Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.49974459C>A | CA402432685 | MYO5B | c.1010G>T c.1213G>T (p.Ala405Ser) c.1210G>T (p.Ala404Ser) | |
18 | g.49974459C>G | CA402432687 | MYO5B | c.1010G>C c.1213G>C (p.Ala405Pro) c.1210G>C (p.Ala404Pro) | |
18 | g.49974459C>T | CA402432688 | MYO5B | c.1010G>A c.1213G>A (p.Ala405Thr) c.1210G>A (p.Ala404Thr) | |
18 | g.49974460C>A | CA299985951 | MYO5B | c.1009G>T c.1212G>T (p.Leu404=) c.1209G>T (p.Leu403=) | ClinVar dbSNP gnomAD v4 |
18 | g.49974460C= | CA2302477546 | MYO5B | c.1009G= c.1212G= (p.Leu404=) c.1209G= (p.Leu403=) | |
18 | g.49974460C>G | CA503991941 | MYO5B | c.1009G>C c.1212G>C (p.Leu404=) c.1209G>C (p.Leu403=) | |
18 | g.49974460C>T | CA503991942 | MYO5B | c.1009G>A c.1212G>A (p.Leu404=) c.1209G>A (p.Leu403=) | |
18 | g.49974461A>C | CA402432689 | MYO5B | c.1008T>G c.1211T>G (p.Leu404Arg) c.1208T>G (p.Leu403Arg) | |
18 | g.49974461A>G | CA402432690 | MYO5B | c.1008T>C c.1211T>C (p.Leu404Pro) c.1208T>C (p.Leu403Pro) | |
18 | g.49974461A>T | CA402432691 | MYO5B | c.1008T>A c.1211T>A (p.Leu404Gln) c.1208T>A (p.Leu403Gln) | |
18 | g.49974462G>A | CA503991943 | MYO5B | c.1007C>T c.1210C>T (p.Leu404=) c.1207C>T (p.Leu403=) | |
18 | g.49974462G>C | CA8961608 | MYO5B | c.1007C>G c.1210C>G (p.Leu404Val) c.1207C>G (p.Leu403Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974462G= | CA2302477547 | MYO5B | c.1007C= c.1210C= (p.Leu404=) c.1207C= (p.Leu403=) | |
18 | g.49974462G>T | CA402432693 | MYO5B | c.1007C>A c.1210C>A (p.Leu404Met) c.1207C>A (p.Leu403Met) | |
18 | g.49974463G>A | CA299985952 | MYO5B | c.1006C>T c.1209C>T (p.Ala403=) c.1206C>T (p.Ala402=) | dbSNP COSMIC |
18 | g.49974463G>C | CA503991944 | MYO5B | c.1006C>G c.1209C>G (p.Ala403=) c.1206C>G (p.Ala402=) | |
18 | g.49974463G= | CA2302477548 | MYO5B | c.1006C= c.1209C= (p.Ala403=) c.1206C= (p.Ala402=) | |
18 | g.49974463G>T | CA503991945 | MYO5B | c.1006C>A c.1209C>A (p.Ala403=) c.1206C>A (p.Ala402=) | |
18 | g.49974464G>A | CA8961609 | MYO5B | c.1005C>T c.1208C>T (p.Ala403Val) c.1205C>T (p.Ala402Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974464G>C | CA402432697 | MYO5B | c.1005C>G c.1208C>G (p.Ala403Gly) c.1205C>G (p.Ala402Gly) | |
18 | g.49974464G= | CA2302477549 | MYO5B | c.1005C= c.1208C= (p.Ala403=) c.1205C= (p.Ala402=) | |
18 | g.49974464G>T | CA402432695 | MYO5B | c.1005C>A c.1208C>A (p.Ala403Asp) c.1205C>A (p.Ala402Asp) | |
18 | g.49974465C>A | CA402432700 | MYO5B | c.1004G>T c.1207G>T (p.Ala403Ser) c.1204G>T (p.Ala402Ser) | gnomAD v4 |
18 | g.49974465C= | CA2302477550 | MYO5B | c.1004G= c.1207G= (p.Ala403=) c.1204G= (p.Ala402=) | |
18 | g.49974465C>G | CA402432702 | MYO5B | c.1004G>C c.1207G>C (p.Ala403Pro) c.1204G>C (p.Ala402Pro) | |
18 | g.49974465C>T | CA8961610 | MYO5B | c.1004G>A c.1207G>A (p.Ala403Thr) c.1204G>A (p.Ala402Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974466G>A | CA8961611 | MYO5B | c.1003C>T c.1206C>T (p.Asn402=) c.1203C>T (p.Asn401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974466G>C | CA402432706 | MYO5B | c.1003C>G c.1206C>G (p.Asn402Lys) c.1203C>G (p.Asn401Lys) | |
18 | g.49974466G= | CA2302477551 | MYO5B | c.1003C= c.1206C= (p.Asn402=) c.1203C= (p.Asn401=) | |
18 | g.49974466G>T | CA299985953 | MYO5B | c.1003C>A c.1206C>A (p.Asn402Lys) c.1203C>A (p.Asn401Lys) | dbSNP |
18 | g.49974467T>A | CA402432708 | MYO5B | c.1002A>T c.1205A>T (p.Asn402Ile) c.1202A>T (p.Asn401Ile) | |
18 | g.49974467T>C | CA8961612 | MYO5B | c.1002A>G c.1205A>G (p.Asn402Ser) c.1202A>G (p.Asn401Ser) | dbSNP ExAC gnomAD v2 |
18 | g.49974467T>G | CA402432712 | MYO5B | c.1002A>C c.1205A>C (p.Asn402Thr) c.1202A>C (p.Asn401Thr) | |
18 | g.49974467T= | CA2302477552 | MYO5B | c.1002A= c.1205A= (p.Asn402=) c.1202A= (p.Asn401=) | |
18 | g.49974468T>A | CA402432714 | MYO5B | c.1001A>T c.1204A>T (p.Asn402Tyr) c.1201A>T (p.Asn401Tyr) | |
18 | g.49974468T>C | CA402432715 | MYO5B | c.1001A>G c.1204A>G (p.Asn402Asp) c.1201A>G (p.Asn401Asp) | gnomAD v4 |
18 | g.49974468T>G | CA402432717 | MYO5B | c.1001A>C c.1204A>C (p.Asn402His) c.1201A>C (p.Asn401His) | |
18 | g.49974469G>A | CA503991949 | MYO5B | c.1000C>T c.1203C>T (p.Arg401=) c.1200C>T (p.Arg400=) | |
18 | g.49974469G>C | CA503991951 | MYO5B | c.1000C>G c.1203C>G (p.Arg401=) c.1200C>G (p.Arg400=) | |
18 | g.49974469G>T | CA503991952 | MYO5B | c.1000C>A c.1203C>A (p.Arg401=) c.1200C>A (p.Arg400=) | |
18 | g.49974470C>A | CA402432723 | MYO5B | c.999G>T c.1202G>T (p.Arg401Leu) c.1199G>T (p.Arg400Leu) | gnomAD v4 |
18 | g.49974470C= | CA2302477553 | MYO5B | c.999G= c.1202G= (p.Arg401=) c.1199G= (p.Arg400=) | |
18 | g.49974470C>G | CA402432725 | MYO5B | c.999G>C c.1202G>C (p.Arg401Pro) c.1199G>C (p.Arg400Pro) | gnomAD v4 |
