UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 4 | g.87612460A= | CA1474384454 | DSPP | c.274A= (p.Ser92=) | |
| 4 | g.87612460A>C | CA357603196 | DSPP | c.274A>C (p.Ser92Arg) | dbSNP |
| 4 | g.87612460A>G | CA357603197 | DSPP | c.274A>G (p.Ser92Gly) | gnomAD v4 |
| 4 | g.87612460A>T | CA357603198 | DSPP | c.274A>T (p.Ser92Cys) | gnomAD v4 |
| 4 | g.87612461G>A | CA357603199 | DSPP | c.275G>A (p.Ser92Asn) | |
| 4 | g.87612461G>C | CA357603200 | DSPP | c.275G>C (p.Ser92Thr) | |
| 4 | g.87612461G>T | CA357603201 | DSPP | c.275G>T (p.Ser92Ile) | |
| 4 | g.87612462T>A | CA357603202 | DSPP | c.276T>A (p.Ser92Arg) | |
| 4 | g.87612462T>C | CA440294230 | DSPP | c.276T>C (p.Ser92=) | |
| 4 | g.87612462T>G | CA357603203 | DSPP | c.276T>G (p.Ser92Arg) | |
| 4 | g.87612466del | CA2671358390 | DSPP | c.280del (p.Ser94LeufsTer6) | gnomAD v4 |
| 4 | g.87612463T>A | CA357603204 | DSPP | c.277T>A (p.Phe93Ile) | |
| 4 | g.87612463T>C | CA357603205 | DSPP | c.277T>C (p.Phe93Leu) | |
| 4 | g.87612463T>G | CA357603206 | DSPP | c.277T>G (p.Phe93Val) | |
| 4 | g.87612464T>A | CA357603209 | DSPP | c.278T>A (p.Phe93Tyr) | |
| 4 | g.87612464T>C | CA357603207 | DSPP | c.278T>C (p.Phe93Ser) | gnomAD v4 |
| 4 | g.87612464T>G | CA357603208 | DSPP | c.278T>G (p.Phe93Cys) | |
| 4 | g.87612465T>A | CA357603210 | DSPP | c.279T>A (p.Phe93Leu) | |
| 4 | g.87612465T>C | CA440294235 | DSPP | c.279T>C (p.Phe93=) | |
| 4 | g.87612465T>G | CA3000865 | DSPP | c.279T>G (p.Phe93Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612465T= | CA1474384455 | DSPP | c.279T= (p.Phe93=) | |
| 4 | g.87612466T>A | CA357603211 | DSPP | c.280T>A (p.Ser94Thr) | gnomAD v4 |
| 4 | g.87612466T>C | CA357603212 | DSPP | c.280T>C (p.Ser94Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612466T>G | CA357603213 | DSPP | c.280T>G (p.Ser94Ala) | |
| 4 | g.87612466T= | CA1474384456 | DSPP | c.280T= (p.Ser94=) | |
| 4 | g.87612467C>A | CA357603214 | DSPP | c.281C>A (p.Ser94Tyr) | |
| 4 | g.87612467C>G | CA357603215 | DSPP | c.281C>G (p.Ser94Cys) | |
| 4 | g.87612467C>T | CA357603216 | DSPP | c.281C>T (p.Ser94Phe) | |
| 4 | g.87612468T>A | CA440294245 | DSPP | c.282T>A (p.Ser94=) | |
| 4 | g.87612468T>C | CA440294246 | DSPP | c.282T>C (p.Ser94=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612468T>G | CA440294247 | DSPP | c.282T>G (p.Ser94=) | |
| 4 | g.87612468T= | CA1474384457 | DSPP | c.282T= (p.Ser94=) | |
| 4 | g.87612469A>C | CA357603217 | DSPP | c.283A>C (p.Thr95Pro) | |
| 4 | g.87612469A>G | CA357603218 | DSPP | c.283A>G (p.Thr95Ala) | |
| 4 | g.87612469A>T | CA357603219 | DSPP | c.283A>T (p.Thr95Ser) | |
| 4 | g.87612470C>A | CA357603220 | DSPP | c.284C>A (p.Thr95Lys) | gnomAD v4 |
| 4 | g.87612470C= | CA1474384458 | DSPP | c.284C= (p.Thr95=) | |
| 4 | g.87612470C>G | CA357603221 | DSPP | c.284C>G (p.Thr95Arg) | |
| 4 | g.87612470C>T | CA3000866 | DSPP | c.284C>T (p.Thr95Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.87612471A= | CA1474384459 | DSPP | c.285A= (p.Thr95=) | |
| 4 | g.87612471A>C | CA440294255 | DSPP | c.285A>C (p.Thr95=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.87612471A>G | CA440294257 | DSPP | c.285A>G (p.Thr95=) | |
| 4 | g.87612471A>T | CA440294256 | DSPP | c.285A>T (p.Thr95=) | |
| 4 | g.87612472T>A | CA357603222 | DSPP | c.286T>A (p.Tyr96Asn) | |
| 4 | g.87612472T>C | CA357603223 | DSPP | c.286T>C (p.Tyr96His) | |
| 4 | g.87612472T>G | CA357603224 | DSPP | c.286T>G (p.Tyr96Asp) | |
| 4 | g.87612473A>C | CA357603225 | DSPP | c.287A>C (p.Tyr96Ser) | |
| 4 | g.87612473A>G | CA357603226 | DSPP | c.287A>G (p.Tyr96Cys) | |
| 4 | g.87612473A>T | CA357603227 | DSPP | c.287A>T (p.Tyr96Phe) | |
