Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.22786671_22786695delinsTGCGGCAGCGGCGGCGGCGGCGGCG | CA2163910583 | NIPA1 | c.15_39delinsTGCGGCAGCGGCGGCGGCGGCGGCG (p.Ala5=) c.-48+12358_-48+12382delinsTGCGGCAGCGGCGGCGGCGGCGGCG (n.-48+12358_-48+12382delinsTGCGGCAGCGGCGGCGGCGGCGGCG) n.31+423_31+447delinsTGCGGCAGCGGCGGCGGCGGCGGCG c.-48+423_-48+447delinsTGCGGCAGCGGCGGCGGCGGCGGCG (n.-48+423_-48+447delinsTGCGGCAGCGGCGGCGGCGGCGGCG) | |
15 | g.22786671_22786698delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG | CA2163910585 | NIPA1 | c.15_42delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG (p.Ala5=) c.-48+12358_-48+12385delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG (n.-48+12358_-48+12385delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG) n.31+423_31+450delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG c.-48+423_-48+450delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG (n.-48+423_-48+450delinsTGCGGCAGCGGCGGCGGCGGCGGCGGCG) | |
15 | g.22786677_22786691dup | CA2627249030 | NIPA1 | c.21_35dup (p.Ala12_Ala13insAlaAlaAlaAlaAla) c.-48+12364_-48+12378dup (n.-48+12364_-48+12378dup) n.31+429_31+443dup c.-48+429_-48+443dup (n.-48+429_-48+443dup) | gnomAD v4 |
15 | g.22786677_22786691del | CA267581017 | NIPA1 | c.21_35del (p.Ala8_Ala12del) c.-48+12364_-48+12378del (n.-48+12364_-48+12378del) n.31+429_31+443del c.-48+429_-48+443del (n.-48+429_-48+443del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786677_22786694dup | CA967611909 | NIPA1 | c.21_38dup (p.Ala13_Ala14insAlaAlaAlaAlaAlaAla) c.-48+12364_-48+12381dup (n.-48+12364_-48+12381dup) n.31+429_31+446dup c.-48+429_-48+446dup (n.-48+429_-48+446dup) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786677_22786694del | CA617083349 | NIPA1 | c.21_38del (p.Ala8_Ala13del) c.-48+12364_-48+12381del (n.-48+12364_-48+12381del) n.31+429_31+446del c.-48+429_-48+446del (n.-48+429_-48+446del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786677_22786697del | CA2531637112 | NIPA1 | c.21_41del (p.Ala8_Ala14del) c.-48+12364_-48+12384del (n.-48+12364_-48+12384del) n.31+429_31+449del c.-48+429_-48+449del (n.-48+429_-48+449del) | gnomAD v4 |
15 | g.22786677_22786700del | CA617083343 | NIPA1 | c.21_44del (p.Ala8_Ala15del) c.-48+12364_-48+12387del (n.-48+12364_-48+12387del) n.31+429_31+452del c.-48+429_-48+452del (n.-48+429_-48+452del) | dbSNP gnomAD v2 |
15 | g.22786677_22786703del | CA967611905 | NIPA1 | c.21_47del (p.Ala8_Ala16del) c.-48+12364_-48+12390del (n.-48+12364_-48+12390del) n.31+429_31+455del c.-48+429_-48+455del (n.-48+429_-48+455del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786677_22786698delinsAGCGGCGGCGGCGGCGGCGGCG | CA2163910595 | NIPA1 | c.21_42delinsAGCGGCGGCGGCGGCGGCGGCG (p.Ala7=) c.-48+12364_-48+12385delinsAGCGGCGGCGGCGGCGGCGGCG (n.-48+12364_-48+12385delinsAGCGGCGGCGGCGGCGGCGGCG) n.31+429_31+450delinsAGCGGCGGCGGCGGCGGCGGCG c.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGGCG (n.-48+429_-48+450delinsAGCGGCGGCGGCGGCGGCGGCG) | |