18 | g.49974470C>T | CA402432721 | MYO5B | c.999G>A c.1202G>A (p.Arg401His) c.1199G>A (p.Arg400His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974471G>A | CA8961613 | MYO5B | c.998C>T c.1201C>T (p.Arg401Cys) c.1198C>T (p.Arg400Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974471G>C | CA402432727 | MYO5B | c.998C>G c.1201C>G (p.Arg401Gly) c.1198C>G (p.Arg400Gly) | gnomAD v4 |
18 | g.49974471G= | CA2302477554 | MYO5B | c.998C= c.1201C= (p.Arg401=) c.1198C= (p.Arg400=) | |
18 | g.49974471G>T | CA402432728 | MYO5B | c.998C>A c.1201C>A (p.Arg401Ser) c.1198C>A (p.Arg400Ser) | |
18 | g.49974472C>A | CA503991954 | MYO5B | c.997G>T c.1200G>T (p.Ala400=) c.1197G>T (p.Ala399=) | |
18 | g.49974472C= | CA2302477555 | MYO5B | c.997G= c.1200G= (p.Ala400=) c.1197G= (p.Ala399=) | |
18 | g.49974472C>G | CA503991953 | MYO5B | c.997G>C c.1200G>C (p.Ala400=) c.1197G>C (p.Ala399=) | |
18 | g.49974472C>T | CA8961614 | MYO5B | c.997G>A c.1200G>A (p.Ala400=) c.1197G>A (p.Ala399=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974473G>A | CA8961615 | MYO5B | c.996C>T c.1199C>T (p.Ala400Val) c.1196C>T (p.Ala399Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974473G>C | CA402432729 | MYO5B | c.996C>G c.1199C>G (p.Ala400Gly) c.1196C>G (p.Ala399Gly) | |
18 | g.49974473G= | CA2302477556 | MYO5B | c.996C= c.1199C= (p.Ala400=) c.1196C= (p.Ala399=) | |
18 | g.49974473G>T | CA402432732 | MYO5B | c.996C>A c.1199C>A (p.Ala400Glu) c.1196C>A (p.Ala399Glu) | COSMIC |
18 | g.49974474C>A | CA402432734 | MYO5B | c.995G>T c.1198G>T (p.Ala400Ser) c.1195G>T (p.Ala399Ser) | |
18 | g.49974474C= | CA2302477557 | MYO5B | c.995G= c.1198G= (p.Ala400=) c.1195G= (p.Ala399=) | |
18 | g.49974474C>G | CA402432735 | MYO5B | c.995G>C c.1198G>C (p.Ala400Pro) c.1195G>C (p.Ala399Pro) | |
18 | g.49974474C>T | CA402432736 | MYO5B | c.995G>A c.1198G>A (p.Ala400Thr) c.1195G>A (p.Ala399Thr) | dbSNP |
18 | g.49974475A= | CA2302477558 | MYO5B | c.994T= c.1197T= (p.Asn399=) c.1194T= (p.Asn398=) | |
18 | g.49974475A>C | CA402432737 | MYO5B | c.994T>G c.1197T>G (p.Asn399Lys) c.1194T>G (p.Asn398Lys) | |
18 | g.49974475A>G | CA503991957 | MYO5B | c.994T>C c.1197T>C (p.Asn399=) c.1194T>C (p.Asn398=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974475A>T | CA402432740 | MYO5B | c.994T>A c.1197T>A (p.Asn399Lys) c.1194T>A (p.Asn398Lys) | |
18 | g.49974476T>A | CA402432756 | MYO5B | c.993A>T c.1196A>T (p.Asn399Ile) c.1193A>T (p.Asn398Ile) | |
18 | g.49974476T>C | CA299985954 | MYO5B | c.993A>G c.1196A>G (p.Asn399Ser) c.1193A>G (p.Asn398Ser) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974476T>G | CA402432749 | MYO5B | c.993A>C c.1196A>C (p.Asn399Thr) c.1193A>C (p.Asn398Thr) | |
18 | g.49974476T= | CA2302477559 | MYO5B | c.993A= c.1196A= (p.Asn399=) c.1193A= (p.Asn398=) | |
18 | g.49974477T>A | CA402432759 | MYO5B | c.992A>T c.1195A>T (p.Asn399Tyr) c.1192A>T (p.Asn398Tyr) | |
18 | g.49974477T>C | CA402432767 | MYO5B | c.992A>G c.1195A>G (p.Asn399Asp) c.1192A>G (p.Asn398Asp) | dbSNP |
18 | g.49974477T>G | CA402432768 | MYO5B | c.992A>C c.1195A>C (p.Asn399His) c.1192A>C (p.Asn398His) | |
18 | g.49974477T= | CA2302477560 | MYO5B | c.992A= c.1195A= (p.Asn399=) c.1192A= (p.Asn398=) | |
18 | g.49974478G>A | CA503991959 | MYO5B | c.991C>T c.1194C>T (p.Ile398=) c.1191C>T (p.Ile397=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974478G>C | CA402432771 | MYO5B | c.991C>G c.1194C>G (p.Ile398Met) c.1191C>G (p.Ile397Met) | dbSNP gnomAD v4 COSMIC |
18 | g.49974478G= | CA2302477561 | MYO5B | c.991C= c.1194C= (p.Ile398=) c.1191C= (p.Ile397=) | |
18 | g.49974478G>T | CA503991960 | MYO5B | c.991C>A c.1194C>A (p.Ile398=) c.1191C>A (p.Ile397=) | |
18 | g.49974479A= | CA2302477562 | MYO5B | c.990T= c.1193T= (p.Ile398=) c.1190T= (p.Ile397=) | |
18 | g.49974479A>C | CA402432779 | MYO5B | c.990T>G c.1193T>G (p.Ile398Ser) c.1190T>G (p.Ile397Ser) | |
18 | g.49974479A>G | CA8961616 | MYO5B | c.990T>C c.1193T>C (p.Ile398Thr) c.1190T>C (p.Ile397Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974479A>T | CA402432774 | MYO5B | c.990T>A c.1193T>A (p.Ile398Asn) c.1190T>A (p.Ile397Asn) | |
18 | g.49974480T>A | CA402432783 | MYO5B | c.989A>T c.1192A>T (p.Ile398Phe) c.1189A>T (p.Ile397Phe) | |
18 | g.49974480T>C | CA402432794 | MYO5B | c.989A>G c.1192A>G (p.Ile398Val) c.1189A>G (p.Ile397Val) | gnomAD v4 |
18 | g.49974480T>G | CA402432804 | MYO5B | c.989A>C c.1192A>C (p.Ile398Leu) c.1189A>C (p.Ile397Leu) | |
18 | g.49974481C>A | CA503991961 | MYO5B | c.988G>T c.1191G>T (p.Val397=) c.1188G>T (p.Val396=) | |
18 | g.49974481C>G | CA503991962 | MYO5B | c.988G>C c.1191G>C (p.Val397=) c.1188G>C (p.Val396=) | |
18 | g.49974481C>T | CA503991963 | MYO5B | c.988G>A c.1191G>A (p.Val397=) c.1188G>A (p.Val396=) | COSMIC |
18 | g.49974482A>C | CA402432805 | MYO5B | c.987T>G c.1190T>G (p.Val397Gly) c.1187T>G (p.Val396Gly) | |
18 | g.49974482A>G | CA402432806 | MYO5B | c.987T>C c.1190T>C (p.Val397Ala) c.1187T>C (p.Val396Ala) | |
18 | g.49974482A>T | CA402432807 | MYO5B | c.987T>A c.1190T>A (p.Val397Glu) c.1187T>A (p.Val396Glu) | |
