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 |
|---|---|---|---|---|---|
| 22 | g.50625192A= | CA2410958355 | ARSA | c.1483T= (p.Cys495=) c.1225T= (p.Cys409=) c.180+171T= c.*216T= (n.*216T=) c.1597T= (p.Cys533=) | |
| 22 | g.50625192A>C | CA412166975 | ARSA | c.1483T>G (p.Cys495Gly) c.1225T>G (p.Cys409Gly) c.180+171T>G c.*216T>G (n.*216T>G) c.1597T>G (p.Cys533Gly) | ClinVar |
| 22 | g.50625192A>G | CA412166968 | ARSA | c.1483T>C (p.Cys495Arg) c.1225T>C (p.Cys409Arg) c.180+171T>C c.*216T>C (n.*216T>C) c.1597T>C (p.Cys533Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625192A>T | CA412166964 | ARSA | c.1483T>A (p.Cys495Ser) c.1225T>A (p.Cys409Ser) c.180+171T>A c.*216T>A (n.*216T>A) c.1597T>A (p.Cys533Ser) | |
| 22 | g.50625193G>A | CA515390885 | ARSA | c.1482C>T (p.Gly494=) c.1224C>T (p.Gly408=) c.180+170C>T c.*215C>T (n.*215C>T) c.1596C>T (p.Gly532=) | gnomAD v4 |
| 22 | g.50625193G>C | CA515390887 | ARSA | c.1482C>G (p.Gly494=) c.1224C>G (p.Gly408=) c.180+170C>G c.*215C>G (n.*215C>G) c.1596C>G (p.Gly532=) | |
| 22 | g.50625193G>T | CA515390888 | ARSA | c.1482C>A (p.Gly494=) c.1224C>A (p.Gly408=) c.180+170C>A c.*215C>A (n.*215C>A) c.1596C>A (p.Gly532=) | gnomAD v4 |
| 22 | g.50625194C>A | CA412166980 | ARSA | c.1481G>T (p.Gly494Val) c.1223G>T (p.Gly408Val) c.180+169G>T c.*214G>T (n.*214G>T) c.1595G>T (p.Gly532Val) | gnomAD v4 |
| 22 | g.50625194C>G | CA412166982 | ARSA | c.1481G>C (p.Gly494Ala) c.1223G>C (p.Gly408Ala) c.180+169G>C c.*214G>C (n.*214G>C) c.1595G>C (p.Gly532Ala) | |
| 22 | g.50625194C>T | CA412166997 | ARSA | c.1481G>A (p.Gly494Asp) c.1223G>A (p.Gly408Asp) c.180+169G>A c.*214G>A (n.*214G>A) c.1595G>A (p.Gly532Asp) | |
| 22 | g.50625195C>A | CA412167002 | ARSA | c.1480G>T (p.Gly494Cys) c.1222G>T (p.Gly408Cys) c.180+168G>T c.*213G>T (n.*213G>T) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
| 22 | g.50625195C= | CA2410958356 | ARSA | c.1480G= (p.Gly494=) c.1222G= (p.Gly408=) c.180+168G= c.*213G= (n.*213G=) c.1594G= (p.Gly532=) | |
| 22 | g.50625195C>G | CA412167005 | ARSA | c.1480G>C (p.Gly494Arg) c.1222G>C (p.Gly408Arg) c.180+168G>C c.*213G>C (n.*213G>C) c.1594G>C (p.Gly532Arg) | |
| 22 | g.50625195C>T | CA325531161 | ARSA | c.1480G>A (p.Gly494Ser) c.1222G>A (p.Gly408Ser) c.180+168G>A c.*213G>A (n.*213G>A) c.1594G>A (p.Gly532Ser) | ClinVar dbSNP |
| 22 | g.50625196A>C | CA515390892 | ARSA | c.1479T>G (p.Pro493=) c.1221T>G (p.Pro407=) c.180+167T>G c.*212T>G (n.*212T>G) c.1593T>G (p.Pro531=) | |
| 22 | g.50625196A>G | CA515390893 | ARSA | c.1479T>C (p.Pro493=) c.1221T>C (p.Pro407=) c.180+167T>C c.*212T>C (n.*212T>C) c.1593T>C (p.Pro531=) | gnomAD v4 |
| 22 | g.50625196A>T | CA515390895 | ARSA | c.1479T>A (p.Pro493=) c.1221T>A (p.Pro407=) c.180+167T>A c.*212T>A (n.*212T>A) c.1593T>A (p.Pro531=) | |
| 22 | g.50625197G>A | CA412167013 | ARSA | c.1478C>T (p.Pro493Leu) c.1220C>T (p.Pro407Leu) c.180+166C>T c.*211C>T (n.*211C>T) c.1592C>T (p.Pro531Leu) | gnomAD v4 |
| 22 | g.50625197G>C | CA412167018 | ARSA | c.1478C>G (p.Pro493Arg) c.1220C>G (p.Pro407Arg) c.180+166C>G c.*211C>G (n.*211C>G) c.1592C>G (p.Pro531Arg) | gnomAD v4 |
| 22 | g.50625197G>T | CA412167024 | ARSA | c.1478C>A (p.Pro493His) c.1220C>A (p.Pro407His) c.180+166C>A c.*211C>A (n.*211C>A) c.1592C>A (p.Pro531His) | gnomAD v4 |
| 22 | g.50625198G>A | CA412167031 | ARSA | c.1477C>T (p.Pro493Ser) c.1219C>T (p.Pro407Ser) c.180+165C>T c.*210C>T (n.*210C>T) c.1591C>T (p.Pro531Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625198G>C | CA412167034 | ARSA | c.1477C>G (p.Pro493Ala) c.1219C>G (p.Pro407Ala) c.180+165C>G c.*210C>G (n.*210C>G) c.1591C>G (p.Pro531Ala) | |
| 22 | g.50625198G= | CA2410958357 | ARSA | c.1477C= (p.Pro493=) c.1219C= (p.Pro407=) c.180+165C= c.*210C= (n.*210C=) c.1591C= (p.Pro531=) | |
| 22 | g.50625198G>T | CA412167036 | ARSA | c.1477C>A (p.Pro493Thr) c.1219C>A (p.Pro407Thr) c.180+165C>A c.*210C>A (n.*210C>A) c.1591C>A (p.Pro531Thr) | |
| 22 | g.50625199A>C | CA412167041 | ARSA | c.1476T>G (p.His492Gln) c.1218T>G (p.His406Gln) c.180+164T>G c.*209T>G (n.*209T>G) c.1590T>G (p.His530Gln) | |
| 22 | g.50625199A>G | CA515390900 | ARSA | c.1476T>C (p.His492=) c.1218T>C (p.His406=) c.180+164T>C c.*209T>C (n.*209T>C) c.1590T>C (p.His530=) | |
| 22 | g.50625199A>T | CA412167040 | ARSA | c.1476T>A (p.His492Gln) c.1218T>A (p.His406Gln) c.180+164T>A c.*209T>A (n.*209T>A) c.1590T>A (p.His530Gln) | |
| 22 | g.50625200T>A | CA412167045 | ARSA | c.1475A>T (p.His492Leu) c.1217A>T (p.His406Leu) c.180+163A>T c.*208A>T (n.*208A>T) c.1589A>T (p.His530Leu) | gnomAD v4 |
| 22 | g.50625200T>C | CA412167064 | ARSA | c.1475A>G (p.His492Arg) c.1217A>G (p.His406Arg) c.180+163A>G c.*208A>G (n.*208A>G) c.1589A>G (p.His530Arg) | |
| 22 | g.50625200T>G | CA412167067 | ARSA | c.1475A>C (p.His492Pro) c.1217A>C (p.His406Pro) c.180+163A>C c.*208A>C (n.*208A>C) c.1589A>C (p.His530Pro) | |
| 22 | g.50625201G>A | CA412167072 | ARSA | c.1474C>T (p.His492Tyr) c.1216C>T (p.His406Tyr) c.180+162C>T c.*207C>T (n.*207C>T) c.1588C>T (p.His530Tyr) | |
| 22 | g.50625201G>C | CA412167076 | ARSA | c.1474C>G (p.His492Asp) c.1216C>G (p.His406Asp) c.180+162C>G c.*207C>G (n.*207C>G) c.1588C>G (p.His530Asp) | |
| 22 | g.50625201G>T | CA412167080 | ARSA | c.1474C>A (p.His492Asn) c.1216C>A (p.His406Asn) c.180+162C>A c.*207C>A (n.*207C>A) c.1588C>A (p.His530Asn) | |
| 22 | g.50625202A= | CA2410958358 | ARSA | c.1473T= (p.Cys491=) c.1215T= (p.Cys405=) c.180+161T= c.*206T= (n.*206T=) c.1587T= (p.Cys529=) | |
| 22 | g.50625202A>C | CA412167088 | ARSA | c.1473T>G (p.Cys491Trp) c.1215T>G (p.Cys405Trp) c.180+161T>G c.*206T>G (n.*206T>G) c.1587T>G (p.Cys529Trp) | |
| 22 | g.50625202A>G | CA10324721 | ARSA | c.1473T>C (p.Cys491=) c.1215T>C (p.Cys405=) c.180+161T>C c.*206T>C (n.*206T>C) c.1587T>C (p.Cys529=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625202A>T | CA412167094 | ARSA | c.1473T>A (p.Cys491Ter) c.1215T>A (p.Cys405Ter) c.180+161T>A c.*206T>A (n.*206T>A) c.1587T>A (p.Cys529Ter) | |
