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 |
|---|---|---|---|---|---|
| 5 | g.78969067C>A | CA360194038 | ARSB | c.438G>T (p.Trp146Cys) n.509G>T | gnomAD v4 |
| 5 | g.78969067C= | CA1557703761 | ARSB | c.438G= (p.Trp146=) n.509G= | |
| 5 | g.78969067C>G | CA360194040 | ARSB | c.438G>C (p.Trp146Cys) n.509G>C | |
| 5 | g.78969067C>T | CA121107823 | ARSB | c.438G>A (p.Trp146Ter) n.509G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969068del | CA2580073473 | ARSB | c.438del (p.Trp146CysfsTer?) n.509del | ClinVar |
| 5 | g.78969068C>A | CA360194041 | ARSB | c.437G>T (p.Trp146Leu) n.508G>T | ClinVar dbSNP |
| 5 | g.78969068C= | CA1557703762 | ARSB | c.437G= (p.Trp146=) n.508G= | |
| 5 | g.78969068C>G | CA360194043 | ARSB | c.437G>C (p.Trp146Ser) n.508G>C | ClinVar dbSNP |
| 5 | g.78969068C>T | CA360194044 | ARSB | c.437G>A (p.Trp146Ter) n.508G>A | |
| 5 | g.78969069A= | CA1557703763 | ARSB | c.436T= (p.Trp146=) n.507T= | |
| 5 | g.78969069A>C | CA360194045 | ARSB | c.436T>G (p.Trp146Gly) n.507T>G | |
| 5 | g.78969069A>G | CA360194048 | ARSB | c.436T>C (p.Trp146Arg) n.507T>C | ClinVar dbSNP |
| 5 | g.78969069A>T | CA360194046 | ARSB | c.436T>A (p.Trp146Arg) n.507T>A | |
| 5 | g.78969070T>A | CA360194049 | ARSB | c.435A>T (p.Lys145Asn) n.506A>T | |
| 5 | g.78969070T>C | CA445103417 | ARSB | c.435A>G (p.Lys145=) n.506A>G | |
| 5 | g.78969070T>G | CA360194051 | ARSB | c.435A>C (p.Lys145Asn) n.506A>C | |
| 5 | g.78969071T>A | CA360194052 | ARSB | c.434A>T (p.Lys145Ile) n.505A>T | |
| 5 | g.78969071T>C | CA360194054 | ARSB | c.434A>G (p.Lys145Arg) n.505A>G | |
| 5 | g.78969071T>G | CA360194055 | ARSB | c.434A>C (p.Lys145Thr) n.505A>C | |
| 5 | g.78969072T>A | CA360194056 | ARSB | c.433A>T (p.Lys145Ter) n.504A>T | |
| 5 | g.78969072T>C | CA3318266 | ARSB | c.433A>G (p.Lys145Glu) n.504A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969072T>G | CA360194058 | ARSB | c.433A>C (p.Lys145Gln) n.504A>C | |
| 5 | g.78969072T= | CA1557703764 | ARSB | c.433A= (p.Lys145=) n.504A= | |
| 5 | g.78969073T>A | CA445103432 | ARSB | c.432A>T (p.Gly144=) n.503A>T | |
| 5 | g.78969073T>C | CA445103436 | ARSB | c.432A>G (p.Gly144=) n.503A>G | ClinVar |
| 5 | g.78969073T>G | CA445103437 | ARSB | c.432A>C (p.Gly144=) n.503A>C | dbSNP |
| 5 | g.78969073T= | CA1557703765 | ARSB | c.432A= (p.Gly144=) n.503A= | |
| 5 | g.78969074C>A | CA360194060 | ARSB | c.431G>T (p.Gly144Val) n.502G>T | |
| 5 | g.78969074C>G | CA360194062 | ARSB | c.431G>C (p.Gly144Ala) n.502G>C | |
| 5 | g.78969074C>T | CA360194063 | ARSB | c.431G>A (p.Gly144Glu) n.502G>A | |
| 5 | g.78969075C>A | CA360194067 | ARSB | c.430G>T (p.Gly144Ter) n.501G>T | gnomAD v4 |
| 5 | g.78969075C= | CA1557703766 | ARSB | c.430G= (p.Gly144=) n.501G= | |
| 5 | g.78969075C>G | CA360194066 | ARSB | c.430G>C (p.Gly144Arg) n.501G>C | ClinVar dbSNP |
| 5 | g.78969075C>T | CA3318267 | ARSB | c.430G>A (p.Gly144Arg) n.501G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969076G>A | CA3318268 | ARSB | c.429C>T (p.Val143=) n.500C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969076G>C | CA445103444 | ARSB | c.429C>G (p.Val143=) n.500C>G | dbSNP |
| 5 | g.78969076G= | CA1557703767 | ARSB | c.429C= (p.Val143=) n.500C= | |
| 5 | g.78969076G>T | CA445103443 | ARSB | c.429C>A (p.Val143=) n.500C>A | gnomAD v4 |
| 5 | g.78969077A>C | CA360194073 | ARSB | c.428T>G (p.Val143Gly) n.499T>G | |
| 5 | g.78969077A>G | CA360194071 | ARSB | c.428T>C (p.Val143Ala) n.499T>C | |
| 5 | g.78969077A>T | CA360194072 | ARSB | c.428T>A (p.Val143Asp) n.499T>A | |
| 5 | g.78969077_78969078delinsAC | CA1557703768 | ARSB | c.427_428delinsGT (p.Val143=) n.498_499delinsGT | |
| 5 | g.78969078C>A | CA360194077 | ARSB | c.427G>T (p.Val143Phe) n.498G>T | |
| 5 | g.78969078C= | CA1557703769 | ARSB | c.427G= (p.Val143=) n.498G= | |
| 5 | g.78969078C>G | CA360194079 | ARSB | c.427G>C (p.Val143Leu) n.498G>C | |
