Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154903859C>A | CA10567918 | F8 | c.5998+47G>T (n.5998+47G>T) c.5893+47G>T (n.5893+47G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154903859C= | CA2466828117 | F8 | c.5998+47G= (n.5998+47G=) c.5893+47G= (n.5893+47G=) | |
X | g.154903859C>G | CA2695153008 | F8 | c.5998+47G>C (n.5998+47G>C) c.5893+47G>C (n.5893+47G>C) | gnomAD v4 |
X | g.154903859C>T | CA2695153009 | F8 | c.5998+47G>A (n.5998+47G>A) c.5893+47G>A (n.5893+47G>A) | gnomAD v4 |
X | g.154903861C>T | CA2579744510 | F8 | c.5998+45G>A (n.5998+45G>A) c.5893+45G>A (n.5893+45G>A) | |
X | g.154903863A>G | CA2695153010 | F8 | c.5998+43T>C (n.5998+43T>C) c.5893+43T>C (n.5893+43T>C) | gnomAD v4 |
X | g.154903864C>T | CA2695153011 | F8 | c.5998+42G>A (n.5998+42G>A) c.5893+42G>A (n.5893+42G>A) | gnomAD v4 |
X | g.154903868T>C | CA2695153012 | F8 | c.5998+38A>G (n.5998+38A>G) c.5893+38A>G (n.5893+38A>G) | gnomAD v4 |
X | g.154903869A>C | CA2695153013 | F8 | c.5998+37T>G (n.5998+37T>G) c.5893+37T>G (n.5893+37T>G) | gnomAD v4 |
X | g.154903870G>C | CA337318225 | F8 | c.5998+36C>G (n.5998+36C>G) c.5893+36C>G (n.5893+36C>G) | dbSNP gnomAD v4 |
X | g.154903870G= | CA2466828118 | F8 | c.5998+36C= (n.5998+36C=) c.5893+36C= (n.5893+36C=) | |
X | g.154903870G>T | CA2695153014 | F8 | c.5998+36C>A (n.5998+36C>A) c.5893+36C>A (n.5893+36C>A) | gnomAD v4 |
X | g.154903871A>T | CA2579744511 | F8 | c.5998+35T>A (n.5998+35T>A) c.5893+35T>A (n.5893+35T>A) | |
X | g.154903872G>A | CA337318226 | F8 | c.5998+34C>T (n.5998+34C>T) c.5893+34C>T (n.5893+34C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154903872G= | CA2466828119 | F8 | c.5998+34C= (n.5998+34C=) c.5893+34C= (n.5893+34C=) | |
X | g.154903872G>T | CA2695153015 | F8 | c.5998+34C>A (n.5998+34C>A) c.5893+34C>A (n.5893+34C>A) | gnomAD v4 |
X | g.154903873T>C | CA10567919 | F8 | c.5998+33A>G (n.5998+33A>G) c.5893+33A>G (n.5893+33A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154903873T= | CA2466828120 | F8 | c.5998+33A= (n.5998+33A=) c.5893+33A= (n.5893+33A=) | |
X | g.154903875G>T | CA2695153016 | F8 | c.5998+31C>A (n.5998+31C>A) c.5893+31C>A (n.5893+31C>A) | gnomAD v4 |
X | g.154903876G>T | CA2695153017 | F8 | c.5998+30C>A (n.5998+30C>A) c.5893+30C>A (n.5893+30C>A) | gnomAD v4 |
X | g.154903878A>G | CA2695153018 | F8 | c.5998+28T>C (n.5998+28T>C) c.5893+28T>C (n.5893+28T>C) | gnomAD v4 |
X | g.154903879G>T | CA2695153019 | F8 | c.5998+27C>A (n.5998+27C>A) c.5893+27C>A (n.5893+27C>A) | gnomAD v4 |
X | g.154903880A>C | CA2695153020 | F8 | c.5998+26T>G (n.5998+26T>G) c.5893+26T>G (n.5893+26T>G) | gnomAD v4 |
X | g.154903881A>C | CA2695153021 | F8 | c.5998+25T>G (n.5998+25T>G) c.5893+25T>G (n.5893+25T>G) | gnomAD v4 |
X | g.154903885A= | CA2466828121 | F8 | c.5998+21T= (n.5998+21T=) c.5893+21T= (n.5893+21T=) | |
X | g.154903885A>C | CA2466828122 | F8 | c.5998+21T>G (n.5998+21T>G) c.5893+21T>G (n.5893+21T>G) | dbSNP gnomAD v4 |
X | g.154903887_154903888del | CA2695153022 | F8 | c.5998+20_5998+21del (n.5998+20_5998+21del) c.5893+20_5893+21del (n.5893+20_5893+21del) | gnomAD v4 |
X | g.154903886G>T | CA2695153023 | F8 | c.5998+20C>A (n.5998+20C>A) c.5893+20C>A (n.5893+20C>A) | gnomAD v4 |
X | g.154903887A>G | CA2695153024 | F8 | c.5998+19T>C (n.5998+19T>C) c.5893+19T>C (n.5893+19T>C) | gnomAD v4 |
