Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.130452176dup | CA2692119258 | ASS1 | c.-5-48dup (n.-5-48dup) c.110-48dup (n.110-48dup) c.92-48dup (n.92-48dup) | gnomAD v4 |
9 | g.130452176del | CA2579483300 | ASS1 | c.-5-48del (n.-5-48del) c.110-48del (n.110-48del) c.92-48del (n.92-48del) | gnomAD v4 |
9 | g.130452172G>A | CA2579483301 | ASS1 | c.-5-52G>A (n.-5-52G>A) c.110-52G>A (n.110-52G>A) c.92-52G>A (n.92-52G>A) | |
9 | g.130452173G>A | CA1881244346 | ASS1 | c.-5-51G>A (n.-5-51G>A) c.110-51G>A (n.110-51G>A) c.92-51G>A (n.92-51G>A) | dbSNP |
9 | g.130452173G>C | CA2692119260 | ASS1 | c.-5-51G>C (n.-5-51G>C) c.110-51G>C (n.110-51G>C) c.92-51G>C (n.92-51G>C) | gnomAD v4 |
9 | g.130452173G= | CA1881244344 | ASS1 | c.-5-51G= (n.-5-51G=) c.110-51G= (n.110-51G=) c.92-51G= (n.92-51G=) | |
9 | g.130452174G>A | CA200603375 | ASS1 | c.-5-50G>A (n.-5-50G>A) c.110-50G>A (n.110-50G>A) c.92-50G>A (n.92-50G>A) | dbSNP gnomAD v4 |
9 | g.130452174G= | CA1881244347 | ASS1 | c.-5-50G= (n.-5-50G=) c.110-50G= (n.110-50G=) c.92-50G= (n.92-50G=) | |
9 | g.130452176G>A | CA860467192 | ASS1 | c.-5-48G>A (n.-5-48G>A) c.110-48G>A (n.110-48G>A) c.92-48G>A (n.92-48G>A) | dbSNP gnomAD v4 |
9 | g.130452176G>C | CA1881244352 | ASS1 | c.-5-48G>C (n.-5-48G>C) c.110-48G>C (n.110-48G>C) c.92-48G>C (n.92-48G>C) | dbSNP |
9 | g.130452176G= | CA1881244350 | ASS1 | c.-5-48G= (n.-5-48G=) c.110-48G= (n.110-48G=) c.92-48G= (n.92-48G=) | |
9 | g.130452177C>A | CA2579483302 | ASS1 | c.-5-47C>A (n.-5-47C>A) c.110-47C>A (n.110-47C>A) c.92-47C>A (n.92-47C>A) | gnomAD v4 |
9 | g.130452177C= | CA1881244354 | ASS1 | c.-5-47C= (n.-5-47C=) c.110-47C= (n.110-47C=) c.92-47C= (n.92-47C=) | |
9 | g.130452177C>G | CA2692119261 | ASS1 | c.-5-47C>G (n.-5-47C>G) c.110-47C>G (n.110-47C>G) c.92-47C>G (n.92-47C>G) | gnomAD v4 |
9 | g.130452177C>T | CA590703547 | ASS1 | c.-5-47C>T (n.-5-47C>T) c.110-47C>T (n.110-47C>T) c.92-47C>T (n.92-47C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452178_130452179dup | CA590703546 | ASS1 | c.-5-46_-5-45dup (n.-5-46_-5-45dup) c.110-46_110-45dup (n.110-46_110-45dup) c.92-46_92-45dup (n.92-46_92-45dup) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452178A= | CA1881244357 | ASS1 | c.-5-46A= (n.-5-46A=) c.110-46A= (n.110-46A=) c.92-46A= (n.92-46A=) | |
9 | g.130452178A>C | CA1881244358 | ASS1 | c.-5-46A>C (n.-5-46A>C) c.110-46A>C (n.110-46A>C) c.92-46A>C (n.92-46A>C) | dbSNP |
9 | g.130452178A>G | CA2692119262 | ASS1 | c.-5-46A>G (n.-5-46A>G) c.110-46A>G (n.110-46A>G) c.92-46A>G (n.92-46A>G) | gnomAD v4 |
9 | g.130452180T>C | CA2692119263 | ASS1 | c.-5-44T>C (n.-5-44T>C) c.110-44T>C (n.110-44T>C) c.92-44T>C (n.92-44T>C) | gnomAD v4 |
9 | g.130452181G>A | CA1881244361 | ASS1 | c.-5-43G>A (n.-5-43G>A) c.110-43G>A (n.110-43G>A) c.92-43G>A (n.92-43G>A) | dbSNP gnomAD v4 |
9 | g.130452181G= | CA1881244360 | ASS1 | c.-5-43G= (n.-5-43G=) c.110-43G= (n.110-43G=) c.92-43G= (n.92-43G=) | |
9 | g.130452182del | CA2579483303 | ASS1 | c.-5-42del (n.-5-42del) c.110-42del (n.110-42del) c.92-42del (n.92-42del) | |
9 | g.130452182G>A | CA2692119264 | ASS1 | c.-5-42G>A (n.-5-42G>A) c.110-42G>A (n.110-42G>A) c.92-42G>A (n.92-42G>A) | gnomAD v4 |
9 | g.130452182G>C | CA2720717353 | ASS1 | c.-5-42G>C (n.-5-42G>C) c.110-42G>C (n.110-42G>C) c.92-42G>C (n.92-42G>C) | dbSNP |
9 | g.130452183C>A | CA2579483304 | ASS1 | c.-5-41C>A (n.-5-41C>A) c.110-41C>A (n.110-41C>A) c.92-41C>A (n.92-41C>A) | gnomAD v4 |
9 | g.130452183C= | CA1881244363 | ASS1 | c.-5-41C= (n.-5-41C=) c.110-41C= (n.110-41C=) c.92-41C= (n.92-41C=) | |
9 | g.130452183C>T | CA5283111 | ASS1 | c.-5-41C>T (n.-5-41C>T) c.110-41C>T (n.110-41C>T) c.92-41C>T (n.92-41C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452184T>A | CA2720717356 | ASS1 | c.-5-40T>A (n.-5-40T>A) c.110-40T>A (n.110-40T>A) c.92-40T>A (n.92-40T>A) | dbSNP |
9 | g.130452184T>G | CA2692119266 | ASS1 | c.-5-40T>G (n.-5-40T>G) c.110-40T>G (n.110-40T>G) c.92-40T>G (n.92-40T>G) | gnomAD v4 |