| 5 | g.78969078C>T | CA360194082 | ARSB | c.427G>A (p.Val143Ile) n.498G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969079del | CA3318269 | ARSB | c.427del (p.Val143SerfsTer?) n.498del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969079C>A | CA360194085 | ARSB | c.426G>T (p.Met142Ile) n.497G>T | |
| 5 | g.78969079C= | CA1557703770 | ARSB | c.426G= (p.Met142=) n.497G= | |
| 5 | g.78969079C>G | CA360194088 | ARSB | c.426G>C (p.Met142Ile) n.497G>C | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969079C>T | CA360194090 | ARSB | c.426G>A (p.Met142Ile) n.497G>A | gnomAD v4 |
| 5 | g.78969080A>C | CA360194092 | ARSB | c.425T>G (p.Met142Arg) n.496T>G | |
| 5 | g.78969080A>G | CA360194093 | ARSB | c.425T>C (p.Met142Thr) n.496T>C | |
| 5 | g.78969080A>T | CA360194096 | ARSB | c.425T>A (p.Met142Lys) n.496T>A | |
| 5 | g.78969081T>A | CA360194101 | ARSB | c.424A>T (p.Met142Leu) n.495A>T | gnomAD v4 |
| 5 | g.78969081T>C | CA3318270 | ARSB | c.424A>G (p.Met142Val) n.495A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969081T>G | CA360194100 | ARSB | c.424A>C (p.Met142Leu) n.495A>C | |
| 5 | g.78969081T= | CA1557703771 | ARSB | c.424A= (p.Met142=) n.495A= | |
| 5 | g.78969082A= | CA1557703772 | ARSB | c.423T= (p.His141=) n.494T= | |
| 5 | g.78969082A>C | CA360194103 | ARSB | c.423T>G (p.His141Gln) n.494T>G | |
| 5 | g.78969082A>G | CA445103457 | ARSB | c.423T>C (p.His141=) n.494T>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969082A>T | CA360194106 | ARSB | c.423T>A (p.His141Gln) n.494T>A | |
| 5 | g.78969083T>A | CA360194108 | ARSB | c.422A>T (p.His141Leu) n.493A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969083T>C | CA3318271 | ARSB | c.422A>G (p.His141Arg) n.493A>G | dbSNP ExAC gnomAD v2 |
| 5 | g.78969083T>G | CA360194110 | ARSB | c.422A>C (p.His141Pro) n.493A>C | |
| 5 | g.78969083T= | CA1557703773 | ARSB | c.422A= (p.His141=) n.493A= | |
| 5 | g.78969084G>A | CA360194114 | ARSB | c.421C>T (p.His141Tyr) n.492C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969084G>C | CA360194115 | ARSB | c.421C>G (p.His141Asp) n.492C>G | |
| 5 | g.78969084G= | CA1557703774 | ARSB | c.421C= (p.His141=) n.492C= | |
| 5 | g.78969084G>T | CA360194117 | ARSB | c.421C>A (p.His141Asn) n.492C>A | gnomAD v4 |
| 5 | g.78969085G>A | CA445103464 | ARSB | c.420C>T (p.Thr140=) n.491C>T | |
| 5 | g.78969085G>C | CA445103465 | ARSB | c.420C>G (p.Thr140=) n.491C>G | |
| 5 | g.78969085G>T | CA445103471 | ARSB | c.420C>A (p.Thr140=) n.491C>A | |
| 5 | g.78969086G>A | CA360194119 | ARSB | c.419C>T (p.Thr140Ile) n.490C>T | gnomAD v4 |
| 5 | g.78969086G>C | CA360194120 | ARSB | c.419C>G (p.Thr140Ser) n.490C>G | |
| 5 | g.78969086G>T | CA360194123 | ARSB | c.419C>A (p.Thr140Asn) n.490C>A | |
| 5 | g.78969087T>A | CA360194128 | ARSB | c.418A>T (p.Thr140Ser) n.489A>T | |
| 5 | g.78969087T>C | CA360194130 | ARSB | c.418A>G (p.Thr140Ala) n.489A>G | |
| 5 | g.78969087T>G | CA360194127 | ARSB | c.418A>C (p.Thr140Pro) n.489A>C | ClinVar dbSNP |
| 5 | g.78969087T= | CA1557703775 | ARSB | c.418A= (p.Thr140=) n.489A= | |
| 5 | g.78969088A>C | CA445103475 | ARSB | c.417T>G (p.Thr139=) n.488T>G | |
| 5 | g.78969088A>G | CA445103477 | ARSB | c.417T>C (p.Thr139=) n.488T>C | ClinVar |
| 5 | g.78969088A>T | CA445103479 | ARSB | c.417T>A (p.Thr139=) n.488T>A | |
| 5 | g.78969089G>A | CA3318272 | ARSB | c.416C>T (p.Thr139Ile) n.487C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969089G>C | CA360194134 | ARSB | c.416C>G (p.Thr139Ser) n.487C>G | |
| 5 | g.78969089G= | CA1557703776 | ARSB | c.416C= (p.Thr139=) n.487C= | |
| 5 | g.78969089G>T | CA360194135 | ARSB | c.416C>A (p.Thr139Asn) n.487C>A | |
| 5 | g.78969090T>A | CA360194137 | ARSB | c.415A>T (p.Thr139Ser) n.486A>T | |
| 5 | g.78969090T>C | CA360194138 | ARSB | c.415A>G (p.Thr139Ala) n.486A>G | |
