| 4 | g.87612359G>A | CA357602977 | DSPP | c.173G>A (p.Gly58Asp)
| |
| 4 | g.87612359G>C | CA357602978 | DSPP | c.173G>C (p.Gly58Ala)
| |
| 4 | g.87612359G>T | CA357602979 | DSPP | c.173G>T (p.Gly58Val)
| gnomAD v4 |
| 4 | g.87612360T>A | CA440294062 | DSPP | c.174T>A (p.Gly58=)
| |
| 4 | g.87612360T>C | CA440294061 | DSPP | c.174T>C (p.Gly58=)
| gnomAD v4 |
| 4 | g.87612360T>G | CA440294060 | DSPP | c.174T>G (p.Gly58=)
| |
| 4 | g.87612361G>A | CA357602980 | DSPP | c.175G>A (p.Val59Ile)
| |
| 4 | g.87612361G>C | CA357602981 | DSPP | c.175G>C (p.Val59Leu)
| |
| 4 | g.87612361G>T | CA357602982 | DSPP | c.175G>T (p.Val59Phe)
| |
| 4 | g.87612362T>A | CA357602983 | DSPP | c.176T>A (p.Val59Asp)
| |
| 4 | g.87612362T>C | CA357602984 | DSPP | c.176T>C (p.Val59Ala)
| gnomAD v4 |
| 4 | g.87612362T>G | CA357602985 | DSPP | c.176T>G (p.Val59Gly)
| |
| 4 | g.87612363C>A | CA440294065 | DSPP | c.177C>A (p.Val59=)
| |
| 4 | g.87612363C>G | CA440294066 | DSPP | c.177C>G (p.Val59=)
| |
| 4 | g.87612363C>T | CA440294067 | DSPP | c.177C>T (p.Val59=)
| |
| 4 | g.87612364C>A | CA3000846 | DSPP | c.178C>A (p.Leu60Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612364C= | CA1474384414 | DSPP | c.178C= (p.Leu60=)
| |
| 4 | g.87612364C>G | CA357602986 | DSPP | c.178C>G (p.Leu60Val)
| |
| 4 | g.87612364C>T | CA440294068 | DSPP | c.178C>T (p.Leu60=)
| |
| 4 | g.87612365T>A | CA357602988 | DSPP | c.179T>A (p.Leu60Gln)
| |
| 4 | g.87612365T>C | CA357602989 | DSPP | c.179T>C (p.Leu60Pro)
| gnomAD v4 |
| 4 | g.87612365T>G | CA357602987 | DSPP | c.179T>G (p.Leu60Arg)
| |
| 4 | g.87612366G>A | CA440294070 | DSPP | c.180G>A (p.Leu60=)
| |
| 4 | g.87612366G>C | CA440294073 | DSPP | c.180G>C (p.Leu60=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612366G= | CA1474384415 | DSPP | c.180G= (p.Leu60=)
| |
| 4 | g.87612366G>T | CA3000847 | DSPP | c.180G>T (p.Leu60=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612367G>A | CA357602990 | DSPP | c.181G>A (p.Val61Met)
| |
| 4 | g.87612367G>C | CA357602991 | DSPP | c.181G>C (p.Val61Leu)
| |
| 4 | g.87612367G>T | CA357602992 | DSPP | c.181G>T (p.Val61Leu)
| gnomAD v4 |
| 4 | g.87612368T>A | CA357602993 | DSPP | c.182T>A (p.Val61Glu)
| |
| 4 | g.87612368T>C | CA357602994 | DSPP | c.182T>C (p.Val61Ala)
| |
| 4 | g.87612368T>G | CA3000848 | DSPP | c.182T>G (p.Val61Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612368T= | CA1474384416 | DSPP | c.182T= (p.Val61=)
| |
| 4 | g.87612369G>A | CA440294079 | DSPP | c.183G>A (p.Val61=)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612369G>C | CA440294080 | DSPP | c.183G>C (p.Val61=)
| |
| 4 | g.87612369G= | CA1474384417 | DSPP | c.183G= (p.Val61=)
| |
| 4 | g.87612369G>T | CA440294081 | DSPP | c.183G>T (p.Val61=)
| |
| 4 | g.87612370C>A | CA357602995 | DSPP | c.184C>A (p.His62Asn)
| |
| 4 | g.87612370C>G | CA357602996 | DSPP | c.184C>G (p.His62Asp)
| |
| 4 | g.87612370C>T | CA357602997 | DSPP | c.184C>T (p.His62Tyr)
| gnomAD v4 |
| 4 | g.87612371A= | CA1474384418 | DSPP | c.185A= (p.His62=)
| |
| 4 | g.87612371A>C | CA357602998 | DSPP | c.185A>C (p.His62Pro)
| |
| 4 | g.87612371A>G | CA357602999 | DSPP | c.185A>G (p.His62Arg)
| dbSNP |
| 4 | g.87612371A>T | CA357603000 | DSPP | c.185A>T (p.His62Leu)
