) c.1701A>C (p.Glu567Asp) c.1290A>C (p.Glu430Asp) n.2813A>C | |
5 | g.13886020T>A | CA359196318 | DNAH5 | c.2687A>T (p.Glu896Val) c.2642A>T (p.Glu881Val) n.2894A>T c.2795A>T (p.Glu932Val) c.1700A>T (p.Glu567Val) c.1289A>T (p.Glu430Val) n.2812A>T | |
5 | g.13886020T>C | CA359196320 | DNAH5 | c.2687A>G (p.Glu896Gly) c.2642A>G (p.Glu881Gly) n.2894A>G c.2795A>G (p.Glu932Gly) c.1700A>G (p.Glu567Gly) c.1289A>G (p.Glu430Gly) n.2812A>G | |
5 | g.13886020T>G | CA359196321 | DNAH5 | c.2687A>C (p.Glu896Ala) c.2642A>C (p.Glu881Ala) n.2894A>C c.2795A>C (p.Glu932Ala) c.1700A>C (p.Glu567Ala) c.1289A>C (p.Glu430Ala) n.2812A>C | |
5 | g.13886021C>A | CA359196324 | DNAH5 | c.2686G>T (p.Glu896Ter) c.2641G>T (p.Glu881Ter) n.2893G>T c.2794G>T (p.Glu932Ter) c.1699G>T (p.Glu567Ter) c.1288G>T (p.Glu430Ter) n.2811G>T | |
5 | g.13886021C= | CA1528483811 | DNAH5 | c.2686G= (p.Glu896=) c.2641G= (p.Glu881=) n.2893G= c.2794G= (p.Glu932=) c.1699G= (p.Glu567=) c.1288G= (p.Glu430=) n.2811G= | |
5 | g.13886021C>G | CA359196326 | DNAH5 | c.2686G>C (p.Glu896Gln) c.2641G>C (p.Glu881Gln) n.2893G>C c.2794G>C (p.Glu932Gln) c.1699G>C (p.Glu567Gln) c.1288G>C (p.Glu430Gln) n.2811G>C | gnomAD v4 |
5 | g.13886021C>T | CA3204523 | DNAH5 | c.2686G>A (p.Glu896Lys) c.2641G>A (p.Glu881Lys) n.2893G>A c.2794G>A (p.Glu932Lys) c.1699G>A (p.Glu567Lys) c.1288G>A (p.Glu430Lys) n.2811G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.13886022T>A | CA359196329 | DNAH5 | c.2685A>T (p.Glu895Asp) c.2640A>T (p.Glu880Asp) n.2892A>T c.2793A>T (p.Glu931Asp) c.1698A>T (p.Glu566Asp) c.1287A>T (p.Glu429Asp) n.2810A>T | |
5 | g.13886022T>C | CA443273670 | DNAH5 | c.2685A>G (p.Glu895=) c.2640A>G (p.Glu880=) n.2892A>G c.2793A>G (p.Glu931=) c.1698A>G (p.Glu566=) c.1287A>G (p.Glu429=) n.2810A>G | dbSNP |
5 | g.13886022T>G | CA359196331 | DNAH5 | c.2685A>C (p.Glu895Asp) c.2640A>C (p.Glu880Asp) n.2892A>C c.2793A>C (p.Glu931Asp) c.1698A>C (p.Glu566Asp) c.1287A>C (p.Glu429Asp) n.2810A>C | |
5 | g.13886022T= | CA1528483812 | DNAH5 | c.2685A= (p.Glu895=) c.2640A= (p.Glu880=) n.2892A= c.2793A= (p.Glu931=) c.1698A= (p.Glu566=) c.1287A= (p.Glu429=) n.2810A= | |
5 | g.13886023T>A | CA359196334 | DNAH5 | c.2684A>T (p.Glu895Val) c.2639A>T (p.Glu880Val) n.2891A>T c.2792A>T (p.Glu931Val) c.1697A>T (p.Glu566Val) c.1286A>T (p.Glu429Val) n.2809A>T | |