| 5 | g.78969090T>G | CA360194139 | ARSB | c.415A>C (p.Thr139Pro) n.486A>C | |
| 5 | g.78969091A>C | CA360194142 | ARSB | c.414T>G (p.Tyr138Ter) n.485T>G | |
| 5 | g.78969091A>G | CA445103486 | ARSB | c.414T>C (p.Tyr138=) n.485T>C | gnomAD v4 |
| 5 | g.78969091A>T | CA360194141 | ARSB | c.414T>A (p.Tyr138Ter) n.485T>A | |
| 5 | g.78969092T>A | CA360194144 | ARSB | c.413A>T (p.Tyr138Phe) n.484A>T | |
| 5 | g.78969092T>C | CA360194145 | ARSB | c.413A>G (p.Tyr138Cys) n.484A>G | ClinVar dbSNP |
| 5 | g.78969092T>G | CA360194147 | ARSB | c.413A>C (p.Tyr138Ser) n.484A>C | |
| 5 | g.78969092T= | CA1557703777 | ARSB | c.413A= (p.Tyr138=) n.484A= | |
| 5 | g.78969093A>C | CA360194149 | ARSB | c.412T>G (p.Tyr138Asp) n.483T>G | |
| 5 | g.78969093A>G | CA360194150 | ARSB | c.412T>C (p.Tyr138His) n.483T>C | |
| 5 | g.78969093A>T | CA360194152 | ARSB | c.412T>A (p.Tyr138Asn) n.483T>A | |
| 5 | g.78969094A>C | CA445103489 | ARSB | c.411T>G (p.Gly137=) n.482T>G | |
| 5 | g.78969094A>G | CA445103491 | ARSB | c.411T>C (p.Gly137=) n.482T>C | |
| 5 | g.78969094A>T | CA445103492 | ARSB | c.411T>A (p.Gly137=) n.482T>A | |
| 5 | g.78969095C>A | CA114600 | ARSB | c.410G>T (p.Gly137Val) n.481G>T | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969095C= | CA1557703778 | ARSB | c.410G= (p.Gly137=) n.481G= | |
| 5 | g.78969095C>G | CA360194155 | ARSB | c.410G>C (p.Gly137Ala) n.481G>C | |
| 5 | g.78969095C>T | CA3318273 | ARSB | c.410G>A (p.Gly137Asp) n.481G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969096C>A | CA360194157 | ARSB | c.409G>T (p.Gly137Cys) n.480G>T | |
| 5 | g.78969096C>G | CA360194159 | ARSB | c.409G>C (p.Gly137Arg) n.480G>C | |
| 5 | g.78969096C>T | CA360194161 | ARSB | c.409G>A (p.Gly137Ser) n.480G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.78969097T>A | CA445103498 | ARSB | c.408A>T (p.Ala136=) n.479A>T | |
| 5 | g.78969097T>C | CA445103499 | ARSB | c.408A>G (p.Ala136=) n.479A>G | |
| 5 | g.78969097T>G | CA445103497 | ARSB | c.408A>C (p.Ala136=) n.479A>C | |
| 5 | g.78969098G>A | CA3318274 | ARSB | c.407C>T (p.Ala136Val) n.478C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969098G>C | CA360194163 | ARSB | c.407C>G (p.Ala136Gly) n.478C>G | gnomAD v4 |
| 5 | g.78969098G= | CA1557703779 | ARSB | c.407C= (p.Ala136=) n.478C= | |
| 5 | g.78969098G>T | CA360194164 | ARSB | c.407C>A (p.Ala136Glu) n.478C>A | |
| 5 | g.78969099C>A | CA360194167 | ARSB | c.406G>T (p.Ala136Ser) n.477G>T | |
| 5 | g.78969099C= | CA1557703780 | ARSB | c.406G= (p.Ala136=) n.477G= | |
| 5 | g.78969099C>G | CA360194168 | ARSB | c.406G>C (p.Ala136Pro) n.477G>C | |
| 5 | g.78969099C>T | CA3318275 | ARSB | c.406G>A (p.Ala136Thr) n.477G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969099_78969100delinsCT | CA1557703781 | ARSB | c.405_406delinsAG (p.Glu135=) n.476_477delinsAG | |
| 5 | g.78969100T>A | CA360194173 | ARSB | c.405A>T (p.Glu135Asp) n.476A>T | |
| 5 | g.78969100T>C | CA445103505 | ARSB | c.405A>G (p.Glu135=) n.476A>G | |
| 5 | g.78969100T>G | CA360194174 | ARSB | c.405A>C (p.Glu135Asp) n.476A>C | |
| 5 | g.78969101del | CA1557703782 | ARSB | c.405del (p.Ala136GlnfsTer?) n.476del | dbSNP |
| 5 | g.78969101T>A | CA360194182 | ARSB | c.404A>T (p.Glu135Val) n.475A>T | |
| 5 | g.78969101T>C | CA360194179 | ARSB | c.404A>G (p.Glu135Gly) n.475A>G | |
| 5 | g.78969101T>G | CA360194176 | ARSB | c.404A>C (p.Glu135Ala) n.475A>C | |
| 5 | g.78969102C>A | CA360194184 | ARSB | c.403G>T (p.Glu135Ter) n.474G>T | ClinVar |
| 5 | g.78969102C>G | CA360194187 | ARSB | c.403G>C (p.Glu135Gln) n.474G>C | |
| 5 | g.78969102C>T | CA360194186 | ARSB | c.403G>A (p.Glu135Lys) n.474G>A | |
| 5 | g.78969103T>A | CA360194190 | ARSB | c.402A>T (p.Lys134Asn) n.473A>T | |
| 5 | g.78969103T>C | CA445103509 | ARSB | c.402A>G (p.Lys134=) n.473A>G | |
| 5 | g.78969103T>G | CA360194192 | ARSB | c.402A>C (p.Lys134Asn) n.473A>C | |
