| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.120650707_120650776del | CA2667172155 | HGD | c.434+3_434+72del c.311+3_311+72del c.65+3_65+72del c.11+3_11+72del | gnomAD v4 |
| 3 | g.120650738_120650795delinsGATGGGCATGTCCTTCCCTAGAACTGAGCCACTTACCTGTTCTCCATGGAGGTATTGC | CA1397098521 | HGD | c.413_434+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.290_311+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.44_65+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC c.-11_11+36delinsGCAATACCTCCATGGAGAACAGGTAAGTGGCTCAGTTCTAGGGAAGGACATGCCCATC | |
| 3 | g.120650740_120650796del | CA545609526 | HGD | c.413_434+35del c.290_311+35del c.44_65+35del c.-11_11+35del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.120650762T>C | CA897920566 | HGD | c.434+12A>G (n.434+12A>G) c.311+12A>G (n.311+12A>G) c.65+12A>G (n.65+12A>G) c.11+12A>G (n.11+12A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.120650762T>G | CA2667172200 | HGD | c.434+12A>C (n.434+12A>C) c.311+12A>C (n.311+12A>C) c.65+12A>C (n.65+12A>C) c.11+12A>C (n.11+12A>C) | gnomAD v4 |
| 3 | g.120650762T= | CA1397098537 | HGD | c.434+12A= (n.434+12A=) c.311+12A= (n.311+12A=) c.65+12A= (n.65+12A=) c.11+12A= (n.11+12A=) | |
| 3 | g.120650763G>A | CA1397098539 | HGD | c.434+11C>T (n.434+11C>T) c.311+11C>T (n.311+11C>T) c.65+11C>T (n.65+11C>T) c.11+11C>T (n.11+11C>T) | dbSNP gnomAD v4 |
| 3 | g.120650763G= | CA1397098538 | HGD | c.434+11C= (n.434+11C=) c.311+11C= (n.311+11C=) c.65+11C= (n.65+11C=) c.11+11C= (n.11+11C=) | |
| 3 | g.120650763G>T | CA2667172201 | HGD | c.434+11C>A (n.434+11C>A) c.311+11C>A (n.311+11C>A) c.65+11C>A (n.65+11C>A) c.11+11C>A (n.11+11C>A) | gnomAD v4 |
| 3 | g.120650765G>A | CA2560214 | HGD | c.434+9C>T (n.434+9C>T) c.311+9C>T (n.311+9C>T) c.65+9C>T (n.65+9C>T) c.11+9C>T (n.11+9C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.120650765G= | CA1397098541 | HGD | c.434+9C= (n.434+9C=) c.311+9C= (n.311+9C=) c.65+9C= (n.65+9C=) c.11+9C= (n.11+9C=) | |
| 3 | g.120650765G>T | CA1397098540 | HGD | c.434+9C>A (n.434+9C>A) c.311+9C>A (n.311+9C>A) c.65+9C>A (n.65+9C>A) c.11+9C>A (n.11+9C>A) | dbSNP gnomAD v4 |
| 3 | g.120650766C>A | CA2560215 | HGD | c.434+8G>T (n.434+8G>T) c.311+8G>T (n.311+8G>T) c.65+8G>T (n.65+8G>T) c.11+8G>T (n.11+8G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.120650766C= | CA1397098542 | HGD | c.434+8G= (n.434+8G=) c.311+8G= (n.311+8G=) c.65+8G= (n.65+8G=) c.11+8G= (n.11+8G=) | |