| 22 | g.50625203C>A | CA412167104 | ARSA | c.1472G>T (p.Cys491Phe) c.1214G>T (p.Cys405Phe) c.180+160G>T c.*205G>T (n.*205G>T) c.1586G>T (p.Cys529Phe) | gnomAD v4 |
| 22 | g.50625203C= | CA2410958359 | ARSA | c.1472G= (p.Cys491=) c.1214G= (p.Cys405=) c.180+160G= c.*205G= (n.*205G=) c.1586G= (p.Cys529=) | |
| 22 | g.50625203C>G | CA412167109 | ARSA | c.1472G>C (p.Cys491Ser) c.1214G>C (p.Cys405Ser) c.180+160G>C c.*205G>C (n.*205G>C) c.1586G>C (p.Cys529Ser) | |
| 22 | g.50625203C>T | CA16616942 | ARSA | c.1472G>A (p.Cys491Tyr) c.1214G>A (p.Cys405Tyr) c.180+160G>A c.*205G>A (n.*205G>A) c.1586G>A (p.Cys529Tyr) | ClinVar dbSNP |
| 22 | g.50625204A= | CA2410958360 | ARSA | c.1471T= (p.Cys491=) c.1213T= (p.Cys405=) c.180+159T= c.*204T= (n.*204T=) c.1585T= (p.Cys529=) | |
| 22 | g.50625204A>C | CA219000 | ARSA | c.1471T>G (p.Cys491Gly) c.1213T>G (p.Cys405Gly) c.180+159T>G c.*204T>G (n.*204T>G) c.1585T>G (p.Cys529Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625204A>G | CA233473 | ARSA | c.1471T>C (p.Cys491Arg) c.1213T>C (p.Cys405Arg) c.180+159T>C c.*204T>C (n.*204T>C) c.1585T>C (p.Cys529Arg) | ClinVar dbSNP |
| 22 | g.50625204A>T | CA412167118 | ARSA | c.1471T>A (p.Cys491Ser) c.1213T>A (p.Cys405Ser) c.180+159T>A c.*204T>A (n.*204T>A) c.1585T>A (p.Cys529Ser) | |
| 22 | g.50625205G>A | CA325531168 | ARSA | c.1470C>T (p.Cys490=) c.1212C>T (p.Cys404=) c.180+158C>T c.*203C>T (n.*203C>T) c.1584C>T (p.Cys528=) | dbSNP gnomAD v4 |
| 22 | g.50625205G>C | CA412167132 | ARSA | c.1470C>G (p.Cys490Trp) c.1212C>G (p.Cys404Trp) c.180+158C>G c.*203C>G (n.*203C>G) c.1584C>G (p.Cys528Trp) | |
| 22 | g.50625205G= | CA2410958361 | ARSA | c.1470C= (p.Cys490=) c.1212C= (p.Cys404=) c.180+158C= c.*203C= (n.*203C=) c.1584C= (p.Cys528=) | |
| 22 | g.50625205G>T | CA412167135 | ARSA | c.1470C>A (p.Cys490Ter) c.1212C>A (p.Cys404Ter) c.180+158C>A c.*203C>A (n.*203C>A) c.1584C>A (p.Cys528Ter) | |
| 22 | g.50625206C>A | CA412167140 | ARSA | c.1469G>T (p.Cys490Phe) c.1211G>T (p.Cys404Phe) c.180+157G>T c.*202G>T (n.*202G>T) c.1583G>T (p.Cys528Phe) | |
| 22 | g.50625206C>G | CA412167143 | ARSA | c.1469G>C (p.Cys490Ser) c.1211G>C (p.Cys404Ser) c.180+157G>C c.*202G>C (n.*202G>C) c.1583G>C (p.Cys528Ser) | |
| 22 | g.50625206C>T | CA412167145 | ARSA | c.1469G>A (p.Cys490Tyr) c.1211G>A (p.Cys404Tyr) c.180+157G>A c.*202G>A (n.*202G>A) c.1583G>A (p.Cys528Tyr) | gnomAD v4 |
| 22 | g.50625207A= | CA2410958362 | ARSA | c.1468T= (p.Cys490=) c.1210T= (p.Cys404=) c.180+156T= c.*201T= (n.*201T=) c.1582T= (p.Cys528=) | |
| 22 | g.50625207A>C | CA412167150 | ARSA | c.1468T>G (p.Cys490Gly) c.1210T>G (p.Cys404Gly) c.180+156T>G c.*201T>G (n.*201T>G) c.1582T>G (p.Cys528Gly) | |
| 22 | g.50625207A>G | CA10324722 | ARSA | c.1468T>C (p.Cys490Arg) c.1210T>C (p.Cys404Arg) c.180+156T>C c.*201T>C (n.*201T>C) c.1582T>C (p.Cys528Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625207A>T | CA412167153 | ARSA | c.1468T>A (p.Cys490Ser) c.1210T>A (p.Cys404Ser) c.180+156T>A c.*201T>A (n.*201T>A) c.1582T>A (p.Cys528Ser) | |
| 22 | g.50625208G>A | CA515390926 | ARSA | c.1467C>T (p.Ile489=) c.1209C>T (p.Ile403=) c.180+155C>T c.*200C>T (n.*200C>T) c.1581C>T (p.Ile527=) | gnomAD v4 |
| 22 | g.50625208G>C | CA412167176 | ARSA | c.1467C>G (p.Ile489Met) c.1209C>G (p.Ile403Met) c.180+155C>G c.*200C>G (n.*200C>G) c.1581C>G (p.Ile527Met) | |
| 22 | g.50625208G>T | CA515390927 | ARSA | c.1467C>A (p.Ile489=) c.1209C>A (p.Ile403=) c.180+155C>A c.*200C>A (n.*200C>A) c.1581C>A (p.Ile527=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625209A>C | CA412167198 | ARSA | c.1466T>G (p.Ile489Ser) c.1208T>G (p.Ile403Ser) c.180+154T>G c.*199T>G (n.*199T>G) c.1580T>G (p.Ile527Ser) | |
| 22 | g.50625209A>G | CA412167203 | ARSA | c.1466T>C (p.Ile489Thr) c.1208T>C (p.Ile403Thr) c.180+154T>C c.*199T>C (n.*199T>C) c.1580T>C (p.Ile527Thr) | |
| 22 | g.50625209A>T | CA412167218 | ARSA | c.1466T>A (p.Ile489Asn) c.1208T>A (p.Ile403Asn) c.180+154T>A c.*199T>A (n.*199T>A) c.1580T>A (p.Ile527Asn) | |
| 22 | g.50625210T>A | CA412167224 | ARSA | c.1465A>T (p.Ile489Phe) c.1207A>T (p.Ile403Phe) c.180+153A>T c.*198A>T (n.*198A>T) c.1579A>T (p.Ile527Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625210T>C | CA412167244 | ARSA | c.1465A>G (p.Ile489Val) c.1207A>G (p.Ile403Val) c.180+153A>G c.*198A>G (n.*198A>G) c.1579A>G (p.Ile527Val) | |
| 22 | g.50625210T>G | CA412167229 | ARSA | c.1465A>C (p.Ile489Leu) c.1207A>C (p.Ile403Leu) c.180+153A>C c.*198A>C (n.*198A>C) c.1579A>C (p.Ile527Leu) | |
| 22 | g.50625210T= | CA2410958363 | ARSA | c.1465A= (p.Ile489=) c.1207A= (p.Ile403=) c.180+153A= c.*198A= (n.*198A=) c.1579A= (p.Ile527=) | |
| 22 | g.50625211C>A | CA412167249 | ARSA | c.1464G>T (p.Gln488His) c.1206G>T (p.Gln402His) c.180+152G>T c.*197G>T (n.*197G>T) c.1578G>T (p.Gln526His) | |
| 22 | g.50625211C>G | CA412167253 | ARSA | c.1464G>C (p.Gln488His) c.1206G>C (p.Gln402His) c.180+152G>C c.*197G>C (n.*197G>C) c.1578G>C (p.Gln526His) | |
| 22 | g.50625211C>T | CA515390934 | ARSA | c.1464G>A (p.Gln488=) c.1206G>A (p.Gln402=) c.180+152G>A c.*197G>A (n.*197G>A) c.1578G>A (p.Gln526=) | ClinVar |
| 22 | g.50625212T>A | CA412167266 | ARSA | c.1463A>T (p.Gln488Leu) c.1205A>T (p.Gln402Leu) c.180+151A>T c.*196A>T (n.*196A>T) c.1577A>T (p.Gln526Leu) | |
| 22 | g.50625212T>C | CA412167280 | ARSA | c.1463A>G (p.Gln488Arg) c.1205A>G (p.Gln402Arg) c.180+151A>G c.*196A>G (n.*196A>G) c.1577A>G (p.Gln526Arg) | ClinVar dbSNP |
| 22 | g.50625212T>G | CA412167276 | ARSA | c.1463A>C (p.Gln488Pro) c.1205A>C (p.Gln402Pro) c.180+151A>C c.*196A>C (n.*196A>C) c.1577A>C (p.Gln526Pro) | gnomAD v4 |
| 22 | g.50625213G>A | CA116001 | ARSA | c.1462C>T (p.Gln488Ter) c.1204C>T (p.Gln402Ter) c.180+150C>T c.*195C>T (n.*195C>T) c.1576C>T (p.Gln526Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625213G>C | CA412167305 | ARSA | c.1462C>G (p.Gln488Glu) c.1204C>G (p.Gln402Glu) c.180+150C>G c.*195C>G (n.*195C>G) c.1576C>G (p.Gln526Glu) | |