| 4 | g.87612474T>A | CA3000867 | DSPP | c.288T>A (p.Tyr96Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612474T>C | CA440294263 | DSPP | c.288T>C (p.Tyr96=) | |
| 4 | g.87612474T>G | CA357603228 | DSPP | c.288T>G (p.Tyr96Ter) | |
| 4 | g.87612474T= | CA1474384460 | DSPP | c.288T= (p.Tyr96=) | |
| 4 | g.87612475T>A | CA357603229 | DSPP | c.289T>A (p.Ser97Thr) | |
| 4 | g.87612475T>C | CA357603230 | DSPP | c.289T>C (p.Ser97Pro) | |
| 4 | g.87612475T>G | CA357603231 | DSPP | c.289T>G (p.Ser97Ala) | |
| 4 | g.87612476C>A | CA357603232 | DSPP | c.290C>A (p.Ser97Tyr) | |
| 4 | g.87612476C= | CA1474384461 | DSPP | c.290C= (p.Ser97=) | |
| 4 | g.87612476C>G | CA357603233 | DSPP | c.290C>G (p.Ser97Cys) | |
| 4 | g.87612476C>T | CA3000868 | DSPP | c.290C>T (p.Ser97Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612477C>A | CA440294267 | DSPP | c.291C>A (p.Ser97=) | |
| 4 | g.87612477C>G | CA440294268 | DSPP | c.291C>G (p.Ser97=) | |
| 4 | g.87612477C>T | CA440294269 | DSPP | c.291C>T (p.Ser97=) | |
| 4 | g.87612478A= | CA1474384462 | DSPP | c.292A= (p.Thr98=) | |
| 4 | g.87612478A>C | CA357603234 | DSPP | c.292A>C (p.Thr98Pro) | |
| 4 | g.87612478A>G | CA357603236 | DSPP | c.292A>G (p.Thr98Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.87612478A>T | CA357603235 | DSPP | c.292A>T (p.Thr98Ser) | |
| 4 | g.87612479C>A | CA357603237 | DSPP | c.293C>A (p.Thr98Lys) | |
| 4 | g.87612479C>G | CA357603238 | DSPP | c.293C>G (p.Thr98Arg) | |
| 4 | g.87612479C>T | CA357603239 | DSPP | c.293C>T (p.Thr98Ile) | gnomAD v4 |
| 4 | g.87612480A= | CA1474384463 | DSPP | c.294A= (p.Thr98=) | |
| 4 | g.87612480A>C | CA440294275 | DSPP | c.294A>C (p.Thr98=) | |
| 4 | g.87612480A>G | CA3000869 | DSPP | c.294A>G (p.Thr98=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.87612480A>T | CA440294273 | DSPP | c.294A>T (p.Thr98=) | |
| 4 | g.87612481T>A | CA357603240 | DSPP | c.295T>A (p.Leu99Ile) | |
| 4 | g.87612481T>C | CA440294276 | DSPP | c.295T>C (p.Leu99=) | |
| 4 | g.87612481T>G | CA357603241 | DSPP | c.295T>G (p.Leu99Val) | |
| 4 | g.87612482T>A | CA357603242 | DSPP | c.296T>A (p.Leu99Ter) | |
| 4 | g.87612482T>C | CA357603243 | DSPP | c.296T>C (p.Leu99Ser) | |
| 4 | g.87612482T>G | CA357603244 | DSPP | c.296T>G (p.Leu99Ter) | |
| 4 | g.87612483A>C | CA357603245 | DSPP | c.297A>C (p.Leu99Phe) | |
| 4 | g.87612483A>G | CA440294278 | DSPP | c.297A>G (p.Leu99=) | gnomAD v4 |
| 4 | g.87612483A>T | CA357603246 | DSPP | c.297A>T (p.Leu99Phe) | |
| 4 | g.87612484G>A | CA357603249 | DSPP | c.298G>A (p.Ala100Thr) | |
| 4 | g.87612484G>C | CA357603248 | DSPP | c.298G>C (p.Ala100Pro) | |
| 4 | g.87612484G>T | CA357603247 | DSPP | c.298G>T (p.Ala100Ser) | |
| 4 | g.87612485C>A | CA357603250 | DSPP | c.299C>A (p.Ala100Glu) | |
| 4 | g.87612485C>G | CA357603252 | DSPP | c.299C>G (p.Ala100Gly) | |
| 4 | g.87612485C>T | CA357603251 | DSPP | c.299C>T (p.Ala100Val) | gnomAD v4 |
| 4 | g.87612486A>C | CA440294285 | DSPP | c.300A>C (p.Ala100=) | |
| 4 | g.87612486A>G | CA440294288 | DSPP | c.300A>G (p.Ala100=) | |
| 4 | g.87612486A>T | CA440294286 | DSPP | c.300A>T (p.Ala100=) | |
| 4 | g.87612487A>C | CA357603253 | DSPP | c.301A>C (p.Asn101His) | |
| 4 | g.87612487A>G | CA357603255 | DSPP | c.301A>G (p.Asn101Asp) | |
| 4 | g.87612487A>T | CA357603254 | DSPP | c.301A>T (p.Asn101Tyr) | |
| 4 | g.87612488A= | CA1474384464 | DSPP | c.302A= (p.Asn101=) | |
| 4 | g.87612488A>C | CA357603256 | DSPP | c.302A>C (p.Asn101Thr) | |
| 4 | g.87612488A>G | CA357603257 | DSPP | c.302A>G (p.Asn101Ser) | |
| 4 | g.87612488A>T | CA357603258 | DSPP | c.302A>T (p.Asn101Ile) | dbSNP gnomAD v3 gnomAD v4 |