18 | g.49974483C>A | CA402432816 | MYO5B | c.986G>T c.1189G>T (p.Val397Leu) c.1186G>T (p.Val396Leu) | |
18 | g.49974483C>G | CA402432811 | MYO5B | c.986G>C c.1189G>C (p.Val397Leu) c.1186G>C (p.Val396Leu) | |
18 | g.49974483C>T | CA402432809 | MYO5B | c.986G>A c.1189G>A (p.Val397Met) c.1186G>A (p.Val396Met) | |
18 | g.49974484C>A | CA402432819 | MYO5B | c.985G>T c.1188G>T (p.Gln396His) c.1185G>T (p.Gln395His) | |
18 | g.49974484C>G | CA402432826 | MYO5B | c.985G>C c.1188G>C (p.Gln396His) c.1185G>C (p.Gln395His) | gnomAD v4 |
18 | g.49974484C>T | CA503991965 | MYO5B | c.985G>A c.1188G>A (p.Gln396=) c.1185G>A (p.Gln395=) | |
18 | g.49974485T>A | CA299985955 | MYO5B | c.984A>T c.1187A>T (p.Gln396Leu) c.1184A>T (p.Gln395Leu) | dbSNP gnomAD v4 |
18 | g.49974485T>C | CA402432833 | MYO5B | c.984A>G c.1187A>G (p.Gln396Arg) c.1184A>G (p.Gln395Arg) | |
18 | g.49974485T>G | CA402432838 | MYO5B | c.984A>C c.1187A>C (p.Gln396Pro) c.1184A>C (p.Gln395Pro) | ClinVar dbSNP |
18 | g.49974485T= | CA2302477563 | MYO5B | c.984A= c.1187A= (p.Gln396=) c.1184A= (p.Gln395=) | |
18 | g.49974486G>A | CA402432851 | MYO5B | c.983C>T c.1186C>T (p.Gln396Ter) c.1183C>T (p.Gln395Ter) | |
18 | g.49974486G>C | CA402432845 | MYO5B | c.983C>G c.1186C>G (p.Gln396Glu) c.1183C>G (p.Gln395Glu) | |
18 | g.49974486G>T | CA402432840 | MYO5B | c.983C>A c.1186C>A (p.Gln396Lys) c.1183C>A (p.Gln395Lys) | |
18 | g.49974487C>A | CA402432854 | MYO5B | c.982G>T c.1185G>T (p.Gln395His) c.1182G>T (p.Gln394His) | |
18 | g.49974487C= | CA2302477564 | MYO5B | c.982G= c.1185G= (p.Gln395=) c.1182G= (p.Gln394=) | |
18 | g.49974487C>G | CA402432856 | MYO5B | c.982G>C c.1185G>C (p.Gln395His) c.1182G>C (p.Gln394His) | |
18 | g.49974487C>T | CA8961617 | MYO5B | c.982G>A c.1185G>A (p.Gln395=) c.1182G>A (p.Gln394=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.49974488T>A | CA402432859 | MYO5B | c.981A>T c.1184A>T (p.Gln395Leu) c.1181A>T (p.Gln394Leu) | |
18 | g.49974488T>C | CA402432860 | MYO5B | c.981A>G c.1184A>G (p.Gln395Arg) c.1181A>G (p.Gln394Arg) | |
18 | g.49974488T>G | CA402432862 | MYO5B | c.981A>C c.1184A>C (p.Gln395Pro) c.1181A>C (p.Gln394Pro) | |
18 | g.49974489G>A | CA402432873 | MYO5B | c.980C>T c.1183C>T (p.Gln395Ter) c.1180C>T (p.Gln394Ter) | |
18 | g.49974489G>C | CA402432864 | MYO5B | c.980C>G c.1183C>G (p.Gln395Glu) c.1180C>G (p.Gln394Glu) | |
18 | g.49974489G= | CA2302477565 | MYO5B | c.980C= c.1183C= (p.Gln395=) c.1180C= (p.Gln394=) | |
18 | g.49974489G>T | CA402432871 | MYO5B | c.980C>A c.1183C>A (p.Gln395Lys) c.1180C>A (p.Gln394Lys) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974490C>A | CA8961618 | MYO5B | c.979G>T c.1182G>T (p.Leu394=) c.1179G>T (p.Leu393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974490C= | CA2302477566 | MYO5B | c.979G= c.1182G= (p.Leu394=) c.1179G= (p.Leu393=) | |
18 | g.49974490C>G | CA503992040 | MYO5B | c.979G>C c.1182G>C (p.Leu394=) c.1179G>C (p.Leu393=) | |
18 | g.49974490C>T | CA503992039 | MYO5B | c.979G>A c.1182G>A (p.Leu394=) c.1179G>A (p.Leu393=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974491A= | CA2302477567 | MYO5B | c.978T= c.1181T= (p.Leu394=) c.1178T= (p.Leu393=) | |
18 | g.49974491A>C | CA402432876 | MYO5B | c.978T>G c.1181T>G (p.Leu394Arg) c.1178T>G (p.Leu393Arg) | |
18 | g.49974491A>G | CA402432879 | MYO5B | c.978T>C c.1181T>C (p.Leu394Pro) c.1178T>C (p.Leu393Pro) | |
18 | g.49974491A>T | CA402432882 | MYO5B | c.978T>A c.1181T>A (p.Leu394Gln) c.1178T>A (p.Leu393Gln) | dbSNP |
18 | g.49974492G>A | CA8961619 | MYO5B | c.977C>T c.1180C>T (p.Leu394=) c.1177C>T (p.Leu393=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974492G>C | CA402432886 | MYO5B | c.977C>G c.1180C>G (p.Leu394Val) c.1177C>G (p.Leu393Val) | |
18 | g.49974492G= | CA2302477568 | MYO5B | c.977C= c.1180C= (p.Leu394=) c.1177C= (p.Leu393=) | |
18 | g.49974492G>T | CA402432889 | MYO5B | c.977C>A c.1180C>A (p.Leu394Met) c.1177C>A (p.Leu393Met) | |
18 | g.49974493G>A | CA503992042 | MYO5B | c.976C>T c.1179C>T (p.Ser393=) c.1176C>T (p.Ser392=) | |
18 | g.49974493G>C | CA503992043 | MYO5B | c.976C>G c.1179C>G (p.Ser393=) c.1176C>G (p.Ser392=) | gnomAD v4 |
18 | g.49974493G= | CA2302477569 | MYO5B | c.976C= c.1179C= (p.Ser393=) c.1176C= (p.Ser392=) | |
18 | g.49974493G>T | CA503992044 | MYO5B | c.976C>A c.1179C>A (p.Ser393=) c.1176C>A (p.Ser392=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974494G>A | CA402432891 | MYO5B | c.975C>T c.1178C>T (p.Ser393Phe) c.1175C>T (p.Ser392Phe) | |
18 | g.49974494G>C | CA402432892 | MYO5B | c.975C>G c.1178C>G (p.Ser393Cys) c.1175C>G (p.Ser392Cys) | |
18 | g.49974494G>T | CA402432895 | MYO5B | c.975C>A c.1178C>A (p.Ser393Tyr) c.1175C>A (p.Ser392Tyr) | |
18 | g.49974495A= | CA2302477570 | MYO5B | c.974T= c.1177T= (p.Ser393=) c.1174T= (p.Ser392=) | |
18 | g.49974495A>C | CA402432898 | MYO5B | c.974T>G c.1177T>G (p.Ser393Ala) c.1174T>G (p.Ser392Ala) | |
