12 | g.5045317_5045355del | CA2617209923 | KCNA5 | c.1170_1208del (p.Gln391_Arg403del)
| gnomAD v4 |
12 | g.5045338C>A | CA6399819 | KCNA5 | c.1191C>A (p.Ala397=)
| dbSNP ExAC gnomAD v2 COSMIC |
12 | g.5045338C= | CA2013431194 | KCNA5 | c.1191C= (p.Ala397=)
| |
12 | g.5045338C>G | CA478095575 | KCNA5 | c.1191C>G (p.Ala397=)
| |
12 | g.5045338C>T | CA478095576 | KCNA5 | c.1191C>T (p.Ala397=)
| |
12 | g.5045339A= | CA2013431195 | KCNA5 | c.1192A= (p.Ile398=)
| |
12 | g.5045339A>C | CA383465967 | KCNA5 | c.1192A>C (p.Ile398Leu)
| |
12 | g.5045339A>G | CA383465969 | KCNA5 | c.1192A>G (p.Ile398Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045339A>T | CA383465968 | KCNA5 | c.1192A>T (p.Ile398Phe)
| |
12 | g.5045340T>A | CA383465970 | KCNA5 | c.1193T>A (p.Ile398Asn)
| |
12 | g.5045340T>C | CA383465971 | KCNA5 | c.1193T>C (p.Ile398Thr)
| |
12 | g.5045340T>G | CA383465972 | KCNA5 | c.1193T>G (p.Ile398Ser)
| |
12 | g.5045341C>A | CA478095579 | KCNA5 | c.1194C>A (p.Ile398=)
| COSMIC |
12 | g.5045341C>G | CA383465973 | KCNA5 | c.1194C>G (p.Ile398Met)
| |
12 | g.5045341C>T | CA478095580 | KCNA5 | c.1194C>T (p.Ile398=)
| |
12 | g.5045342C>A | CA383465975 | KCNA5 | c.1195C>A (p.Leu399Ile)
| |
12 | g.5045342C= | CA2013431196 | KCNA5 | c.1195C= (p.Leu399=)
| |
12 | g.5045342C>G | CA383465974 | KCNA5 | c.1195C>G (p.Leu399Val)
| |
12 | g.5045342C>T | CA231868628 | KCNA5 | c.1195C>T (p.Leu399Phe)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.5045343T>A | CA383465976 | KCNA5 | c.1196T>A (p.Leu399His)
| |
12 | g.5045343T>C | CA383465977 | KCNA5 | c.1196T>C (p.Leu399Pro)
| |
12 | g.5045343T>G | CA383465978 | KCNA5 | c.1196T>G (p.Leu399Arg)
| |
12 | g.5045344C>A | CA478095582 | KCNA5 | c.1197C>A (p.Leu399=)
| |
12 | g.5045344C>G | CA478095583 | KCNA5 | c.1197C>G (p.Leu399=)
| |
12 | g.5045344C>T | CA478095584 | KCNA5 | c.1197C>T (p.Leu399=)
| |
12 | g.5045345C>A | CA6399821 | KCNA5 | c.1198C>A (p.Arg400=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045345C= | CA2013431197 | KCNA5 | c.1198C= (p.Arg400=)
| |
12 | g.5045345C>G | CA383465979 | KCNA5 | c.1198C>G (p.Arg400Gly)
| ClinVar dbSNP |
12 | g.5045345C>T | CA6399820 | KCNA5 | c.1198C>T (p.Arg400Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045346del | CA2575052197 | KCNA5 | c.1199del (p.Arg400GlnfsTer?)
| |
12 | g.5045346G>A | CA231868638 | KCNA5 | c.1199G>A (p.Arg400Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045346G>C | CA383465980 | KCNA5 | c.1199G>C (p.Arg400Pro)
| |
12 | g.5045346G= | CA2013431198 | KCNA5 | c.1199G= (p.Arg400=)
| |
12 | g.5045346G>T | CA383465981 | KCNA5 | c.1199G>T (p.Arg400Leu)
| gnomAD v4 |
12 | g.5045347A>C | CA478095590 | KCNA5 | c.1200A>C (p.Arg400=)
| |
12 | g.5045347A>G | CA478095592 | KCNA5 | c.1200A>G (p.Arg400=)
| |
12 | g.5045347A>T | CA478095594 | KCNA5 | c.1200A>T (p.Arg400=)
| |
12 | g.5045348G>A | CA383465982 | KCNA5 | c.1201G>A (p.Val401Ile)
| gnomAD v4 |
12 | g.5045348G>C | CA383465983 | KCNA5 | c.1201G>C (p.Val401Leu)
| |
12 | g.5045348G>T | CA383465984 | KCNA5 | c.1201G>T (p.Val401Phe)
| |
12 | g.5045349T>A | CA383465985 | KCNA5 | c.1202T>A (p.Val401Asp)
| |
12 | g.5045349T>C | CA383465987 | KCNA5 | c.1202T>C (p.Val401Ala)
| |
12 | g.5045349T>G | CA383465986 | KCNA5 | c.1202T>G (p.Val401Gly)
| |