| dbSNP |
| 4 | g.87612372T>A | CA357603002 | DSPP | c.186T>A (p.His62Gln)
| dbSNP |
| 4 | g.87612372T>C | CA3000849 | DSPP | c.186T>C (p.His62=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612372T>G | CA357603001 | DSPP | c.186T>G (p.His62Gln)
| |
| 4 | g.87612372T= | CA1474384419 | DSPP | c.186T= (p.His62=)
| |
| 4 | g.87612375_87612380del | CA440294086 | DSPP | c.189_194del (p.Glu63_Gly64del)
| gnomAD v4 |
| 4 | g.87612373G>A | CA357603003 | DSPP | c.187G>A (p.Glu63Lys)
| gnomAD v4 |
| 4 | g.87612373G>C | CA357603004 | DSPP | c.187G>C (p.Glu63Gln)
| gnomAD v4 |
| 4 | g.87612373G>T | CA357603005 | DSPP | c.187G>T (p.Glu63Ter)
| |
| 4 | g.87612374A>C | CA357603006 | DSPP | c.188A>C (p.Glu63Ala)
| |
| 4 | g.87612374A>G | CA357603007 | DSPP | c.188A>G (p.Glu63Gly)
| gnomAD v4 |
| 4 | g.87612374A>T | CA357603008 | DSPP | c.188A>T (p.Glu63Val)
| |
| 4 | g.87612375A>C | CA357603009 | DSPP | c.189A>C (p.Glu63Asp)
| |
| 4 | g.87612375A>G | CA440294089 | DSPP | c.189A>G (p.Glu63=)
| |
| 4 | g.87612375A>T | CA357603010 | DSPP | c.189A>T (p.Glu63Asp)
| |
| 4 | g.87612376G>A | CA357603011 | DSPP | c.190G>A (p.Gly64Ser)
| |
| 4 | g.87612376G>C | CA357603012 | DSPP | c.190G>C (p.Gly64Arg)
| |
| 4 | g.87612376G>T | CA357603013 | DSPP | c.190G>T (p.Gly64Cys)
| |
| 4 | g.87612377G>A | CA3000850 | DSPP | c.191G>A (p.Gly64Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612377G>C | CA357603014 | DSPP | c.191G>C (p.Gly64Ala)
| |
| 4 | g.87612377G= | CA1474384420 | DSPP | c.191G= (p.Gly64=)
| |
| 4 | g.87612377G>T | CA357603015 | DSPP | c.191G>T (p.Gly64Val)
| |
| 4 | g.87612378T>A | CA440294093 | DSPP | c.192T>A (p.Gly64=)
| |
| 4 | g.87612378T>C | CA440294094 | DSPP | c.192T>C (p.Gly64=)
| gnomAD v4 |
| 4 | g.87612378T>G | CA440294095 | DSPP | c.192T>G (p.Gly64=)
| |
| 4 | g.87612379G>A | CA357603016 | DSPP | c.193G>A (p.Asp65Asn)
| |
| 4 | g.87612379G>C | CA357603018 | DSPP | c.193G>C (p.Asp65His)
| |
| 4 | g.87612379G>T | CA357603017 | DSPP | c.193G>T (p.Asp65Tyr)
| |
| 4 | g.87612380A>C | CA357603019 | DSPP | c.194A>C (p.Asp65Ala)
| |
| 4 | g.87612380A>G | CA357603021 | DSPP | c.194A>G (p.Asp65Gly)
| |
| 4 | g.87612380A>T | CA357603020 | DSPP | c.194A>T (p.Asp65Val)
| |
| 4 | g.87612381T>A | CA357603022 | DSPP | c.195T>A (p.Asp65Glu)
| |
| 4 | g.87612381T>C | CA440294099 | DSPP | c.195T>C (p.Asp65=)
| gnomAD v4 |
| 4 | g.87612381T>G | CA357603023 | DSPP | c.195T>G (p.Asp65Glu)
| |
| 4 | g.87612382A>C | CA440294101 | DSPP | c.196A>C (p.Arg66=)
| |
| 4 | g.87612382A>G | CA357603024 | DSPP | c.196A>G (p.Arg66Gly)
| |
| 4 | g.87612382A>T | CA357603025 | DSPP | c.196A>T (p.Arg66Ter)
| |
| 4 | g.87612383G>A | CA3000851 | DSPP | c.197G>A (p.Arg66Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612383G>C | CA357603026 | DSPP | c.197G>C (p.Arg66Thr)
| |
| 4 | g.87612383G= | CA1474384421 | DSPP | c.197G= (p.Arg66=)
| |
| 4 | g.87612383G>T | CA357603027 | DSPP | c.197G>T (p.Arg66Ile)
| |
| 4 | g.87612384A>C | CA357603028 | DSPP | c.198A>C (p.Arg66Ser)
| |
| 4 | g.87612384A>G | CA440294106 | DSPP | c.198A>G (p.Arg66=)
| |
| 4 | g.87612384A>T | CA357603029 | DSPP | c.198A>T (p.Arg66Ser)
| |