9 | g.130452185G>A | CA2579483305 | ASS1 | c.-5-39G>A (n.-5-39G>A) c.110-39G>A (n.110-39G>A) c.92-39G>A (n.92-39G>A) | |
9 | g.130452185G>C | CA2692119267 | ASS1 | c.-5-39G>C (n.-5-39G>C) c.110-39G>C (n.110-39G>C) c.92-39G>C (n.92-39G>C) | gnomAD v4 |
9 | g.130452187C>T | CA2692119268 | ASS1 | c.-5-37C>T (n.-5-37C>T) c.110-37C>T (n.110-37C>T) c.92-37C>T (n.92-37C>T) | gnomAD v4 |
9 | g.130452188T>C | CA1881244365 | ASS1 | c.-5-36T>C (n.-5-36T>C) c.110-36T>C (n.110-36T>C) c.92-36T>C (n.92-36T>C) | dbSNP |
9 | g.130452188T= | CA1881244367 | ASS1 | c.-5-36T= (n.-5-36T=) c.110-36T= (n.110-36T=) c.92-36T= (n.92-36T=) | |
9 | g.130452189C= | CA1881244370 | ASS1 | c.-5-35C= (n.-5-35C=) c.110-35C= (n.110-35C=) c.92-35C= (n.92-35C=) | |
9 | g.130452189C>T | CA590703548 | ASS1 | c.-5-35C>T (n.-5-35C>T) c.110-35C>T (n.110-35C>T) c.92-35C>T (n.92-35C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452190A= | CA1881244372 | ASS1 | c.-5-34A= (n.-5-34A=) c.110-34A= (n.110-34A=) c.92-34A= (n.92-34A=) | |
9 | g.130452190A>G | CA590703549 | ASS1 | c.-5-34A>G (n.-5-34A>G) c.110-34A>G (n.110-34A>G) c.92-34A>G (n.92-34A>G) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452190_130452191delinsAG | CA1881244374 | ASS1 | c.-5-34_-5-33delinsAG (n.-5-34_-5-33delinsAG) c.110-34_110-33delinsAG (n.110-34_110-33delinsAG) c.92-34_92-33delinsAG (n.92-34_92-33delinsAG) | |
9 | g.130452191G>A | CA200603389 | ASS1 | c.-5-33G>A (n.-5-33G>A) c.110-33G>A (n.110-33G>A) c.92-33G>A (n.92-33G>A) | dbSNP |
9 | g.130452191G= | CA1881244377 | ASS1 | c.-5-33G= (n.-5-33G=) c.110-33G= (n.110-33G=) c.92-33G= (n.92-33G=) | |
9 | g.130452193del | CA590703550 | ASS1 | c.-5-31del (n.-5-31del) c.110-31del (n.110-31del) c.92-31del (n.92-31del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452192G>A | CA1129488120 | ASS1 | c.-5-32G>A (n.-5-32G>A) c.110-32G>A (n.110-32G>A) c.92-32G>A (n.92-32G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452192G>C | CA5283112 | ASS1 | c.-5-32G>C (n.-5-32G>C) c.110-32G>C (n.110-32G>C) c.92-32G>C (n.92-32G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452192G= | CA1881244379 | ASS1 | c.-5-32G= (n.-5-32G=) c.110-32G= (n.110-32G=) c.92-32G= (n.92-32G=) | |
9 | g.130452193G>A | CA200603392 | ASS1 | c.-5-31G>A (n.-5-31G>A) c.110-31G>A (n.110-31G>A) c.92-31G>A (n.92-31G>A) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452193G= | CA1881244384 | ASS1 | c.-5-31G= (n.-5-31G=) c.110-31G= (n.110-31G=) c.92-31G= (n.92-31G=) | |
9 | g.130452193G>T | CA2720472655 | ASS1 | c.-5-31G>T (n.-5-31G>T) c.110-31G>T (n.110-31G>T) c.92-31G>T (n.92-31G>T) | dbSNP |
9 | g.130452195C= | CA1881244387 | ASS1 | c.-5-29C= (n.-5-29C=) c.110-29C= (n.110-29C=) c.92-29C= (n.92-29C=) | |
9 | g.130452195C>T | CA860467202 | ASS1 | c.-5-29C>T (n.-5-29C>T) c.110-29C>T (n.110-29C>T) c.92-29C>T (n.92-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452197C= | CA1881244388 | ASS1 | c.-5-27C= (n.-5-27C=) c.110-27C= (n.110-27C=) c.92-27C= (n.92-27C=) | |
9 | g.130452197C>G | CA860467208 | ASS1 | c.-5-27C>G (n.-5-27C>G) c.110-27C>G (n.110-27C>G) c.92-27C>G (n.92-27C>G) | dbSNP |
9 | g.130452199C>A | CA200603410 | ASS1 | c.-5-25C>A (n.-5-25C>A) c.110-25C>A (n.110-25C>A) c.92-25C>A (n.92-25C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452199C= | CA1881244391 | ASS1 | c.-5-25C= (n.-5-25C=) c.110-25C= (n.110-25C=) c.92-25C= (n.92-25C=) | |
9 | g.130452205G>A | CA590703551 | ASS1 | c.-5-19G>A (n.-5-19G>A) c.110-19G>A (n.110-19G>A) c.92-19G>A (n.92-19G>A) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452205G= | CA1881244394 | ASS1 | c.-5-19G= (n.-5-19G=) c.110-19G= (n.110-19G=) c.92-19G= (n.92-19G=) | |
9 | g.130452205_130452206delinsGT | CA1881244392 | ASS1 | c.-5-19_-5-18delinsGT (n.-5-19_-5-18delinsGT) c.110-19_110-18delinsGT (n.110-19_110-18delinsGT) c.92-19_92-18delinsGT (n.92-19_92-18delinsGT) | |