12 | g.5045350C>A | CA478095598 | KCNA5 | c.1203C>A (p.Val401=)
| |
12 | g.5045350C>G | CA478095599 | KCNA5 | c.1203C>G (p.Val401=)
| |
12 | g.5045350C>T | CA478095600 | KCNA5 | c.1203C>T (p.Val401=)
| |
12 | g.5045351A= | CA2013431199 | KCNA5 | c.1204A= (p.Ile402=)
| |
12 | g.5045351A>C | CA383465988 | KCNA5 | c.1204A>C (p.Ile402Leu)
| |
12 | g.5045351A>G | CA383465989 | KCNA5 | c.1204A>G (p.Ile402Val)
| gnomAD v4 |
12 | g.5045351A>T | CA6399822 | KCNA5 | c.1204A>T (p.Ile402Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045352T>A | CA383465990 | KCNA5 | c.1205T>A (p.Ile402Asn)
| |
12 | g.5045352T>C | CA383465991 | KCNA5 | c.1205T>C (p.Ile402Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045352T>G | CA383465992 | KCNA5 | c.1205T>G (p.Ile402Ser)
| gnomAD v4 |
12 | g.5045352T= | CA2013431200 | KCNA5 | c.1205T= (p.Ile402=)
| |
12 | g.5045353C>A | CA478095602 | KCNA5 | c.1206C>A (p.Ile402=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045353C= | CA2013431201 | KCNA5 | c.1206C= (p.Ile402=)
| |
12 | g.5045353C>G | CA383465993 | KCNA5 | c.1206C>G (p.Ile402Met)
| |
12 | g.5045353C>T | CA478095603 | KCNA5 | c.1206C>T (p.Ile402=)
| |
12 | g.5045354C>A | CA383465994 | KCNA5 | c.1207C>A (p.Arg403Ser)
| |
12 | g.5045354C= | CA2013431202 | KCNA5 | c.1207C= (p.Arg403=)
| |
12 | g.5045354C>G | CA383465995 | KCNA5 | c.1207C>G (p.Arg403Gly)
| |
12 | g.5045354C>T | CA383465996 | KCNA5 | c.1207C>T (p.Arg403Cys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045355G>A | CA383465997 | KCNA5 | c.1208G>A (p.Arg403His)
| gnomAD v4 |
12 | g.5045355G>C | CA383465998 | KCNA5 | c.1208G>C (p.Arg403Pro)
| |
12 | g.5045355G= | CA2013431203 | KCNA5 | c.1208G= (p.Arg403=)
| |
12 | g.5045355G>T | CA6399823 | KCNA5 | c.1208G>T (p.Arg403Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045356C>A | CA478095610 | KCNA5 | c.1209C>A (p.Arg403=)
| |
12 | g.5045356C>G | CA478095611 | KCNA5 | c.1209C>G (p.Arg403=)
| |
12 | g.5045356C>T | CA478095612 | KCNA5 | c.1209C>T (p.Arg403=)
| |
12 | g.5045357C>A | CA383466000 | KCNA5 | c.1210C>A (p.Leu404Met)
| |
12 | g.5045357C= | CA2013431204 | KCNA5 | c.1210C= (p.Leu404=)
| |
12 | g.5045357C>G | CA383465999 | KCNA5 | c.1210C>G (p.Leu404Val)
| ClinVar dbSNP |
12 | g.5045357C>T | CA10642610 | KCNA5 | c.1210C>T (p.Leu404=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045358T>A | CA383466001 | KCNA5 | c.1211T>A (p.Leu404Gln)
| COSMIC |
12 | g.5045358T>C | CA383466002 | KCNA5 | c.1211T>C (p.Leu404Pro)
| |
12 | g.5045358T>G | CA383466003 | KCNA5 | c.1211T>G (p.Leu404Arg)
| |
12 | g.5045359G>A | CA231868663 | KCNA5 | c.1212G>A (p.Leu404=)
| dbSNP |
12 | g.5045359G>C | CA6399824 | KCNA5 | c.1212G>C (p.Leu404=)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045359G= | CA2013431205 | KCNA5 | c.1212G= (p.Leu404=)
| |
12 | g.5045359G>T | CA478095618 | KCNA5 | c.1212G>T (p.Leu404=)
| |
12 | g.5045360G>A | CA383466004 | KCNA5 | c.1213G>A (p.Val405Ile)
| dbSNP |
12 | g.5045360G>C | CA383466005 | KCNA5 | c.1213G>C (p.Val405Leu)
| |
12 | g.5045360G= | CA2013431206 | KCNA5 | c.1213G= (p.Val405=)
| |
12 | g.5045360G>T | CA383466006 | KCNA5 | c.1213G>T (p.Val405Phe)
| |
12 | g.5045361T>A | CA383466007 | KCNA5 | c.1214T>A (p.Val405Asp)
| |
12 | g.5045361T>C | CA383466008 | KCNA5 | c.1214T>C (p.Val405Ala)