5 | g.13886023T>C | CA359196339 | DNAH5 | c.2684A>G (p.Glu895Gly) c.2639A>G (p.Glu880Gly) n.2891A>G c.2792A>G (p.Glu931Gly) c.1697A>G (p.Glu566Gly) c.1286A>G (p.Glu429Gly) n.2809A>G | |
5 | g.13886023T>G | CA359196337 | DNAH5 | c.2684A>C (p.Glu895Ala) c.2639A>C (p.Glu880Ala) n.2891A>C c.2792A>C (p.Glu931Ala) c.1697A>C (p.Glu566Ala) c.1286A>C (p.Glu429Ala) n.2809A>C | gnomAD v4 |
5 | g.13886024C>A | CA359196343 | DNAH5 | c.2683G>T (p.Glu895Ter) c.2638G>T (p.Glu880Ter) n.2890G>T c.2791G>T (p.Glu931Ter) c.1696G>T (p.Glu566Ter) c.1285G>T (p.Glu429Ter) n.2808G>T | |
5 | g.13886024C= | CA1528483813 | DNAH5 | c.2683G= (p.Glu895=) c.2638G= (p.Glu880=) n.2890G= c.2791G= (p.Glu931=) c.1696G= (p.Glu566=) c.1285G= (p.Glu429=) n.2808G= | |
5 | g.13886024C>G | CA359196346 | DNAH5 | c.2683G>C (p.Glu895Gln) c.2638G>C (p.Glu880Gln) n.2890G>C c.2791G>C (p.Glu931Gln) c.1696G>C (p.Glu566Gln) c.1285G>C (p.Glu429Gln) n.2808G>C | |
5 | g.13886024C>T | CA175805 | DNAH5 | c.2683G>A (p.Glu895Lys) c.2638G>A (p.Glu880Lys) n.2890G>A c.2791G>A (p.Glu931Lys) c.1696G>A (p.Glu566Lys) c.1285G>A (p.Glu429Lys) n.2808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.13886025A>C | CA443273672 | DNAH5 | c.2682T>G (p.Ser894=) c.2637T>G (p.Ser879=) n.2889T>G c.2790T>G (p.Ser930=) c.1695T>G (p.Ser565=) c.1284T>G (p.Ser428=) n.2807T>G | |
5 | g.13886025A>G | CA443273674 | DNAH5 | c.2682T>C (p.Ser894=) c.2637T>C (p.Ser879=) n.2889T>C c.2790T>C (p.Ser930=) c.1695T>C (p.Ser565=) c.1284T>C (p.Ser428=) n.2807T>C | |
5 | g.13886025A>T | CA443273675 | DNAH5 | c.2682T>A (p.Ser894=) c.2637T>A (p.Ser879=) n.2889T>A c.2790T>A (p.Ser930=) c.1695T>A (p.Ser565=) c.1284T>A (p.Ser428=) n.2807T>A | |
5 | g.13886026G>A | CA359196349 | DNAH5 | c.2681C>T (p.Ser894Phe) c.2636C>T (p.Ser879Phe) n.2888C>T c.2789C>T (p.Ser930Phe) c.1694C>T (p.Ser565Phe) c.1283C>T (p.Ser428Phe) n.2806C>T | |
5 | g.13886026G>C | CA359196353 | DNAH5 | c.2681C>G (p.Ser894Cys) c.2636C>G (p.Ser879Cys) n.2888C>G c.2789C>G (p.Ser930Cys) c.1694C>G (p.Ser565Cys) c.1283C>G (p.Ser428Cys) n.2806C>G | gnomAD v4 |
5 | g.13886026G>T | CA359196352 | DNAH5 | c.2681C>A (p.Ser894Tyr) c.2636C>A (p.Ser879Tyr) n.2888C>A c.2789C>A (p.Ser930Tyr) c.1694C>A (p.Ser565Tyr) c.1283C>A (p.Ser428Tyr) n.2806C>A | |