9 | g.130452207del | CA590703552 | ASS1 | c.-5-17del (n.-5-17del) c.110-17del (n.110-17del) c.92-17del (n.92-17del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452208C= | CA1881244395 | ASS1 | c.-5-16C= (n.-5-16C=) c.110-16C= (n.110-16C=) c.92-16C= (n.92-16C=) | |
9 | g.130452208C>T | CA5283113 | ASS1 | c.-5-16C>T (n.-5-16C>T) c.110-16C>T (n.110-16C>T) c.92-16C>T (n.92-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452209C= | CA1881244396 | ASS1 | c.-5-15C= (n.-5-15C=) c.110-15C= (n.110-15C=) c.92-15C= (n.92-15C=) | |
9 | g.130452209C>T | CA5283114 | ASS1 | c.-5-15C>T (n.-5-15C>T) c.110-15C>T (n.110-15C>T) c.92-15C>T (n.92-15C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452210T>C | CA590703553 | ASS1 | c.-5-14T>C (n.-5-14T>C) c.110-14T>C (n.110-14T>C) c.92-14T>C (n.92-14T>C) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452210T= | CA1881244397 | ASS1 | c.-5-14T= (n.-5-14T=) c.110-14T= (n.110-14T=) c.92-14T= (n.92-14T=) | |
9 | g.130452211C= | CA1881244398 | ASS1 | c.-5-13C= (n.-5-13C=) c.110-13C= (n.110-13C=) c.92-13C= (n.92-13C=) | |
9 | g.130452211C>G | CA200603425 | ASS1 | c.-5-13C>G (n.-5-13C>G) c.110-13C>G (n.110-13C>G) c.92-13C>G (n.92-13C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452211C>T | CA860467233 | ASS1 | c.-5-13C>T (n.-5-13C>T) c.110-13C>T (n.110-13C>T) c.92-13C>T (n.92-13C>T) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452212del | CA2692119290 | ASS1 | c.-5-12del (n.-5-12del) c.110-12del (n.110-12del) c.92-12del (n.92-12del) | gnomAD v4 |
9 | g.130452212G>A | CA5283115 | ASS1 | c.-5-12G>A (n.-5-12G>A) c.110-12G>A (n.110-12G>A) c.92-12G>A (n.92-12G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452212G= | CA1881244399 | ASS1 | c.-5-12G= (n.-5-12G=) c.110-12G= (n.110-12G=) c.92-12G= (n.92-12G=) | |
9 | g.130452212G>T | CA2692119295 | ASS1 | c.-5-12G>T (n.-5-12G>T) c.110-12G>T (n.110-12G>T) c.92-12G>T (n.92-12G>T) | gnomAD v4 |
9 | g.130452213A>G | CA2579483307 | ASS1 | c.-5-11A>G (n.-5-11A>G) c.110-11A>G (n.110-11A>G) c.92-11A>G (n.92-11A>G) | |
9 | g.130452213A>T | CA2579483306 | ASS1 | c.-5-11A>T (n.-5-11A>T) c.110-11A>T (n.110-11A>T) c.92-11A>T (n.92-11A>T) | |
9 | g.130452214C= | CA1881244400 | ASS1 | c.-5-10C= (n.-5-10C=) c.110-10C= (n.110-10C=) c.92-10C= (n.92-10C=) | |
9 | g.130452214C>G | CA5283116 | ASS1 | c.-5-10C>G (n.-5-10C>G) c.110-10C>G (n.110-10C>G) c.92-10C>G (n.92-10C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452216C= | CA1881244401 | ASS1 | c.-5-8C= (n.-5-8C=) c.110-8C= (n.110-8C=) c.92-8C= (n.92-8C=) | |
9 | g.130452216C>T | CA5283117 | ASS1 | c.-5-8C>T (n.-5-8C>T) c.110-8C>T (n.110-8C>T) c.92-8C>T (n.92-8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452218C= | CA1881244402 | ASS1 | c.-5-6C= (n.-5-6C=) c.110-6C= (n.110-6C=) c.92-6C= (n.92-6C=) | |
9 | g.130452218C>T | CA5283118 | ASS1 | c.-5-6C>T (n.-5-6C>T) c.110-6C>T (n.110-6C>T) c.92-6C>T (n.92-6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452219G>A | CA5283119 | ASS1 | c.-5-5G>A (n.-5-5G>A) c.110-5G>A (n.110-5G>A) c.92-5G>A (n.92-5G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452219G= | CA1881244403 | ASS1 | c.-5-5G= (n.-5-5G=) c.110-5G= (n.110-5G=) c.92-5G= (n.92-5G=) | |
9 | g.130452219G>T | CA590703554 | ASS1 | c.-5-5G>T (n.-5-5G>T) c.110-5G>T (n.110-5G>T) c.92-5G>T (n.92-5G>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452220C= | CA1881244404 | ASS1 | c.-5-4C= (n.-5-4C=) c.110-4C= (n.110-4C=) c.92-4C= (n.92-4C=) | |
9 | g.130452220C>T | CA590703555 | ASS1 | c.-5-4C>T (n.-5-4C>T) c.110-4C>T (n.110-4C>T) c.92-4C>T (n.92-4C>T) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452222A= | CA1881244405 | ASS1 | c.-5-2A= (n.-5-2A=) c.110-2A= (n.110-2A=) c.92-2A= (n.92-2A=) | |
9 | g.130452222A>C | CA200603461 | ASS1 | c.-5-2A>C (n.-5-2A>C) c.110-2A>C (n.110-2A>C) c.92-2A>C (n.92-2A>C) | dbSNP |
9 | g.130452225C= | CA1881244406 | ASS1 | c.-4C= (n.-4C=) c.111C= (p.Asp37=) c.93C= (p.Asp31=) | |