| 4 | g.87612385G>A | CA357603030 | DSPP | c.199G>A (p.Gly67Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612385G>C | CA357603031 | DSPP | c.199G>C (p.Gly67Arg)
| gnomAD v4 |
| 4 | g.87612385G= | CA1474384422 | DSPP | c.199G= (p.Gly67=)
| |
| 4 | g.87612385G>T | CA357603032 | DSPP | c.199G>T (p.Gly67Ter)
| |
| 4 | g.87612386del | CA2578139798 | DSPP | c.200del (p.Gly67GlufsTer22)
| |
| 4 | g.87612386G>A | CA357603035 | DSPP | c.200G>A (p.Gly67Glu)
| |
| 4 | g.87612386G>C | CA357603033 | DSPP | c.200G>C (p.Gly67Ala)
| |
| 4 | g.87612386G>T | CA357603034 | DSPP | c.200G>T (p.Gly67Val)
| |
| 4 | g.87612387A>C | CA440294112 | DSPP | c.201A>C (p.Gly67=)
| |
| 4 | g.87612387A>G | CA440294113 | DSPP | c.201A>G (p.Gly67=)
| |
| 4 | g.87612387A>T | CA440294114 | DSPP | c.201A>T (p.Gly67=)
| |
| 4 | g.87612388A= | CA1474384423 | DSPP | c.202A= (p.Arg68=)
| |
| 4 | g.87612388A>C | CA440294115 | DSPP | c.202A>C (p.Arg68=)
| |
| 4 | g.87612388A>G | CA357603036 | DSPP | c.202A>G (p.Arg68Gly)
| |
| 4 | g.87612388A>T | CA126929 | DSPP | c.202A>T (p.Arg68Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612389G>A | CA357603037 | DSPP | c.203G>A (p.Arg68Lys)
| dbSNP |
| 4 | g.87612389G>C | CA357603038 | DSPP | c.203G>C (p.Arg68Thr)
| |
| 4 | g.87612389G= | CA1474384424 | DSPP | c.203G= (p.Arg68=)
| |
| 4 | g.87612389G>T | CA357603039 | DSPP | c.203G>T (p.Arg68Met)
| |
| 4 | g.87612390G>A | CA440294119 | DSPP | c.204G>A (p.Arg68=)
| |
| 4 | g.87612390G>C | CA357603040 | DSPP | c.204G>C (p.Arg68Ser)
| |
| 4 | g.87612390G>T | CA357603041 | DSPP | c.204G>T (p.Arg68Ser)
| |
| 4 | g.87612390_87612391delinsGC | CA1474384425 | DSPP | c.204_205delinsGC (p.Arg68=)
| |
| 4 | g.87612391del | CA553085325 | DSPP | c.205del (p.Gln69LysfsTer20)
| dbSNP gnomAD v2 |
| 4 | g.87612391C>A | CA357603042 | DSPP | c.205C>A (p.Gln69Lys)
| |
| 4 | g.87612391C>G | CA357603043 | DSPP | c.205C>G (p.Gln69Glu)
| |
| 4 | g.87612391C>T | CA357603044 | DSPP | c.205C>T (p.Gln69Ter)
| gnomAD v4 |
| 4 | g.87612392A>C | CA357603047 | DSPP | c.206A>C (p.Gln69Pro)
| |
| 4 | g.87612392A>G | CA357603046 | DSPP | c.206A>G (p.Gln69Arg)
| gnomAD v4 |
| 4 | g.87612392A>T | CA357603045 | DSPP | c.206A>T (p.Gln69Leu)
| |
| 4 | g.87612393A= | CA1474384426 | DSPP | c.207A= (p.Gln69=)
| |
| 4 | g.87612393A>C | CA357603048 | DSPP | c.207A>C (p.Gln69His)
| |
| 4 | g.87612393A>G | CA440294123 | DSPP | c.207A>G (p.Gln69=)
| |
| 4 | g.87612393A>T | CA357603049 | DSPP | c.207A>T (p.Gln69His)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612394G>A | CA357603050 | DSPP | c.208G>A (p.Glu70Lys)
| |
| 4 | g.87612394G>C | CA357603051 | DSPP | c.208G>C (p.Glu70Gln)
| |
| 4 | g.87612394G>T | CA357603052 | DSPP | c.208G>T (p.Glu70Ter)
| |
| 4 | g.87612395A>C | CA357603053 | DSPP | c.209A>C (p.Glu70Ala)
| |
| 4 | g.87612395A>G | CA357603054 | DSPP | c.209A>G (p.Glu70Gly)
| |
| 4 | g.87612395A>T | CA357603055 | DSPP | c.209A>T (p.Glu70Val)
| |
| 4 | g.87612396G>A | CA440294125 | DSPP | c.210G>A (p.Glu70=)
| |
| 4 | g.87612396G>C | CA357603056 | DSPP | c.210G>C (p.Glu70Asp)
| |
| 4 | g.87612396G>T | CA357603057 | DSPP | c.210G>T (p.Glu70Asp)
| |
| 4 | g.87612397A= | CA1474384427 | DSPP | c.211A= (p.Asn71=)
| |
| 4 | g.87612397A>C | CA357603058 | DSPP | c.211A>C (p.Asn71His)
| |