| 5 | g.78969104T>A | CA360194195 | ARSB | c.401A>T (p.Lys134Ile) n.472A>T | |
| 5 | g.78969104T>C | CA3318276 | ARSB | c.401A>G (p.Lys134Arg) n.472A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969104T>G | CA360194198 | ARSB | c.401A>C (p.Lys134Thr) n.472A>C | gnomAD v4 |
| 5 | g.78969104T= | CA1557703783 | ARSB | c.401A= (p.Lys134=) n.472A= | |
| 5 | g.78969105T>A | CA360194206 | ARSB | c.400A>T (p.Lys134Ter) n.471A>T | |
| 5 | g.78969105T>C | CA360194204 | ARSB | c.400A>G (p.Lys134Glu) n.471A>G | gnomAD v4 |
| 5 | g.78969105T>G | CA360194202 | ARSB | c.400A>C (p.Lys134Gln) n.471A>C | gnomAD v4 |
| 5 | g.78969106T>A | CA445103513 | ARSB | c.399A>T (p.Leu133=) n.470A>T | |
| 5 | g.78969106T>C | CA3318277 | ARSB | c.399A>G (p.Leu133=) n.470A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969106T>G | CA445103515 | ARSB | c.399A>C (p.Leu133=) n.470A>C | |
| 5 | g.78969106T= | CA1557703784 | ARSB | c.399A= (p.Leu133=) n.470A= | |
| 5 | g.78969107A>C | CA360194211 | ARSB | c.398T>G (p.Leu133Arg) n.469T>G | |
| 5 | g.78969107A>G | CA360194212 | ARSB | c.398T>C (p.Leu133Pro) n.469T>C | |
| 5 | g.78969107A>T | CA360194215 | ARSB | c.398T>A (p.Leu133Gln) n.469T>A | |
| 5 | g.78969108G>A | CA445103517 | ARSB | c.397C>T (p.Leu133=) n.468C>T | gnomAD v4 |
| 5 | g.78969108G>C | CA360194219 | ARSB | c.397C>G (p.Leu133Val) n.468C>G | |
| 5 | g.78969108G>T | CA360194221 | ARSB | c.397C>A (p.Leu133Ile) n.468C>A | |
| 5 | g.78969109G>A | CA445103519 | ARSB | c.396C>T (p.Leu132=) n.467C>T | |
| 5 | g.78969109G>C | CA121107922 | ARSB | c.396C>G (p.Leu132=) n.467C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969109G= | CA1557703785 | ARSB | c.396C= (p.Leu132=) n.467C= | |
| 5 | g.78969109G>T | CA445103520 | ARSB | c.396C>A (p.Leu132=) n.467C>A | gnomAD v4 |
| 5 | g.78969110A= | CA1557703786 | ARSB | c.395T= (p.Leu132=) n.466T= | |
| 5 | g.78969110A>C | CA360194223 | ARSB | c.395T>G (p.Leu132Arg) n.466T>G | |
| 5 | g.78969110A>G | CA360194228 | ARSB | c.395T>C (p.Leu132Pro) n.466T>C | ClinVar dbSNP |
| 5 | g.78969110A>T | CA360194225 | ARSB | c.395T>A (p.Leu132His) n.466T>A | gnomAD v4 |
| 5 | g.78969111G>A | CA360194229 | ARSB | c.394C>T (p.Leu132Phe) n.465C>T | |
| 5 | g.78969111G>C | CA360194230 | ARSB | c.394C>G (p.Leu132Val) n.465C>G | |
| 5 | g.78969111G>T | CA360194232 | ARSB | c.394C>A (p.Leu132Ile) n.465C>A | |
| 5 | g.78969112C>A | CA3318278 | ARSB | c.393G>T (p.Gln131His) n.464G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969112C= | CA1557703787 | ARSB | c.393G= (p.Gln131=) n.464G= | |
| 5 | g.78969112C>G | CA360194236 | ARSB | c.393G>C (p.Gln131His) n.464G>C | gnomAD v4 |
| 5 | g.78969112C>T | CA445103526 | ARSB | c.393G>A (p.Gln131=) n.464G>A | |
| 5 | g.78969113T>A | CA3318279 | ARSB | c.392A>T (p.Gln131Leu) n.463A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969113T>C | CA360194240 | ARSB | c.392A>G (p.Gln131Arg) n.463A>G | |
| 5 | g.78969113T>G | CA360194242 | ARSB | c.392A>C (p.Gln131Pro) n.463A>C | |
| 5 | g.78969113T= | CA1557703788 | ARSB | c.392A= (p.Gln131=) n.463A= | |
| 5 | g.78969114G>A | CA360194245 | ARSB | c.391C>T (p.Gln131Ter) n.462C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969114G>C | CA360194251 | ARSB | c.391C>G (p.Gln131Glu) n.462C>G | |
| 5 | g.78969114G= | CA1557703789 | ARSB | c.391C= (p.Gln131=) n.462C= | |
| 5 | g.78969114G>T | CA360194253 | ARSB | c.391C>A (p.Gln131Lys) n.462C>A | |
| 5 | g.78969115G>A | CA445103530 | ARSB | c.390C>T (p.Pro130=) n.461C>T | gnomAD v4 |
| 5 | g.78969115G>C | CA445103531 | ARSB | c.390C>G (p.Pro130=) n.461C>G | ClinVar |
| 5 | g.78969115G>T | CA445103532 | ARSB | c.390C>A (p.Pro130=) n.461C>A | |
| 5 | g.78969116G>A | CA360194254 | ARSB | c.389C>T (p.Pro130Leu) n.460C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969116G>C | CA360194256 | ARSB | c.389C>G (p.Pro130Arg) n.460C>G | |
| 5 | g.78969116G= | CA1557703790 | ARSB | c.389C= (p.Pro130=) n.460C= | |