9 | g.130452225C>G | CA860467257 | ASS1 | c.-4C>G (n.-4C>G) c.111C>G (p.Asp37Glu) c.93C>G (p.Asp31Glu) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452225C>T | CA312353 | ASS1 | c.-4C>T (n.-4C>T) c.111C>T (p.Asp37=) c.93C>T (p.Asp31=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452226G>A | CA590703556 | ASS1 | c.-3G>A (n.-3G>A) c.112G>A (p.Ala38Thr) c.94G>A (p.Ala32Thr) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452226G>C | CA2579483308 | ASS1 | c.-3G>C (n.-3G>C) c.112G>C (p.Ala38Pro) c.94G>C (p.Ala32Pro) | gnomAD v4 |
9 | g.130452226G= | CA1881244407 | ASS1 | c.-3G= (n.-3G=) c.112G= (p.Ala38=) c.94G= (p.Ala32=) | |
9 | g.130452226G>T | CA5283120 | ASS1 | c.-3G>T (n.-3G>T) c.112G>T (p.Ala38Ser) c.94G>T (p.Ala32Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452227C= | CA1881244408 | ASS1 | c.-2C= (n.-2C=) c.113C= (p.Ala38=) c.95C= (p.Ala32=) | |
9 | g.130452227C>T | CA1881244409 | ASS1 | c.-2C>T (n.-2C>T) c.113C>T (p.Ala38Val) c.95C>T (p.Ala32Val) | dbSNP gnomAD v4 |
9 | g.130452228T>A | CA1881244410 | ASS1 | c.-1T>A (n.-1T>A) c.114T>A (p.Ala38=) c.96T>A (p.Ala32=) | dbSNP |
9 | g.130452228T= | CA1881244411 | ASS1 | c.-1T= (n.-1T=) c.114T= (p.Ala38=) c.96T= (p.Ala32=) | |
9 | g.130452229_130452230del | CA2692119326 | ASS1 | c.1_2del (p.Met1ValfsTer29) c.115_116del (p.Met39ValfsTer29) c.97_98del (p.Met33ValfsTer29) | gnomAD v4 |
9 | g.130452229A= | CA1881244412 | ASS1 | c.1A= (p.Met1=) c.115A= (p.Met39=) c.97A= (p.Met33=) | |
9 | g.130452229A>C | CA375223454 | ASS1 | c.1A>C (p.Met1Leu) c.115A>C (p.Met39Leu) c.97A>C (p.Met33Leu) | |
9 | g.130452229A>G | CA5283121 | ASS1 | c.1A>G (p.Met1Val) c.115A>G (p.Met39Val) c.97A>G (p.Met33Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.130452229A>T | CA375223455 | ASS1 | c.1A>T (p.Met1Leu) c.115A>T (p.Met39Leu) c.97A>T (p.Met33Leu) | |
9 | g.130452230T>A | CA375223456 | ASS1 | c.2T>A (p.Met1Lys) c.116T>A (p.Met39Lys) c.98T>A (p.Met33Lys) | |
9 | g.130452230T>C | CA375223457 | ASS1 | c.2T>C (p.Met1Thr) c.116T>C (p.Met39Thr) c.98T>C (p.Met33Thr) | dbSNP |
9 | g.130452230T>G | CA375223458 | ASS1 | c.2T>G (p.Met1Arg) c.116T>G (p.Met39Arg) c.98T>G (p.Met33Arg) | |
9 | g.130452230T= | CA1881244414 | ASS1 | c.2T= (p.Met1=) c.116T= (p.Met39=) c.98T= (p.Met33=) | |
9 | g.130452231G>A | CA16041297 | ASS1 | c.3G>A (p.Met1Ile) c.117G>A (p.Met39Ile) c.99G>A (p.Met33Ile) | ClinVar dbSNP |
9 | g.130452231G>C | CA375223460 | ASS1 | c.3G>C (p.Met1Ile) c.117G>C (p.Met39Ile) c.99G>C (p.Met33Ile) | |
9 | g.130452231G= | CA1881244416 | ASS1 | c.3G= (p.Met1=) c.117G= (p.Met39=) c.99G= (p.Met33=) | |
9 | g.130452231G>T | CA375223459 | ASS1 | c.3G>T (p.Met1Ile) c.117G>T (p.Met39Ile) c.99G>T (p.Met33Ile) | |
9 | g.130452232T>A | CA5283122 | ASS1 | c.4T>A (p.Ser2Thr) c.118T>A (p.Ser40Thr) c.100T>A (p.Ser34Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452232T>C | CA375223462 | ASS1 | c.4T>C (p.Ser2Pro) c.118T>C (p.Ser40Pro) c.100T>C (p.Ser34Pro) | |
9 | g.130452232T>G | CA375223461 | ASS1 | c.4T>G (p.Ser2Ala) c.118T>G (p.Ser40Ala) c.100T>G (p.Ser34Ala) | |
9 | g.130452232T= | CA1881244417 | ASS1 | c.4T= (p.Ser2=) c.118T= (p.Ser40=) c.100T= (p.Ser34=) | |
9 | g.130452233C>A | CA375223463 | ASS1 | c.5C>A (p.Ser2Tyr) c.119C>A (p.Ser40Tyr) c.101C>A (p.Ser34Tyr) | |
9 | g.130452233C>G | CA375223465 | ASS1 | c.5C>G (p.Ser2Cys) c.119C>G (p.Ser40Cys) c.101C>G (p.Ser34Cys) | |
9 | g.130452233C>T | CA375223464 | ASS1 | c.5C>T (p.Ser2Phe) c.119C>T (p.Ser40Phe) c.101C>T (p.Ser34Phe) | |
9 | g.130452233_130452234del | CA2692119341 | ASS1 | c.5_6del (p.Ser2Ter) c.119_120del (p.Ser40Ter) c.101_102del (p.Ser34Ter) | gnomAD v4 |
9 | g.130452234C>A | CA467388102 | ASS1 | c.6C>A (p.Ser2=) c.120C>A (p.Ser40=) c.102C>A (p.Ser34=) | |
9 | g.130452234C>G | CA467388103 | ASS1 | c.6C>G (p.Ser2=) c.120C>G (p.Ser40=) c.102C>G (p.Ser34=) | |