| gnomAD v4 |
12 | g.5045361T>G | CA383466009 | KCNA5 | c.1214T>G (p.Val405Gly)
| |
12 | g.5045362C>A | CA478095622 | KCNA5 | c.1215C>A (p.Val405=)
| |
12 | g.5045362C= | CA2013431207 | KCNA5 | c.1215C= (p.Val405=)
| |
12 | g.5045362C>G | CA478095625 | KCNA5 | c.1215C>G (p.Val405=)
| |
12 | g.5045362C>T | CA478095628 | KCNA5 | c.1215C>T (p.Val405=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045363C>A | CA478095630 | KCNA5 | c.1216C>A (p.Arg406=)
| |
12 | g.5045363C= | CA2013431208 | KCNA5 | c.1216C= (p.Arg406=)
| |
12 | g.5045363C>G | CA383466010 | KCNA5 | c.1216C>G (p.Arg406Gly)
| dbSNP gnomAD v4 |
12 | g.5045363C>T | CA6399825 | KCNA5 | c.1216C>T (p.Arg406Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045364G>A | CA383466012 | KCNA5 | c.1217G>A (p.Arg406Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045364G>C | CA383466013 | KCNA5 | c.1217G>C (p.Arg406Pro)
| |
12 | g.5045364G= | CA2013431209 | KCNA5 | c.1217G= (p.Arg406=)
| |
12 | g.5045364G>T | CA383466011 | KCNA5 | c.1217G>T (p.Arg406Leu)
| dbSNP |
12 | g.5045365G>A | CA6399826 | KCNA5 | c.1218G>A (p.Arg406=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045365G>C | CA478095637 | KCNA5 | c.1218G>C (p.Arg406=)
| |
12 | g.5045365G= | CA2013431210 | KCNA5 | c.1218G= (p.Arg406=)
| |
12 | g.5045365G>T | CA478095639 | KCNA5 | c.1218G>T (p.Arg406=)
| |
12 | g.5045366G>A | CA383466014 | KCNA5 | c.1219G>A (p.Val407Met)
| |
12 | g.5045366G>C | CA383466015 | KCNA5 | c.1219G>C (p.Val407Leu)
| |
12 | g.5045366G>T | CA383466016 | KCNA5 | c.1219G>T (p.Val407Leu)
| |
12 | g.5045367T>A | CA383466017 | KCNA5 | c.1220T>A (p.Val407Glu)
| |
12 | g.5045367T>C | CA383466018 | KCNA5 | c.1220T>C (p.Val407Ala)
| |
12 | g.5045367T>G | CA383466019 | KCNA5 | c.1220T>G (p.Val407Gly)
| |
12 | g.5045368G>A | CA6399827 | KCNA5 | c.1221G>A (p.Val407=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045368G>C | CA478095646 | KCNA5 | c.1221G>C (p.Val407=)
| |
12 | g.5045368G= | CA2013431211 | KCNA5 | c.1221G= (p.Val407=)
| |
12 | g.5045368G>T | CA478095647 | KCNA5 | c.1221G>T (p.Val407=)
| |
12 | g.5045369T>A | CA383466020 | KCNA5 | c.1222T>A (p.Phe408Ile)
| |
12 | g.5045369T>C | CA383466021 | KCNA5 | c.1222T>C (p.Phe408Leu)
| |
12 | g.5045369T>G | CA383466022 | KCNA5 | c.1222T>G (p.Phe408Val)
| |
12 | g.5045370T>A | CA383466023 | KCNA5 | c.1223T>A (p.Phe408Tyr)
| |
12 | g.5045370T>C | CA383466024 | KCNA5 | c.1223T>C (p.Phe408Ser)
| |
12 | g.5045370T>G | CA383466025 | KCNA5 | c.1223T>G (p.Phe408Cys)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045370T= | CA2013431212 | KCNA5 | c.1223T= (p.Phe408=)
| |
12 | g.5045371C>A | CA383466026 | KCNA5 | c.1224C>A (p.Phe408Leu)
| |
12 | g.5045371C>G | CA383466027 | KCNA5 | c.1224C>G (p.Phe408Leu)
| |
12 | g.5045371C>T | CA478095651 | KCNA5 | c.1224C>T (p.Phe408=)
| |
12 | g.5045372C>A | CA383466028 | KCNA5 | c.1225C>A (p.Arg409Ser)
| |
12 | g.5045372C= | CA2013431213 | KCNA5 | c.1225C= (p.Arg409=)
| |
12 | g.5045372C>G | CA6399829 | KCNA5 | c.1225C>G (p.Arg409Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045372C>T | CA6399828 | KCNA5 | c.1225C>T (p.Arg409Cys)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.5045373G>A | CA383466029 | KCNA5 | c.1226G>A (p.Arg409His)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045373G>C | CA383466030 | KCNA5 | c.1226G>C (p.Arg409Pro)