| 5 | g.78969116G>T | CA360194255 | ARSB | c.389C>A (p.Pro130His) n.460C>A | |
| 5 | g.78969117G>A | CA3318280 | ARSB | c.388C>T (p.Pro130Ser) n.459C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969117G>C | CA360194257 | ARSB | c.388C>G (p.Pro130Ala) n.459C>G | |
| 5 | g.78969117G= | CA1557703791 | ARSB | c.388C= (p.Pro130=) n.459C= | |
| 5 | g.78969117G>T | CA360194258 | ARSB | c.388C>A (p.Pro130Thr) n.459C>A | dbSNP |
| 5 | g.78969118C>A | CA445103536 | ARSB | c.387G>T (p.Leu129=) n.458G>T | |
| 5 | g.78969118C= | CA1557703793 | ARSB | c.387G= (p.Leu129=) n.458G= | |
| 5 | g.78969118C>G | CA445103537 | ARSB | c.387G>C (p.Leu129=) n.458G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969118C>T | CA445103538 | ARSB | c.387G>A (p.Leu129=) n.458G>A | ClinVar dbSNP |
| 5 | g.78969118_78969121delinsCAGG | CA1557703792 | ARSB | c.384_387delinsCCTG (p.Leu128=) n.455_458delinsCCTG | |
| 5 | g.78969119A= | CA1557703795 | ARSB | c.386T= (p.Leu129=) n.457T= | |
| 5 | g.78969119A>C | CA360194259 | ARSB | c.386T>G (p.Leu129Arg) n.457T>G | |
| 5 | g.78969119A>G | CA360194260 | ARSB | c.386T>C (p.Leu129Pro) n.457T>C | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969119A>T | CA360194261 | ARSB | c.386T>A (p.Leu129Gln) n.457T>A | |
| 5 | g.78969119_78969120delinsAG | CA1557703794 | ARSB | c.385_386delinsCT (p.Leu129=) n.456_457delinsCT | |
| 5 | g.78969121_78969123del | CA658822933 | ARSB | c.384_386del (p.Leu129del) n.455_457del | ClinVar dbSNP |
| 5 | g.78969120G>A | CA445103540 | ARSB | c.385C>T (p.Leu129=) n.456C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969120G>C | CA360194263 | ARSB | c.385C>G (p.Leu129Val) n.456C>G | dbSNP |
| 5 | g.78969120G= | CA1557703796 | ARSB | c.385C= (p.Leu129=) n.456C= | |
| 5 | g.78969120G>T | CA360194264 | ARSB | c.385C>A (p.Leu129Met) n.456C>A | |
| 5 | g.78969121del | CA1139658905 | ARSB | c.385del (p.Leu129CysfsTer5) n.456del | ClinVar dbSNP |
| 5 | g.78969121G>A | CA445103542 | ARSB | c.384C>T (p.Leu128=) n.455C>T | |
| 5 | g.78969121G>C | CA3318281 | ARSB | c.384C>G (p.Leu128=) n.455C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969121G= | CA1557703797 | ARSB | c.384C= (p.Leu128=) n.455C= | |
| 5 | g.78969121G>T | CA445103545 | ARSB | c.384C>A (p.Leu128=) n.455C>A | |
| 5 | g.78969122A>C | CA360194266 | ARSB | c.383T>G (p.Leu128Arg) n.454T>G | |
| 5 | g.78969122A>G | CA360194268 | ARSB | c.383T>C (p.Leu128Pro) n.454T>C | |
| 5 | g.78969122A>T | CA360194269 | ARSB | c.383T>A (p.Leu128His) n.454T>A | |
| 5 | g.78969123G>A | CA3318282 | ARSB | c.382C>T (p.Leu128Phe) n.453C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969123G>C | CA360194275 | ARSB | c.382C>G (p.Leu128Val) n.453C>G | |
| 5 | g.78969123G= | CA1557703798 | ARSB | c.382C= (p.Leu128=) n.453C= | |
| 5 | g.78969123G>T | CA360194273 | ARSB | c.382C>A (p.Leu128Ile) n.453C>A | |
| 5 | g.78969124T>A | CA360194277 | ARSB | c.381A>T (p.Lys127Asn) n.452A>T | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969124T>C | CA445103548 | ARSB | c.381A>G (p.Lys127=) n.452A>G | |
| 5 | g.78969124T>G | CA360194279 | ARSB | c.381A>C (p.Lys127Asn) n.452A>C | dbSNP |
| 5 | g.78969124T= | CA1557703799 | ARSB | c.381A= (p.Lys127=) n.452A= | |
| 5 | g.78969125T>A | CA360194282 | ARSB | c.380A>T (p.Lys127Ile) n.451A>T | |
| 5 | g.78969125T>C | CA360194287 | ARSB | c.380A>G (p.Lys127Arg) n.451A>G | |
| 5 | g.78969125T>G | CA360194289 | ARSB | c.380A>C (p.Lys127Thr) n.451A>C | |
| 5 | g.78969126T>A | CA360194292 | ARSB | c.379A>T (p.Lys127Ter) n.450A>T | |
| 5 | g.78969126T>C | CA360194293 | ARSB | c.379A>G (p.Lys127Glu) n.450A>G | |
| 5 | g.78969126T>G | CA360194294 | ARSB | c.379A>C (p.Lys127Gln) n.450A>C | |
| 5 | g.78969127T>A | CA360194297 | ARSB | c.378A>T (p.Glu126Asp) n.449A>T | |
| 5 | g.78969127T>C | CA445103555 | ARSB | c.378A>G (p.Glu126=) n.449A>G | |