9 | g.130452234C>T | CA467388104 | ASS1 | c.6C>T (p.Ser2=) c.120C>T (p.Ser40=) c.102C>T (p.Ser34=) | |
9 | g.130452235A>C | CA375223466 | ASS1 | c.7A>C (p.Ser3Arg) c.121A>C (p.Ser41Arg) c.103A>C (p.Ser35Arg) | |
9 | g.130452235A>G | CA375223467 | ASS1 | c.7A>G (p.Ser3Gly) c.121A>G (p.Ser41Gly) c.103A>G (p.Ser35Gly) | gnomAD v4 |
9 | g.130452235A>T | CA375223468 | ASS1 | c.7A>T (p.Ser3Cys) c.121A>T (p.Ser41Cys) c.103A>T (p.Ser35Cys) | |
9 | g.130452236G>A | CA375223469 | ASS1 | c.8G>A (p.Ser3Asn) c.122G>A (p.Ser41Asn) c.104G>A (p.Ser35Asn) | ClinVar dbSNP |
9 | g.130452236G>C | CA375223470 | ASS1 | c.8G>C (p.Ser3Thr) c.122G>C (p.Ser41Thr) c.104G>C (p.Ser35Thr) | |
9 | g.130452236G= | CA1881244418 | ASS1 | c.8G= (p.Ser3=) c.122G= (p.Ser41=) c.104G= (p.Ser35=) | |
9 | g.130452236G>T | CA375223471 | ASS1 | c.8G>T (p.Ser3Ile) c.122G>T (p.Ser41Ile) c.104G>T (p.Ser35Ile) | |
9 | g.130452236_130452243del | CA2692119348 | ASS1 | c.8_15del (p.Ser3IlefsTer25) c.122_129del (p.Ser41IlefsTer25) c.104_111del (p.Ser35IlefsTer25) | gnomAD v4 |
9 | g.130452237C>A | CA375223472 | ASS1 | c.9C>A (p.Ser3Arg) c.123C>A (p.Ser41Arg) c.105C>A (p.Ser35Arg) | |
9 | g.130452237C>G | CA375223473 | ASS1 | c.9C>G (p.Ser3Arg) c.123C>G (p.Ser41Arg) c.105C>G (p.Ser35Arg) | gnomAD v4 |
9 | g.130452237C>T | CA467388107 | ASS1 | c.9C>T (p.Ser3=) c.123C>T (p.Ser41=) c.105C>T (p.Ser35=) | |
9 | g.130452238A>C | CA375223474 | ASS1 | c.10A>C (p.Lys4Gln) c.124A>C (p.Lys42Gln) c.106A>C (p.Lys36Gln) | |
9 | g.130452238A>G | CA375223475 | ASS1 | c.10A>G (p.Lys4Glu) c.124A>G (p.Lys42Glu) c.106A>G (p.Lys36Glu) | |
9 | g.130452238A>T | CA375223476 | ASS1 | c.10A>T (p.Lys4Ter) c.124A>T (p.Lys42Ter) c.106A>T (p.Lys36Ter) | |
9 | g.130452240del | CA2692119353 | ASS1 | c.12del (p.Gly5AlafsTer20) c.126del (p.Gly43AlafsTer20) c.108del (p.Gly37AlafsTer20) | gnomAD v4 |
9 | g.130452239A>C | CA375223479 | ASS1 | c.11A>C (p.Lys4Thr) c.125A>C (p.Lys42Thr) c.107A>C (p.Lys36Thr) | |
9 | g.130452239A>G | CA375223478 | ASS1 | c.11A>G (p.Lys4Arg) c.125A>G (p.Lys42Arg) c.107A>G (p.Lys36Arg) | |
9 | g.130452239A>T | CA375223477 | ASS1 | c.11A>T (p.Lys4Ile) c.125A>T (p.Lys42Ile) c.107A>T (p.Lys36Ile) | |
9 | g.130452240A>C | CA375223480 | ASS1 | c.12A>C (p.Lys4Asn) c.126A>C (p.Lys42Asn) c.108A>C (p.Lys36Asn) | |
9 | g.130452240A>G | CA467388109 | ASS1 | c.12A>G (p.Lys4=) c.126A>G (p.Lys42=) c.108A>G (p.Lys36=) | |
9 | g.130452240A>T | CA375223481 | ASS1 | c.12A>T (p.Lys4Asn) c.126A>T (p.Lys42Asn) c.108A>T (p.Lys36Asn) | |
9 | g.130452241G>A | CA375223482 | ASS1 | c.13G>A (p.Gly5Ser) c.127G>A (p.Gly43Ser) c.109G>A (p.Gly37Ser) | |
9 | g.130452241G>C | CA375223483 | ASS1 | c.13G>C (p.Gly5Arg) c.127G>C (p.Gly43Arg) c.109G>C (p.Gly37Arg) | |
9 | g.130452241G>T | CA375223484 | ASS1 | c.13G>T (p.Gly5Cys) c.127G>T (p.Gly43Cys) c.109G>T (p.Gly37Cys) | |
9 | g.130452242G>A | CA375223485 | ASS1 | c.14G>A (p.Gly5Asp) c.128G>A (p.Gly43Asp) c.110G>A (p.Gly37Asp) | |
9 | g.130452242G>C | CA312354 | ASS1 | c.14G>C (p.Gly5Ala) c.128G>C (p.Gly43Ala) c.110G>C (p.Gly37Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452242G= | CA1881244420 | ASS1 | c.14G= (p.Gly5=) c.128G= (p.Gly43=) c.110G= (p.Gly37=) | |
9 | g.130452242G>T | CA5283123 | ASS1 | c.14G>T (p.Gly5Val) c.128G>T (p.Gly43Val) c.110G>T (p.Gly37Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452243C>A | CA467388111 | ASS1 | c.15C>A (p.Gly5=) c.129C>A (p.Gly43=) c.111C>A (p.Gly37=) | |
9 | g.130452243C>G | CA467388112 | ASS1 | c.15C>G (p.Gly5=) c.129C>G (p.Gly43=) c.111C>G (p.Gly37=) | |
9 | g.130452243C>T | CA467388113 | ASS1 | c.15C>T (p.Gly5=) c.129C>T (p.Gly43=) c.111C>T (p.Gly37=) | |
9 | g.130452244T>A | CA375223486 | ASS1 | c.16T>A (p.Ser6Thr) c.130T>A (p.Ser44Thr) c.112T>A (p.Ser38Thr) | |