X | g.154903888G>A | CA2695153025 | F8 | c.5998+18C>T (n.5998+18C>T) c.5893+18C>T (n.5893+18C>T) | gnomAD v4 |
X | g.154903888G>T | CA2695153026 | F8 | c.5998+18C>A (n.5998+18C>A) c.5893+18C>A (n.5893+18C>A) | gnomAD v4 |
X | g.154903889C>T | CA2695153027 | F8 | c.5998+17G>A (n.5998+17G>A) c.5893+17G>A (n.5893+17G>A) | gnomAD v4 |
X | g.154903893A>G | CA2579744512 | F8 | c.5998+13T>C (n.5998+13T>C) c.5893+13T>C (n.5893+13T>C) | gnomAD v4 |
X | g.154903895C>A | CA2466828124 | F8 | c.5998+11G>T (n.5998+11G>T) c.5893+11G>T (n.5893+11G>T) | dbSNP |
X | g.154903895C= | CA2466828123 | F8 | c.5998+11G= (n.5998+11G=) c.5893+11G= (n.5893+11G=) | |
X | g.154903895C>T | CA337318236 | F8 | c.5998+11G>A (n.5998+11G>A) c.5893+11G>A (n.5893+11G>A) | dbSNP gnomAD v4 |
X | g.154903899C= | CA2466828125 | F8 | c.5998+7G= (n.5998+7G=) c.5893+7G= (n.5893+7G=) | |
X | g.154903899C>G | CA645251968 | F8 | c.5998+7G>C (n.5998+7G>C) c.5893+7G>C (n.5893+7G>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154903899C>T | CA2695153028 | F8 | c.5998+7G>A (n.5998+7G>A) c.5893+7G>A (n.5893+7G>A) | gnomAD v4 |
X | g.154903901C>T | CA645614542 | F8 | c.5998+5G>A (n.5998+5G>A) c.5893+5G>A (n.5893+5G>A) | COSMIC COSMIC |
X | g.154903902A>C | CA2579744513 | F8 | c.5998+4T>G (n.5998+4T>G) c.5893+4T>G (n.5893+4T>G) | |
X | g.154903903T>A | CA2695237916 | F8 | c.5998+3A>T (n.5998+3A>T) c.5893+3A>T (n.5893+3A>T) | |
X | g.154903903T>G | CA2695237915 | F8 | c.5998+3A>C (n.5998+3A>C) c.5893+3A>C (n.5893+3A>C) | |
X | g.154903904A= | CA2466828126 | F8 | c.5998+2T= (n.5998+2T=) c.5893+2T= (n.5893+2T=) | |
X | g.154903904A>C | CA414905388 | F8 | c.5998+2T>G (n.5998+2T>G) c.5893+2T>G (n.5893+2T>G) | |
X | g.154903904A>G | CA414905382 | F8 | c.5998+2T>C (n.5998+2T>C) c.5893+2T>C (n.5893+2T>C) | dbSNP |
X | g.154903904A>T | CA414905379 | F8 | c.5998+2T>A (n.5998+2T>A) c.5893+2T>A (n.5893+2T>A) | |
X | g.154903905C>A | CA414905391 | F8 | c.5998+1G>T (n.5998+1G>T) c.5893+1G>T (n.5893+1G>T) | |
X | g.154903905C= | CA2466828127 | F8 | c.5998+1G= (n.5998+1G=) c.5893+1G= (n.5893+1G=) | |
X | g.154903905C>G | CA414905392 | F8 | c.5998+1G>C (n.5998+1G>C) c.5893+1G>C (n.5893+1G>C) | dbSNP |
X | g.154903905C>T | CA414905395 | F8 | c.5998+1G>A (n.5998+1G>A) c.5893+1G>A (n.5893+1G>A) | |
X | g.154903906C>A | CA414905399 | F8 | c.5998G>T (p.Gly2000Cys) c.5893G>T (p.Gly1965Cys) | |
X | g.154903906C= | CA2466828128 | F8 | c.5998G= (p.Gly2000=) c.5893G= (p.Gly1965=) | |
X | g.154903906C>G | CA414905403 | F8 | c.5998G>C (p.Gly2000Arg) c.5893G>C (p.Gly1965Arg) | dbSNP |
X | g.154903906C>T | CA414905404 | F8 | c.5998G>A (p.Gly2000Ser) c.5893G>A (p.Gly1965Ser) | |
X | g.154903907T>A | CA519356062 | F8 | c.5997A>T (p.Pro1999=) c.5892A>T (p.Pro1964=) | |
X | g.154903907T>C | CA519356065 | F8 | c.5997A>G (p.Pro1999=) c.5892A>G (p.Pro1964=) | |
X | g.154903907T>G | CA519356063 | F8 | c.5997A>C (p.Pro1999=) c.5892A>C (p.Pro1964=) | |
X | g.154903908G>A | CA414905407 | F8 | c.5996C>T (p.Pro1999Leu) c.5891C>T (p.Pro1964Leu) | |
X | g.154903908G>C | CA414905412 | F8 | c.5996C>G (p.Pro1999Arg) c.5891C>G (p.Pro1964Arg) | |
X | g.154903908G>T | CA414905409 | F8 | c.5996C>A (p.Pro1999Gln) c.5891C>A (p.Pro1964Gln) | |