18 | g.49974495A>G | CA8961620 | MYO5B | c.974T>C c.1177T>C (p.Ser393Pro) c.1174T>C (p.Ser392Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974495A>T | CA402432900 | MYO5B | c.974T>A c.1177T>A (p.Ser393Thr) c.1174T>A (p.Ser392Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974496C>A | CA402432903 | MYO5B | c.973G>T c.1176G>T (p.Met392Ile) c.1173G>T (p.Met391Ile) | |
18 | g.49974496C>G | CA402432909 | MYO5B | c.973G>C c.1176G>C (p.Met392Ile) c.1173G>C (p.Met391Ile) | |
18 | g.49974496C>T | CA402432906 | MYO5B | c.973G>A c.1176G>A (p.Met392Ile) c.1173G>A (p.Met391Ile) | |
18 | g.49974497A= | CA2302477571 | MYO5B | c.972T= c.1175T= (p.Met392=) c.1172T= (p.Met391=) | |
18 | g.49974497A>C | CA402432911 | MYO5B | c.972T>G c.1175T>G (p.Met392Arg) c.1172T>G (p.Met391Arg) | gnomAD v4 |
18 | g.49974497A>G | CA402432913 | MYO5B | c.972T>C c.1175T>C (p.Met392Thr) c.1172T>C (p.Met391Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974497A>T | CA402432916 | MYO5B | c.972T>A c.1175T>A (p.Met392Lys) c.1172T>A (p.Met391Lys) | |
18 | g.49974498T>A | CA402432918 | MYO5B | c.971A>T c.1174A>T (p.Met392Leu) c.1171A>T (p.Met391Leu) | |
18 | g.49974498T>C | CA402432921 | MYO5B | c.971A>G c.1174A>G (p.Met392Val) c.1171A>G (p.Met391Val) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.49974498T>G | CA402432923 | MYO5B | c.971A>C c.1174A>C (p.Met392Leu) c.1171A>C (p.Met391Leu) | |
18 | g.49974498T= | CA2302477572 | MYO5B | c.971A= c.1174A= (p.Met392=) c.1171A= (p.Met391=) | |
18 | g.49974499G>A | CA503992047 | MYO5B | c.970C>T c.1173C>T (p.Thr391=) c.1170C>T (p.Thr390=) | gnomAD v4 |
18 | g.49974499G>C | CA503992048 | MYO5B | c.970C>G c.1173C>G (p.Thr391=) c.1170C>G (p.Thr390=) | |
18 | g.49974499G>T | CA503992049 | MYO5B | c.970C>A c.1173C>A (p.Thr391=) c.1170C>A (p.Thr390=) | gnomAD v4 |
18 | g.49974500G>A | CA402432926 | MYO5B | c.969C>T c.1172C>T (p.Thr391Ile) c.1169C>T (p.Thr390Ile) | |
18 | g.49974500G>C | CA402432929 | MYO5B | c.969C>G c.1172C>G (p.Thr391Ser) c.1169C>G (p.Thr390Ser) | |
18 | g.49974500G>T | CA402432931 | MYO5B | c.969C>A c.1172C>A (p.Thr391Asn) c.1169C>A (p.Thr390Asn) | gnomAD v4 |
18 | g.49974501T>A | CA402432934 | MYO5B | c.968A>T c.1171A>T (p.Thr391Ser) c.1168A>T (p.Thr390Ser) | |
18 | g.49974501T>C | CA402432935 | MYO5B | c.968A>G c.1171A>G (p.Thr391Ala) c.1168A>G (p.Thr390Ala) | dbSNP |
18 | g.49974501T>G | CA402432939 | MYO5B | c.968A>C c.1171A>C (p.Thr391Pro) c.1168A>C (p.Thr390Pro) | |
18 | g.49974501T= | CA2302477573 | MYO5B | c.968A= c.1171A= (p.Thr391=) c.1168A= (p.Thr390=) | |
18 | g.49974502C>A | CA402432942 | MYO5B | c.967G>T c.1170G>T (p.Lys390Asn) c.1167G>T (p.Lys389Asn) | |
18 | g.49974502C>G | CA402432941 | MYO5B | c.967G>C c.1170G>C (p.Lys390Asn) c.1167G>C (p.Lys389Asn) | |
18 | g.49974502C>T | CA503992051 | MYO5B | c.967G>A c.1170G>A (p.Lys390=) c.1167G>A (p.Lys389=) | |
18 | g.49974503T>A | CA402432945 | MYO5B | c.966A>T c.1169A>T (p.Lys390Met) c.1166A>T (p.Lys389Met) | |
18 | g.49974503T>C | CA8961621 | MYO5B | c.966A>G c.1169A>G (p.Lys390Arg) c.1166A>G (p.Lys389Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974503T>G | CA402432948 | MYO5B | c.966A>C c.1169A>C (p.Lys390Thr) c.1166A>C (p.Lys389Thr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974503T= | CA2302477574 | MYO5B | c.966A= c.1169A= (p.Lys390=) c.1166A= (p.Lys389=) | |
18 | g.49974504T>A | CA402432950 | MYO5B | c.965A>T c.1168A>T (p.Lys390Ter) c.1165A>T (p.Lys389Ter) | |
18 | g.49974504T>C | CA402432953 | MYO5B | c.965A>G c.1168A>G (p.Lys390Glu) c.1165A>G (p.Lys389Glu) | |
18 | g.49974504T>G | CA8961622 | MYO5B | c.965A>C c.1168A>C (p.Lys390Gln) c.1165A>C (p.Lys389Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974504T= | CA2302477575 | MYO5B | c.965A= c.1168A= (p.Lys390=) c.1165A= (p.Lys389=) | |
18 | g.49974505G>A | CA503992054 | MYO5B | c.964C>T c.1167C>T (p.Val389=) c.1164C>T (p.Val388=) | |
18 | g.49974505G>C | CA503992053 | MYO5B | c.964C>G c.1167C>G (p.Val389=) c.1164C>G (p.Val388=) | |
18 | g.49974505G>T | CA503992052 | MYO5B | c.964C>A c.1167C>A (p.Val389=) c.1164C>A (p.Val388=) | |
18 | g.49974506A>C | CA402432966 | MYO5B | c.963T>G c.1166T>G (p.Val389Gly) c.1163T>G (p.Val388Gly) | |
18 | g.49974506A>G | CA402432968 | MYO5B | c.963T>C c.1166T>C (p.Val389Ala) c.1163T>C (p.Val388Ala) | |
18 | g.49974506A>T | CA402432970 | MYO5B | c.963T>A c.1166T>A (p.Val389Asp) c.1163T>A (p.Val388Asp) | |
18 | g.49974507C>A | CA8961623 | MYO5B | c.962G>T c.1165G>T (p.Val389Phe) c.1162G>T (p.Val388Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974507C= | CA2302477576 | MYO5B | c.962G= c.1165G= (p.Val389=) c.1162G= (p.Val388=) | |
18 | g.49974507C>G | CA402432974 | MYO5B | c.962G>C c.1165G>C (p.Val389Leu) c.1162G>C (p.Val388Leu) | |