| |
12 | g.5045373G= | CA2013431214 | KCNA5 | c.1226G= (p.Arg409=)
| |
12 | g.5045373G>T | CA383466031 | KCNA5 | c.1226G>T (p.Arg409Leu)
| gnomAD v4 |
12 | g.5045374C>A | CA478095655 | KCNA5 | c.1227C>A (p.Arg409=)
| |
12 | g.5045374C>G | CA478095656 | KCNA5 | c.1227C>G (p.Arg409=)
| |
12 | g.5045374C>T | CA478095657 | KCNA5 | c.1227C>T (p.Arg409=)
| |
12 | g.5045375A>C | CA383466032 | KCNA5 | c.1228A>C (p.Ile410Leu)
| |
12 | g.5045375A>G | CA383466033 | KCNA5 | c.1228A>G (p.Ile410Val)
| |
12 | g.5045375A>T | CA383466034 | KCNA5 | c.1228A>T (p.Ile410Phe)
| |
12 | g.5045376T>A | CA383466035 | KCNA5 | c.1229T>A (p.Ile410Asn)
| |
12 | g.5045376T>C | CA383466036 | KCNA5 | c.1229T>C (p.Ile410Thr)
| |
12 | g.5045376T>G | CA383466037 | KCNA5 | c.1229T>G (p.Ile410Ser)
| |
12 | g.5045377C>A | CA478095662 | KCNA5 | c.1230C>A (p.Ile410=)
| |
12 | g.5045377C= | CA2013431215 | KCNA5 | c.1230C= (p.Ile410=)
| |
12 | g.5045377C>G | CA383466038 | KCNA5 | c.1230C>G (p.Ile410Met)
| |
12 | g.5045377C>T | CA478095663 | KCNA5 | c.1230C>T (p.Ile410=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045378T>A | CA383466040 | KCNA5 | c.1231T>A (p.Phe411Ile)
| gnomAD v4 |
12 | g.5045378T>C | CA383466041 | KCNA5 | c.1231T>C (p.Phe411Leu)
| |
12 | g.5045378T>G | CA383466039 | KCNA5 | c.1231T>G (p.Phe411Val)
| |
12 | g.5045379T>A | CA383466043 | KCNA5 | c.1232T>A (p.Phe411Tyr)
| |
12 | g.5045379T>C | CA383466042 | KCNA5 | c.1232T>C (p.Phe411Ser)
| |
12 | g.5045379T>G | CA383466044 | KCNA5 | c.1232T>G (p.Phe411Cys)
| |
12 | g.5045380C>A | CA383466045 | KCNA5 | c.1233C>A (p.Phe411Leu)
| |
12 | g.5045380C= | CA2013431216 | KCNA5 | c.1233C= (p.Phe411=)
| |
12 | g.5045380C>G | CA383466046 | KCNA5 | c.1233C>G (p.Phe411Leu)
| |
12 | g.5045380C>T | CA6399830 | KCNA5 | c.1233C>T (p.Phe411=)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.5045381_5045390del | CA2575052198 | KCNA5 | c.1234_1243del (p.Lys412AlafsTer17)
| gnomAD v4 |
12 | g.5045381A>C | CA383466047 | KCNA5 | c.1234A>C (p.Lys412Gln)
| |
12 | g.5045381A>G | CA383466048 | KCNA5 | c.1234A>G (p.Lys412Glu)
| |
12 | g.5045381A>T | CA383466049 | KCNA5 | c.1234A>T (p.Lys412Ter)
| |
12 | g.5045382A>C | CA383466050 | KCNA5 | c.1235A>C (p.Lys412Thr)
| |
12 | g.5045382A>G | CA383466051 | KCNA5 | c.1235A>G (p.Lys412Arg)
| |
12 | g.5045382A>T | CA383466052 | KCNA5 | c.1235A>T (p.Lys412Met)
| |
12 | g.5045383G>A | CA478095664 | KCNA5 | c.1236G>A (p.Lys412=)
| |
12 | g.5045383G>C | CA383466053 | KCNA5 | c.1236G>C (p.Lys412Asn)
| |
12 | g.5045383G>T | CA383466054 | KCNA5 | c.1236G>T (p.Lys412Asn)
| gnomAD v4 |
12 | g.5045384C>A | CA6399831 | KCNA5 | c.1237C>A (p.Leu413Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045384C= | CA2013431217 | KCNA5 | c.1237C= (p.Leu413=)
| |
12 | g.5045384C>G | CA383466055 | KCNA5 | c.1237C>G (p.Leu413Val)
| |
12 | g.5045384C>T | CA383466056 | KCNA5 | c.1237C>T (p.Leu413Phe)
| |
12 | g.5045385T>A | CA383466059 | KCNA5 | c.1238T>A (p.Leu413His)
| |
12 | g.5045385T>C | CA383466058 | KCNA5 | c.1238T>C (p.Leu413Pro)
| |
12 | g.5045385T>G | CA383466057 | KCNA5 | c.1238T>G (p.Leu413Arg)
| |
12 | g.5045386C>A | CA478095666 | KCNA5 | c.1239C>A (p.Leu413=)
| |
12 | g.5045386C= | CA2013431218 | KCNA5 | c.1239C= (p.Leu413=)