| 5 | g.78969127T>G | CA360194298 | ARSB | c.378A>C (p.Glu126Asp) n.449A>C | |
| 5 | g.78969128T>A | CA360194302 | ARSB | c.377A>T (p.Glu126Val) n.448A>T | gnomAD v4 |
| 5 | g.78969128T>C | CA360194305 | ARSB | c.377A>G (p.Glu126Gly) n.448A>G | |
| 5 | g.78969128T>G | CA360194301 | ARSB | c.377A>C (p.Glu126Ala) n.448A>C | |
| 5 | g.78969129C>A | CA360194308 | ARSB | c.376G>T (p.Glu126Ter) n.447G>T | ClinVar |
| 5 | g.78969129C= | CA1557703800 | ARSB | c.376G= (p.Glu126=) n.447G= | |
| 5 | g.78969129C>G | CA360194309 | ARSB | c.376G>C (p.Glu126Gln) n.447G>C | |
| 5 | g.78969129C>T | CA360194312 | ARSB | c.376G>A (p.Glu126Lys) n.447G>A | |
| 5 | g.78969130A>C | CA360194314 | ARSB | c.375T>G (p.Asp125Glu) n.446T>G | |
| 5 | g.78969130A>G | CA445103561 | ARSB | c.375T>C (p.Asp125=) n.446T>C | |
| 5 | g.78969130A>T | CA360194315 | ARSB | c.375T>A (p.Asp125Glu) n.446T>A | |
| 5 | g.78969130dup | CA658822934 | ARSB | c.375dup (p.Glu126Ter) n.446dup | ClinVar dbSNP |
| 5 | g.78969131T>A | CA360194318 | ARSB | c.374A>T (p.Asp125Val) n.445A>T | |
| 5 | g.78969131T>C | CA3318283 | ARSB | c.374A>G (p.Asp125Gly) n.445A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969131T>G | CA360194321 | ARSB | c.374A>C (p.Asp125Ala) n.445A>C | |
| 5 | g.78969131T= | CA1557703801 | ARSB | c.374A= (p.Asp125=) n.445A= | |
| 5 | g.78969132C>A | CA360194323 | ARSB | c.373G>T (p.Asp125Tyr) n.444G>T | |
| 5 | g.78969132C>G | CA360194324 | ARSB | c.373G>C (p.Asp125His) n.444G>C | |
| 5 | g.78969132C>T | CA360194327 | ARSB | c.373G>A (p.Asp125Asn) n.444G>A | |
| 5 | g.78969133C>A | CA445103570 | ARSB | c.372G>T (p.Leu124=) n.443G>T | dbSNP |
| 5 | g.78969133C>G | CA445103572 | ARSB | c.372G>C (p.Leu124=) n.443G>C | |
| 5 | g.78969133C>T | CA445103575 | ARSB | c.372G>A (p.Leu124=) n.443G>A | |
| 5 | g.78969134A>C | CA360194328 | ARSB | c.371T>G (p.Leu124Arg) n.442T>G | |
| 5 | g.78969134A>G | CA360194330 | ARSB | c.371T>C (p.Leu124Pro) n.442T>C | gnomAD v4 |
| 5 | g.78969134A>T | CA360194332 | ARSB | c.371T>A (p.Leu124Gln) n.442T>A | |
| 5 | g.78969135G>A | CA445103579 | ARSB | c.370C>T (p.Leu124=) n.441C>T | ClinVar gnomAD v4 |
| 5 | g.78969135G>C | CA360194336 | ARSB | c.370C>G (p.Leu124Val) n.441C>G | gnomAD v4 |
| 5 | g.78969135G>T | CA360194335 | ARSB | c.370C>A (p.Leu124Met) n.441C>A | |
| 5 | g.78969136A>C | CA445103584 | ARSB | c.369T>G (p.Pro123=) n.440T>G | |
| 5 | g.78969136A>G | CA445103585 | ARSB | c.369T>C (p.Pro123=) n.440T>C | |
| 5 | g.78969136A>T | CA445103586 | ARSB | c.369T>A (p.Pro123=) n.440T>A | |
| 5 | g.78969137G>A | CA360194339 | ARSB | c.368C>T (p.Pro123Leu) n.439C>T | |
| 5 | g.78969137G>C | CA360194340 | ARSB | c.368C>G (p.Pro123Arg) n.439C>G | |
| 5 | g.78969137G>T | CA360194342 | ARSB | c.368C>A (p.Pro123His) n.439C>A | |
| 5 | g.78969138G>A | CA360194343 | ARSB | c.367C>T (p.Pro123Ser) n.438C>T | gnomAD v4 |
| 5 | g.78969138G>C | CA360194344 | ARSB | c.367C>G (p.Pro123Ala) n.438C>G | |
| 5 | g.78969138G>T | CA360194345 | ARSB | c.367C>A (p.Pro123Thr) n.438C>A | |
| 5 | g.78969139A>C | CA445103592 | ARSB | c.366T>G (p.Val122=) n.437T>G | |
| 5 | g.78969139A>G | CA445103595 | ARSB | c.366T>C (p.Val122=) n.437T>C | gnomAD v4 |
| 5 | g.78969139A>T | CA445103590 | ARSB | c.366T>A (p.Val122=) n.437T>A | |
| 5 | g.78969140A>C | CA360194350 | ARSB | c.365T>G (p.Val122Gly) n.436T>G | |
| 5 | g.78969140A>G | CA360194346 | ARSB | c.365T>C (p.Val122Ala) n.436T>C | |
| 5 | g.78969140A>T | CA360194347 | ARSB | c.365T>A (p.Val122Asp) n.436T>A | |
| 5 | g.78969143_78969156dup | CA2582341584 | ARSB | c.352_365dup (p.Pro123SerfsTer16) n.423_436dup | ClinVar gnomAD v4 |
| 5 | g.78969141C>A | CA360194352 | ARSB | c.364G>T (p.Val122Phe) n.435G>T | |
| 5 | g.78969141C>G | CA360194353 | ARSB | c.364G>C (p.Val122Leu) n.435G>C | |
| 5 | g.78969141C>T | CA360194354 | ARSB | c.364G>A (p.Val122Ile) n.435G>A | |