| 22 | g.50625213G= | CA2410958364 | ARSA | c.1462C= (p.Gln488=) c.1204C= (p.Gln402=) c.180+150C= c.*195C= (n.*195C=) c.1576C= (p.Gln526=) | |
| 22 | g.50625213G>T | CA412167287 | ARSA | c.1462C>A (p.Gln488Lys) c.1204C>A (p.Gln402Lys) c.180+150C>A c.*195C>A (n.*195C>A) c.1576C>A (p.Gln526Lys) | gnomAD v4 |
| 22 | g.50625214C>A | CA515390938 | ARSA | c.1461G>T (p.Leu487=) c.1203G>T (p.Leu401=) c.180+149G>T c.*194G>T (n.*194G>T) c.1575G>T (p.Leu525=) | gnomAD v4 |
| 22 | g.50625214C= | CA2410958365 | ARSA | c.1461G= (p.Leu487=) c.1203G= (p.Leu401=) c.180+149G= c.*194G= (n.*194G=) c.1575G= (p.Leu525=) | |
| 22 | g.50625214C>G | CA515390939 | ARSA | c.1461G>C (p.Leu487=) c.1203G>C (p.Leu401=) c.180+149G>C c.*194G>C (n.*194G>C) c.1575G>C (p.Leu525=) | |
| 22 | g.50625214C>T | CA515390941 | ARSA | c.1461G>A (p.Leu487=) c.1203G>A (p.Leu401=) c.180+149G>A c.*194G>A (n.*194G>A) c.1575G>A (p.Leu525=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625215A>C | CA412167310 | ARSA | c.1460T>G (p.Leu487Arg) c.1202T>G (p.Leu401Arg) c.180+148T>G c.*193T>G (n.*193T>G) c.1574T>G (p.Leu525Arg) | |
| 22 | g.50625215A>G | CA412167316 | ARSA | c.1460T>C (p.Leu487Pro) c.1202T>C (p.Leu401Pro) c.180+148T>C c.*193T>C (n.*193T>C) c.1574T>C (p.Leu525Pro) | |
| 22 | g.50625215A>T | CA412167315 | ARSA | c.1460T>A (p.Leu487Gln) c.1202T>A (p.Leu401Gln) c.180+148T>A c.*193T>A (n.*193T>A) c.1574T>A (p.Leu525Gln) | |
| 22 | g.50625216G>A | CA515390945 | ARSA | c.1459C>T (p.Leu487=) c.1201C>T (p.Leu401=) c.180+147C>T c.*192C>T (n.*192C>T) c.1573C>T (p.Leu525=) | ClinVar gnomAD v4 |
| 22 | g.50625216G>C | CA412167317 | ARSA | c.1459C>G (p.Leu487Val) c.1201C>G (p.Leu401Val) c.180+147C>G c.*192C>G (n.*192C>G) c.1573C>G (p.Leu525Val) | |
| 22 | g.50625216G= | CA2410958366 | ARSA | c.1459C= (p.Leu487=) c.1201C= (p.Leu401=) c.180+147C= c.*192C= (n.*192C=) c.1573C= (p.Leu525=) | |
| 22 | g.50625216G>T | CA412167318 | ARSA | c.1459C>A (p.Leu487Met) c.1201C>A (p.Leu401Met) c.180+147C>A c.*192C>A (n.*192C>A) c.1573C>A (p.Leu525Met) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625217G>A | CA515390947 | ARSA | c.1458C>T (p.Ala486=) c.1200C>T (p.Ala400=) c.180+146C>T c.*191C>T (n.*191C>T) c.1572C>T (p.Ala524=) | ClinVar |
| 22 | g.50625217G>C | CA515390948 | ARSA | c.1458C>G (p.Ala486=) c.1200C>G (p.Ala400=) c.180+146C>G c.*191C>G (n.*191C>G) c.1572C>G (p.Ala524=) | |
| 22 | g.50625217G>T | CA515390949 | ARSA | c.1458C>A (p.Ala486=) c.1200C>A (p.Ala400=) c.180+146C>A c.*191C>A (n.*191C>A) c.1572C>A (p.Ala524=) | |
| 22 | g.50625218G>A | CA412167324 | ARSA | c.1457C>T (p.Ala486Val) c.1199C>T (p.Ala400Val) c.180+145C>T c.*190C>T (n.*190C>T) c.1571C>T (p.Ala524Val) | gnomAD v4 |
| 22 | g.50625218G>C | CA412167345 | ARSA | c.1457C>G (p.Ala486Gly) c.1199C>G (p.Ala400Gly) c.180+145C>G c.*190C>G (n.*190C>G) c.1571C>G (p.Ala524Gly) | |
| 22 | g.50625218G>T | CA412167346 | ARSA | c.1457C>A (p.Ala486Asp) c.1199C>A (p.Ala400Asp) c.180+145C>A c.*190C>A (n.*190C>A) c.1571C>A (p.Ala524Asp) | |
| 22 | g.50625219C>A | CA412167350 | ARSA | c.1456G>T (p.Ala486Ser) c.1198G>T (p.Ala400Ser) c.180+144G>T c.*189G>T (n.*189G>T) c.1570G>T (p.Ala524Ser) | dbSNP gnomAD v4 |
| 22 | g.50625219C= | CA2410958367 | ARSA | c.1456G= (p.Ala486=) c.1198G= (p.Ala400=) c.180+144G= c.*189G= (n.*189G=) c.1570G= (p.Ala524=) | |
| 22 | g.50625219C>G | CA412167351 | ARSA | c.1456G>C (p.Ala486Pro) c.1198G>C (p.Ala400Pro) c.180+144G>C c.*189G>C (n.*189G>C) c.1570G>C (p.Ala524Pro) | |
| 22 | g.50625219C>T | CA10324723 | ARSA | c.1456G>A (p.Ala486Thr) c.1198G>A (p.Ala400Thr) c.180+144G>A c.*189G>A (n.*189G>A) c.1570G>A (p.Ala524Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625220G>A | CA325531174 | ARSA | c.1455C>T (p.Pro485=) c.1197C>T (p.Pro399=) c.180+143C>T c.*188C>T (n.*188C>T) c.1569C>T (p.Pro523=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625220G>C | CA515390961 | ARSA | c.1455C>G (p.Pro485=) c.1197C>G (p.Pro399=) c.180+143C>G c.*188C>G (n.*188C>G) c.1569C>G (p.Pro523=) | |
| 22 | g.50625220G= | CA2410958368 | ARSA | c.1455C= (p.Pro485=) c.1197C= (p.Pro399=) c.180+143C= c.*188C= (n.*188C=) c.1569C= (p.Pro523=) | |
| 22 | g.50625220G>T | CA515390958 | ARSA | c.1455C>A (p.Pro485=) c.1197C>A (p.Pro399=) c.180+143C>A c.*188C>A (n.*188C>A) c.1569C>A (p.Pro523=) | |
| 22 | g.50625223dup | CA2657590719 | ARSA | c.1455dup (p.Ala486ArgfsTer?) c.1197dup (p.Ala400ArgfsTer?) c.180+143dup c.*188dup (n.*188dup) c.1569dup (p.Ala524ArgfsTer?) | gnomAD v4 |
| 22 | g.50625221G>A | CA412167355 | ARSA | c.1454C>T (p.Pro485Leu) c.1196C>T (p.Pro399Leu) c.180+142C>T c.*187C>T (n.*187C>T) c.1568C>T (p.Pro523Leu) | gnomAD v4 |
| 22 | g.50625221G>C | CA412167363 | ARSA | c.1454C>G (p.Pro485Arg) c.1196C>G (p.Pro399Arg) c.180+142C>G c.*187C>G (n.*187C>G) c.1568C>G (p.Pro523Arg) | |
| 22 | g.50625221G>T | CA412167368 | ARSA | c.1454C>A (p.Pro485His) c.1196C>A (p.Pro399His) c.180+142C>A c.*187C>A (n.*187C>A) c.1568C>A (p.Pro523His) | |
| 22 | g.50625222G>A | CA412167379 | ARSA | c.1453C>T (p.Pro485Ser) c.1195C>T (p.Pro399Ser) c.180+141C>T c.*186C>T (n.*186C>T) c.1567C>T (p.Pro523Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625222G>C | CA412167375 | ARSA | c.1453C>G (p.Pro485Ala) c.1195C>G (p.Pro399Ala) c.180+141C>G c.*186C>G (n.*186C>G) c.1567C>G (p.Pro523Ala) | |
| 22 | g.50625222G= | CA2410958369 | ARSA | c.1453C= (p.Pro485=) c.1195C= (p.Pro399=) c.180+141C= c.*186C= (n.*186C=) c.1567C= (p.Pro523=) | |
| 22 | g.50625222G>T | CA412167374 | ARSA | c.1453C>A (p.Pro485Thr) c.1195C>A (p.Pro399Thr) c.180+141C>A c.*186C>A (n.*186C>A) c.1567C>A (p.Pro523Thr) | |
| 22 | g.50625223G>A | CA515390971 | ARSA | c.1452C>T (p.Asp484=) c.1194C>T (p.Asp398=) c.180+140C>T c.*185C>T (n.*185C>T) c.1566C>T (p.Asp522=) | gnomAD v4 |
| 22 | g.50625223G>C | CA412167382 | ARSA | c.1452C>G (p.Asp484Glu) c.1194C>G (p.Asp398Glu) c.180+140C>G c.*185C>G (n.*185C>G) c.1566C>G (p.Asp522Glu) | |
