Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.154903893A>GCA2579744512F8c.5998+13T>C (n.5998+13T>C)
c.5893+13T>C (n.5893+13T>C)
 gnomAD v4
Xg.154903895C>ACA2466828124F8c.5998+11G>T (n.5998+11G>T)
c.5893+11G>T (n.5893+11G>T)
 dbSNP
Xg.154903895C=CA2466828123F8c.5998+11G= (n.5998+11G=)
c.5893+11G= (n.5893+11G=)
Xg.154903895C>TCA337318236F8c.5998+11G>A (n.5998+11G>A)
c.5893+11G>A (n.5893+11G>A)
 dbSNP gnomAD v4
Xg.154903899C=CA2466828125F8c.5998+7G= (n.5998+7G=)
c.5893+7G= (n.5893+7G=)
Xg.154903899C>GCA645251968F8c.5998+7G>C (n.5998+7G>C)
c.5893+7G>C (n.5893+7G>C)
 dbSNP gnomAD v2 gnomAD v4
Xg.154903899C>TCA2695153028F8c.5998+7G>A (n.5998+7G>A)
c.5893+7G>A (n.5893+7G>A)
 gnomAD v4
Xg.154903901C>TCA645614542F8c.5998+5G>A (n.5998+5G>A)
c.5893+5G>A (n.5893+5G>A)
 COSMIC COSMIC
Xg.154903902A>CCA2579744513F8c.5998+4T>G (n.5998+4T>G)
c.5893+4T>G (n.5893+4T>G)
Xg.154903903T>ACA2695237916F8c.5998+3A>T (n.5998+3A>T)
c.5893+3A>T (n.5893+3A>T)
Xg.154903903T>GCA2695237915F8c.5998+3A>C (n.5998+3A>C)
c.5893+3A>C (n.5893+3A>C)
Xg.154903904A=CA2466828126F8c.5998+2T= (n.5998+2T=)
c.5893+2T= (n.5893+2T=)
Xg.154903904A>CCA414905388F8c.5998+2T>G (n.5998+2T>G)
c.5893+2T>G (n.5893+2T>G)
Xg.154903904A>GCA414905382F8c.5998+2T>C (n.5998+2T>C)
c.5893+2T>C (n.5893+2T>C)
 dbSNP
Xg.154903904A>TCA414905379F8c.5998+2T>A (n.5998+2T>A)
c.5893+2T>A (n.5893+2T>A)
Xg.154903905C>ACA414905391F8c.5998+1G>T (n.5998+1G>T)
c.5893+1G>T (n.5893+1G>T)
Xg.154903905C=CA2466828127F8c.5998+1G= (n.5998+1G=)
c.5893+1G= (n.5893+1G=)
Xg.154903905C>GCA414905392F8c.5998+1G>C (n.5998+1G>C)
c.5893+1G>C (n.5893+1G>C)
 dbSNP
Xg.154903905C>TCA414905395F8c.5998+1G>A (n.5998+1G>A)
c.5893+1G>A (n.5893+1G>A)
Xg.154903906C>ACA414905399F8c.5998G>T (p.Gly2000Cys)
c.5893G>T (p.Gly1965Cys)
Xg.154903906C=CA2466828128F8c.5998G= (p.Gly2000=)
c.5893G= (p.Gly1965=)
Xg.154903906C>GCA414905403F8c.5998G>C (p.Gly2000Arg)
c.5893G>C (p.Gly1965Arg)
 dbSNP
Xg.154903906C>TCA414905404F8c.5998G>A (p.Gly2000Ser)
c.5893G>A (p.Gly1965Ser)
Xg.154903907T>ACA519356062F8c.5997A>T (p.Pro1999=)
c.5892A>T (p.Pro1964=)
Xg.154903907T>CCA519356065F8c.5997A>G (p.Pro1999=)
c.5892A>G (p.Pro1964=)
Xg.154903907T>GCA519356063F8c.5997A>C (p.Pro1999=)
c.5892A>C (p.Pro1964=)
Xg.154903908G>ACA414905407F8c.5996C>T (p.Pro1999Leu)
c.5891C>T (p.Pro1964Leu)
Xg.154903908G>CCA414905412F8c.5996C>G (p.Pro1999Arg)
c.5891C>G (p.Pro1964Arg)
Xg.154903908G>TCA414905409F8c.5996C>A (p.Pro1999Gln)
c.5891C>A (p.Pro1964Gln)
Xg.154903909G>ACA414905415F8c.5995C>T (p.Pro1999Ser)
c.5890C>T (p.Pro1964Ser)
Xg.154903909G>CCA414905420F8c.5995C>G (p.Pro1999Ala)
c.5890C>G (p.Pro1964Ala)
Xg.154903909G>TCA414905423F8c.5995C>A (p.Pro1999Thr)
c.5890C>A (p.Pro1964Thr)
Xg.154903910delCA2580101787F8c.5994del (p.Pro1999GlnfsTer?)
c.5889del (p.Pro1964GlnfsTer?)
