Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127426079C=CA1286883391PROCc.536-6C= (n.536-6C=)
c.121-2278C=
c.638-6C= (n.638-6C=)
c.479-6C= (n.479-6C=)
n.122-6C=
c.719-6C= (n.719-6C=)
c.701-6C= (n.701-6C=)
c.599-6C= (n.599-6C=)
c.779-6C= (n.779-6C=)
c.881-6C= (n.881-6C=)
c.821-6C= (n.821-6C=)
n.4506G=
c.704-6C= (n.704-6C=)
c.722-6C= (n.722-6C=)
c.512-6C= (n.512-6C=)
c.530-6C= (n.530-6C=)
2g.127426079C>TCA1859383PROCc.536-6C>T (n.536-6C>T)
c.121-2278C>T
c.638-6C>T (n.638-6C>T)
c.479-6C>T (n.479-6C>T)
n.122-6C>T
c.719-6C>T (n.719-6C>T)
c.701-6C>T (n.701-6C>T)
c.599-6C>T (n.599-6C>T)
c.779-6C>T (n.779-6C>T)
c.881-6C>T (n.881-6C>T)
c.821-6C>T (n.821-6C>T)
n.4506G>A
c.704-6C>T (n.704-6C>T)
c.722-6C>T (n.722-6C>T)
c.512-6C>T (n.512-6C>T)
c.530-6C>T (n.530-6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426080C>TCA2586969896PROCc.536-5C>T (n.536-5C>T)
c.121-2277C>T
c.638-5C>T (n.638-5C>T)
c.479-5C>T (n.479-5C>T)
n.122-5C>T
c.719-5C>T (n.719-5C>T)
c.701-5C>T (n.701-5C>T)
c.599-5C>T (n.599-5C>T)
c.779-5C>T (n.779-5C>T)
c.881-5C>T (n.881-5C>T)
c.821-5C>T (n.821-5C>T)
n.4505G>A
c.704-5C>T (n.704-5C>T)
c.722-5C>T (n.722-5C>T)
c.512-5C>T (n.512-5C>T)
c.530-5C>T (n.530-5C>T)
2g.127426081T>CCA1859384PROCc.536-4T>C (n.536-4T>C)
c.121-2276T>C
c.638-4T>C (n.638-4T>C)
c.479-4T>C (n.479-4T>C)
n.122-4T>C
c.719-4T>C (n.719-4T>C)
c.701-4T>C (n.701-4T>C)
c.599-4T>C (n.599-4T>C)
c.779-4T>C (n.779-4T>C)
c.881-4T>C (n.881-4T>C)
c.821-4T>C (n.821-4T>C)
n.4504A>G
c.704-4T>C (n.704-4T>C)
c.722-4T>C (n.722-4T>C)
c.512-4T>C (n.512-4T>C)
c.530-4T>C (n.530-4T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.127426081T=CA1286883392PROCc.536-4T= (n.536-4T=)
c.121-2276T=
c.638-4T= (n.638-4T=)
c.479-4T= (n.479-4T=)
n.122-4T=
c.719-4T= (n.719-4T=)
c.701-4T= (n.701-4T=)
c.599-4T= (n.599-4T=)
c.779-4T= (n.779-4T=)
c.881-4T= (n.881-4T=)
c.821-4T= (n.821-4T=)
n.4504A=
c.704-4T= (n.704-4T=)
c.722-4T= (n.722-4T=)
c.512-4T= (n.512-4T=)
c.530-4T= (n.530-4T=)
2g.127426082C>TCA2660996882PROCc.536-3C>T (n.536-3C>T)
c.121-2275C>T
c.638-3C>T (n.638-3C>T)
c.479-3C>T (n.479-3C>T)
n.122-3C>T
c.719-3C>T (n.719-3C>T)
c.701-3C>T (n.701-3C>T)
c.599-3C>T (n.599-3C>T)
c.779-3C>T (n.779-3C>T)
c.881-3C>T (n.881-3C>T)
c.821-3C>T (n.821-3C>T)
n.4503G>A
c.704-3C>T (n.704-3C>T)