| 22 | g.50625223G>T | CA412167386 | ARSA | c.1452C>A (p.Asp484Glu) c.1194C>A (p.Asp398Glu) c.180+140C>A c.*185C>A (n.*185C>A) c.1566C>A (p.Asp522Glu) | |
| 22 | g.50625224del | CA2739268048 | ARSA | c.1451del (p.Asp484AlafsTer?) c.1193del (p.Asp398AlafsTer?) c.180+139del c.*184del (n.*184del) c.1565del (p.Asp522AlafsTer?) | ClinVar |
| 22 | g.50625224T>A | CA412167393 | ARSA | c.1451A>T (p.Asp484Val) c.1193A>T (p.Asp398Val) c.180+139A>T c.*184A>T (n.*184A>T) c.1565A>T (p.Asp522Val) | |
| 22 | g.50625224T>C | CA412167395 | ARSA | c.1451A>G (p.Asp484Gly) c.1193A>G (p.Asp398Gly) c.180+139A>G c.*184A>G (n.*184A>G) c.1565A>G (p.Asp522Gly) | |
| 22 | g.50625224T>G | CA412167396 | ARSA | c.1451A>C (p.Asp484Ala) c.1193A>C (p.Asp398Ala) c.180+139A>C c.*184A>C (n.*184A>C) c.1565A>C (p.Asp522Ala) | |
| 22 | g.50625225C>A | CA412167398 | ARSA | c.1450G>T (p.Asp484Tyr) c.1192G>T (p.Asp398Tyr) c.180+138G>T c.*183G>T (n.*183G>T) c.1564G>T (p.Asp522Tyr) | |
| 22 | g.50625225C= | CA2410958370 | ARSA | c.1450G= (p.Asp484=) c.1192G= (p.Asp398=) c.180+138G= c.*183G= (n.*183G=) c.1564G= (p.Asp522=) | |
| 22 | g.50625225C>G | CA10324724 | ARSA | c.1450G>C (p.Asp484His) c.1192G>C (p.Asp398His) c.180+138G>C c.*183G>C (n.*183G>C) c.1564G>C (p.Asp522His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625225C>T | CA412167405 | ARSA | c.1450G>A (p.Asp484Asn) c.1192G>A (p.Asp398Asn) c.180+138G>A c.*183G>A (n.*183G>A) c.1564G>A (p.Asp522Asn) | gnomAD v4 |
| 22 | g.50625226C>A | CA412167418 | ARSA | c.1449G>T (p.Glu483Asp) c.1191G>T (p.Glu397Asp) c.180+137G>T c.*182G>T (n.*182G>T) c.1563G>T (p.Glu521Asp) | |
| 22 | g.50625226C>G | CA412167424 | ARSA | c.1449G>C (p.Glu483Asp) c.1191G>C (p.Glu397Asp) c.180+137G>C c.*182G>C (n.*182G>C) c.1563G>C (p.Glu521Asp) | |
| 22 | g.50625226C>T | CA515390982 | ARSA | c.1449G>A (p.Glu483=) c.1191G>A (p.Glu397=) c.180+137G>A c.*182G>A (n.*182G>A) c.1563G>A (p.Glu521=) | |
| 22 | g.50625227T>A | CA412167430 | ARSA | c.1448A>T (p.Glu483Val) c.1190A>T (p.Glu397Val) c.180+136A>T c.*181A>T (n.*181A>T) c.1562A>T (p.Glu521Val) | |
| 22 | g.50625227T>C | CA412167436 | ARSA | c.1448A>G (p.Glu483Gly) c.1190A>G (p.Glu397Gly) c.180+136A>G c.*181A>G (n.*181A>G) c.1562A>G (p.Glu521Gly) | |
| 22 | g.50625227T>G | CA412167439 | ARSA | c.1448A>C (p.Glu483Ala) c.1190A>C (p.Glu397Ala) c.180+136A>C c.*181A>C (n.*181A>C) c.1562A>C (p.Glu521Ala) | |
| 22 | g.50625228C>A | CA10324725 | ARSA | c.1447G>T (p.Glu483Ter) c.1189G>T (p.Glu397Ter) c.180+135G>T c.*180G>T (n.*180G>T) c.1561G>T (p.Glu521Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625228C= | CA2410958371 | ARSA | c.1447G= (p.Glu483=) c.1189G= (p.Glu397=) c.180+135G= c.*180G= (n.*180G=) c.1561G= (p.Glu521=) | |
| 22 | g.50625228C>G | CA412167450 | ARSA | c.1447G>C (p.Glu483Gln) c.1189G>C (p.Glu397Gln) c.180+135G>C c.*180G>C (n.*180G>C) c.1561G>C (p.Glu521Gln) | |
| 22 | g.50625228C>T | CA247540 | ARSA | c.1447G>A (p.Glu483Lys) c.1189G>A (p.Glu397Lys) c.180+135G>A c.*180G>A (n.*180G>A) c.1561G>A (p.Glu521Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G>A | CA325531179 | ARSA | c.1446C>T (p.Gly482=) c.1188C>T (p.Gly396=) c.180+134C>T c.*179C>T (n.*179C>T) c.1560C>T (p.Gly520=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G>C | CA515390988 | ARSA | c.1446C>G (p.Gly482=) c.1188C>G (p.Gly396=) c.180+134C>G c.*179C>G (n.*179C>G) c.1560C>G (p.Gly520=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625229G= | CA2410958372 | ARSA | c.1446C= (p.Gly482=) c.1188C= (p.Gly396=) c.180+134C= c.*179C= (n.*179C=) c.1560C= (p.Gly520=) | |
| 22 | g.50625229G>T | CA325531181 | ARSA | c.1446C>A (p.Gly482=) c.1188C>A (p.Gly396=) c.180+134C>A c.*179C>A (n.*179C>A) c.1560C>A (p.Gly520=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625230C>A | CA412167459 | ARSA | c.1445G>T (p.Gly482Val) c.1187G>T (p.Gly396Val) c.180+133G>T c.*178G>T (n.*178G>T) c.1559G>T (p.Gly520Val) | |
| 22 | g.50625230C= | CA2410958373 | ARSA | c.1445G= (p.Gly482=) c.1187G= (p.Gly396=) c.180+133G= c.*178G= (n.*178G=) c.1559G= (p.Gly520=) | |
| 22 | g.50625230C>G | CA412167463 | ARSA | c.1445G>C (p.Gly482Ala) c.1187G>C (p.Gly396Ala) c.180+133G>C c.*178G>C (n.*178G>C) c.1559G>C (p.Gly520Ala) | |
| 22 | g.50625230C>T | CA10324726 | ARSA | c.1445G>A (p.Gly482Asp) c.1187G>A (p.Gly396Asp) c.180+133G>A c.*178G>A (n.*178G>A) c.1559G>A (p.Gly520Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625233del | CA2657590774 | ARSA | c.1445del (p.Gly482AlafsTer?) c.1187del (p.Gly396AlafsTer?) c.180+133del c.*178del (n.*178del) c.1559del (p.Gly520AlafsTer?) | gnomAD v4 |
| 22 | g.50625231C>A | CA412167467 | ARSA | c.1444G>T (p.Gly482Cys) c.1186G>T (p.Gly396Cys) c.180+132G>T c.*177G>T (n.*177G>T) c.1558G>T (p.Gly520Cys) | |
| 22 | g.50625231C= | CA2410958374 | ARSA | c.1444G= (p.Gly482=) c.1186G= (p.Gly396=) c.180+132G= c.*177G= (n.*177G=) c.1558G= (p.Gly520=) | |
| 22 | g.50625231C>G | CA412167468 | ARSA | c.1444G>C (p.Gly482Arg) c.1186G>C (p.Gly396Arg) c.180+132G>C c.*177G>C (n.*177G>C) c.1558G>C (p.Gly520Arg) | |
| 22 | g.50625231C>T | CA10324727 | ARSA | c.1444G>A (p.Gly482Ser) c.1186G>A (p.Gly396Ser) c.180+132G>A c.*177G>A (n.*177G>A) c.1558G>A (p.Gly520Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625232C>A | CA515391002 | ARSA | c.1443G>T (p.Arg481=) c.1185G>T (p.Arg395=) c.180+131G>T c.*176G>T (n.*176G>T) c.1557G>T (p.Arg519=) | |
| 22 | g.50625232C= | CA2410958375 | ARSA | c.1443G= (p.Arg481=) c.1185G= (p.Arg395=) c.180+131G= c.*176G= (n.*176G=) c.1557G= (p.Arg519=) | |
| 22 | g.50625232C>G | CA515391005 | ARSA | c.1443G>C (p.Arg481=) c.1185G>C (p.Arg395=) c.180+131G>C c.*176G>C (n.*176G>C) c.1557G>C (p.Arg519=) | |
| 22 | g.50625232C>T | CA515391006 | ARSA | c.1443G>A (p.Arg481=) c.1185G>A (p.Arg395=) c.180+131G>A c.*176G>A (n.*176G>A) c.1557G>A (p.Arg519=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625233C>A | CA325531185 | ARSA | c.1442G>T (p.Arg481Leu) c.1184G>T (p.Arg395Leu) c.180+130G>T c.*175G>T (n.*175G>T) c.1556G>T (p.Arg519Leu) | dbSNP gnomAD v4 |