18 | g.49974507C>T | CA8961624 | MYO5B | c.962G>A c.1165G>A (p.Val389Ile) c.1162G>A (p.Val388Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974508G>A | CA8961625 | MYO5B | c.961C>T c.1164C>T (p.Tyr388=) c.1161C>T (p.Tyr387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974508G>C | CA402432981 | MYO5B | c.961C>G c.1164C>G (p.Tyr388Ter) c.1161C>G (p.Tyr387Ter) | |
18 | g.49974508G= | CA2302477577 | MYO5B | c.961C= c.1164C= (p.Tyr388=) c.1161C= (p.Tyr387=) | |
18 | g.49974508G>T | CA402432978 | MYO5B | c.961C>A c.1164C>A (p.Tyr388Ter) c.1161C>A (p.Tyr387Ter) | |
18 | g.49974509T>A | CA402432985 | MYO5B | c.960A>T c.1163A>T (p.Tyr388Phe) c.1160A>T (p.Tyr387Phe) | dbSNP |
18 | g.49974509T>C | CA402432988 | MYO5B | c.960A>G c.1163A>G (p.Tyr388Cys) c.1160A>G (p.Tyr387Cys) | |
18 | g.49974509T>G | CA402432987 | MYO5B | c.960A>C c.1163A>C (p.Tyr388Ser) c.1160A>C (p.Tyr387Ser) | |
18 | g.49974509T= | CA2302477578 | MYO5B | c.960A= c.1163A= (p.Tyr388=) c.1160A= (p.Tyr387=) | |
18 | g.49974510A>C | CA402432993 | MYO5B | c.959T>G c.1162T>G (p.Tyr388Asp) c.1159T>G (p.Tyr387Asp) | |
18 | g.49974510A>G | CA402432997 | MYO5B | c.959T>C c.1162T>C (p.Tyr388His) c.1159T>C (p.Tyr387His) | |
18 | g.49974510A>T | CA402432995 | MYO5B | c.959T>A c.1162T>A (p.Tyr388Asn) c.1159T>A (p.Tyr387Asn) | |
18 | g.49974511G>A | CA503992055 | MYO5B | c.958C>T c.1161C>T (p.Thr387=) c.1158C>T (p.Thr386=) | |
18 | g.49974511G>C | CA503992056 | MYO5B | c.958C>G c.1161C>G (p.Thr387=) c.1158C>G (p.Thr386=) | gnomAD v4 |
18 | g.49974511G>T | CA503992057 | MYO5B | c.958C>A c.1161C>A (p.Thr387=) c.1158C>A (p.Thr386=) | |
18 | g.49974512G>A | CA402433001 | MYO5B | c.957C>T c.1160C>T (p.Thr387Ile) c.1157C>T (p.Thr386Ile) | |
18 | g.49974512G>C | CA402433007 | MYO5B | c.957C>G c.1160C>G (p.Thr387Ser) c.1157C>G (p.Thr386Ser) | gnomAD v4 |
18 | g.49974512G>T | CA402433005 | MYO5B | c.957C>A c.1160C>A (p.Thr387Asn) c.1157C>A (p.Thr386Asn) | |
18 | g.49974513T>A | CA402433010 | MYO5B | c.956A>T c.1159A>T (p.Thr387Ser) c.1156A>T (p.Thr386Ser) | |
18 | g.49974513T>C | CA402433015 | MYO5B | c.956A>G c.1159A>G (p.Thr387Ala) c.1156A>G (p.Thr386Ala) | |
18 | g.49974513T>G | CA402433013 | MYO5B | c.956A>C c.1159A>C (p.Thr387Pro) c.1156A>C (p.Thr386Pro) | |
18 | g.49974514C>A | CA8961626 | MYO5B | c.955G>T c.1158G>T (p.Glu386Asp) c.1155G>T (p.Glu385Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974514C= | CA2302477579 | MYO5B | c.955G= c.1158G= (p.Glu386=) c.1155G= (p.Glu385=) | |
18 | g.49974514C>G | CA402433020 | MYO5B | c.955G>C c.1158G>C (p.Glu386Asp) c.1155G>C (p.Glu385Asp) | gnomAD v4 |
18 | g.49974514C>T | CA503992060 | MYO5B | c.955G>A c.1158G>A (p.Glu386=) c.1155G>A (p.Glu385=) | gnomAD v4 |
18 | g.49974515T>A | CA402433023 | MYO5B | c.954A>T c.1157A>T (p.Glu386Val) c.1154A>T (p.Glu385Val) | |
18 | g.49974515T>C | CA402433025 | MYO5B | c.954A>G c.1157A>G (p.Glu386Gly) c.1154A>G (p.Glu385Gly) | |
18 | g.49974515T>G | CA402433028 | MYO5B | c.954A>C c.1157A>C (p.Glu386Ala) c.1154A>C (p.Glu385Ala) | |
18 | g.49974516C>A | CA402433032 | MYO5B | c.953G>T c.1156G>T (p.Glu386Ter) c.1153G>T (p.Glu385Ter) | |
18 | g.49974516C>G | CA402433035 | MYO5B | c.953G>C c.1156G>C (p.Glu386Gln) c.1153G>C (p.Glu385Gln) | |
18 | g.49974516C>T | CA402433038 | MYO5B | c.953G>A c.1156G>A (p.Glu386Lys) c.1153G>A (p.Glu385Lys) | |
18 | g.49974517C>A | CA503992061 | MYO5B | c.952G>T c.1155G>T (p.Ser385=) c.1152G>T (p.Ser384=) | |
18 | g.49974517C= | CA2302477580 | MYO5B | c.952G= c.1155G= (p.Ser385=) c.1152G= (p.Ser384=) | |
18 | g.49974517C>G | CA503992063 | MYO5B | c.952G>C c.1155G>C (p.Ser385=) c.1152G>C (p.Ser384=) | |
18 | g.49974517C>T | CA8961627 | MYO5B | c.952G>A c.1155G>A (p.Ser385=) c.1152G>A (p.Ser384=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974518G>A | CA8961628 | MYO5B | c.951C>T c.1154C>T (p.Ser385Leu) c.1151C>T (p.Ser384Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974518G>C | CA402433050 | MYO5B | c.951C>G c.1154C>G (p.Ser385Trp) c.1151C>G (p.Ser384Trp) | dbSNP gnomAD v4 |
18 | g.49974518G= | CA2302477581 | MYO5B | c.951C= c.1154C= (p.Ser385=) c.1151C= (p.Ser384=) | |
18 | g.49974518G>T | CA402433052 | MYO5B | c.951C>A c.1154C>A (p.Ser385Ter) c.1151C>A (p.Ser384Ter) | |
18 | g.49974519A>C | CA402433054 | MYO5B | c.950T>G c.1153T>G (p.Ser385Ala) c.1150T>G (p.Ser384Ala) | |
18 | g.49974519A>G | CA402433059 | MYO5B | c.950T>C c.1153T>C (p.Ser385Pro) c.1150T>C (p.Ser384Pro) | |
18 | g.49974519A>T | CA402433056 | MYO5B | c.950T>A c.1153T>A (p.Ser385Thr) c.1150T>A (p.Ser384Thr) | |
18 | g.49974520G>A | CA503992070 | MYO5B | c.949C>T c.1152C>T (p.Thr384=) c.1149C>T (p.Thr383=) | gnomAD v4 |
18 | g.49974520G>C | CA503992072 | MYO5B | c.949C>G c.1152C>G (p.Thr384=) c.1149C>G (p.Thr383=) | |
18 | g.49974520G>T | CA503992074 | MYO5B | c.949C>A c.1152C>A (p.Thr384=) c.1149C>A (p.Thr383=) | |
18 | g.49974521G>A | CA402433062 | MYO5B | c.948C>T c.1151C>T (p.Thr384Ile) c.1148C>T (p.Thr383Ile) | |
18 | g.49974521G>C | CA402433064 | MYO5B | c.948C>G c.1151C>G (p.Thr384Ser) c.1148C>G (p.Thr383Ser) | |