X | g.154903909G>A | CA414905415 | F8 | c.5995C>T (p.Pro1999Ser) c.5890C>T (p.Pro1964Ser) | |
X | g.154903909G>C | CA414905420 | F8 | c.5995C>G (p.Pro1999Ala) c.5890C>G (p.Pro1964Ala) | ClinVar |
X | g.154903909G>T | CA414905423 | F8 | c.5995C>A (p.Pro1999Thr) c.5890C>A (p.Pro1964Thr) | |
X | g.154903910del | CA2580101787 | F8 | c.5994del (p.Pro1999GlnfsTer?) c.5889del (p.Pro1964GlnfsTer?) | ClinVar |
X | g.154903910A= | CA2466828129 | F8 | c.5994T= (p.Tyr1998=) c.5889T= (p.Tyr1963=) | |
X | g.154903910A>C | CA414905425 | F8 | c.5994T>G (p.Tyr1998Ter) c.5889T>G (p.Tyr1963Ter) | |
X | g.154903910A>G | CA519356068 | F8 | c.5994T>C (p.Tyr1998=) c.5889T>C (p.Tyr1963=) | |
X | g.154903910A>T | CA414905426 | F8 | c.5994T>A (p.Tyr1998Ter) c.5889T>A (p.Tyr1963Ter) | dbSNP |
X | g.154903911T>A | CA414905427 | F8 | c.5993A>T (p.Tyr1998Phe) c.5888A>T (p.Tyr1963Phe) | ClinVar dbSNP gnomAD v4 |
X | g.154903911T>C | CA414905428 | F8 | c.5993A>G (p.Tyr1998Cys) c.5888A>G (p.Tyr1963Cys) | dbSNP |
X | g.154903911T>G | CA414905429 | F8 | c.5993A>C (p.Tyr1998Ser) c.5888A>C (p.Tyr1963Ser) | |
X | g.154903911T= | CA2466828130 | F8 | c.5993A= (p.Tyr1998=) c.5888A= (p.Tyr1963=) | |
X | g.154903912A>C | CA414905430 | F8 | c.5992T>G (p.Tyr1998Asp) c.5887T>G (p.Tyr1963Asp) | gnomAD v4 |
X | g.154903912A>G | CA414905432 | F8 | c.5992T>C (p.Tyr1998His) c.5887T>C (p.Tyr1963His) | |
X | g.154903912A>T | CA414905434 | F8 | c.5992T>A (p.Tyr1998Asn) c.5887T>A (p.Tyr1963Asn) | |
X | g.154903915_154903916del | CA2695237917 | F8 | c.5991_5992del (p.Tyr1998SerfsTer5) c.5886_5887del (p.Tyr1963SerfsTer5) | |
X | g.154903913G>A | CA519356074 | F8 | c.5991C>T (p.Leu1997=) c.5886C>T (p.Leu1962=) | COSMIC COSMIC |
X | g.154903913G>C | CA519356075 | F8 | c.5991C>G (p.Leu1997=) c.5886C>G (p.Leu1962=) | |
X | g.154903913G>T | CA519356076 | F8 | c.5991C>A (p.Leu1997=) c.5886C>A (p.Leu1962=) | |
X | g.154903914A>C | CA414905444 | F8 | c.5990T>G (p.Leu1997Arg) c.5885T>G (p.Leu1962Arg) | |
X | g.154903914A>G | CA414905455 | F8 | c.5990T>C (p.Leu1997Pro) c.5885T>C (p.Leu1962Pro) | |
X | g.154903914A>T | CA414905447 | F8 | c.5990T>A (p.Leu1997His) c.5885T>A (p.Leu1962His) | |
X | g.154903915G>A | CA414905457 | F8 | c.5989C>T (p.Leu1997Phe) c.5884C>T (p.Leu1962Phe) | |
X | g.154903915G>C | CA414905458 | F8 | c.5989C>G (p.Leu1997Val) c.5884C>G (p.Leu1962Val) | |
X | g.154903915G= | CA2466828131 | F8 | c.5989C= (p.Leu1997=) c.5884C= (p.Leu1962=) | |
X | g.154903915G>T | CA414905462 | F8 | c.5989C>A (p.Leu1997Ile) c.5884C>A (p.Leu1962Ile) | dbSNP |
X | g.154903916A>C | CA414905464 | F8 | c.5988T>G (p.Asn1996Lys) c.5883T>G (p.Asn1961Lys) | |
X | g.154903916A>G | CA519356082 | F8 | c.5988T>C (p.Asn1996=) c.5883T>C (p.Asn1961=) | |
X | g.154903916A>T | CA414905465 | F8 | c.5988T>A (p.Asn1996Lys) c.5883T>A (p.Asn1961Lys) | |
X | g.154903916dup | CA2466828132 | F8 | c.5988dup (p.Leu1997SerfsTer7) c.5883dup (p.Leu1962SerfsTer7) | dbSNP |
X | g.154903919_154903931del | CA2695237919 | F8 | c.5976_5988del (p.Met1992IlefsTer?) c.5871_5883del (p.Met1957IlefsTer?) | |
X | g.154903917T>A | CA414905469 | F8 | c.5987A>T (p.Asn1996Ile) c.5882A>T (p.Asn1961Ile) | |
X | g.154903917T>C | CA414905473 | F8 | c.5987A>G (p.Asn1996Ser) c.5882A>G (p.Asn1961Ser) | |
X | g.154903917T>G | CA414905474 | F8 | c.5987A>C (p.Asn1996Thr) c.5882A>C (p.Asn1961Thr) | |