c.722-3C>T (n.722-3C>T)
c.512-3C>T (n.512-3C>T)
c.530-3C>T (n.530-3C>T)
 gnomAD v4
2g.127426083A>CCA348400907PROCc.536-2A>C (n.536-2A>C)
c.121-2274A>C
c.638-2A>C (n.638-2A>C)
c.479-2A>C (n.479-2A>C)
n.122-2A>C
c.719-2A>C (n.719-2A>C)
c.701-2A>C (n.701-2A>C)
c.599-2A>C (n.599-2A>C)
c.779-2A>C (n.779-2A>C)
c.881-2A>C (n.881-2A>C)
c.821-2A>C (n.821-2A>C)
n.4502T>G
c.704-2A>C (n.704-2A>C)
c.722-2A>C (n.722-2A>C)
c.512-2A>C (n.512-2A>C)
c.530-2A>C (n.530-2A>C)
2g.127426083A>GCA348400910PROCc.536-2A>G (n.536-2A>G)
c.121-2274A>G
c.638-2A>G (n.638-2A>G)
c.479-2A>G (n.479-2A>G)
n.122-2A>G
c.719-2A>G (n.719-2A>G)
c.701-2A>G (n.701-2A>G)
c.599-2A>G (n.599-2A>G)
c.779-2A>G (n.779-2A>G)
c.881-2A>G (n.881-2A>G)
c.821-2A>G (n.821-2A>G)
n.4502T>C
c.704-2A>G (n.704-2A>G)
c.722-2A>G (n.722-2A>G)
c.512-2A>G (n.512-2A>G)
c.530-2A>G (n.530-2A>G)
2g.127426083A>TCA348400912PROCc.536-2A>T (n.536-2A>T)
c.121-2274A>T
c.638-2A>T (n.638-2A>T)
c.479-2A>T (n.479-2A>T)
n.122-2A>T
c.719-2A>T (n.719-2A>T)
c.701-2A>T (n.701-2A>T)
c.599-2A>T (n.599-2A>T)
c.779-2A>T (n.779-2A>T)
c.881-2A>T (n.881-2A>T)
c.821-2A>T (n.821-2A>T)
n.4502T>A
c.704-2A>T (n.704-2A>T)
c.722-2A>T (n.722-2A>T)
c.512-2A>T (n.512-2A>T)
c.530-2A>T (n.530-2A>T)
2g.127426084G>ACA348400914PROCc.536-1G>A (n.536-1G>A)
c.121-2273G>A
c.638-1G>A (n.638-1G>A)
c.479-1G>A (n.479-1G>A)
n.122-1G>A
c.719-1G>A (n.719-1G>A)
c.701-1G>A (n.701-1G>A)
c.599-1G>A (n.599-1G>A)
c.779-1G>A (n.779-1G>A)
c.881-1G>A (n.881-1G>A)
c.821-1G>A (n.821-1G>A)
n.4501C>T
c.704-1G>A (n.704-1G>A)
c.722-1G>A (n.722-1G>A)
c.512-1G>A (n.512-1G>A)
c.530-1G>A (n.530-1G>A)
2g.127426084G>CCA348400917PROCc.536-1G>C (n.536-1G>C)
c.121-2273G>C
c.638-1G>C (n.638-1G>C)
c.479-1G>C (n.479-1G>C)
n.122-1G>C
c.719-1G>C (n.719-1G>C)
c.701-1G>C (n.701-1G>C)
c.599-1G>C (n.599-1G>C)
c.779-1G>C (n.779-1G>C)
c.881-1G>C (n.881-1G>C)
c.821-1G>C (n.821-1G>C)
n.4501C>G
c.704-1G>C (n.704-1G>C)
c.722-1G>C (n.722-1G>C)
c.512-1G>C (n.512-1G>C)
c.530-1G>C (n.530-1G>C)
2g.127426084G>TCA348400919PROCc.536-1G>T (n.536-1G>T)
c.121-2273G>T
c.638-1G>T (n.638-1G>T)
c.479-1G>T (n.479-1G>T)
n.122-1G>T
c.719-1G>T (n.719-1G>T)
c.701-1G>T (n.701-1G>T)
c.599-1G>T (n.599-1G>T)
c.779-1G>T (n.779-1G>T)
c.881-1G>T (n.881-1G>T)
c.821-1G>T (n.821-1G>T)
n.4501C>A
c.704-1G>T (n.704-1G>T)