| 3 | g.120650772A>C | CA354077960 | HGD | c.434+2T>G (n.434+2T>G) c.311+2T>G (n.311+2T>G) c.65+2T>G (n.65+2T>G) c.11+2T>G (n.11+2T>G) | |
| 3 | g.120650772A>G | CA354077961 | HGD | c.434+2T>C (n.434+2T>C) c.311+2T>C (n.311+2T>C) c.65+2T>C (n.65+2T>C) c.11+2T>C (n.11+2T>C) | |
| 3 | g.120650772A>T | CA354077962 | HGD | c.434+2T>A (n.434+2T>A) c.311+2T>A (n.311+2T>A) c.65+2T>A (n.65+2T>A) c.11+2T>A (n.11+2T>A) | |
| 3 | g.120650773C>A | CA354077965 | HGD | c.434+1G>T (n.434+1G>T) c.311+1G>T (n.311+1G>T) c.65+1G>T (n.65+1G>T) c.11+1G>T (n.11+1G>T) | |
| 3 | g.120650773C>G | CA354077964 | HGD | c.434+1G>C (n.434+1G>C) c.311+1G>C (n.311+1G>C) c.65+1G>C (n.65+1G>C) c.11+1G>C (n.11+1G>C) | |
| 3 | g.120650773C>T | CA354077963 | HGD | c.434+1G>A (n.434+1G>A) c.311+1G>A (n.311+1G>A) c.65+1G>A (n.65+1G>A) c.11+1G>A (n.11+1G>A) | gnomAD v4 |
| 3 | g.120650774del | CA2580068607 | HGD | c.434+1del c.311+1del c.65+1del c.11+1del | ClinVar |
| 3 | g.120650774C>A | CA354077966 | HGD | c.434G>T (p.Arg145Ile) c.311G>T (p.Arg104Ile) c.65G>T (p.Arg22Ile) c.11G>T (p.Arg4Ile) | |
| 3 | g.120650774C>G | CA354077967 | HGD | c.434G>C (p.Arg145Thr) c.311G>C (p.Arg104Thr) c.65G>C (p.Arg22Thr) c.11G>C (p.Arg4Thr) | |
| 3 | g.120650774C>T | CA354077968 | HGD | c.434G>A (p.Arg145Lys) c.311G>A (p.Arg104Lys) c.65G>A (p.Arg22Lys) c.11G>A (p.Arg4Lys) | gnomAD v4 |
| 3 | g.120650775T>A | CA354077969 | HGD | c.433A>T (p.Arg145Ter) c.310A>T (p.Arg104Ter) c.64A>T (p.Arg22Ter) c.10A>T (p.Arg4Ter) | ClinVar |
| 3 | g.120650775T>C | CA354077970 | HGD | c.433A>G (p.Arg145Gly) c.310A>G (p.Arg104Gly) c.64A>G (p.Arg22Gly) c.10A>G (p.Arg4Gly) | |
| 3 | g.120650775T>G | CA435228330 | HGD | c.433A>C (p.Arg145=) c.310A>C (p.Arg104=) c.64A>C (p.Arg22=) c.10A>C (p.Arg4=) | |
| 3 | g.120650776G>A | CA435228331 | HGD | c.432C>T (p.Asn144=) c.309C>T (p.Asn103=) c.63C>T (p.Asn21=) c.9C>T (p.Asn3=) | |
| 3 | g.120650776G>C | CA354077971 | HGD | c.432C>G (p.Asn144Lys) c.309C>G (p.Asn103Lys) c.63C>G (p.Asn21Lys) c.9C>G (p.Asn3Lys) | |
| 3 | g.120650776G>T | CA354077972 | HGD | c.432C>A (p.Asn144Lys) c.309C>A (p.Asn103Lys) c.63C>A (p.Asn21Lys) c.9C>A (p.Asn3Lys) | |
| 3 | g.120650777T>A | CA354077973 | HGD | c.431A>T (p.Asn144Ile) c.308A>T (p.Asn103Ile) c.62A>T (p.Asn21Ile) c.8A>T (p.Asn3Ile) | |
| 3 | g.120650777T>C | CA354077974 | HGD | c.431A>G (p.Asn144Ser) c.308A>G (p.Asn103Ser) c.62A>G (p.Asn21Ser) c.8A>G (p.Asn3Ser) | |