 ClinVar
Xg.154903910A=CA2466828129F8c.5994T= (p.Tyr1998=)
c.5889T= (p.Tyr1963=)
Xg.154903910A>CCA414905425F8c.5994T>G (p.Tyr1998Ter)
c.5889T>G (p.Tyr1963Ter)
Xg.154903910A>GCA519356068F8c.5994T>C (p.Tyr1998=)
c.5889T>C (p.Tyr1963=)
Xg.154903910A>TCA414905426F8c.5994T>A (p.Tyr1998Ter)
c.5889T>A (p.Tyr1963Ter)
 dbSNP
Xg.154903911T>ACA414905427F8c.5993A>T (p.Tyr1998Phe)
c.5888A>T (p.Tyr1963Phe)
 ClinVar dbSNP gnomAD v4
Xg.154903911T>CCA414905428F8c.5993A>G (p.Tyr1998Cys)
c.5888A>G (p.Tyr1963Cys)
 dbSNP
Xg.154903911T>GCA414905429F8c.5993A>C (p.Tyr1998Ser)
c.5888A>C (p.Tyr1963Ser)
Xg.154903911T=CA2466828130F8c.5993A= (p.Tyr1998=)
c.5888A= (p.Tyr1963=)
Xg.154903912A>CCA414905430F8c.5992T>G (p.Tyr1998Asp)
c.5887T>G (p.Tyr1963Asp)
 gnomAD v4
Xg.154903912A>GCA414905432F8c.5992T>C (p.Tyr1998His)
c.5887T>C (p.Tyr1963His)
Xg.154903912A>TCA414905434F8c.5992T>A (p.Tyr1998Asn)
c.5887T>A (p.Tyr1963Asn)
Xg.154903915_154903916delCA2695237917F8c.5991_5992del (p.Tyr1998SerfsTer5)
c.5886_5887del (p.Tyr1963SerfsTer5)
Xg.154903913G>ACA519356074F8c.5991C>T (p.Leu1997=)
c.5886C>T (p.Leu1962=)
 COSMIC COSMIC
Xg.154903913G>CCA519356075F8c.5991C>G (p.Leu1997=)
c.5886C>G (p.Leu1962=)
Xg.154903913G>TCA519356076F8c.5991C>A (p.Leu1997=)
c.5886C>A (p.Leu1962=)
Xg.154903914A>CCA414905444F8c.5990T>G (p.Leu1997Arg)
c.5885T>G (p.Leu1962Arg)
Xg.154903914A>GCA414905455F8c.5990T>C (p.Leu1997Pro)
c.5885T>C (p.Leu1962Pro)
Xg.154903914A>TCA414905447F8c.5990T>A (p.Leu1997His)
c.5885T>A (p.Leu1962His)
Xg.154903915G>ACA414905457F8c.5989C>T (p.Leu1997Phe)
c.5884C>T (p.Leu1962Phe)
Xg.154903915G>CCA414905458F8c.5989C>G (p.Leu1997Val)
c.5884C>G (p.Leu1962Val)
Xg.154903915G=CA2466828131F8c.5989C= (p.Leu1997=)
c.5884C= (p.Leu1962=)
Xg.154903915G>TCA414905462F8c.5989C>A (p.Leu1997Ile)
c.5884C>A (p.Leu1962Ile)
 dbSNP
Xg.154903916A>CCA414905464F8c.5988T>G (p.Asn1996Lys)
c.5883T>G (p.Asn1961Lys)
Xg.154903916A>GCA519356082F8c.5988T>C (p.Asn1996=)
c.5883T>C (p.Asn1961=)
Xg.154903916A>TCA414905465F8c.5988T>A (p.Asn1996Lys)
c.5883T>A (p.Asn1961Lys)
Xg.154903916dupCA2466828132F8c.5988dup (p.Leu1997SerfsTer7)
c.5883dup (p.Leu1962SerfsTer7)
 dbSNP
Xg.154903919_154903931delCA2695237919F8c.5976_5988del (p.Met1992IlefsTer?)
c.5871_5883del (p.Met1957IlefsTer?)
Xg.154903917T>ACA414905469F8c.5987A>T (p.Asn1996Ile)
c.5882A>T (p.Asn1961Ile)
Xg.154903917T>CCA414905473F8c.5987A>G (p.Asn1996Ser)
c.5882A>G (p.Asn1961Ser)
Xg.154903917T>GCA414905474F8c.5987A>C (p.Asn1996Thr)
c.5882A>C (p.Asn1961Thr)
Xg.154903918dupCA2695237920F8c.5987dup (p.Asn1996LysfsTer8)
c.5882dup (p.Asn1961LysfsTer8)
Xg.154903918T>ACA414905480F8c.5986A>T (p.Asn1996Tyr)
c.5881A>T (p.Asn1961Tyr)
Xg.154903918T>CCA414905481F8c.5986A>G (p.Asn1996Asp)
c.5881A>G (p.Asn1961Asp)
Xg.154903918T>GCA414905484F8c.5986A>C (p.Asn1996His)
c.5881A>C (p.Asn1961His)
Xg.154903919G>ACA519356088F8c.5985C>T (p.Tyr1995=)
c.5880C>T (p.Tyr1960=)
Xg.154903919G>CCA414905489F8c.5985C>G (p.Tyr1995Ter)
c.5880C>G (p.Tyr1960Ter)
Xg.154903919G>TCA414905487F8c.5985C>A (p.Tyr1995Ter)
c.5880C>A (p.Tyr1960Ter)
Xg.154903927_154903958delCA2695237922F8c.5954_5985del (p.Arg1985GlnfsTer8)
c.5849_5880del (p.Arg1950GlnfsTer8)
Xg.154903920T>ACA414905499F8c.5984A>T (p.Tyr1995Phe)
c.5879A>T (p.Tyr1960Phe)
Xg.154903920T>CCA10567920F8c.5984A>G (p.Tyr1995Cys)
c.5879A>G (p.Tyr1960Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.154903920T>GCA414905508F8c.5984A>C (p.Tyr1995Ser)
c.5879A>C (p.Tyr1960Ser)
Xg.154903920T=CA2466828133F8c.5984A= (p.Tyr1995=)
c.5879A= (p.Tyr1960=)
Xg.154903921A=CA2466828134F8c.5983T= (p.Tyr1995=)
c.5878T= (p.Tyr1960=)
Xg.154903921A>CCA414905513F8c.5983T>G (p.Tyr1995Asp)
c.5878T>G (p.Tyr1960Asp)