c.722-1G>T (n.722-1G>T)
c.512-1G>T (n.512-1G>T)
c.530-1G>T (n.530-1G>T)
2g.127426085T>ACA348400922PROCc.536T>A (p.Val179Glu)
c.121-2272T>A
c.638T>A (p.Val213Glu)
c.479T>A (p.Val160Glu)
n.122T>A
c.719T>A (p.Val240Glu)
c.701T>A (p.Val234Glu)
c.599T>A (p.Val200Glu)
c.779T>A (p.Val260Glu)
c.881T>A (p.Val294Glu)
c.821T>A (p.Val274Glu)
n.4500A>T
c.704T>A (p.Val235Glu)
c.722T>A (p.Val241Glu)
c.512T>A (p.Val171Glu)
c.530T>A (p.Val177Glu)
2g.127426085T>CCA348400925PROCc.536T>C (p.Val179Ala)
c.121-2272T>C
c.638T>C (p.Val213Ala)
c.479T>C (p.Val160Ala)
n.122T>C
c.719T>C (p.Val240Ala)
c.701T>C (p.Val234Ala)
c.599T>C (p.Val200Ala)
c.779T>C (p.Val260Ala)
c.881T>C (p.Val294Ala)
c.821T>C (p.Val274Ala)
n.4500A>G
c.704T>C (p.Val235Ala)
c.722T>C (p.Val241Ala)
c.512T>C (p.Val171Ala)
c.530T>C (p.Val177Ala)
2g.127426085T>GCA348400927PROCc.536T>G (p.Val179Gly)
c.121-2272T>G
c.638T>G (p.Val213Gly)
c.479T>G (p.Val160Gly)
n.122T>G
c.719T>G (p.Val240Gly)
c.701T>G (p.Val234Gly)
c.599T>G (p.Val200Gly)
c.779T>G (p.Val260Gly)
c.881T>G (p.Val294Gly)
c.821T>G (p.Val274Gly)
n.4500A>C
c.704T>G (p.Val235Gly)
c.722T>G (p.Val241Gly)
c.512T>G (p.Val171Gly)
c.530T>G (p.Val177Gly)
2g.127426086G>ACA428618167PROCc.537G>A (p.Val179=)
c.121-2271G>A
c.639G>A (p.Val213=)
c.480G>A (p.Val160=)
n.123G>A
c.720G>A (p.Val240=)
c.702G>A (p.Val234=)
c.600G>A (p.Val200=)
c.780G>A (p.Val260=)
c.882G>A (p.Val294=)
c.822G>A (p.Val274=)
n.4499C>T
c.705G>A (p.Val235=)
c.723G>A (p.Val241=)
c.513G>A (p.Val171=)
c.531G>A (p.Val177=)
2g.127426086G>CCA428618169PROCc.537G>C (p.Val179=)
c.121-2271G>C
c.639G>C (p.Val213=)
c.480G>C (p.Val160=)
n.123G>C
c.720G>C (p.Val240=)
c.702G>C (p.Val234=)
c.600G>C (p.Val200=)
c.780G>C (p.Val260=)
c.882G>C (p.Val294=)
c.822G>C (p.Val274=)
n.4499C>G
c.705G>C (p.Val235=)
c.723G>C (p.Val241=)
c.513G>C (p.Val171=)
c.531G>C (p.Val177=)
2g.127426086G>TCA428618171PROCc.537G>T (p.Val179=)
c.121-2271G>T
c.639G>T (p.Val213=)
c.480G>T (p.Val160=)
n.123G>T
c.720G>T (p.Val240=)
c.702G>T (p.Val234=)
c.600G>T (p.Val200=)
c.780G>T (p.Val260=)
c.882G>T (p.Val294=)
c.822G>T (p.Val274=)
n.4499C>A
c.705G>T (p.Val235=)
c.723G>T (p.Val241=)
c.513G>T (p.Val171=)
c.531G>T (p.Val177=)
 gnomAD v4
2g.127426087A=CA1286883393PROCc.538A= (p.Lys180=)
c.121-2270A=
c.640A= (p.Lys214=)
c.481A= (p.Lys161=)
