Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del | ClinVar |
17 | g.80107612_80107623del | CA2640279336 | GAA | c.748_759del (p.Thr250_Pro253del) | gnomAD v4 |
17 | g.80107619_80107627del | CA2640279352 | GAA | c.755_763del (p.Leu252_Ser254del) | gnomAD v4 |
17 | g.80107616C>A | CA401363310 | GAA | c.752C>A (p.Ser251Ter) | |
17 | g.80107616C= | CA2277812259 | GAA | c.752C= (p.Ser251=) | |
17 | g.80107616C>G | CA401363312 | GAA | c.752C>G (p.Ser251Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80107616C>T | CA8815007 | GAA | c.752C>T (p.Ser251Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.[80107616C>T;80107625C>T] | CA2573102892 | GAA | c.[752C>T;761C>T] (p.[Ser251Leu;Ser254Leu]) | ClinVar |
17 | g.80107616_80107625delinsTGCTGCCCTT | CA2695227069 | GAA | c.752_761delinsTGCTGCCCTT (p.Ser251_Ser254delinsLeuLeuProLeu) | |
17 | g.80107617G>A | CA8815008 | GAA | c.753G>A (p.Ser251=) | ClinVar dbSNP ExAC gnomAD v4 |
17 | g.80107617G>C | CA502402622 | GAA | c.753G>C (p.Ser251=) | |
17 | g.80107617G= | CA2277812260 | GAA | c.753G= (p.Ser251=) | |
17 | g.80107617G>T | CA502402625 | GAA | c.753G>T (p.Ser251=) | ClinVar dbSNP |
17 | g.80107618C>A | CA401363320 | GAA | c.754C>A (p.Leu252Met) | |
17 | g.80107618C= | CA2277812261 | GAA | c.754C= (p.Leu252=) | |
17 | g.80107618C>G | CA401363323 | GAA | c.754C>G (p.Leu252Val) | |
17 | g.80107618C>T | CA502402627 | GAA | c.754C>T (p.Leu252=) | ClinVar dbSNP gnomAD v4 |
17 | g.80107618dup | CA913014090 | GAA | c.754dup (p.Leu252ProfsTer?) | |
17 | g.80107619T>A | CA401363329 | GAA | c.755T>A (p.Leu252Gln) | |
17 | g.80107619T>C | CA401363327 | GAA | c.755T>C (p.Leu252Pro) | |
17 | g.80107619T>G | CA401363326 | GAA | c.755T>G (p.Leu252Arg) | |
17 | g.80107619dup | CA658824779 | GAA | c.755dup (p.Pro253AlafsTer?) | ClinVar dbSNP |
17 | g.80107620G>A | CA502402628 | GAA | c.756G>A (p.Leu252=) | ClinVar gnomAD v4 |
17 | g.80107620G>C | CA502402629 | GAA | c.756G>C (p.Leu252=) | |
17 | g.80107620G>T | CA502402630 | GAA | c.756G>T (p.Leu252=) | |
17 | g.80107620_80107621delinsGC | CA2277812262 | GAA | c.756_757delinsGC (p.Leu252=) | |
17 | g.80107620_80107621insT | CA2695227070 | GAA | c.756_757insT (p.Pro253SerfsTer?) | |
17 | g.80107621C>A | CA401363333 | GAA | c.757C>A (p.Pro253Thr) | |
17 | g.80107621C>G | CA401363335 | GAA | c.757C>G (p.Pro253Ala) | |
17 | g.80107621C>T | CA401363337 | GAA | c.757C>T (p.Pro253Ser) | ClinVar dbSNP gnomAD v4 |
17 | g.80107623del | CA916082438 | GAA | c.759del (p.Ser254ArgfsTer14) | ClinVar dbSNP gnomAD v4 |
17 | g.80107622C>A | CA401363342 | GAA | c.758C>A (p.Pro253His) | gnomAD v4 |
17 | g.80107622C= | CA2277812263 | GAA | c.758C= (p.Pro253=) | |
17 | g.80107622C>G | CA401363344 | GAA | c.758C>G (p.Pro253Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107622C>T | CA401363346 | GAA | c.758C>T (p.Pro253Leu) | |
17 | g.80107623_80107627del | CA2499225002 | GAA | c.759_763del (p.Ser254ValfsTer?) | dbSNP |
17 | g.80107623C>A | CA502402633 | GAA | c.759C>A (p.Pro253=) | |
17 | g.80107623C= | CA2277812264 | GAA | c.759C= (p.Pro253=) | |
17 | g.80107623C>G | CA502402634 | GAA | c.759C>G (p.Pro253=) | |
17 | g.80107623C>T | CA502402635 | GAA | c.759C>T (p.Pro253=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80107624T>A | CA401363351 | GAA | c.760T>A (p.Ser254Thr) | |
17 | g.80107624T>C | CA401363355 | GAA | c.760T>C (p.Ser254Pro) | |
17 | g.80107624T>G | CA401363356 | GAA | c.760T>G (p.Ser254Ala) | |
17 | g.80107625C>A | CA401363360 | GAA | c.761C>A (p.Ser254Ter) | |
17 | g.80107625C= | CA2277812265 | GAA | c.761C= (p.Ser254=) | |
17 | g.80107625C>G | CA401363363 | GAA | c.761C>G (p.Ser254Trp) | gnomAD v4 |
17 | g.80107625C>T | CA8815009 | GAA | c.761C>T (p.Ser254Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.80107626G>A | CA8815010 | GAA | c.762G>A (p.Ser254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80107626G>C | CA502402638 | GAA | c.762G>C (p.Ser254=) | gnomAD v4 |
17 | g.80107626G= | CA2277812266 | GAA | c.762G= (p.Ser254=) |