9 | g.130452244T>C | CA5283125 | ASS1 | c.16T>C (p.Ser6Pro) c.130T>C (p.Ser44Pro) c.112T>C (p.Ser38Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452244T>G | CA5283124 | ASS1 | c.16T>G (p.Ser6Ala) c.130T>G (p.Ser44Ala) c.112T>G (p.Ser38Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452244T= | CA1881244421 | ASS1 | c.16T= (p.Ser6=) c.130T= (p.Ser44=) c.112T= (p.Ser38=) | |
9 | g.130452245C>A | CA375223489 | ASS1 | c.17C>A (p.Ser6Tyr) c.131C>A (p.Ser44Tyr) c.113C>A (p.Ser38Tyr) | |
9 | g.130452245C>G | CA375223488 | ASS1 | c.17C>G (p.Ser6Cys) c.131C>G (p.Ser44Cys) c.113C>G (p.Ser38Cys) | |
9 | g.130452245C>T | CA375223487 | ASS1 | c.17C>T (p.Ser6Phe) c.131C>T (p.Ser44Phe) c.113C>T (p.Ser38Phe) | COSMIC |
9 | g.130452246C>A | CA467388114 | ASS1 | c.18C>A (p.Ser6=) c.132C>A (p.Ser44=) c.114C>A (p.Ser38=) | gnomAD v4 |
9 | g.130452246C= | CA1881244422 | ASS1 | c.18C= (p.Ser6=) c.132C= (p.Ser44=) c.114C= (p.Ser38=) | |
9 | g.130452246C>G | CA467388115 | ASS1 | c.18C>G (p.Ser6=) c.132C>G (p.Ser44=) c.114C>G (p.Ser38=) | ClinVar dbSNP |
9 | g.130452246C>T | CA5283126 | ASS1 | c.18C>T (p.Ser6=) c.132C>T (p.Ser44=) c.114C>T (p.Ser38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452247G>A | CA5283127 | ASS1 | c.19G>A (p.Val7Met) c.133G>A (p.Val45Met) c.115G>A (p.Val39Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452247G>C | CA375223490 | ASS1 | c.19G>C (p.Val7Leu) c.133G>C (p.Val45Leu) c.115G>C (p.Val39Leu) | |
9 | g.130452247G= | CA1881244424 | ASS1 | c.19G= (p.Val7=) c.133G= (p.Val45=) c.115G= (p.Val39=) | |
9 | g.130452247G>T | CA375223491 | ASS1 | c.19G>T (p.Val7Leu) c.133G>T (p.Val45Leu) c.115G>T (p.Val39Leu) | |
9 | g.130452248T>A | CA375223492 | ASS1 | c.20T>A (p.Val7Glu) c.134T>A (p.Val45Glu) c.116T>A (p.Val39Glu) | |
9 | g.130452248T>C | CA375223493 | ASS1 | c.20T>C (p.Val7Ala) c.134T>C (p.Val45Ala) c.116T>C (p.Val39Ala) | |
9 | g.130452248T>G | CA375223494 | ASS1 | c.20T>G (p.Val7Gly) c.134T>G (p.Val45Gly) c.116T>G (p.Val39Gly) | |
9 | g.130452249G>A | CA467388119 | ASS1 | c.21G>A (p.Val7=) c.135G>A (p.Val45=) c.117G>A (p.Val39=) | |
9 | g.130452249G>C | CA467388120 | ASS1 | c.21G>C (p.Val7=) c.135G>C (p.Val45=) c.117G>C (p.Val39=) | |
9 | g.130452249G>T | CA467388121 | ASS1 | c.21G>T (p.Val7=) c.135G>T (p.Val45=) c.117G>T (p.Val39=) | |
9 | g.130452250G>A | CA375223495 | ASS1 | c.22G>A (p.Val8Ile) c.136G>A (p.Val46Ile) c.118G>A (p.Val40Ile) | |
9 | g.130452250G>C | CA375223496 | ASS1 | c.22G>C (p.Val8Leu) c.136G>C (p.Val46Leu) c.118G>C (p.Val40Leu) | |
9 | g.130452250G= | CA1881244426 | ASS1 | c.22G= (p.Val8=) c.136G= (p.Val46=) c.118G= (p.Val40=) | |
9 | g.130452250G>T | CA375223497 | ASS1 | c.22G>T (p.Val8Phe) c.136G>T (p.Val46Phe) c.118G>T (p.Val40Phe) | dbSNP gnomAD v4 |
9 | g.130452251T>A | CA375223498 | ASS1 | c.23T>A (p.Val8Asp) c.137T>A (p.Val46Asp) c.119T>A (p.Val40Asp) | |
9 | g.130452251T>C | CA375223499 | ASS1 | c.23T>C (p.Val8Ala) c.137T>C (p.Val46Ala) c.119T>C (p.Val40Ala) | dbSNP |
9 | g.130452251T>G | CA375223500 | ASS1 | c.23T>G (p.Val8Gly) c.137T>G (p.Val46Gly) c.119T>G (p.Val40Gly) | |
9 | g.130452251T= | CA1881244430 | ASS1 | c.23T= (p.Val8=) c.137T= (p.Val46=) c.119T= (p.Val40=) | |
9 | g.130452252T>A | CA467388124 | ASS1 | c.24T>A (p.Val8=) c.138T>A (p.Val46=) c.120T>A (p.Val40=) | |
9 | g.130452252T>C | CA467388125 | ASS1 | c.24T>C (p.Val8=) c.138T>C (p.Val46=) c.120T>C (p.Val40=) | dbSNP |
9 | g.130452252T>G | CA467388126 | ASS1 | c.24T>G (p.Val8=) c.138T>G (p.Val46=) c.120T>G (p.Val40=) | |
9 | g.130452252T= | CA1881244432 | ASS1 | c.24T= (p.Val8=) c.138T= (p.Val46=) c.120T= (p.Val40=) | |
9 | g.130452253C>A | CA375223501 | ASS1 | c.25C>A (p.Leu9Met) c.139C>A (p.Leu47Met) c.121C>A (p.Leu41Met) | |
9 | g.130452253C= | CA1881244433 | ASS1 | c.25C= (p.Leu9=) c.139C= (p.Leu47=) c.121C= (p.Leu41=) | |
9 | g.130452253C>G | CA5283128 | ASS1 | c.25C>G (p.Leu9Val) c.139C>G (p.Leu47Val) c.121C>G (p.Leu41Val) | dbSNP ExAC |
9 | g.130452253C>T | CA467388128 | ASS1 | c.25C>T (p.Leu9=) c.139C>T (p.Leu47=) c.121C>T (p.Leu41=) | |