| |
12 | g.5045386C>G | CA478095667 | KCNA5 | c.1239C>G (p.Leu413=)
| |
12 | g.5045386C>T | CA6399832 | KCNA5 | c.1239C>T (p.Leu413=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045387T>A | CA383466060 | KCNA5 | c.1240T>A (p.Ser414Thr)
| |
12 | g.5045387T>C | CA6399833 | KCNA5 | c.1240T>C (p.Ser414Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045387T>G | CA383466061 | KCNA5 | c.1240T>G (p.Ser414Ala)
| |
12 | g.5045387T= | CA2013431219 | KCNA5 | c.1240T= (p.Ser414=)
| |
12 | g.5045388C>A | CA383466062 | KCNA5 | c.1241C>A (p.Ser414Tyr)
| |
12 | g.5045388C>G | CA383466063 | KCNA5 | c.1241C>G (p.Ser414Cys)
| gnomAD v4 |
12 | g.5045388C>T | CA383466064 | KCNA5 | c.1241C>T (p.Ser414Phe)
| |
12 | g.5045389C>A | CA478095669 | KCNA5 | c.1242C>A (p.Ser414=)
| |
12 | g.5045389C= | CA2013431220 | KCNA5 | c.1242C= (p.Ser414=)
| |
12 | g.5045389C>G | CA6399834 | KCNA5 | c.1242C>G (p.Ser414=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045389C>T | CA478095672 | KCNA5 | c.1242C>T (p.Ser414=)
| ClinVar dbSNP |
12 | g.5045390C>A | CA383466065 | KCNA5 | c.1243C>A (p.Arg415Ser)
| |
12 | g.5045390C= | CA2013431221 | KCNA5 | c.1243C= (p.Arg415=)
| |
12 | g.5045390C>G | CA383466066 | KCNA5 | c.1243C>G (p.Arg415Gly)
| gnomAD v4 |
12 | g.5045390C>T | CA383466067 | KCNA5 | c.1243C>T (p.Arg415Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045391G>A | CA6399835 | KCNA5 | c.1244G>A (p.Arg415His)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.5045391G>C | CA383466069 | KCNA5 | c.1244G>C (p.Arg415Pro)
| |
12 | g.5045391G= | CA2013431222 | KCNA5 | c.1244G= (p.Arg415=)
| |
12 | g.5045391G>T | CA383466068 | KCNA5 | c.1244G>T (p.Arg415Leu)
| gnomAD v4 |
12 | g.5045392C>A | CA478095674 | KCNA5 | c.1245C>A (p.Arg415=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045392C= | CA2013431223 | KCNA5 | c.1245C= (p.Arg415=)
| |
12 | g.5045392C>G | CA478095676 | KCNA5 | c.1245C>G (p.Arg415=)
| |
12 | g.5045392C>T | CA478095675 | KCNA5 | c.1245C>T (p.Arg415=)
| |
12 | g.5045393C>A | CA383466070 | KCNA5 | c.1246C>A (p.His416Asn)
| |
12 | g.5045393C>G | CA383466071 | KCNA5 | c.1246C>G (p.His416Asp)
| |
12 | g.5045393C>T | CA383466072 | KCNA5 | c.1246C>T (p.His416Tyr)
| |
12 | g.5045394A>C | CA383466073 | KCNA5 | c.1247A>C (p.His416Pro)
| |
12 | g.5045394A>G | CA383466074 | KCNA5 | c.1247A>G (p.His416Arg)
| |
12 | g.5045394A>T | CA383466075 | KCNA5 | c.1247A>T (p.His416Leu)
| |
12 | g.5045395C>A | CA383466077 | KCNA5 | c.1248C>A (p.His416Gln)
| |
12 | g.5045395C>G | CA383466076 | KCNA5 | c.1248C>G (p.His416Gln)
| |
12 | g.5045395C>T | CA478095681 | KCNA5 | c.1248C>T (p.His416=)
| COSMIC |
12 | g.5045396T>A | CA383466078 | KCNA5 | c.1249T>A (p.Ser417Thr)
| |
12 | g.5045396T>C | CA383466079 | KCNA5 | c.1249T>C (p.Ser417Pro)
| |
12 | g.5045396T>G | CA383466080 | KCNA5 | c.1249T>G (p.Ser417Ala)
| gnomAD v4 |
12 | g.5045397C>A | CA383466081 | KCNA5 | c.1250C>A (p.Ser417Tyr)
| |
12 | g.5045397C>G | CA383466082 | KCNA5 | c.1250C>G (p.Ser417Cys)
| |
12 | g.5045397C>T | CA383466083 | KCNA5 | c.1250C>T (p.Ser417Phe)
| gnomAD v4 |
12 | g.5045398C>A | CA478095684 | KCNA5 | c.1251C>A (p.Ser417=)
| |
12 | g.5045398C= | CA2013431224 | KCNA5 | c.1251C= (p.Ser417=)
| |
12 | g.5045398C>G | CA478095683 | KCNA5 | c.1251C>G (p.Ser417=)