n.124A=
c.721A= (p.Lys241=)
c.703A= (p.Lys235=)
c.601A= (p.Lys201=)
c.781A= (p.Lys261=)
c.883A= (p.Lys295=)
c.823A= (p.Lys275=)
n.4498T=
c.706A= (p.Lys236=)
c.724A= (p.Lys242=)
c.514A= (p.Lys172=)
c.532A= (p.Lys178=)
2g.127426087A>CCA55348198PROCc.538A>C (p.Lys180Gln)
c.121-2270A>C
c.640A>C (p.Lys214Gln)
c.481A>C (p.Lys161Gln)
n.124A>C
c.721A>C (p.Lys241Gln)
c.703A>C (p.Lys235Gln)
c.601A>C (p.Lys201Gln)
c.781A>C (p.Lys261Gln)
c.883A>C (p.Lys295Gln)
c.823A>C (p.Lys275Gln)
n.4498T>G
c.706A>C (p.Lys236Gln)
c.724A>C (p.Lys242Gln)
c.514A>C (p.Lys172Gln)
c.532A>C (p.Lys178Gln)
 dbSNP
2g.127426087A>GCA348400935PROCc.538A>G (p.Lys180Glu)
c.121-2270A>G
c.640A>G (p.Lys214Glu)
c.481A>G (p.Lys161Glu)
n.124A>G
c.721A>G (p.Lys241Glu)
c.703A>G (p.Lys235Glu)
c.601A>G (p.Lys201Glu)
c.781A>G (p.Lys261Glu)
c.883A>G (p.Lys295Glu)
c.823A>G (p.Lys275Glu)
n.4498T>C
c.706A>G (p.Lys236Glu)
c.724A>G (p.Lys242Glu)
c.514A>G (p.Lys172Glu)
c.532A>G (p.Lys178Glu)
2g.127426087A>TCA348400930PROCc.538A>T (p.Lys180Ter)
c.121-2270A>T
c.640A>T (p.Lys214Ter)
c.481A>T (p.Lys161Ter)
n.124A>T
c.721A>T (p.Lys241Ter)
c.703A>T (p.Lys235Ter)
c.601A>T (p.Lys201Ter)
c.781A>T (p.Lys261Ter)
c.883A>T (p.Lys295Ter)
c.823A>T (p.Lys275Ter)
n.4498T>A
c.706A>T (p.Lys236Ter)
c.724A>T (p.Lys242Ter)
c.514A>T (p.Lys172Ter)
c.532A>T (p.Lys178Ter)
2g.127426088A>CCA348400938PROCc.539A>C (p.Lys180Thr)
c.121-2269A>C
c.641A>C (p.Lys214Thr)
c.482A>C (p.Lys161Thr)
n.125A>C
c.722A>C (p.Lys241Thr)
c.704A>C (p.Lys235Thr)
c.602A>C (p.Lys201Thr)
c.782A>C (p.Lys261Thr)
c.884A>C (p.Lys295Thr)
c.824A>C (p.Lys275Thr)
n.4497T>G
c.707A>C (p.Lys236Thr)
c.725A>C (p.Lys242Thr)
c.515A>C (p.Lys172Thr)
c.533A>C (p.Lys178Thr)
2g.127426088A>GCA348400941PROCc.539A>G (p.Lys180Arg)
c.121-2269A>G
c.641A>G (p.Lys214Arg)
c.482A>G (p.Lys161Arg)
n.125A>G
c.722A>G (p.Lys241Arg)
c.704A>G (p.Lys235Arg)
c.602A>G (p.Lys201Arg)
c.782A>G (p.Lys261Arg)
c.884A>G (p.Lys295Arg)
c.824A>G (p.Lys275Arg)
n.4497T>C
c.707A>G (p.Lys236Arg)
c.725A>G (p.Lys242Arg)
c.515A>G (p.Lys172Arg)
c.533A>G (p.Lys178Arg)
2g.127426088A>TCA348400943PROCc.539A>T (p.Lys180Met)
c.121-2269A>T
c.641A>T (p.Lys214Met)
c.482A>T (p.Lys161Met)
n.125A>T
c.722A>T (p.Lys241Met)
c.704A>T (p.Lys235Met)
c.602A>T (p.Lys201Met)
c.782A>T (p.Lys261Met)
c.884A>T (p.Lys295Met)