| 5 | g.78969142A>C | CA360194356 | ARSB | c.363T>G (p.Cys121Trp) n.434T>G | |
| 5 | g.78969142A>G | CA445103598 | ARSB | c.363T>C (p.Cys121=) n.434T>C | ClinVar dbSNP |
| 5 | g.78969142A>T | CA360194358 | ARSB | c.363T>A (p.Cys121Ter) n.434T>A | |
| 5 | g.78969143C>A | CA360194360 | ARSB | c.362G>T (p.Cys121Phe) n.433G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.78969143C= | CA1557703802 | ARSB | c.362G= (p.Cys121=) n.433G= | |
| 5 | g.78969143C>G | CA360194364 | ARSB | c.362G>C (p.Cys121Ser) n.433G>C | |
| 5 | g.78969143C>T | CA360194362 | ARSB | c.362G>A (p.Cys121Tyr) n.433G>A | gnomAD v4 |
| 5 | g.78969144A= | CA1557703803 | ARSB | c.361T= (p.Cys121=) n.432T= | |
| 5 | g.78969144A>C | CA360194366 | ARSB | c.361T>G (p.Cys121Gly) n.432T>G | |
| 5 | g.78969144A>G | CA360194367 | ARSB | c.361T>C (p.Cys121Arg) n.432T>C | ClinVar dbSNP |
| 5 | g.78969144A>T | CA360194369 | ARSB | c.361T>A (p.Cys121Ser) n.432T>A | |
| 5 | g.78969145G>A | CA445103606 | ARSB | c.360C>T (p.Ser120=) n.431C>T | |
| 5 | g.78969145G>C | CA360194371 | ARSB | c.360C>G (p.Ser120Arg) n.431C>G | |
| 5 | g.78969145G= | CA1557703804 | ARSB | c.360C= (p.Ser120=) n.431C= | |
| 5 | g.78969145G>T | CA360194373 | ARSB | c.360C>A (p.Ser120Arg) n.431C>A | |
| 5 | g.78969146C>A | CA360194376 | ARSB | c.359G>T (p.Ser120Ile) n.430G>T | |
| 5 | g.78969146C>G | CA360194375 | ARSB | c.359G>C (p.Ser120Thr) n.430G>C | |
| 5 | g.78969146C>T | CA360194374 | ARSB | c.359G>A (p.Ser120Asn) n.430G>A | |
| 5 | g.78969146dup | CA560767969 | ARSB | c.359dup (p.Ser120ArgfsTer7) n.430dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969146_78969149delinsCTGG | CA1557703805 | ARSB | c.356_359delinsCCAG (p.Pro119=) n.427_430delinsCCAG | |
| 5 | g.78969147T>A | CA360194378 | ARSB | c.358A>T (p.Ser120Cys) n.429A>T | |
| 5 | g.78969147T>C | CA3318284 | ARSB | c.358A>G (p.Ser120Gly) n.429A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969147T>G | CA360194380 | ARSB | c.358A>C (p.Ser120Arg) n.429A>C | |
| 5 | g.78969147T= | CA1557703806 | ARSB | c.358A= (p.Ser120=) n.429A= | |
| 5 | g.78969147_78969149del | CA658822935 | ARSB | c.356_358del (p.Pro119_Ser120delinsArg) n.427_429del | ClinVar dbSNP |
| 5 | g.78969148G>A | CA121108012 | ARSB | c.357C>T (p.Pro119=) n.428C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.78969148G>C | CA445103611 | ARSB | c.357C>G (p.Pro119=) n.428C>G | |
| 5 | g.78969148G= | CA1557703807 | ARSB | c.357C= (p.Pro119=) n.428C= | |
| 5 | g.78969148G>T | CA445103612 | ARSB | c.357C>A (p.Pro119=) n.428C>A | |
| 5 | g.78969149G>A | CA360194381 | ARSB | c.356C>T (p.Pro119Leu) n.427C>T | |
| 5 | g.78969149G>C | CA360194382 | ARSB | c.356C>G (p.Pro119Arg) n.427C>G | |
| 5 | g.78969149G>T | CA360194383 | ARSB | c.356C>A (p.Pro119His) n.427C>A | |
| 5 | g.78969150G>A | CA360194385 | ARSB | c.355C>T (p.Pro119Ser) n.426C>T | COSMIC COSMIC |
| 5 | g.78969150G>C | CA360194388 | ARSB | c.355C>G (p.Pro119Ala) n.426C>G | dbSNP |
| 5 | g.78969150G= | CA1557703808 | ARSB | c.355C= (p.Pro119=) n.426C= | |
| 5 | g.78969150G>T | CA360194386 | ARSB | c.355C>A (p.Pro119Thr) n.426C>A | |
| 5 | g.78969151C>A | CA360194390 | ARSB | c.354G>T (p.Gln118His) n.425G>T | |
| 5 | g.78969151C>G | CA360194391 | ARSB | c.354G>C (p.Gln118His) n.425G>C | |
| 5 | g.78969151C>T | CA445103619 | ARSB | c.354G>A (p.Gln118=) n.425G>A | ClinVar gnomAD v4 |
| 5 | g.78969152T>A | CA360194393 | ARSB | c.353A>T (p.Gln118Leu) n.424A>T | |
| 5 | g.78969152T>C | CA360194394 | ARSB | c.353A>G (p.Gln118Arg) n.424A>G | |
| 5 | g.78969152T>G | CA360194396 | ARSB | c.353A>C (p.Gln118Pro) n.424A>C | |
| 5 | g.78969153G>A | CA360194398 | ARSB | c.352C>T (p.Gln118Ter) n.423C>T | |
| 5 | g.78969153G>C | CA360194399 | ARSB | c.352C>G (p.Gln118Glu) n.423C>G | |
| 5 | g.78969153G>T | CA360194400 | ARSB | c.352C>A (p.Gln118Lys) n.423C>A | gnomAD v4 |