X | g.154903918dup | CA2695237920 | F8 | c.5987dup (p.Asn1996LysfsTer8) c.5882dup (p.Asn1961LysfsTer8) | |
X | g.154903918T>A | CA414905480 | F8 | c.5986A>T (p.Asn1996Tyr) c.5881A>T (p.Asn1961Tyr) | |
X | g.154903918T>C | CA414905481 | F8 | c.5986A>G (p.Asn1996Asp) c.5881A>G (p.Asn1961Asp) | |
X | g.154903918T>G | CA414905484 | F8 | c.5986A>C (p.Asn1996His) c.5881A>C (p.Asn1961His) | |
X | g.154903919G>A | CA519356088 | F8 | c.5985C>T (p.Tyr1995=) c.5880C>T (p.Tyr1960=) | |
X | g.154903919G>C | CA414905489 | F8 | c.5985C>G (p.Tyr1995Ter) c.5880C>G (p.Tyr1960Ter) | |
X | g.154903919G>T | CA414905487 | F8 | c.5985C>A (p.Tyr1995Ter) c.5880C>A (p.Tyr1960Ter) | |
X | g.154903927_154903958del | CA2695237922 | F8 | c.5954_5985del (p.Arg1985GlnfsTer8) c.5849_5880del (p.Arg1950GlnfsTer8) | |
X | g.154903920T>A | CA414905499 | F8 | c.5984A>T (p.Tyr1995Phe) c.5879A>T (p.Tyr1960Phe) | |
X | g.154903920T>C | CA10567920 | F8 | c.5984A>G (p.Tyr1995Cys) c.5879A>G (p.Tyr1960Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154903920T>G | CA414905508 | F8 | c.5984A>C (p.Tyr1995Ser) c.5879A>C (p.Tyr1960Ser) | |
X | g.154903920T= | CA2466828133 | F8 | c.5984A= (p.Tyr1995=) c.5879A= (p.Tyr1960=) | |
X | g.154903921A= | CA2466828134 | F8 | c.5983T= (p.Tyr1995=) c.5878T= (p.Tyr1960=) | |
X | g.154903921A>C | CA414905513 | F8 | c.5983T>G (p.Tyr1995Asp) c.5878T>G (p.Tyr1960Asp) | |
X | g.154903921A>G | CA414905515 | F8 | c.5983T>C (p.Tyr1995His) c.5878T>C (p.Tyr1960His) | dbSNP |
X | g.154903921A>T | CA414905525 | F8 | c.5983T>A (p.Tyr1995Asn) c.5878T>A (p.Tyr1960Asn) | |
X | g.154903922C>A | CA519356095 | F8 | c.5982G>T (p.Leu1994=) c.5877G>T (p.Leu1959=) | |
X | g.154903922C>G | CA519356094 | F8 | c.5982G>C (p.Leu1994=) c.5877G>C (p.Leu1959=) | |
X | g.154903922C>T | CA519356097 | F8 | c.5982G>A (p.Leu1994=) c.5877G>A (p.Leu1959=) | gnomAD v4 |
X | g.154903923A= | CA2466828135 | F8 | c.5981T= (p.Leu1994=) c.5876T= (p.Leu1959=) | |
X | g.154903923A>C | CA414905529 | F8 | c.5981T>G (p.Leu1994Arg) c.5876T>G (p.Leu1959Arg) | |
X | g.154903923A>G | CA414905533 | F8 | c.5981T>C (p.Leu1994Pro) c.5876T>C (p.Leu1959Pro) | dbSNP |
X | g.154903923A>T | CA414905535 | F8 | c.5981T>A (p.Leu1994Gln) c.5876T>A (p.Leu1959Gln) | |
X | g.154903924G>A | CA519356103 | F8 | c.5980C>T (p.Leu1994=) c.5875C>T (p.Leu1959=) | |
X | g.154903924G>C | CA414905538 | F8 | c.5980C>G (p.Leu1994Val) c.5875C>G (p.Leu1959Val) | |
X | g.154903924G>T | CA414905540 | F8 | c.5980C>A (p.Leu1994Met) c.5875C>A (p.Leu1959Met) | gnomAD v4 |
X | g.154903925T>A | CA519356108 | F8 | c.5979A>T (p.Ala1993=) c.5874A>T (p.Ala1958=) | |
X | g.154903925T>C | CA519356113 | F8 | c.5979A>G (p.Ala1993=) c.5874A>G (p.Ala1958=) | |
X | g.154903925T>G | CA519356115 | F8 | c.5979A>C (p.Ala1993=) c.5874A>C (p.Ala1958=) | |
X | g.154903926G>A | CA414905543 | F8 | c.5978C>T (p.Ala1993Val) c.5873C>T (p.Ala1958Val) | |
X | g.154903926G>C | CA414905547 | F8 | c.5978C>G (p.Ala1993Gly) c.5873C>G (p.Ala1958Gly) | |
X | g.154903926G>T | CA414905545 | F8 | c.5978C>A (p.Ala1993Glu) c.5873C>A (p.Ala1958Glu) | |
X | g.154903927C>A | CA10567921 | F8 | c.5977G>T (p.Ala1993Ser) c.5872G>T (p.Ala1958Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903927C= | CA2466828136 | F8 | c.5977G= (p.Ala1993=) c.5872G= (p.Ala1958=) | |