c.824A>T (p.Lys275Met)
n.4497T>A
c.707A>T (p.Lys236Met)
c.725A>T (p.Lys242Met)
c.515A>T (p.Lys172Met)
c.533A>T (p.Lys178Met)
2g.127426089G>ACA428618175PROCc.540G>A (p.Lys180=)
c.121-2268G>A
c.642G>A (p.Lys214=)
c.483G>A (p.Lys161=)
n.126G>A
c.723G>A (p.Lys241=)
c.705G>A (p.Lys235=)
c.603G>A (p.Lys201=)
c.783G>A (p.Lys261=)
c.885G>A (p.Lys295=)
c.825G>A (p.Lys275=)
n.4496C>T
c.708G>A (p.Lys236=)
c.726G>A (p.Lys242=)
c.516G>A (p.Lys172=)
c.534G>A (p.Lys178=)
 dbSNP
2g.127426089G>CCA348400946PROCc.540G>C (p.Lys180Asn)
c.121-2268G>C
c.642G>C (p.Lys214Asn)
c.483G>C (p.Lys161Asn)
n.126G>C
c.723G>C (p.Lys241Asn)
c.705G>C (p.Lys235Asn)
c.603G>C (p.Lys201Asn)
c.783G>C (p.Lys261Asn)
c.885G>C (p.Lys295Asn)
c.825G>C (p.Lys275Asn)
n.4496C>G
c.708G>C (p.Lys236Asn)
c.726G>C (p.Lys242Asn)
c.516G>C (p.Lys172Asn)
c.534G>C (p.Lys178Asn)
2g.127426089G=CA1286883394PROCc.540G= (p.Lys180=)
c.121-2268G=
c.642G= (p.Lys214=)
c.483G= (p.Lys161=)
n.126G=
c.723G= (p.Lys241=)
c.705G= (p.Lys235=)
c.603G= (p.Lys201=)
c.783G= (p.Lys261=)
c.885G= (p.Lys295=)
c.825G= (p.Lys275=)
n.4496C=
c.708G= (p.Lys236=)
c.726G= (p.Lys242=)
c.516G= (p.Lys172=)
c.534G= (p.Lys178=)
2g.127426089G>TCA348400949PROCc.540G>T (p.Lys180Asn)
c.121-2268G>T
c.642G>T (p.Lys214Asn)
c.483G>T (p.Lys161Asn)
n.126G>T
c.723G>T (p.Lys241Asn)
c.705G>T (p.Lys235Asn)
c.603G>T (p.Lys201Asn)
c.783G>T (p.Lys261Asn)
c.885G>T (p.Lys295Asn)
c.825G>T (p.Lys275Asn)
n.4496C>A
c.708G>T (p.Lys236Asn)
c.726G>T (p.Lys242Asn)
c.516G>T (p.Lys172Asn)
c.534G>T (p.Lys178Asn)
2g.127426090T>ACA348400952PROCc.541T>A (p.Phe181Ile)
c.121-2267T>A
c.643T>A (p.Phe215Ile)
c.484T>A (p.Phe162Ile)
n.127T>A
c.724T>A (p.Phe242Ile)
c.706T>A (p.Phe236Ile)
c.604T>A (p.Phe202Ile)
c.784T>A (p.Phe262Ile)
c.886T>A (p.Phe296Ile)
c.826T>A (p.Phe276Ile)
n.4495A>T
c.709T>A (p.Phe237Ile)
c.727T>A (p.Phe243Ile)
c.517T>A (p.Phe173Ile)
c.535T>A (p.Phe179Ile)
2g.127426090T>CCA348400954PROCc.541T>C (p.Phe181Leu)
c.121-2267T>C
c.643T>C (p.Phe215Leu)
c.484T>C (p.Phe162Leu)
n.127T>C
c.724T>C (p.Phe242Leu)
c.706T>C (p.Phe236Leu)
c.604T>C (p.Phe202Leu)
c.784T>C (p.Phe262Leu)
c.886T>C (p.Phe296Leu)
c.826T>C (p.Phe276Leu)
n.4495A>G
c.709T>C (p.Phe237Leu)
c.727T>C (p.Phe243Leu)
c.517T>C (p.Phe173Leu)