9 | g.130452254T>A | CA375223502 | ASS1 | c.26T>A (p.Leu9Gln) c.140T>A (p.Leu47Gln) c.122T>A (p.Leu41Gln) | gnomAD v4 |
9 | g.130452254T>C | CA375223503 | ASS1 | c.26T>C (p.Leu9Pro) c.140T>C (p.Leu47Pro) c.122T>C (p.Leu41Pro) | |
9 | g.130452254T>G | CA375223504 | ASS1 | c.26T>G (p.Leu9Arg) c.140T>G (p.Leu47Arg) c.122T>G (p.Leu41Arg) | |
9 | g.130452255G>A | CA467388130 | ASS1 | c.27G>A (p.Leu9=) c.141G>A (p.Leu47=) c.123G>A (p.Leu41=) | gnomAD v4 |
9 | g.130452255G>C | CA467388131 | ASS1 | c.27G>C (p.Leu9=) c.141G>C (p.Leu47=) c.123G>C (p.Leu41=) | |
9 | g.130452255G>T | CA467388129 | ASS1 | c.27G>T (p.Leu9=) c.141G>T (p.Leu47=) c.123G>T (p.Leu41=) | |
9 | g.130452256G>A | CA375223505 | ASS1 | c.28G>A (p.Ala10Thr) c.142G>A (p.Ala48Thr) c.124G>A (p.Ala42Thr) | |
9 | g.130452256G>C | CA375223506 | ASS1 | c.28G>C (p.Ala10Pro) c.142G>C (p.Ala48Pro) c.124G>C (p.Ala42Pro) | ClinVar dbSNP gnomAD v4 |
9 | g.130452256G= | CA1881244442 | ASS1 | c.28G= (p.Ala10=) c.142G= (p.Ala48=) c.124G= (p.Ala42=) | |
9 | g.130452256G>T | CA375223507 | ASS1 | c.28G>T (p.Ala10Ser) c.142G>T (p.Ala48Ser) c.124G>T (p.Ala42Ser) | |
9 | g.130452257C>A | CA375223508 | ASS1 | c.29C>A (p.Ala10Asp) c.143C>A (p.Ala48Asp) c.125C>A (p.Ala42Asp) | gnomAD v4 |
9 | g.130452257C>G | CA375223509 | ASS1 | c.29C>G (p.Ala10Gly) c.143C>G (p.Ala48Gly) c.125C>G (p.Ala42Gly) | |
9 | g.130452257C>T | CA375223510 | ASS1 | c.29C>T (p.Ala10Val) c.143C>T (p.Ala48Val) c.125C>T (p.Ala42Val) | |
9 | g.130452258C>A | CA467388137 | ASS1 | c.30C>A (p.Ala10=) c.144C>A (p.Ala48=) c.126C>A (p.Ala42=) | |
9 | g.130452258C>G | CA467388135 | ASS1 | c.30C>G (p.Ala10=) c.144C>G (p.Ala48=) c.126C>G (p.Ala42=) | |
9 | g.130452258C>T | CA467388136 | ASS1 | c.30C>T (p.Ala10=) c.144C>T (p.Ala48=) c.126C>T (p.Ala42=) | |
9 | g.130452259T>A | CA375223511 | ASS1 | c.31T>A (p.Tyr11Asn) c.145T>A (p.Tyr49Asn) c.127T>A (p.Tyr43Asn) | |
9 | g.130452259T>C | CA375223512 | ASS1 | c.31T>C (p.Tyr11His) c.145T>C (p.Tyr49His) c.127T>C (p.Tyr43His) | |
9 | g.130452259T>G | CA375223513 | ASS1 | c.31T>G (p.Tyr11Asp) c.145T>G (p.Tyr49Asp) c.127T>G (p.Tyr43Asp) | |
9 | g.130452260A>C | CA375223516 | ASS1 | c.32A>C (p.Tyr11Ser) c.146A>C (p.Tyr49Ser) c.128A>C (p.Tyr43Ser) | |
9 | g.130452260A>G | CA375223515 | ASS1 | c.32A>G (p.Tyr11Cys) c.146A>G (p.Tyr49Cys) c.128A>G (p.Tyr43Cys) | |
9 | g.130452260A>T | CA375223514 | ASS1 | c.32A>T (p.Tyr11Phe) c.146A>T (p.Tyr49Phe) c.128A>T (p.Tyr43Phe) | |
9 | g.130452261C>A | CA375223517 | ASS1 | c.33C>A (p.Tyr11Ter) c.147C>A (p.Tyr49Ter) c.129C>A (p.Tyr43Ter) | |
9 | g.130452261C= | CA1881244445 | ASS1 | c.33C= (p.Tyr11=) c.147C= (p.Tyr49=) c.129C= (p.Tyr43=) | |
9 | g.130452261C>G | CA375223518 | ASS1 | c.33C>G (p.Tyr11Ter) c.147C>G (p.Tyr49Ter) c.129C>G (p.Tyr43Ter) | gnomAD v4 |
9 | g.130452261C>T | CA5283129 | ASS1 | c.33C>T (p.Tyr11=) c.147C>T (p.Tyr49=) c.129C>T (p.Tyr43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.130452262A= | CA1881244450 | ASS1 | c.34A= (p.Ser12=) c.148A= (p.Ser50=) c.130A= (p.Ser44=) | |
9 | g.130452262A>C | CA375223519 | ASS1 | c.34A>C (p.Ser12Arg) c.148A>C (p.Ser50Arg) c.130A>C (p.Ser44Arg) | |
9 | g.130452262A>G | CA375223520 | ASS1 | c.34A>G (p.Ser12Gly) c.148A>G (p.Ser50Gly) c.130A>G (p.Ser44Gly) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452262A>T | CA375223521 | ASS1 | c.34A>T (p.Ser12Cys) c.148A>T (p.Ser50Cys) c.130A>T (p.Ser44Cys) | |
9 | g.130452263G>A | CA375223524 | ASS1 | c.35G>A (p.Ser12Asn) c.149G>A (p.Ser50Asn) c.131G>A (p.Ser44Asn) | |
9 | g.130452263G>C | CA375223522 | ASS1 | c.35G>C (p.Ser12Thr) c.149G>C (p.Ser50Thr) c.131G>C (p.Ser44Thr) | |
9 | g.130452263G>T | CA375223523 | ASS1 | c.35G>T (p.Ser12Ile) c.149G>T (p.Ser50Ile) c.131G>T (p.Ser44Ile) | |
9 | g.130452264_130452266dup | CA2692119421 | ASS1 | c.36_38dup (p.Gly13_Gly14insGly) c.150_152dup (p.Gly51_Gly52insGly) c.132_134dup (p.Gly45_Gly46insGly) | gnomAD v4 |