Xg.154903921A>GCA414905515F8c.5983T>C (p.Tyr1995His)
c.5878T>C (p.Tyr1960His)
 dbSNP
Xg.154903921A>TCA414905525F8c.5983T>A (p.Tyr1995Asn)
c.5878T>A (p.Tyr1960Asn)
Xg.154903922C>ACA519356095F8c.5982G>T (p.Leu1994=)
c.5877G>T (p.Leu1959=)
Xg.154903922C>GCA519356094F8c.5982G>C (p.Leu1994=)
c.5877G>C (p.Leu1959=)
Xg.154903922C>TCA519356097F8c.5982G>A (p.Leu1994=)
c.5877G>A (p.Leu1959=)
 gnomAD v4
Xg.154903923A=CA2466828135F8c.5981T= (p.Leu1994=)
c.5876T= (p.Leu1959=)
Xg.154903923A>CCA414905529F8c.5981T>G (p.Leu1994Arg)
c.5876T>G (p.Leu1959Arg)
Xg.154903923A>GCA414905533F8c.5981T>C (p.Leu1994Pro)
c.5876T>C (p.Leu1959Pro)
 dbSNP
Xg.154903923A>TCA414905535F8c.5981T>A (p.Leu1994Gln)
c.5876T>A (p.Leu1959Gln)
Xg.154903924G>ACA519356103F8c.5980C>T (p.Leu1994=)
c.5875C>T (p.Leu1959=)
Xg.154903924G>CCA414905538F8c.5980C>G (p.Leu1994Val)
c.5875C>G (p.Leu1959Val)
Xg.154903924G>TCA414905540F8c.5980C>A (p.Leu1994Met)
c.5875C>A (p.Leu1959Met)
 gnomAD v4
Xg.154903925T>ACA519356108F8c.5979A>T (p.Ala1993=)
c.5874A>T (p.Ala1958=)
Xg.154903925T>CCA519356113F8c.5979A>G (p.Ala1993=)
c.5874A>G (p.Ala1958=)
Xg.154903925T>GCA519356115F8c.5979A>C (p.Ala1993=)
c.5874A>C (p.Ala1958=)
Xg.154903926G>ACA414905543F8c.5978C>T (p.Ala1993Val)
c.5873C>T (p.Ala1958Val)
Xg.154903926G>CCA414905547F8c.5978C>G (p.Ala1993Gly)
c.5873C>G (p.Ala1958Gly)
Xg.154903926G>TCA414905545F8c.5978C>A (p.Ala1993Glu)
c.5873C>A (p.Ala1958Glu)
Xg.154903927C>ACA10567921F8c.5977G>T (p.Ala1993Ser)
c.5872G>T (p.Ala1958Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903927C=CA2466828136F8c.5977G= (p.Ala1993=)
c.5872G= (p.Ala1958=)
Xg.154903927C>GCA414905552F8c.5977G>C (p.Ala1993Pro)
c.5872G>C (p.Ala1958Pro)
Xg.154903927C>TCA414905556F8c.5977G>A (p.Ala1993Thr)
c.5872G>A (p.Ala1958Thr)
Xg.154903928C>ACA414905559F8c.5976G>T (p.Met1992Ile)
c.5871G>T (p.Met1957Ile)
Xg.154903928C=CA2466828137F8c.5976G= (p.Met1992=)
c.5871G= (p.Met1957=)
Xg.154903928C>GCA414905561F8c.5976G>C (p.Met1992Ile)
c.5871G>C (p.Met1957Ile)
Xg.154903928C>TCA10567922F8c.5976G>A (p.Met1992Ile)
c.5871G>A (p.Met1957Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903928_154903931delCA2695237925F8c.5973_5976del (p.Met1992HisfsTer?)
c.5868_5871del (p.Met1957HisfsTer?)
Xg.154903929A>CCA414905573F8c.5975T>G (p.Met1992Arg)
c.5870T>G (p.Met1957Arg)
Xg.154903929A>GCA414905565F8c.5975T>C (p.Met1992Thr)
c.5870T>C (p.Met1957Thr)
Xg.154903929A>TCA414905567F8c.5975T>A (p.Met1992Lys)
c.5870T>A (p.Met1957Lys)
Xg.154903930T>ACA414905576F8c.5974A>T (p.Met1992Leu)
c.5869A>T (p.Met1957Leu)
Xg.154903930T>CCA414905577F8c.5974A>G (p.Met1992Val)
c.5869A>G (p.Met1957Val)
Xg.154903930T>GCA414905581F8c.5974A>C (p.Met1992Leu)
c.5869A>C (p.Met1957Leu)
Xg.154903933dupCA2695237926F8c.5974dup (p.Met1992AsnfsTer12)
c.5869dup (p.Met1957AsnfsTer12)
Xg.154903931T>ACA414905583F8c.5973A>T (p.Lys1991Asn)
c.5868A>T (p.Lys1956Asn)
Xg.154903931T>CCA519356124F8c.5973A>G (p.Lys1991=)
c.5868A>G (p.Lys1956=)
Xg.154903931T>GCA414905585F8c.5973A>C (p.Lys1991Asn)
c.5868A>C (p.Lys1956Asn)
Xg.154903932T>ACA414905587F8c.5972A>T (p.Lys1991Ile)
c.5867A>T (p.Lys1956Ile)
Xg.154903932T>CCA414905591F8c.5972A>G (p.Lys1991Arg)
c.5867A>G (p.Lys1956Arg)
Xg.154903932T>GCA414905589F8c.5972A>C (p.Lys1991Thr)
c.5867A>C (p.Lys1956Thr)
Xg.154903933T>ACA414905593F8c.5971A>T (p.Lys1991Ter)
c.5866A>T (p.Lys1956Ter)
Xg.154903933T>CCA414905596F8c.5971A>G (p.Lys1991Glu)
c.5866A>G (p.Lys1956Glu)
Xg.154903933T>GCA414905598F8c.5971A>C (p.Lys1991Gln)
c.5866A>C (p.Lys1956Gln)
Xg.154903934A>CCA414905599F8c.5970T>G (p.Tyr1990Ter)
c.5865T>G (p.Tyr1955Ter)
Xg.154903934A>GCA519356128F8c.5970T>C (p.Tyr1990=)
c.5865T>C (p.Tyr1955=)