15 | g.22786703_22786704insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC | CA2163910597 | NIPA1 | c.47_48insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC (p.Ala16_Gly17insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) c.-48+12390_-48+12391insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC (n.-48+12390_-48+12391insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC) n.31+455_31+456insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC c.-48+455_-48+456insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC (n.-48+455_-48+456insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC) | ClinVar dbSNP |
15 | g.22786701_22786703dup | CA7426230 | NIPA1 | c.45_47dup (p.Ala16_Gly17insAla) c.-48+12388_-48+12390dup (n.-48+12388_-48+12390dup) n.31+453_31+455dup c.-48+453_-48+455dup (n.-48+453_-48+455dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786698_22786703dup | CA200624 | NIPA1 | c.42_47dup (p.Ala16_Gly17insAlaAla) c.-48+12385_-48+12390dup (n.-48+12385_-48+12390dup) n.31+450_31+455dup c.-48+450_-48+455dup (n.-48+450_-48+455dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786695_22786703dup | CA617083351 | NIPA1 | c.39_47dup (p.Ala16_Gly17insAlaAlaAla) c.-48+12382_-48+12390dup (n.-48+12382_-48+12390dup) n.31+447_31+455dup c.-48+447_-48+455dup (n.-48+447_-48+455dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786692_22786703dup | CA711208614 | NIPA1 | c.36_47dup (p.Ala16_Gly17insAlaAlaAlaAla) c.-48+12379_-48+12390dup (n.-48+12379_-48+12390dup) n.31+444_31+455dup c.-48+444_-48+455dup (n.-48+444_-48+455dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786689_22786703dup | CA2627249060 | NIPA1 | c.33_47dup (p.Ala16_Gly17insAlaAlaAlaAlaAla) c.-48+12376_-48+12390dup (n.-48+12376_-48+12390dup) n.31+441_31+455dup c.-48+441_-48+455dup (n.-48+441_-48+455dup) | gnomAD v4 |
15 | g.22786686_22786703dup | CA967611950 | NIPA1 | c.30_47dup (p.Ala16_Gly17insAlaAlaAlaAlaAlaAla) c.-48+12373_-48+12390dup (n.-48+12373_-48+12390dup) n.31+438_31+455dup c.-48+438_-48+455dup (n.-48+438_-48+455dup) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786701_22786703del | CA200621 | NIPA1 | c.45_47del (p.Ala16del) c.-48+12388_-48+12390del (n.-48+12388_-48+12390del) n.31+453_31+455del c.-48+453_-48+455del (n.-48+453_-48+455del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.22786698_22786703del | CA16614576 | NIPA1 | c.42_47del (p.Ala15_Ala16del) c.-48+12385_-48+12390del (n.-48+12385_-48+12390del) n.31+450_31+455del c.-48+450_-48+455del (n.-48+450_-48+455del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786695_22786703del | CA7426228 | NIPA1 | c.39_47del (p.Ala14_Ala16del) c.-48+12382_-48+12390del (n.-48+12382_-48+12390del) n.31+447_31+455del c.-48+447_-48+455del (n.