X | g.154903927C>G | CA414905552 | F8 | c.5977G>C (p.Ala1993Pro) c.5872G>C (p.Ala1958Pro) | |
X | g.154903927C>T | CA414905556 | F8 | c.5977G>A (p.Ala1993Thr) c.5872G>A (p.Ala1958Thr) | |
X | g.154903928C>A | CA414905559 | F8 | c.5976G>T (p.Met1992Ile) c.5871G>T (p.Met1957Ile) | |
X | g.154903928C= | CA2466828137 | F8 | c.5976G= (p.Met1992=) c.5871G= (p.Met1957=) | |
X | g.154903928C>G | CA414905561 | F8 | c.5976G>C (p.Met1992Ile) c.5871G>C (p.Met1957Ile) | |
X | g.154903928C>T | CA10567922 | F8 | c.5976G>A (p.Met1992Ile) c.5871G>A (p.Met1957Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903928_154903931del | CA2695237925 | F8 | c.5973_5976del (p.Met1992HisfsTer?) c.5868_5871del (p.Met1957HisfsTer?) | |
X | g.154903929A>C | CA414905573 | F8 | c.5975T>G (p.Met1992Arg) c.5870T>G (p.Met1957Arg) | |
X | g.154903929A>G | CA414905565 | F8 | c.5975T>C (p.Met1992Thr) c.5870T>C (p.Met1957Thr) | |
X | g.154903929A>T | CA414905567 | F8 | c.5975T>A (p.Met1992Lys) c.5870T>A (p.Met1957Lys) | |
X | g.154903930T>A | CA414905576 | F8 | c.5974A>T (p.Met1992Leu) c.5869A>T (p.Met1957Leu) | |
X | g.154903930T>C | CA414905577 | F8 | c.5974A>G (p.Met1992Val) c.5869A>G (p.Met1957Val) | |
X | g.154903930T>G | CA414905581 | F8 | c.5974A>C (p.Met1992Leu) c.5869A>C (p.Met1957Leu) | |
X | g.154903933dup | CA2695237926 | F8 | c.5974dup (p.Met1992AsnfsTer12) c.5869dup (p.Met1957AsnfsTer12) | |
X | g.154903931T>A | CA414905583 | F8 | c.5973A>T (p.Lys1991Asn) c.5868A>T (p.Lys1956Asn) | |
X | g.154903931T>C | CA519356124 | F8 | c.5973A>G (p.Lys1991=) c.5868A>G (p.Lys1956=) | |
X | g.154903931T>G | CA414905585 | F8 | c.5973A>C (p.Lys1991Asn) c.5868A>C (p.Lys1956Asn) | |
X | g.154903932T>A | CA414905587 | F8 | c.5972A>T (p.Lys1991Ile) c.5867A>T (p.Lys1956Ile) | |
X | g.154903932T>C | CA414905591 | F8 | c.5972A>G (p.Lys1991Arg) c.5867A>G (p.Lys1956Arg) | |
X | g.154903932T>G | CA414905589 | F8 | c.5972A>C (p.Lys1991Thr) c.5867A>C (p.Lys1956Thr) | |
X | g.154903933T>A | CA414905593 | F8 | c.5971A>T (p.Lys1991Ter) c.5866A>T (p.Lys1956Ter) | |
X | g.154903933T>C | CA414905596 | F8 | c.5971A>G (p.Lys1991Glu) c.5866A>G (p.Lys1956Glu) | |
X | g.154903933T>G | CA414905598 | F8 | c.5971A>C (p.Lys1991Gln) c.5866A>C (p.Lys1956Gln) | |
X | g.154903934A>C | CA414905599 | F8 | c.5970T>G (p.Tyr1990Ter) c.5865T>G (p.Tyr1955Ter) | |
X | g.154903934A>G | CA519356128 | F8 | c.5970T>C (p.Tyr1990=) c.5865T>C (p.Tyr1955=) | |
X | g.154903934A>T | CA414905601 | F8 | c.5970T>A (p.Tyr1990Ter) c.5865T>A (p.Tyr1955Ter) | gnomAD v4 |
X | g.154903935T>A | CA414905604 | F8 | c.5969A>T (p.Tyr1990Phe) c.5864A>T (p.Tyr1955Phe) | |
X | g.154903935T>C | CA414905606 | F8 | c.5969A>G (p.Tyr1990Cys) c.5864A>G (p.Tyr1955Cys) | |
X | g.154903935T>G | CA414905609 | F8 | c.5969A>C (p.Tyr1990Ser) c.5864A>C (p.Tyr1955Ser) | |
X | g.154903936A= | CA2466828138 | F8 | c.5968T= (p.Tyr1990=) c.5863T= (p.Tyr1955=) | |
X | g.154903936A>C | CA414905613 | F8 | c.5968T>G (p.Tyr1990Asp) c.5863T>G (p.Tyr1955Asp) | |
X | g.154903936A>G | CA414905616 | F8 | c.5968T>C (p.Tyr1990His) c.5863T>C (p.Tyr1955His) | |
X | g.154903936A>T | CA414905617 | F8 | c.5968T>A (p.Tyr1990Asn) c.5863T>A (p.Tyr1955Asn) | dbSNP |