| 3 | g.120650777T>G | CA354077975 | HGD | c.431A>C (p.Asn144Thr) c.308A>C (p.Asn103Thr) c.62A>C (p.Asn21Thr) c.8A>C (p.Asn3Thr) | |
| 3 | g.120650778T>A | CA354077976 | HGD | c.430A>T (p.Asn144Tyr) c.307A>T (p.Asn103Tyr) c.61A>T (p.Asn21Tyr) c.7A>T (p.Asn3Tyr) | |
| 3 | g.120650778T>C | CA354077977 | HGD | c.430A>G (p.Asn144Asp) c.307A>G (p.Asn103Asp) c.61A>G (p.Asn21Asp) c.7A>G (p.Asn3Asp) | |
| 3 | g.120650778T>G | CA354077978 | HGD | c.430A>C (p.Asn144His) c.307A>C (p.Asn103His) c.61A>C (p.Asn21His) c.7A>C (p.Asn3His) | |
| 3 | g.120650779C>A | CA354077979 | HGD | c.429G>T (p.Glu143Asp) c.306G>T (p.Glu102Asp) c.60G>T (p.Glu20Asp) c.6G>T (p.Glu2Asp) | |
| 3 | g.120650779C>G | CA354077980 | HGD | c.429G>C (p.Glu143Asp) c.306G>C (p.Glu102Asp) c.60G>C (p.Glu20Asp) c.6G>C (p.Glu2Asp) | |
| 3 | g.120650779C>T | CA435228332 | HGD | c.429G>A (p.Glu143=) c.306G>A (p.Glu102=) c.60G>A (p.Glu20=) c.6G>A (p.Glu2=) | gnomAD v4 |
| 3 | g.120650780T>A | CA354077981 | HGD | c.428A>T (p.Glu143Val) c.305A>T (p.Glu102Val) c.59A>T (p.Glu20Val) c.5A>T (p.Glu2Val) | |
| 3 | g.120650780T>C | CA354077983 | HGD | c.428A>G (p.Glu143Gly) c.305A>G (p.Glu102Gly) c.59A>G (p.Glu20Gly) c.5A>G (p.Glu2Gly) | |
| 3 | g.120650780T>G | CA354077982 | HGD | c.428A>C (p.Glu143Ala) c.305A>C (p.Glu102Ala) c.59A>C (p.Glu20Ala) c.5A>C (p.Glu2Ala) | |
| 3 | g.120650781C>A | CA354077984 | HGD | c.427G>T (p.Glu143Ter) c.304G>T (p.Glu102Ter) c.58G>T (p.Glu20Ter) c.4G>T (p.Glu2Ter) | |
| 3 | g.120650781C>G | CA354077985 | HGD | c.427G>C (p.Glu143Gln) c.304G>C (p.Glu102Gln) c.58G>C (p.Glu20Gln) c.4G>C (p.Glu2Gln) | |
| 3 | g.120650781C>T | CA354077986 | HGD | c.427G>A (p.Glu143Lys) c.304G>A (p.Glu102Lys) c.58G>A (p.Glu20Lys) c.4G>A (p.Glu2Lys) | |
| 3 | g.120650782C>A | CA354077987 | HGD | c.426G>T (p.Met142Ile) c.303G>T (p.Met101Ile) c.57G>T (p.Met19Ile) c.3G>T (p.Met1Ile) | |
| 3 | g.120650782C>G | CA354077988 | HGD | c.426G>C (p.Met142Ile) c.303G>C (p.Met101Ile) c.57G>C (p.Met19Ile) c.3G>C (p.Met1Ile) | |
| 3 | g.120650782C>T | CA354077989 | HGD | c.426G>A (p.Met142Ile) c.303G>A (p.Met101Ile) c.57G>A (p.Met19Ile) c.3G>A (p.Met1Ile) | |
| 3 | g.120650783A= | CA1397098543 | HGD | c.425T= (p.Met142=) c.302T= (p.Met101=) c.56T= (p.Met19=) c.2T= (p.Met1=) | |
| 3 | g.120650783A>C | CA354077990 | HGD | c.425T>G (p.Met142Arg) c.302T>G (p.Met101Arg) c.56T>G (p.Met19Arg) c.2T>G (p.Met1Arg) |