| 4 | g.87612397A>G | CA357603059 | DSPP | c.211A>G (p.Asn71Asp)
| gnomAD v4 |
| 4 | g.87612397A>T | CA3000852 | DSPP | c.211A>T (p.Asn71Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.87612398A>C | CA357603060 | DSPP | c.212A>C (p.Asn71Thr)
| |
| 4 | g.87612398A>G | CA357603062 | DSPP | c.212A>G (p.Asn71Ser)
| |
| 4 | g.87612398A>T | CA357603061 | DSPP | c.212A>T (p.Asn71Ile)
| |
| 4 | g.87612399T>A | CA357603063 | DSPP | c.213T>A (p.Asn71Lys)
| |
| 4 | g.87612399T>C | CA440294128 | DSPP | c.213T>C (p.Asn71=)
| gnomAD v4 |
| 4 | g.87612399T>G | CA357603064 | DSPP | c.213T>G (p.Asn71Lys)
| |
| 4 | g.87612400A= | CA1474384428 | DSPP | c.214A= (p.Thr72=)
| |
| 4 | g.87612400A>C | CA357603065 | DSPP | c.214A>C (p.Thr72Pro)
| |
| 4 | g.87612400A>G | CA3000853 | DSPP | c.214A>G (p.Thr72Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612400A>T | CA357603066 | DSPP | c.214A>T (p.Thr72Ser)
| |
| 4 | g.87612401C>A | CA357603067 | DSPP | c.215C>A (p.Thr72Asn)
| |
| 4 | g.87612401C= | CA1474384429 | DSPP | c.215C= (p.Thr72=)
| |
| 4 | g.87612401C>G | CA357603068 | DSPP | c.215C>G (p.Thr72Ser)
| |
| 4 | g.87612401C>T | CA3000854 | DSPP | c.215C>T (p.Thr72Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612402C>A | CA440294131 | DSPP | c.216C>A (p.Thr72=)
| |
| 4 | g.87612402C>G | CA440294132 | DSPP | c.216C>G (p.Thr72=)
| gnomAD v4 |
| 4 | g.87612402C>T | CA440294133 | DSPP | c.216C>T (p.Thr72=)
| |
| 4 | g.87612403C>A | CA357603069 | DSPP | c.217C>A (p.Gln73Lys)
| |
| 4 | g.87612403C>G | CA357603070 | DSPP | c.217C>G (p.Gln73Glu)
| |
| 4 | g.87612403C>T | CA357603071 | DSPP | c.217C>T (p.Gln73Ter)
| gnomAD v4 |
| 4 | g.87612404A>C | CA357603074 | DSPP | c.218A>C (p.Gln73Pro)
| |
| 4 | g.87612404A>G | CA357603073 | DSPP | c.218A>G (p.Gln73Arg)
| |
| 4 | g.87612404A>T | CA357603072 | DSPP | c.218A>T (p.Gln73Leu)
| |
| 4 | g.87612405A= | CA1474384430 | DSPP | c.219A= (p.Gln73=)
| |
| 4 | g.87612405A>C | CA357603076 | DSPP | c.219A>C (p.Gln73His)
| dbSNP |
| 4 | g.87612405A>G | CA440294136 | DSPP | c.219A>G (p.Gln73=)
| |
| 4 | g.87612405A>T | CA357603075 | DSPP | c.219A>T (p.Gln73His)
| |
| 4 | g.87612406G>A | CA357603079 | DSPP | c.220G>A (p.Asp74Asn)
| gnomAD v4 |
| 4 | g.87612406G>C | CA357603077 | DSPP | c.220G>C (p.Asp74His)
| |
| 4 | g.87612406G>T | CA357603078 | DSPP | c.220G>T (p.Asp74Tyr)
| |
| 4 | g.87612407A>C | CA357603080 | DSPP | c.221A>C (p.Asp74Ala)
| |
| 4 | g.87612407A>G | CA357603081 | DSPP | c.221A>G (p.Asp74Gly)
| |
| 4 | g.87612407A>T | CA357603082 | DSPP | c.221A>T (p.Asp74Val)
| |
| 4 | g.87612408T>A | CA357603083 | DSPP | c.222T>A (p.Asp74Glu)
| |
| 4 | g.87612408T>C | CA440294142 | DSPP | c.222T>C (p.Asp74=)
| |
| 4 | g.87612408T>G | CA357603084 | DSPP | c.222T>G (p.Asp74Glu)
| |
| 4 | g.87612409G>A | CA357603085 | DSPP | c.223G>A (p.Gly75Ser)
| dbSNP gnomAD v4 |
| 4 | g.87612409G>C | CA357603086 | DSPP | c.223G>C (p.Gly75Arg)
| |
| 4 | g.87612409G= | CA1474384431 | DSPP | c.223G= (p.Gly75=)
| |
| 4 | g.87612409G>T | CA357603087 | DSPP | c.223G>T (p.Gly75Cys)
| |
| 4 | g.87612410G>A | CA357603088 | DSPP | c.224G>A (p.Gly75Asp)
| |
| 4 | g.87612410G>C | CA357603089 | DSPP | c.224G>C (p.Gly75Ala)
| |
| 4 | g.87612410G>T | CA357603090 | DSPP | c.224G>T (p.Gly75Val)