| 22 | g.50625233C= | CA2410958376 | ARSA | c.1442G= (p.Arg481=) c.1184G= (p.Arg395=) c.180+130G= c.*175G= (n.*175G=) c.1556G= (p.Arg519=) | |
| 22 | g.50625233C>G | CA412167471 | ARSA | c.1442G>C (p.Arg481Pro) c.1184G>C (p.Arg395Pro) c.180+130G>C c.*175G>C (n.*175G>C) c.1556G>C (p.Arg519Pro) | ClinVar gnomAD v4 |
| 22 | g.50625233C>T | CA10324728 | ARSA | c.1442G>A (p.Arg481Gln) c.1184G>A (p.Arg395Gln) c.180+130G>A c.*175G>A (n.*175G>A) c.1556G>A (p.Arg519Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625234G>A | CA10324729 | ARSA | c.1441C>T (p.Arg481Trp) c.1183C>T (p.Arg395Trp) c.180+129C>T c.*174C>T (n.*174C>T) c.1555C>T (p.Arg519Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625234G>C | CA412167480 | ARSA | c.1441C>G (p.Arg481Gly) c.1183C>G (p.Arg395Gly) c.180+129C>G c.*174C>G (n.*174C>G) c.1555C>G (p.Arg519Gly) | |
| 22 | g.50625234G= | CA2410958377 | ARSA | c.1441C= (p.Arg481=) c.1183C= (p.Arg395=) c.180+129C= c.*174C= (n.*174C=) c.1555C= (p.Arg519=) | |
| 22 | g.50625234G>T | CA515391019 | ARSA | c.1441C>A (p.Arg481=) c.1183C>A (p.Arg395=) c.180+129C>A c.*174C>A (n.*174C>A) c.1555C>A (p.Arg519=) | ClinVar dbSNP |
| 22 | g.50625235G>A | CA515391020 | ARSA | c.1440C>T (p.Ala480=) c.1182C>T (p.Ala394=) c.180+128C>T c.*173C>T (n.*173C>T) c.1554C>T (p.Ala518=) | |
| 22 | g.50625235G>C | CA515391021 | ARSA | c.1440C>G (p.Ala480=) c.1182C>G (p.Ala394=) c.180+128C>G c.*173C>G (n.*173C>G) c.1554C>G (p.Ala518=) | |
| 22 | g.50625235G>T | CA515391022 | ARSA | c.1440C>A (p.Ala480=) c.1182C>A (p.Ala394=) c.180+128C>A c.*173C>A (n.*173C>A) c.1554C>A (p.Ala518=) | gnomAD v4 |
| 22 | g.50625236G>A | CA412167483 | ARSA | c.1439C>T (p.Ala480Val) c.1181C>T (p.Ala394Val) c.180+127C>T c.*172C>T (n.*172C>T) c.1553C>T (p.Ala518Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625236G>C | CA412167491 | ARSA | c.1439C>G (p.Ala480Gly) c.1181C>G (p.Ala394Gly) c.180+127C>G c.*172C>G (n.*172C>G) c.1553C>G (p.Ala518Gly) | |
| 22 | g.50625236G= | CA2410958378 | ARSA | c.1439C= (p.Ala480=) c.1181C= (p.Ala394=) c.180+127C= c.*172C= (n.*172C=) c.1553C= (p.Ala518=) | |
| 22 | g.50625236G>T | CA412167494 | ARSA | c.1439C>A (p.Ala480Asp) c.1181C>A (p.Ala394Asp) c.180+127C>A c.*172C>A (n.*172C>A) c.1553C>A (p.Ala518Asp) | |
| 22 | g.50625237C>A | CA412167500 | ARSA | c.1438G>T (p.Ala480Ser) c.1180G>T (p.Ala394Ser) c.180+126G>T c.*171G>T (n.*171G>T) c.1552G>T (p.Ala518Ser) | |
| 22 | g.50625237C>G | CA412167504 | ARSA | c.1438G>C (p.Ala480Pro) c.1180G>C (p.Ala394Pro) c.180+126G>C c.*171G>C (n.*171G>C) c.1552G>C (p.Ala518Pro) | |
| 22 | g.50625237C>T | CA412167502 | ARSA | c.1438G>A (p.Ala480Thr) c.1180G>A (p.Ala394Thr) c.180+126G>A c.*171G>A (n.*171G>A) c.1552G>A (p.Ala518Thr) | |
| 22 | g.50625238C>A | CA515391036 | ARSA | c.1437G>T (p.Val479=) c.1179G>T (p.Val393=) c.180+125G>T c.*170G>T (n.*170G>T) c.1551G>T (p.Val517=) | |
| 22 | g.50625238C>G | CA515391037 | ARSA | c.1437G>C (p.Val479=) c.1179G>C (p.Val393=) c.180+125G>C c.*170G>C (n.*170G>C) c.1551G>C (p.Val517=) | |
| 22 | g.50625238C>T | CA515391038 | ARSA | c.1437G>A (p.Val479=) c.1179G>A (p.Val393=) c.180+125G>A c.*170G>A (n.*170G>A) c.1551G>A (p.Val517=) | |
| 22 | g.50625239A>C | CA412167506 | ARSA | c.1436T>G (p.Val479Gly) c.1178T>G (p.Val393Gly) c.180+124T>G c.*169T>G (n.*169T>G) c.1550T>G (p.Val517Gly) | |
| 22 | g.50625239A>G | CA412167507 | ARSA | c.1436T>C (p.Val479Ala) c.1178T>C (p.Val393Ala) c.180+124T>C c.*169T>C (n.*169T>C) c.1550T>C (p.Val517Ala) | ClinVar |
| 22 | g.50625239A>T | CA412167511 | ARSA | c.1436T>A (p.Val479Glu) c.1178T>A (p.Val393Glu) c.180+124T>A c.*169T>A (n.*169T>A) c.1550T>A (p.Val517Glu) | |
| 22 | g.50625240C>A | CA412167516 | ARSA | c.1435G>T (p.Val479Leu) c.1177G>T (p.Val393Leu) c.180+123G>T c.*168G>T (n.*168G>T) c.1549G>T (p.Val517Leu) | |
| 22 | g.50625240C= | CA2410958379 | ARSA | c.1435G= (p.Val479=) c.1177G= (p.Val393=) c.180+123G= c.*168G= (n.*168G=) c.1549G= (p.Val517=) | |
| 22 | g.50625240C>G | CA412167518 | ARSA | c.1435G>C (p.Val479Leu) c.1177G>C (p.Val393Leu) c.180+123G>C c.*168G>C (n.*168G>C) c.1549G>C (p.Val517Leu) | |
| 22 | g.50625240C>T | CA325531190 | ARSA | c.1435G>A (p.Val479Met) c.1177G>A (p.Val393Met) c.180+123G>A c.*168G>A (n.*168G>A) c.1549G>A (p.Val517Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625241del | CA2657590802 | ARSA | c.1435del (p.Val479TrpfsTer?) c.1177del (p.Val393TrpfsTer?) c.180+123del c.*168del (n.*168del) c.1549del (p.Val517TrpfsTer?) | gnomAD v4 |
| 22 | g.50625241C>A | CA412167526 | ARSA | c.1434G>T (p.Gln478His) c.1176G>T (p.Gln392His) c.180+122G>T c.*167G>T (n.*167G>T) c.1548G>T (p.Gln516His) | |
| 22 | g.50625241C= | CA2410958380 | ARSA | c.1434G= (p.Gln478=) c.1176G= (p.Gln392=) c.180+122G= c.*167G= (n.*167G=) c.1548G= (p.Gln516=) | |
| 22 | g.50625241C>G | CA412167528 | ARSA | c.1434G>C (p.Gln478His) c.1176G>C (p.Gln392His) c.180+122G>C c.*167G>C (n.*167G>C) c.1548G>C (p.Gln516His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625241C>T | CA10324730 | ARSA | c.1434G>A (p.Gln478=) c.1176G>A (p.Gln392=) c.180+122G>A c.*167G>A (n.*167G>A) c.1548G>A (p.Gln516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625242T>A | CA412167532 | ARSA | c.1433A>T (p.Gln478Leu) c.1175A>T (p.Gln392Leu) c.180+121A>T c.*166A>T (n.*166A>T) c.1547A>T (p.Gln516Leu) | |
| 22 | g.50625242T>C | CA412167557 | ARSA | c.1433A>G (p.Gln478Arg) c.1175A>G (p.Gln392Arg) c.180+121A>G c.*166A>G (n.*166A>G) c.1547A>G (p.Gln516Arg) | |
| 22 | g.50625242T>G | CA412167567 | ARSA | c.1433A>C (p.Gln478Pro) c.1175A>C (p.Gln392Pro) c.180+121A>C c.*166A>C (n.*166A>C) c.1547A>C (p.Gln516Pro) | |
| 22 | g.50625243G>A | CA412167577 | ARSA | c.1432C>T (p.Gln478Ter) c.1174C>T (p.Gln392Ter) c.180+120C>T c.*165C>T (n.*165C>T) c.1546C>T (p.Gln516Ter) | |