c.535T>C (p.Phe179Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.127426090T>GCA1859385PROCc.541T>G (p.Phe181Val)
c.121-2267T>G
c.643T>G (p.Phe215Val)
c.484T>G (p.Phe162Val)
n.127T>G
c.724T>G (p.Phe242Val)
c.706T>G (p.Phe236Val)
c.604T>G (p.Phe202Val)
c.784T>G (p.Phe262Val)
c.886T>G (p.Phe296Val)
c.826T>G (p.Phe276Val)
n.4495A>C
c.709T>G (p.Phe237Val)
c.727T>G (p.Phe243Val)
c.517T>G (p.Phe173Val)
c.535T>G (p.Phe179Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.127426090T=CA1286883395PROCc.541T= (p.Phe181=)
c.121-2267T=
c.643T= (p.Phe215=)
c.484T= (p.Phe162=)
n.127T=
c.724T= (p.Phe242=)
c.706T= (p.Phe236=)
c.604T= (p.Phe202=)
c.784T= (p.Phe262=)
c.886T= (p.Phe296=)
c.826T= (p.Phe276=)
n.4495A=
c.709T= (p.Phe237=)
c.727T= (p.Phe243=)
c.517T= (p.Phe173=)
c.535T= (p.Phe179=)
2g.127426091T>ACA348400959PROCc.542T>A (p.Phe181Tyr)
c.121-2266T>A
c.644T>A (p.Phe215Tyr)
c.485T>A (p.Phe162Tyr)
n.128T>A
c.725T>A (p.Phe242Tyr)
c.707T>A (p.Phe236Tyr)
c.605T>A (p.Phe202Tyr)
c.785T>A (p.Phe262Tyr)
c.887T>A (p.Phe296Tyr)
c.827T>A (p.Phe276Tyr)
n.4494A>T
c.710T>A (p.Phe237Tyr)
c.728T>A (p.Phe243Tyr)
c.518T>A (p.Phe173Tyr)
c.536T>A (p.Phe179Tyr)
 dbSNP
2g.127426091T>CCA348400962PROCc.542T>C (p.Phe181Ser)
c.121-2266T>C
c.644T>C (p.Phe215Ser)
c.485T>C (p.Phe162Ser)
n.128T>C
c.725T>C (p.Phe242Ser)
c.707T>C (p.Phe236Ser)
c.605T>C (p.Phe202Ser)
c.785T>C (p.Phe262Ser)
c.887T>C (p.Phe296Ser)
c.827T>C (p.Phe276Ser)
n.4494A>G
c.710T>C (p.Phe237Ser)
c.728T>C (p.Phe243Ser)
c.518T>C (p.Phe173Ser)
c.536T>C (p.Phe179Ser)
2g.127426091T>GCA348400965PROCc.542T>G (p.Phe181Cys)
c.121-2266T>G
c.644T>G (p.Phe215Cys)
c.485T>G (p.Phe162Cys)
n.128T>G
c.725T>G (p.Phe242Cys)
c.707T>G (p.Phe236Cys)
c.605T>G (p.Phe202Cys)
c.785T>G (p.Phe262Cys)
c.887T>G (p.Phe296Cys)
c.827T>G (p.Phe276Cys)
n.4494A>C
c.710T>G (p.Phe237Cys)
c.728T>G (p.Phe243Cys)
c.518T>G (p.Phe173Cys)
c.536T>G (p.Phe179Cys)
2g.127426091T=CA1286883396PROCc.542T= (p.Phe181=)
c.121-2266T=
c.644T= (p.Phe215=)
c.485T= (p.Phe162=)
n.128T=
c.725T= (p.Phe242=)
c.707T= (p.Phe236=)
c.605T= (p.Phe202=)
c.785T= (p.Phe262=)
c.887T= (p.Phe296=)
c.827T= (p.Phe276=)
n.4494A=
c.710T= (p.Phe237=)
c.728T= (p.Phe243=)
c.518T= (p.Phe173=)
c.536T= (p.Phe179=)
2g.127426092C>ACA348400967PROCc.543C>A (p.Phe181Leu)
c.121-2265C>A
c.645C>A (p.Phe215Leu)
c.486C>A (p.Phe162Leu)
n.129C>A