X | g.154903937C>A | CA414905619 | F8 | c.5967G>T (p.Glu1989Asp) c.5862G>T (p.Glu1954Asp) | |
X | g.154903937C= | CA2466828139 | F8 | c.5967G= (p.Glu1989=) c.5862G= (p.Glu1954=) | |
X | g.154903937C>G | CA414905621 | F8 | c.5967G>C (p.Glu1989Asp) c.5862G>C (p.Glu1954Asp) | dbSNP |
X | g.154903937C>T | CA10567923 | F8 | c.5967G>A (p.Glu1989=) c.5862G>A (p.Glu1954=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903937_154903940dup | CA2695237928 | F8 | c.5964_5967dup (p.Tyr1990GlyfsTer3) c.5859_5862dup (p.Tyr1955GlyfsTer3) | |
X | g.154903940_154903942del | CA2695237927 | F8 | c.5965_5967del (p.Glu1989del) c.5860_5862del (p.Glu1954del) | |
X | g.154903938T>A | CA414905625 | F8 | c.5966A>T (p.Glu1989Val) c.5861A>T (p.Glu1954Val) | |
X | g.154903938T>C | CA414905629 | F8 | c.5966A>G (p.Glu1989Gly) c.5861A>G (p.Glu1954Gly) | dbSNP |
X | g.154903938T>G | CA414905630 | F8 | c.5966A>C (p.Glu1989Ala) c.5861A>C (p.Glu1954Ala) | |
X | g.154903938T= | CA2466828140 | F8 | c.5966A= (p.Glu1989=) c.5861A= (p.Glu1954=) | |
X | g.154903939C>A | CA414905632 | F8 | c.5965G>T (p.Glu1989Ter) c.5860G>T (p.Glu1954Ter) | |
X | g.154903939C>G | CA414905641 | F8 | c.5965G>C (p.Glu1989Gln) c.5860G>C (p.Glu1954Gln) | |
X | g.154903939C>T | CA414905643 | F8 | c.5965G>A (p.Glu1989Lys) c.5860G>A (p.Glu1954Lys) | |
X | g.154903939_154903944delinsCCTCTT | CA2466828141 | F8 | c.5960_5965delinsAAGAGG (p.Lys1987=) c.5855_5860delinsAAGAGG (p.Lys1952=) | |
X | g.154903940C>A | CA414905648 | F8 | c.5964G>T (p.Glu1988Asp) c.5859G>T (p.Glu1953Asp) | |
X | g.154903940C>G | CA414905649 | F8 | c.5964G>C (p.Glu1988Asp) c.5859G>C (p.Glu1953Asp) | |
X | g.154903940C>T | CA519356134 | F8 | c.5964G>A (p.Glu1988=) c.5859G>A (p.Glu1953=) | |
X | g.154903942_154903943del | CA2695237930 | F8 | c.5963_5964del (p.Glu1988GlyfsTer3) c.5858_5859del (p.Glu1953GlyfsTer3) | |
X | g.154903940_154903944del | CA913191123 | F8 | c.5960_5964del (p.Lys1987ArgfsTer3) c.5855_5859del (p.Lys1952ArgfsTer3) | ClinVar dbSNP |
X | g.154903941T>A | CA414905650 | F8 | c.5963A>T (p.Glu1988Val) c.5858A>T (p.Glu1953Val) | |
X | g.154903941T>C | CA414905651 | F8 | c.5963A>G (p.Glu1988Gly) c.5858A>G (p.Glu1953Gly) | |
X | g.154903941T>G | CA414905652 | F8 | c.5963A>C (p.Glu1988Ala) c.5858A>C (p.Glu1953Ala) | |
X | g.154903942_154903944del | CA2695237931 | F8 | c.5961_5963del (p.Glu1988del) c.5856_5858del (p.Glu1953del) | |
X | g.154903942C>A | CA414905662 | F8 | c.5962G>T (p.Glu1988Ter) c.5857G>T (p.Glu1953Ter) | |
X | g.154903942C= | CA1139532183 | F8 | c.5962G= (p.Glu1988=) c.5857G= (p.Glu1953=) | |
X | g.154903942C>G | CA414905656 | F8 | c.5962G>C (p.Glu1988Gln) c.5857G>C (p.Glu1953Gln) | |
X | g.154903942C>T | CA414905654 | F8 | c.5962G>A (p.Glu1988Lys) c.5857G>A (p.Glu1953Lys) | |
X | g.154903942_154903943delinsCT | CA2466828142 | F8 | c.5961_5962delinsAG (p.Lys1987=) c.5856_5857delinsAG (p.Lys1952=) | |
X | g.154903943T>A | CA414905665 | F8 | c.5961A>T (p.Lys1987Asn) c.5856A>T (p.Lys1952Asn) | |
X | g.154903943T>C | CA519356136 | F8 | c.5961A>G (p.Lys1987=) c.5856A>G (p.Lys1952=) | dbSNP gnomAD v4 |
X | g.154903943T>G | CA414905667 | F8 | c.5961A>C (p.Lys1987Asn) c.5856A>C (p.Lys1952Asn) | |
X | g.154903943T= | CA2466828143 | F8 | c.5961A= (p.Lys1987=) c.5856A= (p.Lys1952=) | |