| |
12 | g.5045398C>T | CA231868734 | KCNA5 | c.1251C>T (p.Ser417=)
| dbSNP gnomAD v4 |
12 | g.5045399A>C | CA383466084 | KCNA5 | c.1252A>C (p.Lys418Gln)
| |
12 | g.5045399A>G | CA383466086 | KCNA5 | c.1252A>G (p.Lys418Glu)
| |
12 | g.5045399A>T | CA383466085 | KCNA5 | c.1252A>T (p.Lys418Ter)
| |
12 | g.5045400A= | CA2013431225 | KCNA5 | c.1253A= (p.Lys418=)
| |
12 | g.5045400A>C | CA383466087 | KCNA5 | c.1253A>C (p.Lys418Thr)
| |
12 | g.5045400A>G | CA6399836 | KCNA5 | c.1253A>G (p.Lys418Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045400A>T | CA383466088 | KCNA5 | c.1253A>T (p.Lys418Met)
| |
12 | g.5045401G>A | CA478095688 | KCNA5 | c.1254G>A (p.Lys418=)
| |
12 | g.5045401G>C | CA383466089 | KCNA5 | c.1254G>C (p.Lys418Asn)
| |
12 | g.5045401G>T | CA383466090 | KCNA5 | c.1254G>T (p.Lys418Asn)
| |
12 | g.5045402G>A | CA383466091 | KCNA5 | c.1255G>A (p.Gly419Arg)
| |
12 | g.5045402G>C | CA383466092 | KCNA5 | c.1255G>C (p.Gly419Arg)
| |
12 | g.5045402G>T | CA383466093 | KCNA5 | c.1255G>T (p.Gly419Trp)
| COSMIC |
12 | g.5045403G>A | CA383466094 | KCNA5 | c.1256G>A (p.Gly419Glu)
| gnomAD v4 |
12 | g.5045403G>C | CA383466095 | KCNA5 | c.1256G>C (p.Gly419Ala)
| |
12 | g.5045403G>T | CA383466096 | KCNA5 | c.1256G>T (p.Gly419Val)
| |
12 | g.5045404G>A | CA478095691 | KCNA5 | c.1257G>A (p.Gly419=)
| gnomAD v4 |
12 | g.5045404G>C | CA478095694 | KCNA5 | c.1257G>C (p.Gly419=)
| gnomAD v4 |
12 | g.5045404G>T | CA478095693 | KCNA5 | c.1257G>T (p.Gly419=)
| |
12 | g.5045405C>A | CA383466097 | KCNA5 | c.1258C>A (p.Leu420Met)
| |
12 | g.5045405C>G | CA383466098 | KCNA5 | c.1258C>G (p.Leu420Val)
| |
12 | g.5045405C>T | CA478095695 | KCNA5 | c.1258C>T (p.Leu420=)
| |
12 | g.5045406T>A | CA383466099 | KCNA5 | c.1259T>A (p.Leu420Gln)
| |
12 | g.5045406T>C | CA383466101 | KCNA5 | c.1259T>C (p.Leu420Pro)
| |
12 | g.5045406T>G | CA383466100 | KCNA5 | c.1259T>G (p.Leu420Arg)
| |
12 | g.5045407G>A | CA478095699 | KCNA5 | c.1260G>A (p.Leu420=)
| gnomAD v4 |
12 | g.5045407G>C | CA478095700 | KCNA5 | c.1260G>C (p.Leu420=)
| |
12 | g.5045407G>T | CA478095701 | KCNA5 | c.1260G>T (p.Leu420=)
| |
12 | g.5045408C>A | CA383466102 | KCNA5 | c.1261C>A (p.Gln421Lys)
| |
12 | g.5045408C>G | CA383466103 | KCNA5 | c.1261C>G (p.Gln421Glu)
| |
12 | g.5045408C>T | CA383466104 | KCNA5 | c.1261C>T (p.Gln421Ter)
| |
12 | g.5045409A>C | CA383466105 | KCNA5 | c.1262A>C (p.Gln421Pro)
| |
12 | g.5045409A>G | CA383466106 | KCNA5 | c.1262A>G (p.Gln421Arg)
| |
12 | g.5045409A>T | CA383466107 | KCNA5 | c.1262A>T (p.Gln421Leu)
| |
12 | g.5045410G>A | CA478095704 | KCNA5 | c.1263G>A (p.Gln421=)
| |
12 | g.5045410G>C | CA383466108 | KCNA5 | c.1263G>C (p.Gln421His)
| |
12 | g.5045410G>T | CA383466109 | KCNA5 | c.1263G>T (p.Gln421His)
| |
12 | g.5045410_5045411delinsGA | CA2013431226 | KCNA5 | c.1263_1264delinsGA (p.Gln421=)
| |
12 | g.5045411del | CA919011875 | KCNA5 | c.1264del (p.Ile422SerfsTer10)
| dbSNP gnomAD v4 |
12 | g.5045411A>C | CA383466110 | KCNA5 | c.1264A>C (p.Ile422Leu)
| |
12 | g.5045411A>G | CA383466111 | KCNA5 | c.1264A>G (p.Ile422Val)
| |
12 | g.5045411A>T | CA383466112 | KCNA5 | c.1264A>T (p.Ile422Phe)
| |
12 | g.5045412T>A | CA383466115 | KCNA5 | c.1265T>A (p.Ile422Asn)
| |
12 | g.5045412T>C | CA383466113 | KCNA5 | c.1265T>C (p.Ile422Thr)