Xg.154903934A>TCA414905601F8c.5970T>A (p.Tyr1990Ter)
c.5865T>A (p.Tyr1955Ter)
 gnomAD v4
Xg.154903935T>ACA414905604F8c.5969A>T (p.Tyr1990Phe)
c.5864A>T (p.Tyr1955Phe)
Xg.154903935T>CCA414905606F8c.5969A>G (p.Tyr1990Cys)
c.5864A>G (p.Tyr1955Cys)
Xg.154903935T>GCA414905609F8c.5969A>C (p.Tyr1990Ser)
c.5864A>C (p.Tyr1955Ser)
Xg.154903936A=CA2466828138F8c.5968T= (p.Tyr1990=)
c.5863T= (p.Tyr1955=)
Xg.154903936A>CCA414905613F8c.5968T>G (p.Tyr1990Asp)
c.5863T>G (p.Tyr1955Asp)
Xg.154903936A>GCA414905616F8c.5968T>C (p.Tyr1990His)
c.5863T>C (p.Tyr1955His)
Xg.154903936A>TCA414905617F8c.5968T>A (p.Tyr1990Asn)
c.5863T>A (p.Tyr1955Asn)
 dbSNP
Xg.154903937C>ACA414905619F8c.5967G>T (p.Glu1989Asp)
c.5862G>T (p.Glu1954Asp)
Xg.154903937C=CA2466828139F8c.5967G= (p.Glu1989=)
c.5862G= (p.Glu1954=)
Xg.154903937C>GCA414905621F8c.5967G>C (p.Glu1989Asp)
c.5862G>C (p.Glu1954Asp)
 dbSNP
Xg.154903937C>TCA10567923F8c.5967G>A (p.Glu1989=)
c.5862G>A (p.Glu1954=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903937_154903940dupCA2695237928F8c.5964_5967dup (p.Tyr1990GlyfsTer3)
c.5859_5862dup (p.Tyr1955GlyfsTer3)
Xg.154903940_154903942delCA2695237927F8c.5965_5967del (p.Glu1989del)
c.5860_5862del (p.Glu1954del)
Xg.154903938T>ACA414905625F8c.5966A>T (p.Glu1989Val)
c.5861A>T (p.Glu1954Val)
Xg.154903938T>CCA414905629F8c.5966A>G (p.Glu1989Gly)
c.5861A>G (p.Glu1954Gly)
 dbSNP
Xg.154903938T>GCA414905630F8c.5966A>C (p.Glu1989Ala)
c.5861A>C (p.Glu1954Ala)
Xg.154903938T=CA2466828140F8c.5966A= (p.Glu1989=)
c.5861A= (p.Glu1954=)
Xg.154903939C>ACA414905632F8c.5965G>T (p.Glu1989Ter)
c.5860G>T (p.Glu1954Ter)
Xg.154903939C>GCA414905641F8c.5965G>C (p.Glu1989Gln)
c.5860G>C (p.Glu1954Gln)
Xg.154903939C>TCA414905643F8c.5965G>A (p.Glu1989Lys)
c.5860G>A (p.Glu1954Lys)
Xg.154903939_154903944delinsCCTCTTCA2466828141F8c.5960_5965delinsAAGAGG (p.Lys1987=)
c.5855_5860delinsAAGAGG (p.Lys1952=)
Xg.154903940C>ACA414905648F8c.5964G>T (p.Glu1988Asp)
c.5859G>T (p.Glu1953Asp)
Xg.154903940C>GCA414905649F8c.5964G>C (p.Glu1988Asp)
c.5859G>C (p.Glu1953Asp)
Xg.154903940C>TCA519356134F8c.5964G>A (p.Glu1988=)
c.5859G>A (p.Glu1953=)
Xg.154903942_154903943delCA2695237930F8c.5963_5964del (p.Glu1988GlyfsTer3)
c.5858_5859del (p.Glu1953GlyfsTer3)
Xg.154903940_154903944delCA913191123F8c.5960_5964del (p.Lys1987ArgfsTer3)
c.5855_5859del (p.Lys1952ArgfsTer3)
 ClinVar dbSNP
Xg.154903941T>ACA414905650F8c.5963A>T (p.Glu1988Val)
c.5858A>T (p.Glu1953Val)
Xg.154903941T>CCA414905651F8c.5963A>G (p.Glu1988Gly)
c.5858A>G (p.Glu1953Gly)
Xg.154903941T>GCA414905652F8c.5963A>C (p.Glu1988Ala)
c.5858A>C (p.Glu1953Ala)
Xg.154903942_154903944delCA2695237931F8c.5961_5963del (p.Glu1988del)
c.5856_5858del (p.Glu1953del)
Xg.154903942C>ACA414905662F8c.5962G>T (p.Glu1988Ter)
c.5857G>T (p.Glu1953Ter)
Xg.154903942C=CA1139532183F8c.5962G= (p.Glu1988=)
c.5857G= (p.Glu1953=)
Xg.154903942C>GCA414905656F8c.5962G>C (p.Glu1988Gln)
c.5857G>C (p.Glu1953Gln)
Xg.154903942C>TCA414905654F8c.5962G>A (p.Glu1988Lys)
c.5857G>A (p.Glu1953Lys)
Xg.154903942_154903943delinsCTCA2466828142F8c.5961_5962delinsAG (p.Lys1987=)
c.5856_5857delinsAG (p.Lys1952=)
Xg.154903943T>ACA414905665F8c.5961A>T (p.Lys1987Asn)
c.5856A>T (p.Lys1952Asn)
Xg.154903943T>CCA519356136F8c.5961A>G (p.Lys1987=)
c.5856A>G (p.Lys1952=)
 dbSNP gnomAD v4
Xg.154903943T>GCA414905667F8c.5961A>C (p.Lys1987Asn)
c.5856A>C (p.Lys1952Asn)
Xg.154903943T=CA2466828143F8c.5961A= (p.Lys1987=)
c.5856A= (p.Lys1952=)
Xg.154903949dupCA645251974F8c.5961dup (p.Glu1988ArgfsTer4)
c.5856dup (p.Glu1953ArgfsTer4)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.154903949delCA255193F8c.5961del (p.Glu1988ArgfsTer?)
c.5856del (p.Glu1953ArgfsTer?)