-48+447_-48+455del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786692_22786703del | CA488751766 | NIPA1 | c.36_47del (p.Ala13_Ala16del) c.-48+12379_-48+12390del (n.-48+12379_-48+12390del) n.31+444_31+455del c.-48+444_-48+455del (n.-48+444_-48+455del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786689_22786703del | CA7426229 | NIPA1 | c.33_47del (p.Ala12_Ala16del) c.-48+12376_-48+12390del (n.-48+12376_-48+12390del) n.31+441_31+455del c.-48+441_-48+455del (n.-48+441_-48+455del) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.22786686_22786703del | CA967611939 | NIPA1 | c.30_47del (p.Ala11_Ala16del) c.-48+12373_-48+12390del (n.-48+12373_-48+12390del) n.31+438_31+455del c.-48+438_-48+455del (n.-48+438_-48+455del) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.22786683_22786703del | CA7426227 | NIPA1 | c.27_47del (p.Ala10_Ala16del) c.-48+12370_-48+12390del (n.-48+12370_-48+12390del) n.31+435_31+455del c.-48+435_-48+455del (n.-48+435_-48+455del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.22786691_22786692insAGCGGCGGCGGC | CA2627249073 | NIPA1 | c.35_36insAGCGGCGGCGGC (p.Ala12_Ala13insAlaAlaAlaAla) c.-48+12378_-48+12379insAGCGGCGGCGGC (n.-48+12378_-48+12379insAGCGGCGGCGGC) n.31+443_31+444insAGCGGCGGCGGC c.-48+443_-48+444insAGCGGCGGCGGC (n.-48+443_-48+444insAGCGGCGGCGGC) | gnomAD v4 |
15 | g.22786692_22786693insTCGGCG | CA2627249088 | NIPA1 | c.36_37insTCGGCG (p.Ala12_Ala13insSerAla) c.-48+12379_-48+12380insTCGGCG (n.-48+12379_-48+12380insTCGGCG) n.31+444_31+445insTCGGCG c.-48+444_-48+445insTCGGCG (n.-48+444_-48+445insTCGGCG) | gnomAD v4 |
15 | g.22786689_22786690del | CA2627249090 | NIPA1 | c.33_34del (p.Ala12GlyfsTer10) c.-48+12376_-48+12377del (n.-48+12376_-48+12377del) n.31+441_31+442del c.-48+441_-48+442del (n.-48+441_-48+442del) | gnomAD v4 |
15 | g.22786693_22786694insTGGCGG | CA2627249089 | NIPA1 | c.37_38insTGGCGG (p.Ala12_Ala13insValAla) c.-48+12380_-48+12381insTGGCGG (n.-48+12380_-48+12381insTGGCGG) n.31+445_31+446insTGGCGG c.-48+445_-48+446insTGGCGG (n.-48+445_-48+446insTGGCGG) | gnomAD v4 |
15 | g.22786696_22786697insGGGCGGCGG | CA2562627591 | NIPA1 | c.40_41insGGGCGGCGG (p.Ala13_Ala14insGlyAlaAla) c.-48+12383_-48+12384insGGGCGGCGG (n.-48+12383_-48+12384insGGGCGGCGG) n.31+448_31+449insGGGCGGCGG c.-48+448_-48+449insGGGCGGCGG (n.-48+448_-48+449insGGGCGGCGG) | |
15 | g.22786690G>A | CA391298281 | NIPA1 | c.34G>A (p.Ala12Thr) c.-48+12377G>A (n.-48+12377G>A) n.31+442G>A c.-48+442G>A (n.-48+442G>A) | ClinVar gnomAD v4 |
15 | g.22786690G>C | CA391298275 | NIPA1 | c.34G>C (p.Ala12Pro) c.-48+12377G>C (n.-48+12377G>C) n.31+442G>C c.-48+442G>C (n.-48+442G>C) | gnomAD v4 |
15 | g.22786690G>T | CA391298278 | NIPA1 | c.34G>T (p.Ala12Ser) c.-48+12377G>T (n.-48+12377G>T) n.31+442G>T c.-48+442G>T (n.-48+442G>T) | gnomAD v4 |
15 | g.22786691del | CA2627249091 | NIPA1 | c.35del (p.Ala12GlyfsTer30) c.-48+12378del (n.-48+12378del) n.31+443del c.-48+443del (n.-48+443del) | gnomAD v4 |