X | g.154903949dup | CA645251974 | F8 | c.5961dup (p.Glu1988ArgfsTer4) c.5856dup (p.Glu1953ArgfsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.154903949del | CA255193 | F8 | c.5961del (p.Glu1988ArgfsTer?) c.5856del (p.Glu1953ArgfsTer?) | ClinVar dbSNP |
X | g.154903948_154903949del | CA2695237934 | F8 | c.5960_5961del (p.Lys1987ArgfsTer4) c.5855_5856del (p.Lys1952ArgfsTer4) | |
X | g.154903943_154903944insA | CA519356138 | F8 | c.5960_5961insT (p.Lys1987AsnfsTer5) c.5855_5856insT (p.Lys1952AsnfsTer5) | |
X | g.154903944T>A | CA414905671 | F8 | c.5960A>T (p.Lys1987Ile) c.5855A>T (p.Lys1952Ile) | |
X | g.154903944T>C | CA414905673 | F8 | c.5960A>G (p.Lys1987Arg) c.5855A>G (p.Lys1952Arg) | |
X | g.154903944T>G | CA10567924 | F8 | c.5960A>C (p.Lys1987Thr) c.5855A>C (p.Lys1952Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903944T= | CA2466828144 | F8 | c.5960A= (p.Lys1987=) c.5855A= (p.Lys1952=) | |
X | g.154903945T>A | CA414905678 | F8 | c.5959A>T (p.Lys1987Ter) c.5854A>T (p.Lys1952Ter) | |
X | g.154903945T>C | CA414905679 | F8 | c.5959A>G (p.Lys1987Glu) c.5854A>G (p.Lys1952Glu) | |
X | g.154903945T>G | CA414905680 | F8 | c.5959A>C (p.Lys1987Gln) c.5854A>C (p.Lys1952Gln) | |
X | g.154903946T>A | CA414905682 | F8 | c.5958A>T (p.Lys1986Asn) c.5853A>T (p.Lys1951Asn) | |
X | g.154903946T>C | CA519356143 | F8 | c.5958A>G (p.Lys1986=) c.5853A>G (p.Lys1951=) | |
X | g.154903946T>G | CA414905683 | F8 | c.5958A>C (p.Lys1986Asn) c.5853A>C (p.Lys1951Asn) | |
X | g.154903946_154903947insA | CA2511280745 | F8 | c.5957_5958insT (p.Lys1986AsnfsTer6) c.5852_5853insT (p.Lys1951AsnfsTer6) | |
X | g.154903947T>A | CA414905690 | F8 | c.5957A>T (p.Lys1986Ile) c.5852A>T (p.Lys1951Ile) | |
X | g.154903947T>C | CA414905695 | F8 | c.5957A>G (p.Lys1986Arg) c.5852A>G (p.Lys1951Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903947T>G | CA414905692 | F8 | c.5957A>C (p.Lys1986Thr) c.5852A>C (p.Lys1951Thr) | |
X | g.154903947T= | CA2466828145 | F8 | c.5957A= (p.Lys1986=) c.5852A= (p.Lys1951=) | |
X | g.154903948T>A | CA414905699 | F8 | c.5956A>T (p.Lys1986Ter) c.5851A>T (p.Lys1951Ter) | |
X | g.154903948T>C | CA414905703 | F8 | c.5956A>G (p.Lys1986Glu) c.5851A>G (p.Lys1951Glu) | |
X | g.154903948T>G | CA414905701 | F8 | c.5956A>C (p.Lys1986Gln) c.5851A>C (p.Lys1951Gln) | |
X | g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCT | CA2524307592 | F8 | c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1986ArgfsTer5) c.5851_5852insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1951ArgfsTer5) | |
X | g.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCT | CA2565883067 | F8 | c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1986ArgfsTer5) c.5851_5852insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1951ArgfsTer5) | |
X | g.154903949T>A | CA519356147 | F8 | c.5955A>T (p.Arg1985=) c.5850A>T (p.Arg1950=) | |
X | g.154903949T>C | CA519356149 | F8 | c.5955A>G (p.Arg1985=) c.5850A>G (p.Arg1950=) | |
X | g.154903949T>G | CA519356151 | F8 | c.5955A>C (p.Arg1985=) c.5850A>C (p.Arg1950=) | |
X | g.154903949_154903950delinsTC | CA2466828146 | F8 | c.5954_5955delinsGA (p.Arg1985=) c.5849_5850delinsGA (p.Arg1950=) | |
X | g.154903950del | CA873340639 | F8 | c.5954del (p.Arg1985GlnfsTer?) c.5849del (p.Arg1950GlnfsTer?) | ClinVar dbSNP |