 ClinVar dbSNP
Xg.154903948_154903949delCA2695237934F8c.5960_5961del (p.Lys1987ArgfsTer4)
c.5855_5856del (p.Lys1952ArgfsTer4)
Xg.154903943_154903944insACA519356138F8c.5960_5961insT (p.Lys1987AsnfsTer5)
c.5855_5856insT (p.Lys1952AsnfsTer5)
Xg.154903944T>ACA414905671F8c.5960A>T (p.Lys1987Ile)
c.5855A>T (p.Lys1952Ile)
Xg.154903944T>CCA414905673F8c.5960A>G (p.Lys1987Arg)
c.5855A>G (p.Lys1952Arg)
Xg.154903944T>GCA10567924F8c.5960A>C (p.Lys1987Thr)
c.5855A>C (p.Lys1952Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903944T=CA2466828144F8c.5960A= (p.Lys1987=)
c.5855A= (p.Lys1952=)
Xg.154903945T>ACA414905678F8c.5959A>T (p.Lys1987Ter)
c.5854A>T (p.Lys1952Ter)
Xg.154903945T>CCA414905679F8c.5959A>G (p.Lys1987Glu)
c.5854A>G (p.Lys1952Glu)
Xg.154903945T>GCA414905680F8c.5959A>C (p.Lys1987Gln)
c.5854A>C (p.Lys1952Gln)
Xg.154903946T>ACA414905682F8c.5958A>T (p.Lys1986Asn)
c.5853A>T (p.Lys1951Asn)
Xg.154903946T>CCA519356143F8c.5958A>G (p.Lys1986=)
c.5853A>G (p.Lys1951=)
Xg.154903946T>GCA414905683F8c.5958A>C (p.Lys1986Asn)
c.5853A>C (p.Lys1951Asn)
Xg.154903946_154903947insACA2511280745F8c.5957_5958insT (p.Lys1986AsnfsTer6)
c.5852_5853insT (p.Lys1951AsnfsTer6)
Xg.154903947T>ACA414905690F8c.5957A>T (p.Lys1986Ile)
c.5852A>T (p.Lys1951Ile)
Xg.154903947T>CCA414905695F8c.5957A>G (p.Lys1986Arg)
c.5852A>G (p.Lys1951Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903947T>GCA414905692F8c.5957A>C (p.Lys1986Thr)
c.5852A>C (p.Lys1951Thr)
Xg.154903947T=CA2466828145F8c.5957A= (p.Lys1986=)
c.5852A= (p.Lys1951=)
Xg.154903948T>ACA414905699F8c.5956A>T (p.Lys1986Ter)
c.5851A>T (p.Lys1951Ter)
Xg.154903948T>CCA414905703F8c.5956A>G (p.Lys1986Glu)
c.5851A>G (p.Lys1951Glu)
Xg.154903948T>GCA414905701F8c.5956A>C (p.Lys1986Gln)
c.5851A>C (p.Lys1951Gln)
Xg.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCAAGTTTTTCCAATAGGCGCCCGCTAATACTTCCTTCTCA2524307592F8c.5956_5957insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1986ArgfsTer5)
c.5851_5852insGAAGGAAGTATTAGCGGGCGCCTATTGGAAAAACTTGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1951ArgfsTer5)
Xg.154903948_154903949insATCATATACCAATGTATGTAGCTGCGGCAAAGGTCTTACGTTATTGAACGCAGGATCCTGATAAACTTTGTCCCATAGCCATCCTAGTTTTTCCAGTAGGCGACCGCTAATACTTCCTTCTCA2565883067F8c.5956_5957insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1986ArgfsTer5)
c.5851_5852insGAAGGAAGTATTAGCGGTCGCCTACTGGAAAAACTAGGATGGCTATGGGACAAAGTTTATCAGGATCCTGCGTTCAATAACGTAAGACCTTTGCCGCAGCTACATACATTGGTATATGATA (p.Lys1951ArgfsTer5)
Xg.154903949T>ACA519356147F8c.5955A>T (p.Arg1985=)
c.5850A>T (p.Arg1950=)
Xg.154903949T>CCA519356149F8c.5955A>G (p.Arg1985=)
c.5850A>G (p.Arg1950=)
Xg.154903949T>GCA519356151F8c.5955A>C (p.Arg1985=)
c.5850A>C (p.Arg1950=)
Xg.154903949_154903950delinsTCCA2466828146F8c.5954_5955delinsGA (p.Arg1985=)
c.5849_5850delinsGA (p.Arg1950=)
Xg.154903950delCA873340639F8c.5954del (p.Arg1985GlnfsTer?)
c.5849del (p.Arg1950GlnfsTer?)
 ClinVar dbSNP
Xg.154903950C>ACA414905706F8c.5954G>T (p.Arg1985Leu)
c.5849G>T (p.Arg1950Leu)
Xg.154903950C=CA2466828147F8c.5954G= (p.Arg1985=)
c.5849G= (p.Arg1950=)
Xg.154903950C>GCA414905712F8c.5954G>C (p.Arg1985Pro)
c.5849G>C (p.Arg1950Pro)
Xg.154903950C>TCA414905715F8c.5954G>A (p.Arg1985Gln)
c.5849G>A (p.Arg1950Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.154903950_154903956delCA2824314858F8c.5948_5954del (p.Thr1983LysfsTer?)
c.5843_5849del (p.Thr1948LysfsTer?)
Xg.154903950_154903959delCA2695153029F8c.5945_5954del (p.Phe1982Ter)
c.5840_5849del (p.Phe1947Ter)
 gnomAD v4
Xg.154903951delCA2695237941F8c.5953del (p.Arg1985GlufsTer?)
c.5848del (p.Arg1950GlufsTer?)
Xg.154903951G>ACA255191F8c.5953C>T (p.Arg1985Ter)
c.5848C>T (p.Arg1950Ter)
 ClinVar dbSNP COSMIC COSMIC
Xg.154903951G>CCA414905720F8c.5953C>G (p.Arg1985Gly)
c.5848C>G (p.Arg1950Gly)
 dbSNP
Xg.154903951G=CA2466828148F8c.5953C= (p.Arg1985=)
c.5848C= (p.Arg1950=)
Xg.154903951G>TCA519356152F8c.5953C>A (p.Arg1985=)
c.5848C>A (p.Arg1950=)
Xg.154903952T>ACA519356156F8c.5952A>T (p.Val1984=)
c.5847A>T (p.Val1949=)
Xg.154903952T>CCA519356154F8c.5952A>G (p.Val1984=)
c.5847A>G (p.Val1949=)
Xg.154903952T>GCA519356153F8c.5952A>C (p.Val1984=)
c.5847A>C (p.Val1949=)
Xg.154903953A>CCA414905724F8c.5951T>G (p.Val1984Gly)
c.5846T>G (p.Val1949Gly)
Xg.154903953A>GCA414905726F8c.5951T>C (p.Val1984Ala)
c.5846T>C (p.Val1949Ala)
 gnomAD v4
Xg.154903953A>TCA414905728F8c.5951T>A (p.Val1984Glu)
c.5846T>A (p.Val1949Glu)
Xg.154903954C>ACA414905739F8c.5950G>T (p.Val1984Leu)
c.5845G>T (p.Val1949Leu)