| |
12 | g.5045412T>G | CA383466114 | KCNA5 | c.1265T>G (p.Ile422Ser)
| |
12 | g.5045413C>A | CA478095706 | KCNA5 | c.1266C>A (p.Ile422=)
| dbSNP gnomAD v2 gnomAD v4 |
12 | g.5045413C= | CA2013431227 | KCNA5 | c.1266C= (p.Ile422=)
| |
12 | g.5045413C>G | CA383466116 | KCNA5 | c.1266C>G (p.Ile422Met)
| gnomAD v4 |
12 | g.5045413C>T | CA478095709 | KCNA5 | c.1266C>T (p.Ile422=)
| gnomAD v4 |
12 | g.5045414C>A | CA383466117 | KCNA5 | c.1267C>A (p.Leu423Met)
| |
12 | g.5045414C= | CA2013431228 | KCNA5 | c.1267C= (p.Leu423=)
| |
12 | g.5045414C>G | CA383466118 | KCNA5 | c.1267C>G (p.Leu423Val)
| dbSNP |
12 | g.5045414C>T | CA478095711 | KCNA5 | c.1267C>T (p.Leu423=)
| |
12 | g.5045415T>A | CA383466119 | KCNA5 | c.1268T>A (p.Leu423Gln)
| |
12 | g.5045415T>C | CA383466120 | KCNA5 | c.1268T>C (p.Leu423Pro)
| |
12 | g.5045415T>G | CA383466121 | KCNA5 | c.1268T>G (p.Leu423Arg)
| |
12 | g.5045416G>A | CA6399837 | KCNA5 | c.1269G>A (p.Leu423=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.5045416G>C | CA478095715 | KCNA5 | c.1269G>C (p.Leu423=)
| gnomAD v4 |
12 | g.5045416G= | CA2013431229 | KCNA5 | c.1269G= (p.Leu423=)
| |
12 | g.5045416G>T | CA478095714 | KCNA5 | c.1269G>T (p.Leu423=)
| |
12 | g.5045417G>A | CA383466122 | KCNA5 | c.1270G>A (p.Gly424Ser)
| |
12 | g.5045417G>C | CA383466123 | KCNA5 | c.1270G>C (p.Gly424Arg)
| |
12 | g.5045417G>T | CA383466124 | KCNA5 | c.1270G>T (p.Gly424Cys)
| |
12 | g.5045418G>A | CA6399838 | KCNA5 | c.1271G>A (p.Gly424Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045418G>C | CA383466126 | KCNA5 | c.1271G>C (p.Gly424Ala)
| |
12 | g.5045418G= | CA2013431230 | KCNA5 | c.1271G= (p.Gly424=)
| |
12 | g.5045418G>T | CA383466125 | KCNA5 | c.1271G>T (p.Gly424Val)
| gnomAD v4 |
12 | g.5045419C>A | CA478095718 | KCNA5 | c.1272C>A (p.Gly424=)
| gnomAD v4 |
12 | g.5045419C>G | CA478095719 | KCNA5 | c.1272C>G (p.Gly424=)
| gnomAD v4 |
12 | g.5045419C>T | CA478095720 | KCNA5 | c.1272C>T (p.Gly424=)
| |
12 | g.5045420A>C | CA383466127 | KCNA5 | c.1273A>C (p.Lys425Gln)
| |
12 | g.5045420A>G | CA383466128 | KCNA5 | c.1273A>G (p.Lys425Glu)
| |
12 | g.5045420A>T | CA383466129 | KCNA5 | c.1273A>T (p.Lys425Ter)
| |
12 | g.5045421A>C | CA383466130 | KCNA5 | c.1274A>C (p.Lys425Thr)
| |
12 | g.5045421A>G | CA383466131 | KCNA5 | c.1274A>G (p.Lys425Arg)
| gnomAD v4 |
12 | g.5045421A>T | CA383466132 | KCNA5 | c.1274A>T (p.Lys425Met)
| |
12 | g.5045422G>A | CA478095724 | KCNA5 | c.1275G>A (p.Lys425=)
| |
12 | g.5045422G>C | CA383466133 | KCNA5 | c.1275G>C (p.Lys425Asn)
| |
12 | g.5045422G>T | CA383466134 | KCNA5 | c.1275G>T (p.Lys425Asn)
| |
12 | g.5045423A>C | CA383466135 | KCNA5 | c.1276A>C (p.Thr426Pro)
| |
12 | g.5045423A>G | CA383466136 | KCNA5 | c.1276A>G (p.Thr426Ala)
| |
12 | g.5045423A>T | CA383466137 | KCNA5 | c.1276A>T (p.Thr426Ser)
| |
12 | g.5045424C>A | CA383466138 | KCNA5 | c.1277C>A (p.Thr426Asn)
| gnomAD v4 |
12 | g.5045424C>G | CA383466139 | KCNA5 | c.1277C>G (p.Thr426Ser)
| |
12 | g.5045424C>T | CA383466140 | KCNA5 | c.1277C>T (p.Thr426Ile)
| gnomAD v4 |
12 | g.5045425C>A | CA478095725 | KCNA5 | c.1278C>A (p.Thr426=)
| |
12 | g.5045425C>G | CA478095726 | KCNA5 | c.1278C>G (p.Thr426=)
| |