| |
| 4 | g.87612411T>A | CA440294148 | DSPP | c.225T>A (p.Gly75=)
| |
| 4 | g.87612411T>C | CA440294152 | DSPP | c.225T>C (p.Gly75=)
| gnomAD v4 |
| 4 | g.87612411T>G | CA440294153 | DSPP | c.225T>G (p.Gly75=)
| |
| 4 | g.87612412C>A | CA357603091 | DSPP | c.226C>A (p.His76Asn)
| |
| 4 | g.87612412C>G | CA357603093 | DSPP | c.226C>G (p.His76Asp)
| |
| 4 | g.87612412C>T | CA357603092 | DSPP | c.226C>T (p.His76Tyr)
| |
| 4 | g.87612413A>C | CA357603094 | DSPP | c.227A>C (p.His76Pro)
| |
| 4 | g.87612413A>G | CA357603095 | DSPP | c.227A>G (p.His76Arg)
| |
| 4 | g.87612413A>T | CA357603096 | DSPP | c.227A>T (p.His76Leu)
| |
| 4 | g.87612414C>A | CA357603097 | DSPP | c.228C>A (p.His76Gln)
| |
| 4 | g.87612414C>G | CA357603098 | DSPP | c.228C>G (p.His76Gln)
| |
| 4 | g.87612414C>T | CA440294159 | DSPP | c.228C>T (p.His76=)
| |
| 4 | g.87612415A>C | CA357603099 | DSPP | c.229A>C (p.Lys77Gln)
| |
| 4 | g.87612415A>G | CA357603100 | DSPP | c.229A>G (p.Lys77Glu)
| gnomAD v4 |
| 4 | g.87612415A>T | CA357603101 | DSPP | c.229A>T (p.Lys77Ter)
| |
| 4 | g.87612416A>C | CA357603102 | DSPP | c.230A>C (p.Lys77Thr)
| |
| 4 | g.87612416A>G | CA357603103 | DSPP | c.230A>G (p.Lys77Arg)
| |
| 4 | g.87612416A>T | CA357603104 | DSPP | c.230A>T (p.Lys77Met)
| |
| 4 | g.87612417G>A | CA440294163 | DSPP | c.231G>A (p.Lys77=)
| |
| 4 | g.87612417G>C | CA357603106 | DSPP | c.231G>C (p.Lys77Asn)
| |
| 4 | g.87612417G>T | CA357603105 | DSPP | c.231G>T (p.Lys77Asn)
| |
| 4 | g.87612418G>A | CA357603107 | DSPP | c.232G>A (p.Gly78Arg)
| |
| 4 | g.87612418G>C | CA357603108 | DSPP | c.232G>C (p.Gly78Arg)
| |
| 4 | g.87612418G>T | CA357603109 | DSPP | c.232G>T (p.Gly78Ter)
| |
| 4 | g.87612419G>A | CA357603110 | DSPP | c.233G>A (p.Gly78Glu)
| gnomAD v4 |
| 4 | g.87612419G>C | CA357603111 | DSPP | c.233G>C (p.Gly78Ala)
| |
| 4 | g.87612419G>T | CA357603112 | DSPP | c.233G>T (p.Gly78Val)
| |
| 4 | g.87612420A= | CA1474384432 | DSPP | c.234A= (p.Gly78=)
| |
| 4 | g.87612420A>C | CA440294168 | DSPP | c.234A>C (p.Gly78=)
| |
| 4 | g.87612420A>G | CA440294166 | DSPP | c.234A>G (p.Gly78=)
| dbSNP |
| 4 | g.87612420A>T | CA440294167 | DSPP | c.234A>T (p.Gly78=)
| |
| 4 | g.87612421G>A | CA357603114 | DSPP | c.235G>A (p.Glu79Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.87612421G>C | CA3000855 | DSPP | c.235G>C (p.Glu79Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612421G= | CA1474384433 | DSPP | c.235G= (p.Glu79=)
| |
| 4 | g.87612421G>T | CA357603113 | DSPP | c.235G>T (p.Glu79Ter)
| |
| 4 | g.87612422A>C | CA357603115 | DSPP | c.236A>C (p.Glu79Ala)
| |
| 4 | g.87612422A>G | CA357603116 | DSPP | c.236A>G (p.Glu79Gly)
| |
| 4 | g.87612422A>T | CA357603117 | DSPP | c.236A>T (p.Glu79Val)
| |
| 4 | g.87612423A>C | CA357603118 | DSPP | c.237A>C (p.Glu79Asp)
| |
| 4 | g.87612423A>G | CA440294172 | DSPP | c.237A>G (p.Glu79=)
| |
| 4 | g.87612423A>T | CA357603119 | DSPP | c.237A>T (p.Glu79Asp)
| |
| 4 | g.87612424G>A | CA357603120 | DSPP | c.238G>A (p.Gly80Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612424G>C | CA357603122 | DSPP | c.238G>C (p.Gly80Arg)
| |
| 4 | g.87612424G= | CA1474384434 | DSPP | c.238G= (p.Gly80=)
| |
| 4 | g.87612424G>T | CA357603121 | DSPP | c.238G>T (p.Gly80Trp)