| 22 | g.50625243G>C | CA412167576 | ARSA | c.1432C>G (p.Gln478Glu) c.1174C>G (p.Gln392Glu) c.180+120C>G c.*165C>G (n.*165C>G) c.1546C>G (p.Gln516Glu) | dbSNP |
| 22 | g.50625243G= | CA2410958381 | ARSA | c.1432C= (p.Gln478=) c.1174C= (p.Gln392=) c.180+120C= c.*165C= (n.*165C=) c.1546C= (p.Gln516=) | |
| 22 | g.50625243G>T | CA412167575 | ARSA | c.1432C>A (p.Gln478Lys) c.1174C>A (p.Gln392Lys) c.180+120C>A c.*165C>A (n.*165C>A) c.1546C>A (p.Gln516Lys) | |
| 22 | g.50625244G>A | CA515391056 | ARSA | c.1431C>T (p.Ser477=) c.1173C>T (p.Ser391=) c.180+119C>T c.*164C>T (n.*164C>T) c.1545C>T (p.Ser515=) | |
| 22 | g.50625244G>C | CA412167578 | ARSA | c.1431C>G (p.Ser477Arg) c.1173C>G (p.Ser391Arg) c.180+119C>G c.*164C>G (n.*164C>G) c.1545C>G (p.Ser515Arg) | |
| 22 | g.50625244G>T | CA412167580 | ARSA | c.1431C>A (p.Ser477Arg) c.1173C>A (p.Ser391Arg) c.180+119C>A c.*164C>A (n.*164C>A) c.1545C>A (p.Ser515Arg) | |
| 22 | g.50625245C>A | CA412167590 | ARSA | c.1430G>T (p.Ser477Ile) c.1172G>T (p.Ser391Ile) c.180+118G>T c.*163G>T (n.*163G>T) c.1544G>T (p.Ser515Ile) | gnomAD v4 |
| 22 | g.50625245C>G | CA412167596 | ARSA | c.1430G>C (p.Ser477Thr) c.1172G>C (p.Ser391Thr) c.180+118G>C c.*163G>C (n.*163G>C) c.1544G>C (p.Ser515Thr) | |
| 22 | g.50625245C>T | CA412167602 | ARSA | c.1430G>A (p.Ser477Asn) c.1172G>A (p.Ser391Asn) c.180+118G>A c.*163G>A (n.*163G>A) c.1544G>A (p.Ser515Asn) | |
| 22 | g.50625246T>A | CA412167628 | ARSA | c.1429A>T (p.Ser477Cys) c.1171A>T (p.Ser391Cys) c.180+117A>T c.*162A>T (n.*162A>T) c.1543A>T (p.Ser515Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625246T>C | CA412167621 | ARSA | c.1429A>G (p.Ser477Gly) c.1171A>G (p.Ser391Gly) c.180+117A>G c.*162A>G (n.*162A>G) c.1543A>G (p.Ser515Gly) | |
| 22 | g.50625246T>G | CA412167616 | ARSA | c.1429A>C (p.Ser477Arg) c.1171A>C (p.Ser391Arg) c.180+117A>C c.*162A>C (n.*162A>C) c.1543A>C (p.Ser515Arg) | |
| 22 | g.50625246T= | CA2410958382 | ARSA | c.1429A= (p.Ser477=) c.1171A= (p.Ser391=) c.180+117A= c.*162A= (n.*162A=) c.1543A= (p.Ser515=) | |
| 22 | g.50625247G>A | CA515391062 | ARSA | c.1428C>T (p.Pro476=) c.1170C>T (p.Pro390=) c.180+116C>T c.*161C>T (n.*161C>T) c.1542C>T (p.Pro514=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625247G>C | CA515391065 | ARSA | c.1428C>G (p.Pro476=) c.1170C>G (p.Pro390=) c.180+116C>G c.*161C>G (n.*161C>G) c.1542C>G (p.Pro514=) | |
| 22 | g.50625247G= | CA2410958383 | ARSA | c.1428C= (p.Pro476=) c.1170C= (p.Pro390=) c.180+116C= c.*161C= (n.*161C=) c.1542C= (p.Pro514=) | |
| 22 | g.50625247G>T | CA515391066 | ARSA | c.1428C>A (p.Pro476=) c.1170C>A (p.Pro390=) c.180+116C>A c.*161C>A (n.*161C>A) c.1542C>A (p.Pro514=) | |
| 22 | g.50625250dup | CA2695231020 | ARSA | c.1428dup (p.Ser477GlnfsTer?) c.1170dup (p.Ser391GlnfsTer?) c.180+116dup c.*161dup (n.*161dup) c.1542dup (p.Ser515GlnfsTer?) | ClinVar |
| 22 | g.50625248G>A | CA412167643 | ARSA | c.1427C>T (p.Pro476Leu) c.1169C>T (p.Pro390Leu) c.180+115C>T c.*160C>T (n.*160C>T) c.1541C>T (p.Pro514Leu) | |
| 22 | g.50625248G>C | CA412167649 | ARSA | c.1427C>G (p.Pro476Arg) c.1169C>G (p.Pro390Arg) c.180+115C>G c.*160C>G (n.*160C>G) c.1541C>G (p.Pro514Arg) | |
| 22 | g.50625248G>T | CA412167654 | ARSA | c.1427C>A (p.Pro476His) c.1169C>A (p.Pro390His) c.180+115C>A c.*160C>A (n.*160C>A) c.1541C>A (p.Pro514His) | |
| 22 | g.50625249G>A | CA412167657 | ARSA | c.1426C>T (p.Pro476Ser) c.1168C>T (p.Pro390Ser) c.180+114C>T c.*159C>T (n.*159C>T) c.1540C>T (p.Pro514Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625249G>C | CA412167659 | ARSA | c.1426C>G (p.Pro476Ala) c.1168C>G (p.Pro390Ala) c.180+114C>G c.*159C>G (n.*159C>G) c.1540C>G (p.Pro514Ala) | |
| 22 | g.50625249G= | CA2410958384 | ARSA | c.1426C= (p.Pro476=) c.1168C= (p.Pro390=) c.180+114C= c.*159C= (n.*159C=) c.1540C= (p.Pro514=) | |
| 22 | g.50625249G>T | CA412167662 | ARSA | c.1426C>A (p.Pro476Thr) c.1168C>A (p.Pro390Thr) c.180+114C>A c.*159C>A (n.*159C>A) c.1540C>A (p.Pro514Thr) | |
| 22 | g.50625250G>A | CA515391074 | ARSA | c.1425C>T (p.Gly475=) c.1167C>T (p.Gly389=) c.180+113C>T c.*158C>T (n.*158C>T) c.1539C>T (p.Gly513=) | gnomAD v4 |
| 22 | g.50625250G>C | CA515391075 | ARSA | c.1425C>G (p.Gly475=) c.1167C>G (p.Gly389=) c.180+113C>G c.*158C>G (n.*158C>G) c.1539C>G (p.Gly513=) | |
| 22 | g.50625250G>T | CA515391077 | ARSA | c.1425C>A (p.Gly475=) c.1167C>A (p.Gly389=) c.180+113C>A c.*158C>A (n.*158C>A) c.1539C>A (p.Gly513=) | |
| 22 | g.50625251C>A | CA412167678 | ARSA | c.1424G>T (p.Gly475Val) c.1166G>T (p.Gly389Val) c.180+112G>T c.*157G>T (n.*157G>T) c.1538G>T (p.Gly513Val) | |
| 22 | g.50625251C>G | CA412167667 | ARSA | c.1424G>C (p.Gly475Ala) c.1166G>C (p.Gly389Ala) c.180+112G>C c.*157G>C (n.*157G>C) c.1538G>C (p.Gly513Ala) | |
| 22 | g.50625251C>T | CA412167676 | ARSA | c.1424G>A (p.Gly475Asp) c.1166G>A (p.Gly389Asp) c.180+112G>A c.*157G>A (n.*157G>A) c.1538G>A (p.Gly513Asp) | |
| 22 | g.50625252C>A | CA412167684 | ARSA | c.1423G>T (p.Gly475Cys) c.1165G>T (p.Gly389Cys) c.180+111G>T c.*156G>T (n.*156G>T) c.1537G>T (p.Gly513Cys) | |
| 22 | g.50625252C= | CA2410958385 | ARSA | c.1423G= (p.Gly475=) c.1165G= (p.Gly389=) c.180+111G= c.*156G= (n.*156G=) c.1537G= (p.Gly513=) | |
| 22 | g.50625252C>G | CA325531193 | ARSA | c.1423G>C (p.Gly475Arg) c.1165G>C (p.Gly389Arg) c.180+111G>C c.*156G>C (n.*156G>C) c.1537G>C (p.Gly513Arg) | dbSNP gnomAD v4 |
| 22 | g.50625252C>T | CA412167691 | ARSA | c.1423G>A (p.Gly475Ser) c.1165G>A (p.Gly389Ser) c.180+111G>A c.*156G>A (n.*156G>A) c.1537G>A (p.Gly513Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.50625253G>A | CA10324731 | ARSA | c.1422C>T (p.Phe474=) c.1164C>T (p.Phe388=) c.180+110C>T c.*155C>T (n.*155C>T) c.1536C>T (p.Phe512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625253G>C | CA412167695 | ARSA | c.1422C>G (p.Phe474Leu) c.1164C>G (p.Phe388Leu) c.180+110C>G c.*155C>G (n.*155C>G) c.1536C>G (p.Phe512Leu) | |
| 22 | g.50625253G= | CA2410958386 | ARSA | c.1422C= (p.Phe474=) c.1164C= (p.Phe388=) c.180+110C= c.*155C= (n.*155C=) c.1536C= (p.Phe512=) | |