Xg.154903954C=CA2466828149F8c.5950G= (p.Val1984=)
c.5845G= (p.Val1949=)
Xg.154903954C>GCA10567925F8c.5950G>C (p.Val1984Leu)
c.5845G>C (p.Val1949Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903954C>TCA414905744F8c.5950G>A (p.Val1984Ile)
c.5845G>A (p.Val1949Ile)
 dbSNP gnomAD v4 COSMIC COSMIC
Xg.154903955A>CCA519356159F8c.5949T>G (p.Thr1983=)
c.5844T>G (p.Thr1948=)
Xg.154903955A>GCA519356160F8c.5949T>C (p.Thr1983=)
c.5844T>C (p.Thr1948=)
Xg.154903955A>TCA519356162F8c.5949T>A (p.Thr1983=)
c.5844T>A (p.Thr1948=)
 gnomAD v4
Xg.154903956G>ACA414905745F8c.5948C>T (p.Thr1983Ile)
c.5843C>T (p.Thr1948Ile)
Xg.154903956G>CCA414905747F8c.5948C>G (p.Thr1983Ser)
c.5843C>G (p.Thr1948Ser)
Xg.154903956G>TCA414905746F8c.5948C>A (p.Thr1983Asn)
c.5843C>A (p.Thr1948Asn)
Xg.154903957T>ACA414905748F8c.5947A>T (p.Thr1983Ser)
c.5842A>T (p.Thr1948Ser)
 gnomAD v4
Xg.154903957T>CCA414905752F8c.5947A>G (p.Thr1983Ala)
c.5842A>G (p.Thr1948Ala)
Xg.154903957T>GCA414905764F8c.5947A>C (p.Thr1983Pro)
c.5842A>C (p.Thr1948Pro)
Xg.154903958G>ACA519356164F8c.5946C>T (p.Phe1982=)
c.5841C>T (p.Phe1947=)
Xg.154903958G>CCA414905767F8c.5946C>G (p.Phe1982Leu)
c.5841C>G (p.Phe1947Leu)
Xg.154903958G>TCA414905769F8c.5946C>A (p.Phe1982Leu)
c.5841C>A (p.Phe1947Leu)
Xg.154903959A>CCA414905775F8c.5945T>G (p.Phe1982Cys)
c.5840T>G (p.Phe1947Cys)
Xg.154903959A>GCA414905778F8c.5945T>C (p.Phe1982Ser)
c.5840T>C (p.Phe1947Ser)
Xg.154903959A>TCA414905784F8c.5945T>A (p.Phe1982Tyr)
c.5840T>A (p.Phe1947Tyr)
Xg.154903960A=CA2466828150F8c.5944T= (p.Phe1982=)
c.5839T= (p.Phe1947=)
Xg.154903960A>CCA414905788F8c.5944T>G (p.Phe1982Val)
c.5839T>G (p.Phe1947Val)
Xg.154903960A>GCA414905790F8c.5944T>C (p.Phe1982Leu)
c.5839T>C (p.Phe1947Leu)
Xg.154903960A>TCA414905786F8c.5944T>A (p.Phe1982Ile)
c.5839T>A (p.Phe1947Ile)
 dbSNP
Xg.154903961C>ACA519356180F8c.5943G>T (p.Val1981=)
c.5838G>T (p.Val1946=)
Xg.154903961C>GCA519356182F8c.5943G>C (p.Val1981=)
c.5838G>C (p.Val1946=)
Xg.154903961C>TCA519356184F8c.5943G>A (p.Val1981=)
c.5838G>A (p.Val1946=)
Xg.154903962A>CCA414905795F8c.5942T>G (p.Val1981Gly)
c.5837T>G (p.Val1946Gly)
 gnomAD v4
Xg.154903962A>GCA414905797F8c.5942T>C (p.Val1981Ala)
c.5837T>C (p.Val1946Ala)
Xg.154903962A>TCA414905799F8c.5942T>A (p.Val1981Glu)
c.5837T>A (p.Val1946Glu)
Xg.154903963C>ACA414905800F8c.5941G>T (p.Val1981Leu)
c.5836G>T (p.Val1946Leu)
Xg.154903963C=CA2466828151F8c.5941G= (p.Val1981=)
c.5836G= (p.Val1946=)
Xg.154903963C>GCA414905801F8c.5941G>C (p.Val1981Leu)
c.5836G>C (p.Val1946Leu)
Xg.154903963C>TCA414905803F8c.5941G>A (p.Val1981Met)
c.5836G>A (p.Val1946Met)
 ClinVar dbSNP
Xg.154903963dupCA2695237945F8c.5941dup (p.Val1981GlyfsTer11)
c.5836dup (p.Val1946GlyfsTer11)
Xg.154903964A=CA2466828152F8c.5940T= (p.His1980=)
c.5835T= (p.His1945=)
Xg.154903964A>CCA414905807F8c.5940T>G (p.His1980Gln)
c.5835T>G (p.His1945Gln)
Xg.154903964A>GCA519356192F8c.5940T>C (p.His1980=)
c.5835T>C (p.His1945=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.154903964A>TCA414905814F8c.5940T>A (p.His1980Gln)
c.5835T>A (p.His1945Gln)
Xg.154903964_154903965delCA2580101792F8c.5939_5940del (p.His1980ArgfsTer11)
c.5834_5835del (p.His1945ArgfsTer11)
 ClinVar
Xg.154903965T>ACA414905817F8c.5939A>T (p.His1980Leu)
c.5834A>T (p.His1945Leu)
Xg.154903965T>CCA414905820F8c.5939A>G (p.His1980Arg)
c.5834A>G (p.His1945Arg)
 ClinVar dbSNP
Xg.154903965T>GCA414905823F8c.5939A>C (p.His1980Pro)
c.5834A>C (p.His1945Pro)
Xg.154903965T=CA2466828153F8c.5939A= (p.His1980=)
c.5834A= (p.His1945=)
Xg.154903966G>ACA255190F8c.5938C>T (p.His1980Tyr)
c.5833C>T (p.His1945Tyr)
 ClinVar dbSNP
Xg.154903966G>CCA414905825F8c.5938C>G (p.His1980Asp)
c.5833C>G (p.His1945Asp)
 dbSNP
Xg.154903966G=CA2466828154F8c.5938C= (p.His1980=)
c.5833C= (p.His1945=)
Xg.154903966G>TCA414905829F8c.5938C>A (p.His1980Asn)
c.5833C>A (p.His1945Asn)
Xg.154903967T>ACA519356196F8c.5937A>T (p.Gly1979=)
c.5832A>T (p.Gly1944=)
Xg.154903967T>CCA519356197F8c.5937A>G (p.Gly1979=)
c.5832A>G (p.Gly1944=)
Xg.154903967T>GCA519356199F8c.5937A>C (p.Gly1979=)
c.5832A>C (p.Gly1944=)
Xg.154903968C>ACA255189F8c.5936G>T (p.Gly1979Val)
c.5831G>T (p.Gly1944Val)
 ClinVar dbSNP
Xg.154903968C=CA2466828155F8c.5936G= (p.Gly1979=)
c.5831G= (p.Gly1944=)
Xg.154903968C>GCA414905838F8c.5936G>C (p.Gly1979Ala)
c.5831G>C (p.Gly1944Ala)
Xg.154903968C>TCA414905839F8c.5936G>A (p.Gly1979Glu)
c.5831G>A (p.Gly1944Glu)
Xg.154903969delCA2695237949F8c.5936del (p.Gly1979AspfsTer?)
c.5831del (p.Gly1944AspfsTer?)