18 | g.49974521G>T | CA402433067 | MYO5B | c.948C>A c.1151C>A (p.Thr384Asn) c.1148C>A (p.Thr383Asn) | gnomAD v4 |
18 | g.49974522T>A | CA402433069 | MYO5B | c.947A>T c.1150A>T (p.Thr384Ser) c.1147A>T (p.Thr383Ser) | |
18 | g.49974522T>C | CA402433071 | MYO5B | c.947A>G c.1150A>G (p.Thr384Ala) c.1147A>G (p.Thr383Ala) | |
18 | g.49974522T>G | CA402433073 | MYO5B | c.947A>C c.1150A>C (p.Thr384Pro) c.1147A>C (p.Thr383Pro) | |
18 | g.49974523G>A | CA503992077 | MYO5B | c.946C>T c.1149C>T (p.Thr383=) c.1146C>T (p.Thr382=) | |
18 | g.49974523G>C | CA503992078 | MYO5B | c.946C>G c.1149C>G (p.Thr383=) c.1146C>G (p.Thr382=) | |
18 | g.49974523G>T | CA503992079 | MYO5B | c.946C>A c.1149C>A (p.Thr383=) c.1146C>A (p.Thr382=) | |
18 | g.49974524G>A | CA402433077 | MYO5B | c.945C>T c.1148C>T (p.Thr383Ile) c.1145C>T (p.Thr382Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974524G>C | CA402433080 | MYO5B | c.945C>G c.1148C>G (p.Thr383Ser) c.1145C>G (p.Thr382Ser) | |
18 | g.49974524G= | CA2302477582 | MYO5B | c.945C= c.1148C= (p.Thr383=) c.1145C= (p.Thr382=) | |
18 | g.49974524G>T | CA402433082 | MYO5B | c.945C>A c.1148C>A (p.Thr383Asn) c.1145C>A (p.Thr382Asn) | |
18 | g.49974525T>A | CA402433088 | MYO5B | c.944A>T c.1147A>T (p.Thr383Ser) c.1144A>T (p.Thr382Ser) | |
18 | g.49974525T>C | CA402433091 | MYO5B | c.944A>G c.1147A>G (p.Thr383Ala) c.1144A>G (p.Thr382Ala) | |
18 | g.49974525T>G | CA402433085 | MYO5B | c.944A>C c.1147A>C (p.Thr383Pro) c.1144A>C (p.Thr382Pro) | |
18 | g.49974526G>A | CA503992083 | MYO5B | c.943C>T c.1146C>T (p.Val382=) c.1143C>T (p.Val381=) | gnomAD v4 |
18 | g.49974526G>C | CA503992082 | MYO5B | c.943C>G c.1146C>G (p.Val382=) c.1143C>G (p.Val381=) | |
18 | g.49974526G>T | CA503992081 | MYO5B | c.943C>A c.1146C>A (p.Val382=) c.1143C>A (p.Val381=) | |
18 | g.49974527A= | CA2302477583 | MYO5B | c.942T= c.1145T= (p.Val382=) c.1142T= (p.Val381=) | |
18 | g.49974527A>C | CA402433092 | MYO5B | c.942T>G c.1145T>G (p.Val382Gly) c.1142T>G (p.Val381Gly) | dbSNP |
18 | g.49974527A>G | CA402433095 | MYO5B | c.942T>C c.1145T>C (p.Val382Ala) c.1142T>C (p.Val381Ala) | gnomAD v4 |
18 | g.49974527A>T | CA402433101 | MYO5B | c.942T>A c.1145T>A (p.Val382Asp) c.1142T>A (p.Val381Asp) | |
18 | g.49974528C>A | CA402433104 | MYO5B | c.941G>T c.1144G>T (p.Val382Phe) c.1141G>T (p.Val381Phe) | |
18 | g.49974528C>G | CA402433106 | MYO5B | c.941G>C c.1144G>C (p.Val382Leu) c.1141G>C (p.Val381Leu) | |
18 | g.49974528C>T | CA402433108 | MYO5B | c.941G>A c.1144G>A (p.Val382Ile) c.1141G>A (p.Val381Ile) | |
18 | g.49974529C>A | CA503992086 | MYO5B | c.940G>T c.1143G>T (p.Leu381=) c.1140G>T (p.Leu380=) | |
18 | g.49974529C>G | CA503992088 | MYO5B | c.940G>C c.1143G>C (p.Leu381=) c.1140G>C (p.Leu380=) | |
18 | g.49974529C>T | CA503992089 | MYO5B | c.940G>A c.1143G>A (p.Leu381=) c.1140G>A (p.Leu380=) | gnomAD v4 |
18 | g.49974530A>C | CA402433110 | MYO5B | c.939T>G c.1142T>G (p.Leu381Arg) c.1139T>G (p.Leu380Arg) | |
18 | g.49974530A>G | CA402433114 | MYO5B | c.939T>C c.1142T>C (p.Leu381Pro) c.1139T>C (p.Leu380Pro) | gnomAD v4 |
18 | g.49974530A>T | CA402433112 | MYO5B | c.939T>A c.1142T>A (p.Leu381Gln) c.1139T>A (p.Leu380Gln) | |
18 | g.49974531G>A | CA503992092 | MYO5B | c.938C>T c.1141C>T (p.Leu381=) c.1138C>T (p.Leu380=) | |
18 | g.49974531G>C | CA8961629 | MYO5B | c.938C>G c.1141C>G (p.Leu381Val) c.1138C>G (p.Leu380Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974531G= | CA2302477584 | MYO5B | c.938C= c.1141C= (p.Leu381=) c.1138C= (p.Leu380=) | |
18 | g.49974531G>T | CA402433117 | MYO5B | c.938C>A c.1141C>A (p.Leu381Met) c.1138C>A (p.Leu380Met) | |
18 | g.49974532C>A | CA402433120 | MYO5B | c.937G>T c.1140G>T (p.Lys380Asn) c.1137G>T (p.Lys379Asn) | |
18 | g.49974532C= | CA2302477585 | MYO5B | c.937G= c.1140G= (p.Lys380=) c.1137G= (p.Lys379=) | |
18 | g.49974532C>G | CA402433122 | MYO5B | c.937G>C c.1140G>C (p.Lys380Asn) c.1137G>C (p.Lys379Asn) | dbSNP gnomAD v4 |
18 | g.49974532C>T | CA503992093 | MYO5B | c.937G>A c.1140G>A (p.Lys380=) c.1137G>A (p.Lys379=) | |
18 | g.49974533T>A | CA402433125 | MYO5B | c.936A>T c.1139A>T (p.Lys380Met) c.1136A>T (p.Lys379Met) | dbSNP |
18 | g.49974533T>C | CA402433127 | MYO5B | c.936A>G c.1139A>G (p.Lys380Arg) c.1136A>G (p.Lys379Arg) | |
18 | g.49974533T>G | CA402433126 | MYO5B | c.936A>C c.1139A>C (p.Lys380Thr) c.1136A>C (p.Lys379Thr) | |
18 | g.49974533T= | CA2302477586 | MYO5B | c.936A= c.1139A= (p.Lys380=) c.1136A= (p.Lys379=) | |
18 | g.49974534T>A | CA402433128 | MYO5B | c.935A>T c.1138A>T (p.Lys380Ter) c.1135A>T (p.Lys379Ter) | |
18 | g.49974534T>C | CA402433129 | MYO5B | c.935A>G c.1138A>G (p.Lys380Glu) c.1135A>G (p.Lys379Glu) | |
18 | g.49974534T>G | CA402433131 | MYO5B | c.935A>C c.1138A>C (p.Lys380Gln) c.1135A>C (p.Lys379Gln) | |
18 | g.49974535G>A | CA503992097 | MYO5B | c.934C>T c.1137C>T (p.Arg379=) c.1134C>T (p.Arg378=) | |