5 | g.13886027A>C | CA359196357 | DNAH5 | c.2680T>G (p.Ser894Ala) c.2635T>G (p.Ser879Ala) n.2887T>G c.2788T>G (p.Ser930Ala) c.1693T>G (p.Ser565Ala) c.1282T>G (p.Ser428Ala) n.2805T>G | |
5 | g.13886027A>G | CA359196360 | DNAH5 | c.2680T>C (p.Ser894Pro) c.2635T>C (p.Ser879Pro) n.2887T>C c.2788T>C (p.Ser930Pro) c.1693T>C (p.Ser565Pro) c.1282T>C (p.Ser428Pro) n.2805T>C | |
5 | g.13886027A>T | CA359196358 | DNAH5 | c.2680T>A (p.Ser894Thr) c.2635T>A (p.Ser879Thr) n.2887T>A c.2788T>A (p.Ser930Thr) c.1693T>A (p.Ser565Thr) c.1282T>A (p.Ser428Thr) n.2805T>A | |
5 | g.13886028T>A | CA359196362 | DNAH5 | c.2679A>T (p.Leu893Phe) c.2634A>T (p.Leu878Phe) n.2886A>T c.2787A>T (p.Leu929Phe) c.1692A>T (p.Leu564Phe) c.1281A>T (p.Leu427Phe) n.2804A>T | |
5 | g.13886028T>C | CA113933797 | DNAH5 | c.2679A>G (p.Leu893=) c.2634A>G (p.Leu878=) n.2886A>G c.2787A>G (p.Leu929=) c.1692A>G (p.Leu564=) c.1281A>G (p.Leu427=) n.2804A>G | dbSNP |
5 | g.13886028T>G | CA359196364 | DNAH5 | c.2679A>C (p.Leu893Phe) c.2634A>C (p.Leu878Phe) n.2886A>C c.2787A>C (p.Leu929Phe) c.1692A>C (p.Leu564Phe) c.1281A>C (p.Leu427Phe) n.2804A>C | |
5 | g.13886028T= | CA1528483814 | DNAH5 | c.2679A= (p.Leu893=) c.2634A= (p.Leu878=) n.2886A= c.2787A= (p.Leu929=) c.1692A= (p.Leu564=) c.1281A= (p.Leu427=) n.2804A= | |
5 | g.13886029A>C | CA359196368 | DNAH5 | c.2678T>G (p.Leu893Ter) c.2633T>G (p.Leu878Ter) n.2885T>G c.2786T>G (p.Leu929Ter) c.1691T>G (p.Leu564Ter) c.1280T>G (p.Leu427Ter) n.2803T>G | |
5 | g.13886029A>G | CA359196370 | DNAH5 | c.2678T>C (p.Leu893Ser) c.2633T>C (p.Leu878Ser) n.2885T>C c.2786T>C (p.Leu929Ser) c.1691T>C (p.Leu564Ser) c.1280T>C (p.Leu427Ser) n.2803T>C | |
5 | g.13886029A>T | CA359196372 | DNAH5 | c.2678T>A (p.Leu893Ter) c.2633T>A (p.Leu878Ter) n.2885T>A c.2786T>A (p.Leu929Ter) c.1691T>A (p.Leu564Ter) c.1280T>A (p.Leu427Ter) n.2803T>A | |
5 | g.13886030A= | CA1528483815 | DNAH5 | c.2677T= (p.Leu893=) c.2632T= (p.Leu878=) n.2884T= c.2785T= (p.Leu929=) c.1690T= (p.Leu564=) c.1279T= (p.Leu427=) n.2802T= | |
5 | g.13886030A>C | CA359196373 | DNAH5 | c.2677T>G (p.Leu893Val) c.2632T>G (p.Leu878Val) n.2884T>G c.2785T>G (p.Leu929Val) c.1690T>G (p.Leu564Val) c.1279T>G (p.Leu427Val) n.2802T>G | |