| |
| 4 | g.87612425G>A | CA100849477 | DSPP | c.239G>A (p.Gly80Glu)
| dbSNP gnomAD v4 |
| 4 | g.87612425G>C | CA357603123 | DSPP | c.239G>C (p.Gly80Ala)
| |
| 4 | g.87612425G= | CA1474384435 | DSPP | c.239G= (p.Gly80=)
| |
| 4 | g.87612425G>T | CA357603124 | DSPP | c.239G>T (p.Gly80Val)
| |
| 4 | g.87612426G>A | CA3000856 | DSPP | c.240G>A (p.Gly80=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612426G>C | CA440294175 | DSPP | c.240G>C (p.Gly80=)
| |
| 4 | g.87612426G= | CA1474384436 | DSPP | c.240G= (p.Gly80=)
| |
| 4 | g.87612426G>T | CA440294176 | DSPP | c.240G>T (p.Gly80=)
| dbSNP gnomAD v4 |
| 4 | g.87612427A= | CA1474384437 | DSPP | c.241A= (p.Asn81=)
| |
| 4 | g.87612427A>C | CA357603125 | DSPP | c.241A>C (p.Asn81His)
| gnomAD v4 |
| 4 | g.87612427A>G | CA357603126 | DSPP | c.241A>G (p.Asn81Asp)
| dbSNP gnomAD v4 |
| 4 | g.87612427A>T | CA357603127 | DSPP | c.241A>T (p.Asn81Tyr)
| |
| 4 | g.87612428A>C | CA357603128 | DSPP | c.242A>C (p.Asn81Thr)
| |
| 4 | g.87612428A>G | CA357603129 | DSPP | c.242A>G (p.Asn81Ser)
| |
| 4 | g.87612428A>T | CA357603130 | DSPP | c.242A>T (p.Asn81Ile)
| |
| 4 | g.87612429T>A | CA357603131 | DSPP | c.243T>A (p.Asn81Lys)
| |
| 4 | g.87612429T>C | CA440294181 | DSPP | c.243T>C (p.Asn81=)
| |
| 4 | g.87612429T>G | CA357603132 | DSPP | c.243T>G (p.Asn81Lys)
| |
| 4 | g.87612430G>A | CA357603134 | DSPP | c.244G>A (p.Gly82Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612430G>C | CA357603135 | DSPP | c.244G>C (p.Gly82Arg)
| |
| 4 | g.87612430G= | CA1474384438 | DSPP | c.244G= (p.Gly82=)
| |
| 4 | g.87612430G>T | CA357603133 | DSPP | c.244G>T (p.Gly82Cys)
| |
| 4 | g.87612431G>A | CA3000858 | DSPP | c.245G>A (p.Gly82Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612431G>C | CA357603136 | DSPP | c.245G>C (p.Gly82Ala)
| |
| 4 | g.87612431G= | CA1474384439 | DSPP | c.245G= (p.Gly82=)
| |
| 4 | g.87612431G>T | CA3000857 | DSPP | c.245G>T (p.Gly82Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612432del | CA2671358387 | DSPP | c.246del (p.Ser83LeufsTer6)
| gnomAD v4 |
| 4 | g.87612432C>A | CA440294182 | DSPP | c.246C>A (p.Gly82=)
| |
| 4 | g.87612432C= | CA1474384440 | DSPP | c.246C= (p.Gly82=)
| |
| 4 | g.87612432C>G | CA440294183 | DSPP | c.246C>G (p.Gly82=)
| |
| 4 | g.87612432C>T | CA440294185 | DSPP | c.246C>T (p.Gly82=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612433T>A | CA357603137 | DSPP | c.247T>A (p.Ser83Thr)
| |
| 4 | g.87612433T>C | CA357603139 | DSPP | c.247T>C (p.Ser83Pro)
| |
| 4 | g.87612433T>G | CA357603138 | DSPP | c.247T>G (p.Ser83Ala)
| |
| 4 | g.87612434C>A | CA357603140 | DSPP | c.248C>A (p.Ser83Tyr)
| |
| 4 | g.87612434C= | CA1474384441 | DSPP | c.248C= (p.Ser83=)
| |
| 4 | g.87612434C>G | CA357603141 | DSPP | c.248C>G (p.Ser83Cys)
| gnomAD v4 |
| 4 | g.87612434C>T | CA3000859 | DSPP | c.248C>T (p.Ser83Phe)
| dbSNP ExAC gnomAD v2 |
| 4 | g.87612435T>A | CA440294192 | DSPP | c.249T>A (p.Ser83=)
| |
| 4 | g.87612435T>C | CA440294191 | DSPP | c.249T>C (p.Ser83=)
| gnomAD v4 COSMIC |
| 4 | g.87612435T>G | CA440294190 | DSPP | c.249T>G (p.Ser83=)
| |
| 4 | g.87612436A= | CA1474384442 | DSPP | c.250A= (p.Lys84=)
| |
| 4 | g.87612436A>C | CA357603142 | DSPP | c.250A>C (p.Lys84Gln)