c.726C>A (p.Phe242Leu)
c.708C>A (p.Phe236Leu)
c.606C>A (p.Phe202Leu)
c.786C>A (p.Phe262Leu)
c.888C>A (p.Phe296Leu)
c.828C>A (p.Phe276Leu)
n.4493G>T
c.711C>A (p.Phe237Leu)
c.729C>A (p.Phe243Leu)
c.519C>A (p.Phe173Leu)
c.537C>A (p.Phe179Leu)
2g.127426092C>GCA348400969PROCc.543C>G (p.Phe181Leu)
c.121-2265C>G
c.645C>G (p.Phe215Leu)
c.486C>G (p.Phe162Leu)
n.129C>G
c.726C>G (p.Phe242Leu)
c.708C>G (p.Phe236Leu)
c.606C>G (p.Phe202Leu)
c.786C>G (p.Phe262Leu)
c.888C>G (p.Phe296Leu)
c.828C>G (p.Phe276Leu)
n.4493G>C
c.711C>G (p.Phe237Leu)
c.729C>G (p.Phe243Leu)
c.519C>G (p.Phe173Leu)
c.537C>G (p.Phe179Leu)
2g.127426092C>TCA428618177PROCc.543C>T (p.Phe181=)
c.121-2265C>T
c.645C>T (p.Phe215=)
c.486C>T (p.Phe162=)
n.129C>T
c.726C>T (p.Phe242=)
c.708C>T (p.Phe236=)
c.606C>T (p.Phe202=)
c.786C>T (p.Phe262=)
c.888C>T (p.Phe296=)
c.828C>T (p.Phe276=)
n.4493G>A
c.711C>T (p.Phe237=)
c.729C>T (p.Phe243=)
c.519C>T (p.Phe173=)
c.537C>T (p.Phe179=)
 COSMIC COSMIC
2g.127426093C>ACA348400978PROCc.544C>A (p.Pro182Thr)
c.121-2264C>A
c.646C>A (p.Pro216Thr)
c.487C>A (p.Pro163Thr)
n.130C>A
c.727C>A (p.Pro243Thr)
c.709C>A (p.Pro237Thr)
c.607C>A (p.Pro203Thr)
c.787C>A (p.Pro263Thr)
c.889C>A (p.Pro297Thr)
c.829C>A (p.Pro277Thr)
n.4492G>T
c.712C>A (p.Pro238Thr)
c.730C>A (p.Pro244Thr)
c.520C>A (p.Pro174Thr)
c.538C>A (p.Pro180Thr)
2g.127426093C=CA1286883397PROCc.544C= (p.Pro182=)
c.121-2264C=
c.646C= (p.Pro216=)
c.487C= (p.Pro163=)
n.130C=
c.727C= (p.Pro243=)
c.709C= (p.Pro237=)
c.607C= (p.Pro203=)
c.787C= (p.Pro263=)
c.889C= (p.Pro297=)
c.829C= (p.Pro277=)
n.4492G=
c.712C= (p.Pro238=)
c.730C= (p.Pro244=)
c.520C= (p.Pro174=)
c.538C= (p.Pro180=)
2g.127426093C>GCA348400974PROCc.544C>G (p.Pro182Ala)
c.121-2264C>G
c.646C>G (p.Pro216Ala)
c.487C>G (p.Pro163Ala)
n.130C>G
c.727C>G (p.Pro243Ala)
c.709C>G (p.Pro237Ala)
c.607C>G (p.Pro203Ala)
c.787C>G (p.Pro263Ala)
c.889C>G (p.Pro297Ala)
c.829C>G (p.Pro277Ala)
n.4492G>C
c.712C>G (p.Pro238Ala)
c.730C>G (p.Pro244Ala)
c.520C>G (p.Pro174Ala)
c.538C>G (p.Pro180Ala)
2g.127426093C>TCA348400972PROCc.544C>T (p.Pro182Ser)
c.121-2264C>T
c.646C>T (p.Pro216Ser)
c.487C>T (p.Pro163Ser)
n.130C>T
c.727C>T (p.Pro243Ser)
c.709C>T (p.Pro237Ser)
c.607C>T (p.Pro203Ser)
c.787C>T (p.Pro263Ser)
c.889C>T (p.Pro297Ser)
c.829C>T (p.Pro277Ser)
n.4492G>A