5 | g.13886030A>G | CA443273680 | DNAH5 | c.2677T>C (p.Leu893=) c.2632T>C (p.Leu878=) n.2884T>C c.2785T>C (p.Leu929=) c.1690T>C (p.Leu564=) c.1279T>C (p.Leu427=) n.2802T>C | ClinVar dbSNP gnomAD v4 |
5 | g.13886030A>T | CA359196374 | DNAH5 | c.2677T>A (p.Leu893Ile) c.2632T>A (p.Leu878Ile) n.2884T>A c.2785T>A (p.Leu929Ile) c.1690T>A (p.Leu564Ile) c.1279T>A (p.Leu427Ile) n.2802T>A | |
5 | g.13886031A>C | CA443273685 | DNAH5 | c.2676T>G (p.Val892=) c.2631T>G (p.Val877=) n.2883T>G c.2784T>G (p.Val928=) c.1689T>G (p.Val563=) c.1278T>G (p.Val426=) n.2801T>G | |
5 | g.13886031A>G | CA443273683 | DNAH5 | c.2676T>C (p.Val892=) c.2631T>C (p.Val877=) n.2883T>C c.2784T>C (p.Val928=) c.1689T>C (p.Val563=) c.1278T>C (p.Val426=) n.2801T>C | |
5 | g.13886031A>T | CA443273684 | DNAH5 | c.2676T>A (p.Val892=) c.2631T>A (p.Val877=) n.2883T>A c.2784T>A (p.Val928=) c.1689T>A (p.Val563=) c.1278T>A (p.Val426=) n.2801T>A | |
5 | g.13886032A>C | CA359196378 | DNAH5 | c.2675T>G (p.Val892Gly) c.2630T>G (p.Val877Gly) n.2882T>G c.2783T>G (p.Val928Gly) c.1688T>G (p.Val563Gly) c.1277T>G (p.Val426Gly) n.2800T>G | |
5 | g.13886032A>G | CA359196375 | DNAH5 | c.2675T>C (p.Val892Ala) c.2630T>C (p.Val877Ala) n.2882T>C c.2783T>C (p.Val928Ala) c.1688T>C (p.Val563Ala) c.1277T>C (p.Val426Ala) n.2800T>C | COSMIC |
5 | g.13886032A>T | CA359196376 | DNAH5 | c.2675T>A (p.Val892Asp) c.2630T>A (p.Val877Asp) n.2882T>A c.2783T>A (p.Val928Asp) c.1688T>A (p.Val563Asp) c.1277T>A (p.Val426Asp) n.2800T>A | |
5 | g.13886032_13886033delinsAC | CA1528483816 | DNAH5 | c.2674_2675delinsGT (p.Val892=) c.2629_2630delinsGT (p.Val877=) n.2881_2882delinsGT c.2782_2783delinsGT (p.Val928=) c.1687_1688delinsGT (p.Val563=) c.1276_1277delinsGT (p.Val426=) n.2799_2800delinsGT | |
5 | g.13886033del | CA1073400302 | DNAH5 | c.2674del (p.Val892PhefsTer?) c.2629del (p.Val877PhefsTer?) n.2881del c.2782del (p.Val928PhefsTer?) c.1687del (p.Val563PhefsTer?) c.1276del (p.Val426PhefsTer?) n.2799del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886033C>A | CA359196381 | DNAH5 | c.2674G>T (p.Val892Phe) c.2629G>T (p.Val877Phe) n.2881G>T c.2782G>T (p.Val928Phe) c.1687G>T (p.Val563Phe) c.1276G>T (p.Val426Phe) n.2799G>T | gnomAD v4 |