| 22 | g.50625253G>T | CA412167705 | ARSA | c.1422C>A (p.Phe474Leu) c.1164C>A (p.Phe388Leu) c.180+110C>A c.*155C>A (n.*155C>A) c.1536C>A (p.Phe512Leu) | |
| 22 | g.50625254A>C | CA412167709 | ARSA | c.1421T>G (p.Phe474Cys) c.1163T>G (p.Phe388Cys) c.180+109T>G c.*154T>G (n.*154T>G) c.1535T>G (p.Phe512Cys) | |
| 22 | g.50625254A>G | CA412167711 | ARSA | c.1421T>C (p.Phe474Ser) c.1163T>C (p.Phe388Ser) c.180+109T>C c.*154T>C (n.*154T>C) c.1535T>C (p.Phe512Ser) | |
| 22 | g.50625254A>T | CA412167719 | ARSA | c.1421T>A (p.Phe474Tyr) c.1163T>A (p.Phe388Tyr) c.180+109T>A c.*154T>A (n.*154T>A) c.1535T>A (p.Phe512Tyr) | |
| 22 | g.50625255A>C | CA412167723 | ARSA | c.1420T>G (p.Phe474Val) c.1162T>G (p.Phe388Val) c.180+108T>G c.*153T>G (n.*153T>G) c.1534T>G (p.Phe512Val) | |
| 22 | g.50625255A>G | CA412167727 | ARSA | c.1420T>C (p.Phe474Leu) c.1162T>C (p.Phe388Leu) c.180+108T>C c.*153T>C (n.*153T>C) c.1534T>C (p.Phe512Leu) | |
| 22 | g.50625255A>T | CA412167728 | ARSA | c.1420T>A (p.Phe474Ile) c.1162T>A (p.Phe388Ile) c.180+108T>A c.*153T>A (n.*153T>A) c.1534T>A (p.Phe512Ile) | |
| 22 | g.50625255_50625267delinsAGGTCACAGCTGC | CA2410958387 | ARSA | c.1408_1420delinsGCAGCTGTGACCT (p.Ala470=) c.1150_1162delinsGCAGCTGTGACCT (p.Ala384=) c.180+96_180+108delinsGCAGCTGTGACCT c.*141_*153delinsGCAGCTGTGACCT (n.*141_*153delinsGCAGCTGTGACCT) c.1522_1534delinsGCAGCTGTGACCT (p.Ala508=) | |
| 22 | g.50625256G>A | CA515391101 | ARSA | c.1419C>T (p.Thr473=) c.1161C>T (p.Thr387=) c.180+107C>T c.*152C>T (n.*152C>T) c.1533C>T (p.Thr511=) | |
| 22 | g.50625256G>C | CA515391103 | ARSA | c.1419C>G (p.Thr473=) c.1161C>G (p.Thr387=) c.180+107C>G c.*152C>G (n.*152C>G) c.1533C>G (p.Thr511=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625256G= | CA2410958389 | ARSA | c.1419C= (p.Thr473=) c.1161C= (p.Thr387=) c.180+107C= c.*152C= (n.*152C=) c.1533C= (p.Thr511=) | |
| 22 | g.50625256G>T | CA515391104 | ARSA | c.1419C>A (p.Thr473=) c.1161C>A (p.Thr387=) c.180+107C>A c.*152C>A (n.*152C>A) c.1533C>A (p.Thr511=) | |
| 22 | g.50625256_50625267delinsGGTCACAGCTGC | CA2410958388 | ARSA | c.1408_1419delinsGCAGCTGTGACC (p.Ala470=) c.1150_1161delinsGCAGCTGTGACC (p.Ala384=) c.180+96_180+107delinsGCAGCTGTGACC c.*141_*152delinsGCAGCTGTGACC (n.*141_*152delinsGCAGCTGTGACC) c.1522_1533delinsGCAGCTGTGACC (p.Ala508=) | |
| 22 | g.50625257_50625268del | CA1139667190 | ARSA | c.1408_1419del (p.Ala470_Thr473del) c.1150_1161del (p.Ala384_Thr387del) c.180+96_180+107del c.*141_*152del (n.*141_*152del) c.1522_1533del (p.Ala508_Thr511del) | ClinVar dbSNP |
| 22 | g.50625257G>A | CA412167731 | ARSA | c.1418C>T (p.Thr473Ile) c.1160C>T (p.Thr387Ile) c.180+106C>T c.*151C>T (n.*151C>T) c.1532C>T (p.Thr511Ile) | |
| 22 | g.50625257G>C | CA412167730 | ARSA | c.1418C>G (p.Thr473Ser) c.1160C>G (p.Thr387Ser) c.180+106C>G c.*151C>G (n.*151C>G) c.1532C>G (p.Thr511Ser) | |
| 22 | g.50625257G>T | CA412167729 | ARSA | c.1418C>A (p.Thr473Asn) c.1160C>A (p.Thr387Asn) c.180+106C>A c.*151C>A (n.*151C>A) c.1532C>A (p.Thr511Asn) | |
| 22 | g.50625260_50625270del | CA278517 | ARSA | c.1408_1418del (p.Ala470LeufsTer?) c.1150_1160del (p.Ala384LeufsTer?) c.180+96_180+106del c.*141_*151del (n.*141_*151del) c.1522_1532del (p.Ala508LeufsTer?) | ClinVar dbSNP |
| 22 | g.50625258T>A | CA412167733 | ARSA | c.1417A>T (p.Thr473Ser) c.1159A>T (p.Thr387Ser) c.180+105A>T c.*150A>T (n.*150A>T) c.1531A>T (p.Thr511Ser) | ClinVar dbSNP |
| 22 | g.50625258T>C | CA412167735 | ARSA | c.1417A>G (p.Thr473Ala) c.1159A>G (p.Thr387Ala) c.180+105A>G c.*150A>G (n.*150A>G) c.1531A>G (p.Thr511Ala) | |
| 22 | g.50625258T>G | CA412167738 | ARSA | c.1417A>C (p.Thr473Pro) c.1159A>C (p.Thr387Pro) c.180+105A>C c.*150A>C (n.*150A>C) c.1531A>C (p.Thr511Pro) | dbSNP |
| 22 | g.50625258T= | CA2410958390 | ARSA | c.1417A= (p.Thr473=) c.1159A= (p.Thr387=) c.180+105A= c.*150A= (n.*150A=) c.1531A= (p.Thr511=) | |
| 22 | g.50625259C>A | CA515391108 | ARSA | c.1416G>T (p.Val472=) c.1158G>T (p.Val386=) c.180+104G>T c.*149G>T (n.*149G>T) c.1530G>T (p.Val510=) | |
| 22 | g.50625259C>G | CA515391109 | ARSA | c.1416G>C (p.Val472=) c.1158G>C (p.Val386=) c.180+104G>C c.*149G>C (n.*149G>C) c.1530G>C (p.Val510=) | |
| 22 | g.50625259C>T | CA515391110 | ARSA | c.1416G>A (p.Val472=) c.1158G>A (p.Val386=) c.180+104G>A c.*149G>A (n.*149G>A) c.1530G>A (p.Val510=) | |
| 22 | g.50625260A= | CA2410958391 | ARSA | c.1415T= (p.Val472=) c.1157T= (p.Val386=) c.180+103T= c.*148T= (n.*148T=) c.1529T= (p.Val510=) | |
| 22 | g.50625260A>C | CA412167742 | ARSA | c.1415T>G (p.Val472Gly) c.1157T>G (p.Val386Gly) c.180+103T>G c.*148T>G (n.*148T>G) c.1529T>G (p.Val510Gly) | |
| 22 | g.50625260A>G | CA325531198 | ARSA | c.1415T>C (p.Val472Ala) c.1157T>C (p.Val386Ala) c.180+103T>C c.*148T>C (n.*148T>C) c.1529T>C (p.Val510Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625260A>T | CA412167748 | ARSA | c.1415T>A (p.Val472Glu) c.1157T>A (p.Val386Glu) c.180+103T>A c.*148T>A (n.*148T>A) c.1529T>A (p.Val510Glu) | |
| 22 | g.50625261C>A | CA412167752 | ARSA | c.1414G>T (p.Val472Leu) c.1156G>T (p.Val386Leu) c.180+102G>T c.*147G>T (n.*147G>T) c.1528G>T (p.Val510Leu) | |
| 22 | g.50625261C= | CA2410958392 | ARSA | c.1414G= (p.Val472=) c.1156G= (p.Val386=) c.180+102G= c.*147G= (n.*147G=) c.1528G= (p.Val510=) | |
| 22 | g.50625261C>G | CA412167754 | ARSA | c.1414G>C (p.Val472Leu) c.1156G>C (p.Val386Leu) c.180+102G>C c.*147G>C (n.*147G>C) c.1528G>C (p.Val510Leu) | |
| 22 | g.50625261C>T | CA412167758 | ARSA | c.1414G>A (p.Val472Met) c.1156G>A (p.Val386Met) c.180+102G>A c.*147G>A (n.*147G>A) c.1528G>A (p.Val510Met) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625262A= | CA2410958393 | ARSA | c.1413T= (p.Ala471=) c.1155T= (p.Ala385=) c.180+101T= c.*146T= (n.*146T=) c.1527T= (p.Ala509=) | |
| 22 | g.50625262A>C | CA515391123 | ARSA | c.1413T>G (p.Ala471=) c.1155T>G (p.Ala385=) c.180+101T>G c.*146T>G (n.*146T>G) c.1527T>G (p.Ala509=) | |