Xg.154903969C>ACA414905855F8c.5935G>T (p.Gly1979Ter)
c.5830G>T (p.Gly1944Ter)
Xg.154903969C>GCA414905860F8c.5935G>C (p.Gly1979Arg)
c.5830G>C (p.Gly1944Arg)
Xg.154903969C>TCA414905863F8c.5935G>A (p.Gly1979Arg)
c.5830G>A (p.Gly1944Arg)
Xg.154903970A=CA2466828156F8c.5934T= (p.Ser1978=)
c.5829T= (p.Ser1943=)
Xg.154903970A>CCA414905865F8c.5934T>G (p.Ser1978Arg)
c.5829T>G (p.Ser1943Arg)
Xg.154903970A>GCA519356203F8c.5934T>C (p.Ser1978=)
c.5829T>C (p.Ser1943=)
 dbSNP gnomAD v3 gnomAD v4
Xg.154903970A>TCA414905867F8c.5934T>A (p.Ser1978Arg)
c.5829T>A (p.Ser1943Arg)
Xg.154903971C>ACA414905869F8c.5933G>T (p.Ser1978Ile)
c.5828G>T (p.Ser1943Ile)
Xg.154903971C=CA2466828157F8c.5933G= (p.Ser1978=)
c.5828G= (p.Ser1943=)
Xg.154903971C>GCA414905871F8c.5933G>C (p.Ser1978Thr)
c.5828G>C (p.Ser1943Thr)
 dbSNP gnomAD v4
Xg.154903971C>TCA414905875F8c.5933G>A (p.Ser1978Asn)
c.5828G>A (p.Ser1943Asn)
Xg.154903972T>ACA414905882F8c.5932A>T (p.Ser1978Cys)
c.5827A>T (p.Ser1943Cys)
Xg.154903972T>CCA414905880F8c.5932A>G (p.Ser1978Gly)
c.5827A>G (p.Ser1943Gly)
Xg.154903972T>GCA414905877F8c.5932A>C (p.Ser1978Arg)
c.5827A>C (p.Ser1943Arg)
Xg.154903973G>ACA519356205F8c.5931C>T (p.Phe1977=)
c.5826C>T (p.Phe1942=)
Xg.154903973G>CCA414905887F8c.5931C>G (p.Phe1977Leu)
c.5826C>G (p.Phe1942Leu)
Xg.154903973G>TCA414905891F8c.5931C>A (p.Phe1977Leu)
c.5826C>A (p.Phe1942Leu)
Xg.154903974A>CCA414905895F8c.5930T>G (p.Phe1977Cys)
c.5825T>G (p.Phe1942Cys)
Xg.154903974A>GCA414905900F8c.5930T>C (p.Phe1977Ser)
c.5825T>C (p.Phe1942Ser)
Xg.154903974A>TCA414905897F8c.5930T>A (p.Phe1977Tyr)
c.5825T>A (p.Phe1942Tyr)
Xg.154903976delCA2695237951F8c.5930del (p.Phe1977SerfsTer?)
c.5825del (p.Phe1942SerfsTer?)
Xg.154903975A>CCA414905903F8c.5929T>G (p.Phe1977Val)
c.5824T>G (p.Phe1942Val)
Xg.154903975A>GCA414905912F8c.5929T>C (p.Phe1977Leu)
c.5824T>C (p.Phe1942Leu)
Xg.154903975A>TCA414905916F8c.5929T>A (p.Phe1977Ile)
c.5824T>A (p.Phe1942Ile)
Xg.154903976A>CCA414905919F8c.5928T>G (p.His1976Gln)
c.5823T>G (p.His1941Gln)
Xg.154903976A>GCA519356209F8c.5928T>C (p.His1976=)
c.5823T>C (p.His1941=)
Xg.154903976A>TCA414905924F8c.5928T>A (p.His1976Gln)
c.5823T>A (p.His1941Gln)
Xg.154903977T>ACA414905927F8c.5927A>T (p.His1976Leu)
c.5822A>T (p.His1941Leu)
 gnomAD v4
Xg.154903977T>CCA414905930F8c.5927A>G (p.His1976Arg)
c.5822A>G (p.His1941Arg)
Xg.154903977T>GCA414905933F8c.5927A>C (p.His1976Pro)
c.5822A>C (p.His1941Pro)
Xg.154903978G>ACA414905938F8c.5926C>T (p.His1976Tyr)
c.5821C>T (p.His1941Tyr)
Xg.154903978G>CCA414905941F8c.5926C>G (p.His1976Asp)
c.5821C>G (p.His1941Asp)
Xg.154903978G>TCA414905947F8c.5926C>A (p.His1976Asn)
c.5821C>A (p.His1941Asn)
Xg.154903979A>CCA414905951F8c.5925T>G (p.Ile1975Met)
c.5820T>G (p.Ile1940Met)
Xg.154903979A>GCA519356213F8c.5925T>C (p.Ile1975=)
c.5820T>C (p.Ile1940=)
Xg.154903979A>TCA519356214F8c.5925T>A (p.Ile1975=)
c.5820T>A (p.Ile1940=)
Xg.154903980A=CA2466828158F8c.5924T= (p.Ile1975=)
c.5819T= (p.Ile1940=)
Xg.154903980A>CCA414905958F8c.5924T>G (p.Ile1975Ser)
c.5819T>G (p.Ile1940Ser)
Xg.154903980A>GCA414905953F8c.5924T>C (p.Ile1975Thr)
c.5819T>C (p.Ile1940Thr)
 dbSNP gnomAD v4
Xg.154903980A>TCA414905955F8c.5924T>A (p.Ile1975Asn)
c.5819T>A (p.Ile1940Asn)
Xg.154903981T>ACA414905961F8c.5923A>T (p.Ile1975Phe)
c.5818A>T (p.Ile1940Phe)
 dbSNP
Xg.154903981T>CCA414905962F8c.5923A>G (p.Ile1975Val)