c.712C>T (p.Pro238Ser)
c.730C>T (p.Pro244Ser)
c.520C>T (p.Pro174Ser)
c.538C>T (p.Pro180Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.127426094C>ACA348400982PROCc.545C>A (p.Pro182His)
c.121-2263C>A
c.647C>A (p.Pro216His)
c.488C>A (p.Pro163His)
n.131C>A
c.728C>A (p.Pro243His)
c.710C>A (p.Pro237His)
c.608C>A (p.Pro203His)
c.788C>A (p.Pro263His)
c.890C>A (p.Pro297His)
c.830C>A (p.Pro277His)
n.4491G>T
c.713C>A (p.Pro238His)
c.731C>A (p.Pro244His)
c.521C>A (p.Pro174His)
c.539C>A (p.Pro180His)
2g.127426094C>GCA348400984PROCc.545C>G (p.Pro182Arg)
c.121-2263C>G
c.647C>G (p.Pro216Arg)
c.488C>G (p.Pro163Arg)
n.131C>G
c.728C>G (p.Pro243Arg)
c.710C>G (p.Pro237Arg)
c.608C>G (p.Pro203Arg)
c.788C>G (p.Pro263Arg)
c.890C>G (p.Pro297Arg)
c.830C>G (p.Pro277Arg)
n.4491G>C
c.713C>G (p.Pro238Arg)
c.731C>G (p.Pro244Arg)
c.521C>G (p.Pro174Arg)
c.539C>G (p.Pro180Arg)
2g.127426094C>TCA348400986PROCc.545C>T (p.Pro182Leu)
c.121-2263C>T
c.647C>T (p.Pro216Leu)
c.488C>T (p.Pro163Leu)
n.131C>T
c.728C>T (p.Pro243Leu)
c.710C>T (p.Pro237Leu)
c.608C>T (p.Pro203Leu)
c.788C>T (p.Pro263Leu)
c.890C>T (p.Pro297Leu)
c.830C>T (p.Pro277Leu)
n.4491G>A
c.713C>T (p.Pro238Leu)
c.731C>T (p.Pro244Leu)
c.521C>T (p.Pro174Leu)
c.539C>T (p.Pro180Leu)
2g.127426095T>ACA428618179PROCc.546T>A (p.Pro182=)
c.121-2262T>A
c.648T>A (p.Pro216=)
c.489T>A (p.Pro163=)
n.132T>A
c.729T>A (p.Pro243=)
c.711T>A (p.Pro237=)
c.609T>A (p.Pro203=)
c.789T>A (p.Pro263=)
c.891T>A (p.Pro297=)
c.831T>A (p.Pro277=)
n.4490A>T
c.714T>A (p.Pro238=)
c.732T>A (p.Pro244=)
c.522T>A (p.Pro174=)
c.540T>A (p.Pro180=)
2g.127426095T>CCA428618181PROCc.546T>C (p.Pro182=)
c.121-2262T>C
c.648T>C (p.Pro216=)
c.489T>C (p.Pro163=)
n.132T>C
c.729T>C (p.Pro243=)
c.711T>C (p.Pro237=)
c.609T>C (p.Pro203=)
c.789T>C (p.Pro263=)
c.891T>C (p.Pro297=)
c.831T>C (p.Pro277=)
n.4490A>G
c.714T>C (p.Pro238=)
c.732T>C (p.Pro244=)
c.522T>C (p.Pro174=)
c.540T>C (p.Pro180=)
 dbSNP gnomAD v4
2g.127426095T>GCA428618180PROCc.546T>G (p.Pro182=)
c.121-2262T>G
c.648T>G (p.Pro216=)
c.489T>G (p.Pro163=)
n.132T>G
c.729T>G (p.Pro243=)
c.711T>G (p.Pro237=)
c.609T>G (p.Pro203=)
c.789T>G (p.Pro263=)
c.891T>G (p.Pro297=)
c.831T>G (p.Pro277=)
n.4490A>C
c.714T>G (p.Pro238=)
c.732T>G (p.Pro244=)
c.522T>G (p.Pro174=)
c.540T>G (p.Pro180=)

Number of alleles fetched