X | g.154903950C>A | CA414905706 | F8 | c.5954G>T (p.Arg1985Leu) c.5849G>T (p.Arg1950Leu) | |
X | g.154903950C= | CA2466828147 | F8 | c.5954G= (p.Arg1985=) c.5849G= (p.Arg1950=) | |
X | g.154903950C>G | CA414905712 | F8 | c.5954G>C (p.Arg1985Pro) c.5849G>C (p.Arg1950Pro) | |
X | g.154903950C>T | CA414905715 | F8 | c.5954G>A (p.Arg1985Gln) c.5849G>A (p.Arg1950Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.154903950_154903956del | CA2824314858 | F8 | c.5948_5954del (p.Thr1983LysfsTer?) c.5843_5849del (p.Thr1948LysfsTer?) | |
X | g.154903950_154903959del | CA2695153029 | F8 | c.5945_5954del (p.Phe1982Ter) c.5840_5849del (p.Phe1947Ter) | gnomAD v4 |
X | g.154903951del | CA2695237941 | F8 | c.5953del (p.Arg1985GlufsTer?) c.5848del (p.Arg1950GlufsTer?) | |
X | g.154903951G>A | CA255191 | F8 | c.5953C>T (p.Arg1985Ter) c.5848C>T (p.Arg1950Ter) | ClinVar dbSNP COSMIC COSMIC |
X | g.154903951G>C | CA414905720 | F8 | c.5953C>G (p.Arg1985Gly) c.5848C>G (p.Arg1950Gly) | dbSNP |
X | g.154903951G= | CA2466828148 | F8 | c.5953C= (p.Arg1985=) c.5848C= (p.Arg1950=) | |
X | g.154903951G>T | CA519356152 | F8 | c.5953C>A (p.Arg1985=) c.5848C>A (p.Arg1950=) | |
X | g.154903952T>A | CA519356156 | F8 | c.5952A>T (p.Val1984=) c.5847A>T (p.Val1949=) | |
X | g.154903952T>C | CA519356154 | F8 | c.5952A>G (p.Val1984=) c.5847A>G (p.Val1949=) | |
X | g.154903952T>G | CA519356153 | F8 | c.5952A>C (p.Val1984=) c.5847A>C (p.Val1949=) | |
X | g.154903953A>C | CA414905724 | F8 | c.5951T>G (p.Val1984Gly) c.5846T>G (p.Val1949Gly) | |
X | g.154903953A>G | CA414905726 | F8 | c.5951T>C (p.Val1984Ala) c.5846T>C (p.Val1949Ala) | gnomAD v4 |
X | g.154903953A>T | CA414905728 | F8 | c.5951T>A (p.Val1984Glu) c.5846T>A (p.Val1949Glu) | |
X | g.154903954C>A | CA414905739 | F8 | c.5950G>T (p.Val1984Leu) c.5845G>T (p.Val1949Leu) | |
X | g.154903954C= | CA2466828149 | F8 | c.5950G= (p.Val1984=) c.5845G= (p.Val1949=) | |
X | g.154903954C>G | CA10567925 | F8 | c.5950G>C (p.Val1984Leu) c.5845G>C (p.Val1949Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154903954C>T | CA414905744 | F8 | c.5950G>A (p.Val1984Ile) c.5845G>A (p.Val1949Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154903955A>C | CA519356159 | F8 | c.5949T>G (p.Thr1983=) c.5844T>G (p.Thr1948=) | |
X | g.154903955A>G | CA519356160 | F8 | c.5949T>C (p.Thr1983=) c.5844T>C (p.Thr1948=) | |
X | g.154903955A>T | CA519356162 | F8 | c.5949T>A (p.Thr1983=) c.5844T>A (p.Thr1948=) | gnomAD v4 |
X | g.154903956G>A | CA414905745 | F8 | c.5948C>T (p.Thr1983Ile) c.5843C>T (p.Thr1948Ile) | |
X | g.154903956G>C | CA414905747 | F8 | c.5948C>G (p.Thr1983Ser) c.5843C>G (p.Thr1948Ser) | |
X | g.154903956G>T | CA414905746 | F8 | c.5948C>A (p.Thr1983Asn) c.5843C>A (p.Thr1948Asn) | |
X | g.154903957T>A | CA414905748 | F8 | c.5947A>T (p.Thr1983Ser) c.5842A>T (p.Thr1948Ser) | gnomAD v4 |
X | g.154903957T>C | CA414905752 | F8 | c.5947A>G (p.Thr1983Ala) c.5842A>G (p.Thr1948Ala) | |
X | g.154903957T>G | CA414905764 | F8 | c.5947A>C (p.Thr1983Pro) c.5842A>C (p.Thr1948Pro) | |
X | g.154903958G>A | CA519356164 | F8 | c.5946C>T (p.Phe1982=) c.5841C>T (p.Phe1947=) | |
X | g.154903958G>C | CA414905767 | F8 | c.5946C>G (p.Phe1982Leu) c.5841C>G (p.Phe1947Leu) | |
X | g.154903958G>T | CA414905769 | F8 | c.5946C>A (p.Phe1982Leu) c.5841C>A (p.Phe1947Leu) |