c.5818A>G (p.Ile1940Val)
 dbSNP gnomAD v4
Xg.154903981T>GCA414905963F8c.5923A>C (p.Ile1975Leu)
c.5818A>C (p.Ile1940Leu)
Xg.154903981T=CA2466828159F8c.5923A= (p.Ile1975=)
c.5818A= (p.Ile1940=)
Xg.154903982A>CCA519356219F8c.5922T>G (p.Ser1974=)
c.5817T>G (p.Ser1939=)
Xg.154903982A>GCA519356224F8c.5922T>C (p.Ser1974=)
c.5817T>C (p.Ser1939=)
Xg.154903982A>TCA519356225F8c.5922T>A (p.Ser1974=)
c.5817T>A (p.Ser1939=)
Xg.154903983G>ACA414905964F8c.5921C>T (p.Ser1974Phe)
c.5816C>T (p.Ser1939Phe)
 COSMIC COSMIC
Xg.154903983G>CCA414905966F8c.5921C>G (p.Ser1974Cys)
c.5816C>G (p.Ser1939Cys)
Xg.154903983G>TCA414905968F8c.5921C>A (p.Ser1974Tyr)
c.5816C>A (p.Ser1939Tyr)
Xg.154903984A>CCA414905972F8c.5920T>G (p.Ser1974Ala)
c.5815T>G (p.Ser1939Ala)
Xg.154903984A>GCA414905974F8c.5920T>C (p.Ser1974Pro)
c.5815T>C (p.Ser1939Pro)
Xg.154903984A>TCA414905976F8c.5920T>A (p.Ser1974Thr)
c.5815T>A (p.Ser1939Thr)
Xg.154903985A>CCA414905979F8c.5919T>G (p.His1973Gln)
c.5814T>G (p.His1938Gln)
Xg.154903985A>GCA519356229F8c.5919T>C (p.His1973=)
c.5814T>C (p.His1938=)
Xg.154903985A>TCA414905981F8c.5919T>A (p.His1973Gln)
c.5814T>A (p.His1938Gln)
Xg.154903986T>ACA414905984F8c.5918A>T (p.His1973Leu)
c.5813A>T (p.His1938Leu)
 ClinVar dbSNP gnomAD v4
Xg.154903986T>CCA414905988F8c.5918A>G (p.His1973Arg)
c.5813A>G (p.His1938Arg)
 dbSNP
Xg.154903986T>GCA414905985F8c.5918A>C (p.His1973Pro)
c.5813A>C (p.His1938Pro)
Xg.154903986T=CA2466828160F8c.5918A= (p.His1973=)
c.5813A= (p.His1938=)
Xg.154903987G>ACA414905989F8c.5917C>T (p.His1973Tyr)
c.5812C>T (p.His1938Tyr)
Xg.154903987G>CCA414905990F8c.5917C>G (p.His1973Asp)
c.5812C>G (p.His1938Asp)
Xg.154903987G>TCA414905991F8c.5917C>A (p.His1973Asn)
c.5812C>A (p.His1938Asn)
Xg.154903988G>ACA519356233F8c.5916C>T (p.Ile1972=)
c.5811C>T (p.Ile1937=)
 COSMIC COSMIC
Xg.154903988G>CCA414905993F8c.5916C>G (p.Ile1972Met)
c.5811C>G (p.Ile1937Met)
 dbSNP
Xg.154903988G>TCA519356236F8c.5916C>A (p.Ile1972=)
c.5811C>A (p.Ile1937=)
Xg.154903988_154903990delinsGATCA2466828161F8c.5914_5916delinsATC (p.Ile1972=)
c.5809_5811delinsATC (p.Ile1937=)
Xg.154903989A=CA2466828162F8c.5915T= (p.Ile1972=)
c.5810T= (p.Ile1937=)
Xg.154903989A>CCA414905995F8c.5915T>G (p.Ile1972Ser)
c.5810T>G (p.Ile1937Ser)
Xg.154903989A>GCA414905996F8c.5915T>C (p.Ile1972Thr)
c.5810T>C (p.Ile1937Thr)
 dbSNP
Xg.154903989A>TCA414905998F8c.5915T>A (p.Ile1972Asn)
c.5810T>A (p.Ile1937Asn)
Xg.154903989_154903990delCA873340712F8c.5914_5915del (p.Ile1972ProfsTer19)
c.5809_5810del (p.Ile1937ProfsTer19)
 ClinVar dbSNP
Xg.154903990delCA2695237957F8c.5914del (p.Ile1972SerfsTer?)
c.5809del (p.Ile1937SerfsTer?)
Xg.154903990T>ACA414906012F8c.5914A>T (p.Ile1972Phe)
c.5809A>T (p.Ile1937Phe)
Xg.154903990T>CCA414906015F8c.5914A>G (p.Ile1972Val)
c.5809A>G (p.Ile1937Val)
Xg.154903990T>GCA414906017F8c.5914A>C (p.Ile1972Leu)
c.5809A>C (p.Ile1937Leu)
Xg.154903991G>ACA519356239F8c.5913C>T (p.Asn1971=)
c.5808C>T (p.Asn1936=)
Xg.154903991G>CCA414906027F8c.5913C>G (p.Asn1971Lys)
c.5808C>G (p.Asn1936Lys)
Xg.154903991G>TCA414906024F8c.5913C>A (p.Asn1971Lys)
c.5808C>A (p.Asn1936Lys)
Xg.154903992T>ACA414906029F8c.5912A>T (p.Asn1971Ile)
c.5807A>T (p.Asn1936Ile)
Xg.154903992T>CCA414906031F8c.5912A>G (p.Asn1971Ser)
c.5807A>G (p.Asn1936Ser)
Xg.154903992T>GCA414906034F8c.5912A>C (p.Asn1971Thr)
c.5807A>C (p.Asn1936Thr)

Number of alleles fetched