15 | g.22786691C>A | CA391298283 | NIPA1 | c.35C>A (p.Ala12Glu) c.-48+12378C>A (n.-48+12378C>A) n.31+443C>A c.-48+443C>A (n.-48+443C>A) | gnomAD v4 |
15 | g.22786691C= | CA2163910608 | NIPA1 | c.35C= (p.Ala12=) c.-48+12378C= (n.-48+12378C=) n.31+443C= c.-48+443C= (n.-48+443C=) | |
15 | g.22786691C>G | CA391298285 | NIPA1 | c.35C>G (p.Ala12Gly) c.-48+12378C>G (n.-48+12378C>G) n.31+443C>G c.-48+443C>G (n.-48+443C>G) | dbSNP gnomAD v4 |
15 | g.22786691C>T | CA391298288 | NIPA1 | c.35C>T (p.Ala12Val) c.-48+12378C>T (n.-48+12378C>T) n.31+443C>T c.-48+443C>T (n.-48+443C>T) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.22786694_22786706del | CA2627249092 | NIPA1 | c.38_50del (p.Ala13GlyfsTer25) c.-48+12381_-48+12393del (n.-48+12381_-48+12393del) n.31+446_31+458del c.-48+446_-48+458del (n.-48+446_-48+458del) | gnomAD v4 |
15 | g.22786692G>A | CA488751904 | NIPA1 | c.36G>A (p.Ala12=) c.-48+12379G>A (n.-48+12379G>A) n.31+444G>A c.-48+444G>A (n.-48+444G>A) | dbSNP gnomAD v4 |
15 | g.22786692G>C | CA488751902 | NIPA1 | c.36G>C (p.Ala12=) c.-48+12379G>C (n.-48+12379G>C) n.31+444G>C c.-48+444G>C (n.-48+444G>C) | |
15 | g.22786692G= | CA2163910609 | NIPA1 | c.36G= (p.Ala12=) c.-48+12379G= (n.-48+12379G=) n.31+444G= c.-48+444G= (n.-48+444G=) | |
15 | g.22786692G>T | CA488751899 | NIPA1 | c.36G>T (p.Ala12=) c.-48+12379G>T (n.-48+12379G>T) n.31+444G>T c.-48+444G>T (n.-48+444G>T) | gnomAD v4 |
15 | g.22786693_22786694insTGG | CA2627249093 | NIPA1 | c.37_38insTGG (p.Ala12_Ala13insVal) c.-48+12380_-48+12381insTGG (n.-48+12380_-48+12381insTGG) n.31+445_31+446insTGG c.-48+445_-48+446insTGG (n.-48+445_-48+446insTGG) | gnomAD v4 |
15 | g.22786693del | CA2627249095 | NIPA1 | c.37del (p.Ala13ArgfsTer29) c.-48+12380del (n.-48+12380del) n.31+445del c.-48+445del (n.-48+445del) | gnomAD v4 |
15 | g.22786696_22786697insTGGCGG | CA2627249094 | NIPA1 | c.40_41insTGGCGG (p.Ala13_Ala14insValAla) c.-48+12383_-48+12384insTGGCGG (n.-48+12383_-48+12384insTGGCGG) n.31+448_31+449insTGGCGG c.-48+448_-48+449insTGGCGG (n.-48+448_-48+449insTGGCGG) | dbSNP gnomAD v4 |
15 | g.22786693G>A | CA391298291 | NIPA1 | c.37G>A (p.Ala13Thr) c.-48+12380G>A (n.-48+12380G>A) n.31+445G>A c.-48+445G>A (n.-48+445G>A) | gnomAD v4 |
15 | g.22786693G>C | CA391298293 | NIPA1 | c.37G>C (p.Ala13Pro) c.-48+12380G>C (n.-48+12380G>C) n.31+445G>C c.-48+445G>C (n.-48+445G>C) | gnomAD v4 |
15 | g.22786693G>T | CA391298296 | NIPA1 | c.37G>T (p.Ala13Ser) c.-48+12380G>T (n.-48+12380G>T) n.31+445G>T c.-48+445G>T (n.-48+445G>T) | gnomAD v4 |
15 | g.22786694_22786705del | CA2627249096 | NIPA1 | c.38_49del (p.Ala13_Ala16del) c.-48+12381_-48+12392del (n.-48+12381_-48+12392del) n.31+446_31+457del c.-48+446_-48+457del (n.-48+446_-48+457del) | gnomAD v4 |
15 | g.22786694del | CA2627249097 | NIPA1 | c.38del (p.Ala13GlyfsTer29) c.-48+12381del (n.-48+12381del) n.31+446del c.-48+446del (n.-48+446del) | dbSNP gnomAD v4 |