12 | g.5045425C>T | CA478095727 | KCNA5 | c.1278C>T (p.Thr426=)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045426T>A | CA383466141 | KCNA5 | c.1279T>A (p.Leu427Met)
| |
12 | g.5045426T>C | CA478095728 | KCNA5 | c.1279T>C (p.Leu427=)
| |
12 | g.5045426T>G | CA383466142 | KCNA5 | c.1279T>G (p.Leu427Val)
| |
12 | g.5045427T>A | CA383466143 | KCNA5 | c.1280T>A (p.Leu427Ter)
| |
12 | g.5045427T>C | CA383466144 | KCNA5 | c.1280T>C (p.Leu427Ser)
| gnomAD v4 |
12 | g.5045427T>G | CA383466145 | KCNA5 | c.1280T>G (p.Leu427Trp)
| |
12 | g.5045428G>A | CA478095729 | KCNA5 | c.1281G>A (p.Leu427=)
| |
12 | g.5045428G>C | CA383466146 | KCNA5 | c.1281G>C (p.Leu427Phe)
| |
12 | g.5045428G= | CA2013431231 | KCNA5 | c.1281G= (p.Leu427=)
| |
12 | g.5045428G>T | CA6399839 | KCNA5 | c.1281G>T (p.Leu427Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045429C>A | CA383466147 | KCNA5 | c.1282C>A (p.Gln428Lys)
| gnomAD v4 |
12 | g.5045429C= | CA2013431232 | KCNA5 | c.1282C= (p.Gln428=)
| |
12 | g.5045429C>G | CA383466148 | KCNA5 | c.1282C>G (p.Gln428Glu)
| |
12 | g.5045429C>T | CA6399840 | KCNA5 | c.1282C>T (p.Gln428Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045430A>C | CA383466149 | KCNA5 | c.1283A>C (p.Gln428Pro)
| |
12 | g.5045430A>G | CA383466150 | KCNA5 | c.1283A>G (p.Gln428Arg)
| |
12 | g.5045430A>T | CA383466151 | KCNA5 | c.1283A>T (p.Gln428Leu)
| |
12 | g.5045431G>A | CA478095730 | KCNA5 | c.1284G>A (p.Gln428=)
| gnomAD v4 |
12 | g.5045431G>C | CA383466152 | KCNA5 | c.1284G>C (p.Gln428His)
| |
12 | g.5045431G>T | CA383466153 | KCNA5 | c.1284G>T (p.Gln428His)
| |
12 | g.5045432G>A | CA231868767 | KCNA5 | c.1285G>A (p.Ala429Thr)
| dbSNP gnomAD v4 COSMIC |
12 | g.5045432G>C | CA383466155 | KCNA5 | c.1285G>C (p.Ala429Pro)
| |
12 | g.5045432G= | CA2013431233 | KCNA5 | c.1285G= (p.Ala429=)
| |
12 | g.5045432G>T | CA383466154 | KCNA5 | c.1285G>T (p.Ala429Ser)
| |
12 | g.5045433C>A | CA383466157 | KCNA5 | c.1286C>A (p.Ala429Asp)
| |
12 | g.5045433C= | CA2013431234 | KCNA5 | c.1286C= (p.Ala429=)
| |
12 | g.5045433C>G | CA383466156 | KCNA5 | c.1286C>G (p.Ala429Gly)
| |
12 | g.5045433C>T | CA6399841 | KCNA5 | c.1286C>T (p.Ala429Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.5045434C>A | CA478095731 | KCNA5 | c.1287C>A (p.Ala429=)
| ClinVar dbSNP |
12 | g.5045434C>G | CA478095732 | KCNA5 | c.1287C>G (p.Ala429=)
| |
12 | g.5045434C>T | CA478095733 | KCNA5 | c.1287C>T (p.Ala429=)
| |
12 | g.5045435T>A | CA383466158 | KCNA5 | c.1288T>A (p.Ser430Thr)
| dbSNP gnomAD v3 gnomAD v4 |
12 | g.5045435T>C | CA383466159 | KCNA5 | c.1288T>C (p.Ser430Pro)
| |
12 | g.5045435T>G | CA383466160 | KCNA5 | c.1288T>G (p.Ser430Ala)
| |
12 | g.5045435T= | CA2013431235 | KCNA5 | c.1288T= (p.Ser430=)
| |
12 | g.5045436C>A | CA383466161 | KCNA5 | c.1289C>A (p.Ser430Tyr)
| |
12 | g.5045436C>G | CA383466162 | KCNA5 | c.1289C>G (p.Ser430Cys)
| |
12 | g.5045436C>T | CA383466163 | KCNA5 | c.1289C>T (p.Ser430Phe)
| |
12 | g.5045437C>A | CA478095736 | KCNA5 | c.1290C>A (p.Ser430=)
| |
12 | g.5045437C>G | CA478095738 | KCNA5 | c.1290C>G (p.Ser430=)
| |
12 | g.5045437C>T | CA478095735 | KCNA5 | c.1290C>T (p.Ser430=)
| |
12 | g.5045438A>C | CA383466164 | KCNA5 | c.1291A>C (p.Met431Leu)
| |
12 | g.5045438A>G | CA383466165 | KCNA5 | c.1291A>G (p.Met431Val)
| |
12 | g.5045438A>T | CA383466166 | KCNA5 | c.1291A>T (p.Met431Leu)
| |