| 5 | g.78969154A>C | CA360194402 | ARSB | c.351T>G (p.Cys117Trp) n.422T>G | |
| 5 | g.78969154A>G | CA445103621 | ARSB | c.351T>C (p.Cys117=) n.422T>C | ClinVar dbSNP |
| 5 | g.78969154A>T | CA360194404 | ARSB | c.351T>A (p.Cys117Ter) n.422T>A | |
| 5 | g.78969155C>A | CA360194408 | ARSB | c.350G>T (p.Cys117Phe) n.421G>T | |
| 5 | g.78969155C>G | CA360194407 | ARSB | c.350G>C (p.Cys117Ser) n.421G>C | |
| 5 | g.78969155C>T | CA360194406 | ARSB | c.350G>A (p.Cys117Tyr) n.421G>A | ClinVar |
| 5 | g.78969156A= | CA1557703809 | ARSB | c.349T= (p.Cys117=) n.420T= | |
| 5 | g.78969156A>C | CA360194409 | ARSB | c.349T>G (p.Cys117Gly) n.420T>G | |
| 5 | g.78969156A>G | CA114601 | ARSB | c.349T>C (p.Cys117Arg) n.420T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.78969156A>T | CA360194411 | ARSB | c.349T>A (p.Cys117Ser) n.420T>A | |
| 5 | g.78969157G>A | CA3318285 | ARSB | c.348C>T (p.Pro116=) n.419C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969157G>C | CA445103623 | ARSB | c.348C>G (p.Pro116=) n.419C>G | |
| 5 | g.78969157G= | CA1557703810 | ARSB | c.348C= (p.Pro116=) n.419C= | |
| 5 | g.78969157G>T | CA445103625 | ARSB | c.348C>A (p.Pro116=) n.419C>A | |
| 5 | g.78969159del | CA2674368718 | ARSB | c.348del (p.Cys117ValfsTer17) n.419del | gnomAD v4 |
| 5 | g.78969158G>A | CA360194416 | ARSB | c.347C>T (p.Pro116Leu) n.418C>T | gnomAD v4 |
| 5 | g.78969158G>C | CA360194414 | ARSB | c.347C>G (p.Pro116Arg) n.418C>G | |
| 5 | g.78969158G= | CA1557703811 | ARSB | c.347C= (p.Pro116=) n.418C= | |
| 5 | g.78969158G>T | CA3318286 | ARSB | c.347C>A (p.Pro116His) n.418C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969159G>A | CA360194418 | ARSB | c.346C>T (p.Pro116Ser) n.417C>T | gnomAD v4 |
| 5 | g.78969159G>C | CA360194419 | ARSB | c.346C>G (p.Pro116Ala) n.417C>G | |
| 5 | g.78969159G>T | CA360194421 | ARSB | c.346C>A (p.Pro116Thr) n.417C>A | |
| 5 | g.78969160C>A | CA360194422 | ARSB | c.345G>T (p.Trp115Cys) n.416G>T | |
| 5 | g.78969160C>G | CA360194424 | ARSB | c.345G>C (p.Trp115Cys) n.416G>C | |
| 5 | g.78969160C>T | CA360194425 | ARSB | c.345G>A (p.Trp115Ter) n.416G>A | ClinVar dbSNP |
| 5 | g.78969161C>A | CA360194426 | ARSB | c.344G>T (p.Trp115Leu) n.415G>T | |
| 5 | g.78969161C>G | CA360194427 | ARSB | c.344G>C (p.Trp115Ser) n.415G>C | |
| 5 | g.78969161C>T | CA360194428 | ARSB | c.344G>A (p.Trp115Ter) n.415G>A | |
| 5 | g.78969162A>C | CA360194430 | ARSB | c.343T>G (p.Trp115Gly) n.414T>G | |
| 5 | g.78969162A>G | CA360194432 | ARSB | c.343T>C (p.Trp115Arg) n.414T>C | |
| 5 | g.78969162A>T | CA360194433 | ARSB | c.343T>A (p.Trp115Arg) n.414T>A | |
| 5 | g.78969163G>A | CA445103635 | ARSB | c.342C>T (p.Ile114=) n.413C>T | |
| 5 | g.78969163G>C | CA360194435 | ARSB | c.342C>G (p.Ile114Met) n.413C>G | |
| 5 | g.78969163G>T | CA445103630 | ARSB | c.342C>A (p.Ile114=) n.413C>A | |
| 5 | g.78969164A>C | CA360194436 | ARSB | c.341T>G (p.Ile114Ser) n.412T>G | |
| 5 | g.78969164A>G | CA360194440 | ARSB | c.341T>C (p.Ile114Thr) n.412T>C | |
| 5 | g.78969164A>T | CA360194438 | ARSB | c.341T>A (p.Ile114Asn) n.412T>A | |
| 5 | g.78969165T>A | CA360194442 | ARSB | c.340A>T (p.Ile114Phe) n.411A>T | |
| 5 | g.78969165T>C | CA360194443 | ARSB | c.340A>G (p.Ile114Val) n.411A>G | |
| 5 | g.78969165T>G | CA360194445 | ARSB | c.340A>C (p.Ile114Leu) n.411A>C | |
| 5 | g.78969166T>A | CA3318287 | ARSB | c.339A>T (p.Ile113=) n.410A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.78969166T>C | CA360194447 | ARSB | c.339A>G (p.Ile113Met) n.410A>G | |
| 5 | g.78969166T>G | CA445103638 | ARSB | c.339A>C (p.Ile113=) n.410A>C | ClinVar |
| 5 | g.78969166T= | CA1557703812 | ARSB | c.339A= (p.Ile113=) n.410A= | |
| 5 | g.78969167A>C | CA360194449 | ARSB | c.338T>G (p.Ile113Arg) n.409T>G | |
| 5 | g.78969167A>G | CA360194451 | ARSB | c.338T>C (p.Ile113Thr) n.409T>C | |
| 5 | g.78969167A>T | CA360194452 | ARSB | c.338T>A (p.Ile113Lys) n.409T>A |