5 | g.13886033C>G | CA359196382 | DNAH5 | c.2674G>C (p.Val892Leu) c.2629G>C (p.Val877Leu) n.2881G>C c.2782G>C (p.Val928Leu) c.1687G>C (p.Val563Leu) c.1276G>C (p.Val426Leu) n.2799G>C | gnomAD v4 |
5 | g.13886033C>T | CA359196385 | DNAH5 | c.2674G>A (p.Val892Ile) c.2629G>A (p.Val877Ile) n.2881G>A c.2782G>A (p.Val928Ile) c.1687G>A (p.Val563Ile) c.1276G>A (p.Val426Ile) n.2799G>A | |
5 | g.13886034T>A | CA359196386 | DNAH5 | c.2673A>T (p.Glu891Asp) c.2628A>T (p.Glu876Asp) n.2880A>T c.2781A>T (p.Glu927Asp) c.1686A>T (p.Glu562Asp) c.1275A>T (p.Glu425Asp) n.2798A>T | |
5 | g.13886034T>C | CA443273687 | DNAH5 | c.2673A>G (p.Glu891=) c.2628A>G (p.Glu876=) n.2880A>G c.2781A>G (p.Glu927=) c.1686A>G (p.Glu562=) c.1275A>G (p.Glu425=) n.2798A>G | ClinVar dbSNP |
5 | g.13886034T>G | CA359196389 | DNAH5 | c.2673A>C (p.Glu891Asp) c.2628A>C (p.Glu876Asp) n.2880A>C c.2781A>C (p.Glu927Asp) c.1686A>C (p.Glu562Asp) c.1275A>C (p.Glu425Asp) n.2798A>C | |
5 | g.13886034T= | CA1528483817 | DNAH5 | c.2673A= (p.Glu891=) c.2628A= (p.Glu876=) n.2880A= c.2781A= (p.Glu927=) c.1686A= (p.Glu562=) c.1275A= (p.Glu425=) n.2798A= | |
5 | g.13886035T>A | CA359196393 | DNAH5 | c.2672A>T (p.Glu891Val) c.2627A>T (p.Glu876Val) n.2879A>T c.2780A>T (p.Glu927Val) c.1685A>T (p.Glu562Val) c.1274A>T (p.Glu425Val) n.2797A>T | |
5 | g.13886035T>C | CA359196397 | DNAH5 | c.2672A>G (p.Glu891Gly) c.2627A>G (p.Glu876Gly) n.2879A>G c.2780A>G (p.Glu927Gly) c.1685A>G (p.Glu562Gly) c.1274A>G (p.Glu425Gly) n.2797A>G | |
5 | g.13886035T>G | CA359196394 | DNAH5 | c.2672A>C (p.Glu891Ala) c.2627A>C (p.Glu876Ala) n.2879A>C c.2780A>C (p.Glu927Ala) c.1685A>C (p.Glu562Ala) c.1274A>C (p.Glu425Ala) n.2797A>C | |
5 | g.13886036C>A | CA359196401 | DNAH5 | c.2671G>T (p.Glu891Ter) c.2626G>T (p.Glu876Ter) n.2878G>T c.2779G>T (p.Glu927Ter) c.1684G>T (p.Glu562Ter) c.1273G>T (p.Glu425Ter) n.2796G>T | |
5 | g.13886036C= | CA1528483818 | DNAH5 | c.2671G= (p.Glu891=) c.2626G= (p.Glu876=) n.2878G= c.2779G= (p.Glu927=) c.1684G= (p.Glu562=) c.1273G= (p.Glu425=) n.2796G= | |
5 | g.13886036C>G | CA359196403 | DNAH5 | c.2671G>C (p.Glu891Gln) c.2626G>C (p.Glu876Gln) n.2878G>C c.2779G>C (p.Glu927Gln) c.1684G>C (p.Glu562Gln) c.1273G>C (p.Glu425Gln) n.2796G>C | |