18 | g.49974535G>C | CA503992098 | MYO5B | c.934C>G c.1137C>G (p.Arg379=) c.1134C>G (p.Arg378=) | |
18 | g.49974535G>T | CA503992099 | MYO5B | c.934C>A c.1137C>A (p.Arg379=) c.1134C>A (p.Arg378=) | |
18 | g.49974536C>A | CA402433132 | MYO5B | c.933G>T c.1136G>T (p.Arg379Leu) c.1133G>T (p.Arg378Leu) | |
18 | g.49974536C= | CA2302477587 | MYO5B | c.933G= c.1136G= (p.Arg379=) c.1133G= (p.Arg378=) | |
18 | g.49974536C>G | CA402433134 | MYO5B | c.933G>C c.1136G>C (p.Arg379Pro) c.1133G>C (p.Arg378Pro) | |
18 | g.49974536C>T | CA8961630 | MYO5B | c.933G>A c.1136G>A (p.Arg379His) c.1133G>A (p.Arg378His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974537G>A | CA8961631 | MYO5B | c.932C>T c.1135C>T (p.Arg379Cys) c.1132C>T (p.Arg378Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.49974537G>C | CA402433139 | MYO5B | c.932C>G c.1135C>G (p.Arg379Gly) c.1132C>G (p.Arg378Gly) | gnomAD v4 |
18 | g.49974537G= | CA2302477588 | MYO5B | c.932C= c.1135C= (p.Arg379=) c.1132C= (p.Arg378=) | |
18 | g.49974537G>T | CA402433141 | MYO5B | c.932C>A c.1135C>A (p.Arg379Ser) c.1132C>A (p.Arg378Ser) | |
18 | g.49974538A>C | CA402433145 | MYO5B | c.931T>G c.1134T>G (p.His378Gln) c.1131T>G (p.His377Gln) | |
18 | g.49974538A>G | CA503992102 | MYO5B | c.931T>C c.1134T>C (p.His378=) c.1131T>C (p.His377=) | gnomAD v4 |
18 | g.49974538A>T | CA402433146 | MYO5B | c.931T>A c.1134T>A (p.His378Gln) c.1131T>A (p.His377Gln) | |
18 | g.49974538dup | CA2641797088 | MYO5B | c.931dup c.1134dup (p.Arg379SerfsTer?) c.1131dup (p.Arg378SerfsTer?) | gnomAD v4 |
18 | g.49974539T>A | CA402433154 | MYO5B | c.930A>T c.1133A>T (p.His378Leu) c.1130A>T (p.His377Leu) | |
18 | g.49974539T>C | CA402433151 | MYO5B | c.930A>G c.1133A>G (p.His378Arg) c.1130A>G (p.His377Arg) | |
18 | g.49974539T>G | CA402433149 | MYO5B | c.930A>C c.1133A>C (p.His378Pro) c.1130A>C (p.His377Pro) | |
18 | g.49974540G>A | CA402433156 | MYO5B | c.929C>T c.1132C>T (p.His378Tyr) c.1129C>T (p.His377Tyr) | gnomAD v4 COSMIC |
18 | g.49974540G>C | CA402433161 | MYO5B | c.929C>G c.1132C>G (p.His378Asp) c.1129C>G (p.His377Asp) | |
18 | g.49974540G>T | CA402433159 | MYO5B | c.929C>A c.1132C>A (p.His378Asn) c.1129C>A (p.His377Asn) | gnomAD v4 |
18 | g.49974541A>C | CA402433162 | MYO5B | c.928T>G c.1131T>G (p.Cys377Trp) c.1128T>G (p.Cys376Trp) | |
18 | g.49974541A>G | CA503992103 | MYO5B | c.928T>C c.1131T>C (p.Cys377=) c.1128T>C (p.Cys376=) | |
18 | g.49974541A>T | CA402433163 | MYO5B | c.928T>A c.1131T>A (p.Cys377Ter) c.1128T>A (p.Cys376Ter) | |
18 | g.49974542C>A | CA402433164 | MYO5B | c.927G>T c.1130G>T (p.Cys377Phe) c.1127G>T (p.Cys376Phe) | |
18 | g.49974542C= | CA2302477589 | MYO5B | c.927G= c.1130G= (p.Cys377=) c.1127G= (p.Cys376=) | |
18 | g.49974542C>G | CA402433165 | MYO5B | c.927G>C c.1130G>C (p.Cys377Ser) c.1127G>C (p.Cys376Ser) | |
18 | g.49974542C>T | CA8961632 | MYO5B | c.927G>A c.1130G>A (p.Cys377Tyr) c.1127G>A (p.Cys376Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974543A>C | CA402433169 | MYO5B | c.926T>G c.1129T>G (p.Cys377Gly) c.1126T>G (p.Cys376Gly) | |
18 | g.49974543A>G | CA402433172 | MYO5B | c.926T>C c.1129T>C (p.Cys377Arg) c.1126T>C (p.Cys376Arg) | |
18 | g.49974543A>T | CA402433174 | MYO5B | c.926T>A c.1129T>A (p.Cys377Ser) c.1126T>A (p.Cys376Ser) | |
18 | g.49974544C>A | CA299985956 | MYO5B | c.925G>T c.1128G>T (p.Leu376=) c.1125G>T (p.Leu375=) | dbSNP |
18 | g.49974544C= | CA2302477590 | MYO5B | c.925G= c.1128G= (p.Leu376=) c.1125G= (p.Leu375=) | |
18 | g.49974544C>G | CA503992107 | MYO5B | c.925G>C c.1128G>C (p.Leu376=) c.1125G>C (p.Leu375=) | dbSNP |
18 | g.49974544C>T | CA8961633 | MYO5B | c.925G>A c.1128G>A (p.Leu376=) c.1125G>A (p.Leu375=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974545A>C | CA402433178 | MYO5B | c.924T>G c.1127T>G (p.Leu376Arg) c.1124T>G (p.Leu375Arg) | |
18 | g.49974545A>G | CA402433180 | MYO5B | c.924T>C c.1127T>C (p.Leu376Pro) c.1124T>C (p.Leu375Pro) | |
18 | g.49974545A>T | CA402433182 | MYO5B | c.924T>A c.1127T>A (p.Leu376Gln) c.1124T>A (p.Leu375Gln) | |
18 | g.49974546G>A | CA503992108 | MYO5B | c.923C>T c.1126C>T (p.Leu376=) c.1123C>T (p.Leu375=) | gnomAD v4 |
18 | g.49974546G>C | CA402433186 | MYO5B | c.923C>G c.1126C>G (p.Leu376Val) c.1123C>G (p.Leu375Val) | |
18 | g.49974546G>T | CA402433185 | MYO5B | c.923C>A c.1126C>A (p.Leu376Met) c.1123C>A (p.Leu375Met) | |
18 | g.49974547C>A | CA402433188 | MYO5B | c.922G>T c.1125G>T (p.Trp375Cys) c.1122G>T (p.Trp374Cys) | |
18 | g.49974547C= | CA2302477591 | MYO5B | c.922G= c.1125G= (p.Trp375=) c.1122G= (p.Trp374=) | |
18 | g.49974547C>G | CA402433191 | MYO5B | c.922G>C c.1125G>C (p.Trp375Cys) c.1122G>C (p.Trp374Cys) | gnomAD v4 |
18 | g.49974547C>T | CA116743 | MYO5B | c.922G>A c.1125G>A (p.Trp375Ter) c.1122G>A (p.Trp374Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.49974548C>A | CA402433199 | MYO5B | c.921G>T c.1124G>T (p.Trp375Leu) c.1121G>T (p.Trp374Leu) | |