9 | g.130452264T>A | CA375223525 | ASS1 | c.36T>A (p.Ser12Arg) c.150T>A (p.Ser50Arg) c.132T>A (p.Ser44Arg) | |
9 | g.130452264T>C | CA467388141 | ASS1 | c.36T>C (p.Ser12=) c.150T>C (p.Ser50=) c.132T>C (p.Ser44=) | |
9 | g.130452264T>G | CA375223526 | ASS1 | c.36T>G (p.Ser12Arg) c.150T>G (p.Ser50Arg) c.132T>G (p.Ser44Arg) | |
9 | g.130452265G>A | CA375223527 | ASS1 | c.37G>A (p.Gly13Ser) c.151G>A (p.Gly51Ser) c.133G>A (p.Gly45Ser) | |
9 | g.130452265G>C | CA375223528 | ASS1 | c.37G>C (p.Gly13Arg) c.151G>C (p.Gly51Arg) c.133G>C (p.Gly45Arg) | |
9 | g.130452265G>T | CA375223529 | ASS1 | c.37G>T (p.Gly13Cys) c.151G>T (p.Gly51Cys) c.133G>T (p.Gly45Cys) | |
9 | g.130452266G>A | CA375223532 | ASS1 | c.38G>A (p.Gly13Asp) c.152G>A (p.Gly51Asp) c.134G>A (p.Gly45Asp) | |
9 | g.130452266G>C | CA375223530 | ASS1 | c.38G>C (p.Gly13Ala) c.152G>C (p.Gly51Ala) c.134G>C (p.Gly45Ala) | |
9 | g.130452266G>T | CA375223531 | ASS1 | c.38G>T (p.Gly13Val) c.152G>T (p.Gly51Val) c.134G>T (p.Gly45Val) | |
9 | g.130452267C>A | CA467388146 | ASS1 | c.39C>A (p.Gly13=) c.153C>A (p.Gly51=) c.135C>A (p.Gly45=) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.130452267C= | CA1881244453 | ASS1 | c.39C= (p.Gly13=) c.153C= (p.Gly51=) c.135C= (p.Gly45=) | |
9 | g.130452267C>G | CA467388145 | ASS1 | c.39C>G (p.Gly13=) c.153C>G (p.Gly51=) c.135C>G (p.Gly45=) | |
9 | g.130452267C>T | CA5283130 | ASS1 | c.39C>T (p.Gly13=) c.153C>T (p.Gly51=) c.135C>T (p.Gly45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452268G>A | CA253829 | ASS1 | c.40G>A (p.Gly14Ser) c.154G>A (p.Gly52Ser) c.136G>A (p.Gly46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.130452268G>C | CA375223534 | ASS1 | c.40G>C (p.Gly14Arg) c.154G>C (p.Gly52Arg) c.136G>C (p.Gly46Arg) | |
9 | g.130452268G= | CA1881244456 | ASS1 | c.40G= (p.Gly14=) c.154G= (p.Gly52=) c.136G= (p.Gly46=) | |
9 | g.130452268G>T | CA375223535 | ASS1 | c.40G>T (p.Gly14Cys) c.154G>T (p.Gly52Cys) c.136G>T (p.Gly46Cys) | |
9 | g.130452269dup | CA375223533 | ASS1 | c.41dup (p.Leu15ProfsTer16) c.155dup (p.Leu53ProfsTer16) c.137dup (p.Leu47ProfsTer16) | dbSNP |
9 | g.130452269G>A | CA375223536 | ASS1 | c.41G>A (p.Gly14Asp) c.155G>A (p.Gly52Asp) c.137G>A (p.Gly46Asp) | dbSNP |
9 | g.130452269G>C | CA375223537 | ASS1 | c.41G>C (p.Gly14Ala) c.155G>C (p.Gly52Ala) c.137G>C (p.Gly46Ala) | |
9 | g.130452269G= | CA1881244458 | ASS1 | c.41G= (p.Gly14=) c.155G= (p.Gly52=) c.137G= (p.Gly46=) | |
9 | g.130452269G>T | CA375223538 | ASS1 | c.41G>T (p.Gly14Val) c.155G>T (p.Gly52Val) c.137G>T (p.Gly46Val) | |
9 | g.130452270C>A | CA467388150 | ASS1 | c.42C>A (p.Gly14=) c.156C>A (p.Gly52=) c.138C>A (p.Gly46=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452270C= | CA1881244460 | ASS1 | c.42C= (p.Gly14=) c.156C= (p.Gly52=) c.138C= (p.Gly46=) | |
9 | g.130452270C>G | CA467388152 | ASS1 | c.42C>G (p.Gly14=) c.156C>G (p.Gly52=) c.138C>G (p.Gly46=) | ClinVar |
9 | g.130452270C>T | CA467388153 | ASS1 | c.42C>T (p.Gly14=) c.156C>T (p.Gly52=) c.138C>T (p.Gly46=) | |
9 | g.130452271del | CA2692119449 | ASS1 | c.43del (p.Leu15TrpfsTer10) c.157del (p.Leu53TrpfsTer10) c.139del (p.Leu47TrpfsTer10) | gnomAD v4 |
9 | g.130452271C>A | CA375223539 | ASS1 | c.43C>A (p.Leu15Met) c.157C>A (p.Leu53Met) c.139C>A (p.Leu47Met) | |
9 | g.130452271C= | CA1881244464 | ASS1 | c.43C= (p.Leu15=) c.157C= (p.Leu53=) c.139C= (p.Leu47=) | |
9 | g.130452271C>G | CA375223540 | ASS1 | c.43C>G (p.Leu15Val) c.157C>G (p.Leu53Val) c.139C>G (p.Leu47Val) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.130452271C>T | CA467388154 | ASS1 | c.43C>T (p.Leu15=) c.157C>T (p.Leu53=) c.139C>T (p.Leu47=) | |
9 | g.130452272T>A | CA375223541 | ASS1 | c.44T>A (p.Leu15Gln) c.158T>A (p.Leu53Gln) c.140T>A (p.Leu47Gln) | |
9 | g.130452272T>C | CA375223542 | ASS1 | c.44T>C (p.Leu15Pro) c.158T>C (p.Leu53Pro) c.140T>C (p.Leu47Pro) | gnomAD v4 |
9 | g.130452272T>G | CA375223543 | ASS1 | c.44T>G (p.Leu15Arg) c.158T>G (p.Leu53Arg) c.140T>G (p.Leu47Arg) |