5 | g.13886036C>T | CA359196406 | DNAH5 | c.2671G>A (p.Glu891Lys) c.2626G>A (p.Glu876Lys) n.2878G>A c.2779G>A (p.Glu927Lys) c.1684G>A (p.Glu562Lys) c.1273G>A (p.Glu425Lys) n.2796G>A | dbSNP gnomAD v4 COSMIC |
5 | g.13886037C>A | CA443273690 | DNAH5 | c.2670G>T (p.Val890=) c.2625G>T (p.Val875=) n.2877G>T c.2778G>T (p.Val926=) c.1683G>T (p.Val561=) c.1272G>T (p.Val424=) n.2795G>T | |
5 | g.13886037C= | CA1528483819 | DNAH5 | c.2670G= (p.Val890=) c.2625G= (p.Val875=) n.2877G= c.2778G= (p.Val926=) c.1683G= (p.Val561=) c.1272G= (p.Val424=) n.2795G= | |
5 | g.13886037C>G | CA443273689 | DNAH5 | c.2670G>C (p.Val890=) c.2625G>C (p.Val875=) n.2877G>C c.2778G>C (p.Val926=) c.1683G>C (p.Val561=) c.1272G>C (p.Val424=) n.2795G>C | |
5 | g.13886037C>T | CA443273691 | DNAH5 | c.2670G>A (p.Val890=) c.2625G>A (p.Val875=) n.2877G>A c.2778G>A (p.Val926=) c.1683G>A (p.Val561=) c.1272G>A (p.Val424=) n.2795G>A | dbSNP gnomAD v3 gnomAD v4 |
5 | g.13886038A>C | CA359196407 | DNAH5 | c.2669T>G (p.Val890Gly) c.2624T>G (p.Val875Gly) n.2876T>G c.2777T>G (p.Val926Gly) c.1682T>G (p.Val561Gly) c.1271T>G (p.Val424Gly) n.2794T>G | |
5 | g.13886038A>G | CA359196409 | DNAH5 | c.2669T>C (p.Val890Ala) c.2624T>C (p.Val875Ala) n.2876T>C c.2777T>C (p.Val926Ala) c.1682T>C (p.Val561Ala) c.1271T>C (p.Val424Ala) n.2794T>C | |
5 | g.13886038A>T | CA359196411 | DNAH5 | c.2669T>A (p.Val890Glu) c.2624T>A (p.Val875Glu) n.2876T>A c.2777T>A (p.Val926Glu) c.1682T>A (p.Val561Glu) c.1271T>A (p.Val424Glu) n.2794T>A | |
5 | g.13886039C>A | CA359196414 | DNAH5 | c.2668G>T (p.Val890Leu) c.2623G>T (p.Val875Leu) n.2875G>T c.2776G>T (p.Val926Leu) c.1681G>T (p.Val561Leu) c.1270G>T (p.Val424Leu) n.2793G>T | |
5 | g.13886039C>G | CA359196416 | DNAH5 | c.2668G>C (p.Val890Leu) c.2623G>C (p.Val875Leu) n.2875G>C c.2776G>C (p.Val926Leu) c.1681G>C (p.Val561Leu) c.1270G>C (p.Val424Leu) n.2793G>C | |
5 | g.13886039C>T | CA359196418 | DNAH5 | c.2668G>A (p.Val890Met) c.2623G>A (p.Val875Met) n.2875G>A c.2776G>A (p.Val926Met) c.1681G>A (p.Val561Met) c.1270G>A (p.Val424Met) n.2793G>A | |
5 | g.13886040A>C | CA359196420 | DNAH5 | c.2667T>G (p.Asp889Glu) c.2622T>G (p.Asp874Glu) n.2874T>G c.2775T>G (p.Asp925Glu) c.1680T>G (p.Asp560Glu) c.1269T>G (p.Asp423Glu) n.2792T>G | |