18 | g.49974548C= | CA2302477592 | MYO5B | c.921G= c.1124G= (p.Trp375=) c.1121G= (p.Trp374=) | |
18 | g.49974548C>G | CA299985957 | MYO5B | c.921G>C c.1124G>C (p.Trp375Ser) c.1121G>C (p.Trp374Ser) | dbSNP gnomAD v4 |
18 | g.49974548C>T | CA402433202 | MYO5B | c.921G>A c.1124G>A (p.Trp375Ter) c.1121G>A (p.Trp374Ter) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974549A>C | CA402433206 | MYO5B | c.920T>G c.1123T>G (p.Trp375Gly) c.1120T>G (p.Trp374Gly) | gnomAD v4 |
18 | g.49974549A>G | CA402433214 | MYO5B | c.920T>C c.1123T>C (p.Trp375Arg) c.1120T>C (p.Trp374Arg) | |
18 | g.49974549A>T | CA402433216 | MYO5B | c.920T>A c.1123T>A (p.Trp375Arg) c.1120T>A (p.Trp374Arg) | |
18 | g.49974550G>A | CA8961634 | MYO5B | c.919C>T c.1122C>T (p.His374=) c.1119C>T (p.His373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974550G>C | CA402433221 | MYO5B | c.919C>G c.1122C>G (p.His374Gln) c.1119C>G (p.His373Gln) | |
18 | g.49974550G= | CA2302477593 | MYO5B | c.919C= c.1122C= (p.His374=) c.1119C= (p.His373=) | |
18 | g.49974550G>T | CA402433222 | MYO5B | c.919C>A c.1122C>A (p.His374Gln) c.1119C>A (p.His373Gln) | |
18 | g.49974551T>A | CA402433228 | MYO5B | c.918A>T c.1121A>T (p.His374Leu) c.1118A>T (p.His373Leu) | |
18 | g.49974551T>C | CA8961635 | MYO5B | c.918A>G c.1121A>G (p.His374Arg) c.1118A>G (p.His373Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974551T>G | CA402433224 | MYO5B | c.918A>C c.1121A>C (p.His374Pro) c.1118A>C (p.His373Pro) | |
18 | g.49974551T= | CA2302477594 | MYO5B | c.918A= c.1121A= (p.His374=) c.1118A= (p.His373=) | |
18 | g.49974552G>A | CA402433231 | MYO5B | c.917C>T c.1120C>T (p.His374Tyr) c.1117C>T (p.His373Tyr) | gnomAD v4 |
18 | g.49974552G>C | CA402433234 | MYO5B | c.917C>G c.1120C>G (p.His374Asp) c.1117C>G (p.His373Asp) | |
18 | g.49974552G= | CA2302477595 | MYO5B | c.917C= c.1120C= (p.His374=) c.1117C= (p.His373=) | |
18 | g.49974552G>T | CA402433235 | MYO5B | c.917C>A c.1120C>A (p.His374Asn) c.1117C>A (p.His373Asn) | dbSNP gnomAD v2 |
18 | g.49974553C>A | CA402433239 | MYO5B | c.916G>T c.1119G>T (p.Glu373Asp) c.1116G>T (p.Glu372Asp) | |
18 | g.49974553C>G | CA402433240 | MYO5B | c.916G>C c.1119G>C (p.Glu373Asp) c.1116G>C (p.Glu372Asp) | |
18 | g.49974553C>T | CA503992116 | MYO5B | c.916G>A c.1119G>A (p.Glu373=) c.1116G>A (p.Glu372=) | gnomAD v4 COSMIC |
18 | g.49974554T>A | CA402433246 | MYO5B | c.915A>T c.1118A>T (p.Glu373Val) c.1115A>T (p.Glu372Val) | dbSNP |
18 | g.49974554T>C | CA402433245 | MYO5B | c.915A>G c.1118A>G (p.Glu373Gly) c.1115A>G (p.Glu372Gly) | |
18 | g.49974554T>G | CA402433243 | MYO5B | c.915A>C c.1118A>C (p.Glu373Ala) c.1115A>C (p.Glu372Ala) | |
18 | g.49974555C>A | CA402433250 | MYO5B | c.914G>T c.1117G>T (p.Glu373Ter) c.1114G>T (p.Glu372Ter) | |
18 | g.49974555C= | CA2302477596 | MYO5B | c.914G= c.1117G= (p.Glu373=) c.1114G= (p.Glu372=) | |
18 | g.49974555C>G | CA402433251 | MYO5B | c.914G>C c.1117G>C (p.Glu373Gln) c.1114G>C (p.Glu372Gln) | |
18 | g.49974555C>T | CA402433254 | MYO5B | c.914G>A c.1117G>A (p.Glu373Lys) c.1114G>A (p.Glu372Lys) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.49974556C>A | CA402433255 | MYO5B | c.913G>T c.1116G>T (p.Met372Ile) c.1113G>T (p.Met371Ile) | |
18 | g.49974556C>G | CA402433258 | MYO5B | c.913G>C c.1116G>C (p.Met372Ile) c.1113G>C (p.Met371Ile) | |
18 | g.49974556C>T | CA402433260 | MYO5B | c.913G>A c.1116G>A (p.Met372Ile) c.1113G>A (p.Met371Ile) | ClinVar dbSNP gnomAD v4 |
18 | g.49974557A>C | CA402433264 | MYO5B | c.912T>G c.1115T>G (p.Met372Arg) c.1112T>G (p.Met371Arg) | |
18 | g.49974557A>G | CA402433269 | MYO5B | c.912T>C c.1115T>C (p.Met372Thr) c.1112T>C (p.Met371Thr) | |
18 | g.49974557A>T | CA402433266 | MYO5B | c.912T>A c.1115T>A (p.Met372Lys) c.1112T>A (p.Met371Lys) | |
18 | g.49974558T>A | CA8961636 | MYO5B | c.911A>T c.1114A>T (p.Met372Leu) c.1111A>T (p.Met371Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.49974558T>C | CA402433272 | MYO5B | c.911A>G c.1114A>G (p.Met372Val) c.1111A>G (p.Met371Val) | |
18 | g.49974558T>G | CA402433275 | MYO5B | c.911A>C c.1114A>C (p.Met372Leu) c.1111A>C (p.Met371Leu) | |
18 | g.49974558T= | CA2302477597 | MYO5B | c.911A= c.1114A= (p.Met372=) c.1111A= (p.Met371=) | |
18 | g.49974558_49974562delinsTCTGA | CA2302477598 | MYO5B | c.907_911delinsTCAGA c.1110_1114delinsTCAGA (p.Ser370=) c.1107_1111delinsTCAGA (p.Ser369=) | |
18 | g.49974559C>A | CA402433278 | MYO5B | c.910G>T c.1113G>T (p.Gln371His) c.1110G>T (p.Gln370His) | |
18 | g.49974559C>G | CA402433282 | MYO5B | c.910G>C c.1113G>C (p.Gln371His) c.1110G>C (p.Gln370His) | |
18 | g.49974559C>T | CA503992118 | MYO5B | c.910G>A c.1113G>A (p.Gln371=) c.1110G>A (p.Gln370=) | gnomAD v4 |
18 | g.49974562_49974565del | CA2302477599 | MYO5B | c.907_910del c.1110_1113del (p.Ser370ArgfsTer27) c.1107_1110del (p.Ser369ArgfsTer27) | ClinVar dbSNP gnomAD v4 |