| dbSNP |
| 4 | g.87612436A>G | CA357603143 | DSPP | c.250A>G (p.Lys84Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612436A>T | CA357603144 | DSPP | c.250A>T (p.Lys84Ter)
| |
| 4 | g.87612437A>C | CA357603145 | DSPP | c.251A>C (p.Lys84Thr)
| |
| 4 | g.87612437A>G | CA357603146 | DSPP | c.251A>G (p.Lys84Arg)
| |
| 4 | g.87612437A>T | CA357603147 | DSPP | c.251A>T (p.Lys84Met)
| |
| 4 | g.87612438G>A | CA440294196 | DSPP | c.252G>A (p.Lys84=)
| dbSNP |
| 4 | g.87612438G>C | CA357603148 | DSPP | c.252G>C (p.Lys84Asn)
| |
| 4 | g.87612438G= | CA1474384443 | DSPP | c.252G= (p.Lys84=)
| |
| 4 | g.87612438G>T | CA357603149 | DSPP | c.252G>T (p.Lys84Asn)
| COSMIC |
| 4 | g.87612439T>A | CA357603152 | DSPP | c.253T>A (p.Trp85Arg)
| gnomAD v4 |
| 4 | g.87612439T>C | CA357603151 | DSPP | c.253T>C (p.Trp85Arg)
| |
| 4 | g.87612439T>G | CA357603150 | DSPP | c.253T>G (p.Trp85Gly)
| gnomAD v4 |
| 4 | g.87612440G>A | CA357603153 | DSPP | c.254G>A (p.Trp85Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612440G>C | CA357603154 | DSPP | c.254G>C (p.Trp85Ser)
| |
| 4 | g.87612440G= | CA1474384444 | DSPP | c.254G= (p.Trp85=)
| |
| 4 | g.87612440G>T | CA357603155 | DSPP | c.254G>T (p.Trp85Leu)
| |
| 4 | g.87612442del | CA440294198 | DSPP | c.256del (p.Ala86GlnfsTer3)
| COSMIC |
| 4 | g.87612441G>A | CA357603156 | DSPP | c.255G>A (p.Trp85Ter)
| dbSNP |
| 4 | g.87612441G>C | CA357603157 | DSPP | c.255G>C (p.Trp85Cys)
| |
| 4 | g.87612441G= | CA1474384445 | DSPP | c.255G= (p.Trp85=)
| |
| 4 | g.87612441G>T | CA357603158 | DSPP | c.255G>T (p.Trp85Cys)
| |
| 4 | g.87612442G>A | CA357603159 | DSPP | c.256G>A (p.Ala86Thr)
| |
| 4 | g.87612442G>C | CA357603160 | DSPP | c.256G>C (p.Ala86Pro)
| |
| 4 | g.87612442G>T | CA357603161 | DSPP | c.256G>T (p.Ala86Ser)
| |
| 4 | g.87612443C>A | CA357603162 | DSPP | c.257C>A (p.Ala86Glu)
| |
| 4 | g.87612443C>G | CA357603163 | DSPP | c.257C>G (p.Ala86Gly)
| |
| 4 | g.87612443C>T | CA357603164 | DSPP | c.257C>T (p.Ala86Val)
| gnomAD v4 |
| 4 | g.87612444A>C | CA440294201 | DSPP | c.258A>C (p.Ala86=)
| gnomAD v4 |
| 4 | g.87612444A>G | CA440294203 | DSPP | c.258A>G (p.Ala86=)
| |
| 4 | g.87612444A>T | CA440294205 | DSPP | c.258A>T (p.Ala86=)
| |
| 4 | g.87612445G>A | CA357603167 | DSPP | c.259G>A (p.Glu87Lys)
| |
| 4 | g.87612445G>C | CA357603166 | DSPP | c.259G>C (p.Glu87Gln)
| |
| 4 | g.87612445G>T | CA357603165 | DSPP | c.259G>T (p.Glu87Ter)
| |
| 4 | g.87612446A>C | CA357603170 | DSPP | c.260A>C (p.Glu87Ala)
| gnomAD v4 |
| 4 | g.87612446A>G | CA357603168 | DSPP | c.260A>G (p.Glu87Gly)
| |
| 4 | g.87612446A>T | CA357603169 | DSPP | c.260A>T (p.Glu87Val)
| |
| 4 | g.87612447A>C | CA357603171 | DSPP | c.261A>C (p.Glu87Asp)
| |
| 4 | g.87612447A>G | CA440294208 | DSPP | c.261A>G (p.Glu87=)
| |
| 4 | g.87612447A>T | CA357603172 | DSPP | c.261A>T (p.Glu87Asp)
| |
| 4 | g.87612449_87612451del | CA2671358388 | DSPP | c.263_265del (p.Val88del)
| gnomAD v4 |
| 4 | g.87612448G>A | CA357603173 | DSPP | c.262G>A (p.Val88Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612448G>C | CA357603174 | DSPP | c.262G>C (p.Val88Leu)
| |
| 4 | g.87612448G= | CA1474384446 | DSPP | c.262G= (p.Val88=)
| |
| 4 | g.87612448G>T | CA357603175 | DSPP | c.262G>T (p.Val88Leu)