5 | g.13886040A>G | CA443273693 | DNAH5 | c.2667T>C (p.Asp889=) c.2622T>C (p.Asp874=) n.2874T>C c.2775T>C (p.Asp925=) c.1680T>C (p.Asp560=) c.1269T>C (p.Asp423=) n.2792T>C | |
5 | g.13886040A>T | CA359196424 | DNAH5 | c.2667T>A (p.Asp889Glu) c.2622T>A (p.Asp874Glu) n.2874T>A c.2775T>A (p.Asp925Glu) c.1680T>A (p.Asp560Glu) c.1269T>A (p.Asp423Glu) n.2792T>A | |
5 | g.13886041T>A | CA359196430 | DNAH5 | c.2666A>T (p.Asp889Val) c.2621A>T (p.Asp874Val) n.2873A>T c.2774A>T (p.Asp925Val) c.1679A>T (p.Asp560Val) c.1268A>T (p.Asp423Val) n.2791A>T | gnomAD v4 |
5 | g.13886041T>C | CA359196434 | DNAH5 | c.2666A>G (p.Asp889Gly) c.2621A>G (p.Asp874Gly) n.2873A>G c.2774A>G (p.Asp925Gly) c.1679A>G (p.Asp560Gly) c.1268A>G (p.Asp423Gly) n.2791A>G | gnomAD v4 |
5 | g.13886041T>G | CA359196432 | DNAH5 | c.2666A>C (p.Asp889Ala) c.2621A>C (p.Asp874Ala) n.2873A>C c.2774A>C (p.Asp925Ala) c.1679A>C (p.Asp560Ala) c.1268A>C (p.Asp423Ala) n.2791A>C | |
5 | g.13886042C>A | CA359196437 | DNAH5 | c.2665G>T (p.Asp889Tyr) c.2620G>T (p.Asp874Tyr) n.2872G>T c.2773G>T (p.Asp925Tyr) c.1678G>T (p.Asp560Tyr) c.1267G>T (p.Asp423Tyr) n.2790G>T | |
5 | g.13886042C>G | CA359196440 | DNAH5 | c.2665G>C (p.Asp889His) c.2620G>C (p.Asp874His) n.2872G>C c.2773G>C (p.Asp925His) c.1678G>C (p.Asp560His) c.1267G>C (p.Asp423His) n.2790G>C | gnomAD v4 |
5 | g.13886042C>T | CA359196441 | DNAH5 | c.2665G>A (p.Asp889Asn) c.2620G>A (p.Asp874Asn) n.2872G>A c.2773G>A (p.Asp925Asn) c.1678G>A (p.Asp560Asn) c.1267G>A (p.Asp423Asn) n.2790G>A | |
5 | g.13886043del | CA2673277316 | DNAH5 | c.2665del (p.Asp889MetfsTer?) c.2620del (p.Asp874MetfsTer?) n.2872del c.2773del (p.Asp925MetfsTer?) c.1678del (p.Asp560MetfsTer?) c.1267del (p.Asp423MetfsTer?) n.2790del | gnomAD v4 |
5 | g.13886043C>A | CA443273697 | DNAH5 | c.2664G>T (p.Leu888=) c.2619G>T (p.Leu873=) n.2871G>T c.2772G>T (p.Leu924=) c.1677G>T (p.Leu559=) c.1266G>T (p.Leu422=) n.2789G>T | |
5 | g.13886043C>G | CA443273698 | DNAH5 | c.2664G>C (p.Leu888=) c.2619G>C (p.Leu873=) n.2871G>C c.2772G>C (p.Leu924=) c.1677G>C (p.Leu559=) c.1266G>C (p.Leu422=) n.2789G>C | |
5 | g.13886043C>T | CA443273699 | DNAH5 | c.2664G>A (p.Leu888=) c.2619G>A (p.Leu873=) n.2871G>A c.2772G>A (p.Leu924=) c.1677G>A (p.Leu559=) c.1266G>A (p.Leu422=) n.2789G>A |