| |
| 4 | g.87612449T>A | CA3000861 | DSPP | c.263T>A (p.Val88Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612449T>C | CA3000860 | DSPP | c.263T>C (p.Val88Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612449T>G | CA357603176 | DSPP | c.263T>G (p.Val88Gly)
| |
| 4 | g.87612449T= | CA1474384447 | DSPP | c.263T= (p.Val88=)
| |
| 4 | g.87612450A= | CA1474384448 | DSPP | c.264A= (p.Val88=)
| |
| 4 | g.87612450A>C | CA440294212 | DSPP | c.264A>C (p.Val88=)
| |
| 4 | g.87612450A>G | CA440294213 | DSPP | c.264A>G (p.Val88=)
| |
| 4 | g.87612450A>T | CA3000862 | DSPP | c.264A>T (p.Val88=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612450_87612451delinsTC | CA2573138372 | DSPP | c.264_265delinsTC (p.Gly89Arg)
| ClinVar dbSNP |
| 4 | g.87612451G>A | CA357603177 | DSPP | c.265G>A (p.Gly89Arg)
| |
| 4 | g.87612451G>C | CA3000863 | DSPP | c.265G>C (p.Gly89Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612451G= | CA1474384449 | DSPP | c.265G= (p.Gly89=)
| |
| 4 | g.87612451G>T | CA357603178 | DSPP | c.265G>T (p.Gly89Ter)
| |
| 4 | g.87612452G>A | CA357603179 | DSPP | c.266G>A (p.Gly89Glu)
| dbSNP gnomAD v4 COSMIC |
| 4 | g.87612452G>C | CA357603181 | DSPP | c.266G>C (p.Gly89Ala)
| |
| 4 | g.87612452G= | CA1474384450 | DSPP | c.266G= (p.Gly89=)
| |
| 4 | g.87612452G>T | CA357603180 | DSPP | c.266G>T (p.Gly89Val)
| |
| 4 | g.87612453A>C | CA440294218 | DSPP | c.267A>C (p.Gly89=)
| |
| 4 | g.87612453A>G | CA440294219 | DSPP | c.267A>G (p.Gly89=)
| |
| 4 | g.87612453A>T | CA440294220 | DSPP | c.267A>T (p.Gly89=)
| |
| 4 | g.87612454G>A | CA357603182 | DSPP | c.268G>A (p.Gly90Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612454G>C | CA357603183 | DSPP | c.268G>C (p.Gly90Arg)
| |
| 4 | g.87612454G= | CA1474384451 | DSPP | c.268G= (p.Gly90=)
| |
| 4 | g.87612454G>T | CA357603184 | DSPP | c.268G>T (p.Gly90Trp)
| |
| 4 | g.87612455G>A | CA357603185 | DSPP | c.269G>A (p.Gly90Glu)
| gnomAD v4 |
| 4 | g.87612455G>C | CA357603186 | DSPP | c.269G>C (p.Gly90Ala)
| gnomAD v4 |
| 4 | g.87612455G>T | CA357603187 | DSPP | c.269G>T (p.Gly90Val)
| |
| 4 | g.87612456G>A | CA100849494 | DSPP | c.270G>A (p.Gly90=)
| dbSNP |
| 4 | g.87612456G>C | CA3000864 | DSPP | c.270G>C (p.Gly90=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612456G= | CA1474384452 | DSPP | c.270G= (p.Gly90=)
| |
| 4 | g.87612456G>T | CA440294224 | DSPP | c.270G>T (p.Gly90=)
| |
| 4 | g.87612457A>C | CA357603188 | DSPP | c.271A>C (p.Lys91Gln)
| |
| 4 | g.87612457A>G | CA357603189 | DSPP | c.271A>G (p.Lys91Glu)
| |
| 4 | g.87612457A>T | CA357603190 | DSPP | c.271A>T (p.Lys91Ter)
| |
| 4 | g.87612458del | CA2671358389 | DSPP | c.272del (p.Lys91ArgfsTer9)
| gnomAD v4 |
| 4 | g.87612458A>C | CA357603192 | DSPP | c.272A>C (p.Lys91Thr)
| |
| 4 | g.87612458A>G | CA357603193 | DSPP | c.272A>G (p.Lys91Arg)
| |
| 4 | g.87612458A>T | CA357603191 | DSPP | c.272A>T (p.Lys91Met)
| |
| 4 | g.87612459G>A | CA440294226 | DSPP | c.273G>A (p.Lys91=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612459G>C | CA357603194 | DSPP | c.273G>C (p.Lys91Asn)
| |
| 4 | g.87612459G= | CA1474384453 | DSPP | c.273G= (p.Lys91=)
| |
| 4 | g.87612459G>T | CA357603195 | DSPP | c.273G>T (p.Lys91Asn)
| |