| 22 | g.50625262A>G | CA515391119 | ARSA | c.1413T>C (p.Ala471=) c.1155T>C (p.Ala385=) c.180+101T>C c.*146T>C (n.*146T>C) c.1527T>C (p.Ala509=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625262A>T | CA515391121 | ARSA | c.1413T>A (p.Ala471=) c.1155T>A (p.Ala385=) c.180+101T>A c.*146T>A (n.*146T>A) c.1527T>A (p.Ala509=) | dbSNP |
| 22 | g.50625263G>A | CA412167762 | ARSA | c.1412C>T (p.Ala471Val) c.1154C>T (p.Ala385Val) c.180+100C>T c.*145C>T (n.*145C>T) c.1526C>T (p.Ala509Val) | |
| 22 | g.50625263G>C | CA218998 | ARSA | c.1412C>G (p.Ala471Gly) c.1154C>G (p.Ala385Gly) c.180+100C>G c.*145C>G (n.*145C>G) c.1526C>G (p.Ala509Gly) | ClinVar dbSNP |
| 22 | g.50625263G= | CA2410958394 | ARSA | c.1412C= (p.Ala471=) c.1154C= (p.Ala385=) c.180+100C= c.*145C= (n.*145C=) c.1526C= (p.Ala509=) | |
| 22 | g.50625263G>T | CA412167768 | ARSA | c.1412C>A (p.Ala471Asp) c.1154C>A (p.Ala385Asp) c.180+100C>A c.*145C>A (n.*145C>A) c.1526C>A (p.Ala509Asp) | |
| 22 | g.50625264C>A | CA412167781 | ARSA | c.1411G>T (p.Ala471Ser) c.1153G>T (p.Ala385Ser) c.180+99G>T c.*144G>T (n.*144G>T) c.1525G>T (p.Ala509Ser) | |
| 22 | g.50625264C= | CA2410958395 | ARSA | c.1411G= (p.Ala471=) c.1153G= (p.Ala385=) c.180+99G= c.*144G= (n.*144G=) c.1525G= (p.Ala509=) | |
| 22 | g.50625264C>G | CA412167778 | ARSA | c.1411G>C (p.Ala471Pro) c.1153G>C (p.Ala385Pro) c.180+99G>C c.*144G>C (n.*144G>C) c.1525G>C (p.Ala509Pro) | |
| 22 | g.50625264C>T | CA412167774 | ARSA | c.1411G>A (p.Ala471Thr) c.1153G>A (p.Ala385Thr) c.180+99G>A c.*144G>A (n.*144G>A) c.1525G>A (p.Ala509Thr) | dbSNP gnomAD v4 |
| 22 | g.50625265T>A | CA10324732 | ARSA | c.1410A>T (p.Ala470=) c.1152A>T (p.Ala384=) c.180+98A>T c.*143A>T (n.*143A>T) c.1524A>T (p.Ala508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625265T>C | CA515391133 | ARSA | c.1410A>G (p.Ala470=) c.1152A>G (p.Ala384=) c.180+98A>G c.*143A>G (n.*143A>G) c.1524A>G (p.Ala508=) | |
| 22 | g.50625265T>G | CA515391135 | ARSA | c.1410A>C (p.Ala470=) c.1152A>C (p.Ala384=) c.180+98A>C c.*143A>C (n.*143A>C) c.1524A>C (p.Ala508=) | |
| 22 | g.50625265T= | CA2410958396 | ARSA | c.1410A= (p.Ala470=) c.1152A= (p.Ala384=) c.180+98A= c.*143A= (n.*143A=) c.1524A= (p.Ala508=) | |
| 22 | g.50625266G>A | CA412167789 | ARSA | c.1409C>T (p.Ala470Val) c.1151C>T (p.Ala384Val) c.180+97C>T c.*142C>T (n.*142C>T) c.1523C>T (p.Ala508Val) | dbSNP gnomAD v4 |
| 22 | g.50625266G>C | CA412167794 | ARSA | c.1409C>G (p.Ala470Gly) c.1151C>G (p.Ala384Gly) c.180+97C>G c.*142C>G (n.*142C>G) c.1523C>G (p.Ala508Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50625266G= | CA2410958397 | ARSA | c.1409C= (p.Ala470=) c.1151C= (p.Ala384=) c.180+97C= c.*142C= (n.*142C=) c.1523C= (p.Ala508=) | |
| 22 | g.50625266G>T | CA412167799 | ARSA | c.1409C>A (p.Ala470Glu) c.1151C>A (p.Ala384Glu) c.180+97C>A c.*142C>A (n.*142C>A) c.1523C>A (p.Ala508Glu) | |
| 22 | g.50625267C>A | CA412167803 | ARSA | c.1408G>T (p.Ala470Ser) c.1150G>T (p.Ala384Ser) c.180+96G>T c.*141G>T (n.*141G>T) c.1522G>T (p.Ala508Ser) | |
| 22 | g.50625267C= | CA2410958398 | ARSA | c.1408G= (p.Ala470=) c.1150G= (p.Ala384=) c.180+96G= c.*141G= (n.*141G=) c.1522G= (p.Ala508=) | |
| 22 | g.50625267C>G | CA412167806 | ARSA | c.1408G>C (p.Ala470Pro) c.1150G>C (p.Ala384Pro) c.180+96G>C c.*141G>C (n.*141G>C) c.1522G>C (p.Ala508Pro) | |
| 22 | g.50625267C>T | CA10324733 | ARSA | c.1408G>A (p.Ala470Thr) c.1150G>A (p.Ala384Thr) c.180+96G>A c.*141G>A (n.*141G>A) c.1522G>A (p.Ala508Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.50625268G>A | CA10324734 | ARSA | c.1407C>T (p.Asp469=) c.1149C>T (p.Asp383=) c.180+95C>T c.*140C>T (n.*140C>T) c.1521C>T (p.Asp507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50625268G>C | CA412167822 | ARSA | c.1407C>G (p.Asp469Glu) c.1149C>G (p.Asp383Glu) c.180+95C>G c.*140C>G (n.*140C>G) c.1521C>G (p.Asp507Glu) | |
| 22 | g.50625268G= | CA2410958399 | ARSA | c.1407C= (p.Asp469=) c.1149C= (p.Asp383=) c.180+95C= c.*140C= (n.*140C=) c.1521C= (p.Asp507=) | |
| 22 | g.50625268G>T | CA412167826 | ARSA | c.1407C>A (p.Asp469Glu) c.1149C>A (p.Asp383Glu) c.180+95C>A c.*140C>A (n.*140C>A) c.1521C>A (p.Asp507Glu) | |
| 22 | g.50625269T>A | CA412167830 | ARSA | c.1406A>T (p.Asp469Val) c.1148A>T (p.Asp383Val) c.180+94A>T c.*139A>T (n.*139A>T) c.1520A>T (p.Asp507Val) | gnomAD v4 |
| 22 | g.50625269T>C | CA412167836 | ARSA | c.1406A>G (p.Asp469Gly) c.1148A>G (p.Asp383Gly) c.180+94A>G c.*139A>G (n.*139A>G) c.1520A>G (p.Asp507Gly) | gnomAD v4 |
| 22 | g.50625269T>G | CA412167848 | ARSA | c.1406A>C (p.Asp469Ala) c.1148A>C (p.Asp383Ala) c.180+94A>C c.*139A>C (n.*139A>C) c.1520A>C (p.Asp507Ala) | |
| 22 | g.50625270C>A | CA412167856 | ARSA | c.1405G>T (p.Asp469Tyr) c.1147G>T (p.Asp383Tyr) c.180+93G>T c.*138G>T (n.*138G>T) c.1519G>T (p.Asp507Tyr) | |
| 22 | g.50625270C>G | CA412167854 | ARSA | c.1405G>C (p.Asp469His) c.1147G>C (p.Asp383His) c.180+93G>C c.*138G>C (n.*138G>C) c.1519G>C (p.Asp507His) | |
| 22 | g.50625270C>T | CA412167853 | ARSA | c.1405G>A (p.Asp469Asn) c.1147G>A (p.Asp383Asn) c.180+93G>A c.*138G>A (n.*138G>A) c.1519G>A (p.Asp507Asn) | |
| 22 | g.50625271T>A | CA412167858 | ARSA | c.1404A>T (p.Leu468Phe) c.1146A>T (p.Leu382Phe) c.180+92A>T c.*137A>T (n.*137A>T) c.1518A>T (p.Leu506Phe) | |
| 22 | g.50625271T>C | CA515391143 | ARSA | c.1404A>G (p.Leu468=) c.1146A>G (p.Leu382=) c.180+92A>G c.*137A>G (n.*137A>G) c.1518A>G (p.Leu506=) | |
| 22 | g.50625271T>G | CA412167861 | ARSA | c.1404A>C (p.Leu468Phe) c.1146A>C (p.Leu382Phe) c.180+92A>C c.*137A>C (n.*137A>C) c.1518A>C (p.Leu506Phe) | |
| 22 | g.50625272A>C | CA412167866 | ARSA | c.1403T>G (p.Leu468Ter) c.1145T>G (p.Leu382Ter) c.180+91T>G c.*136T>G (n.*136T>G) c.1517T>G (p.Leu506Ter) | |
| 22 | g.50625272A>G | CA412167868 | ARSA | c.1403T>C (p.Leu468Ser) c.1145T>C (p.Leu382Ser) c.180+91T>C c.*136T>C (n.*136T>C) c.1517T>C (p.Leu506Ser) | |
| 22 | g.50625272A>T | CA412167872 | ARSA | c.1403T>A (p.Leu468Ter) c.1145T>A (p.Leu382Ter) c.180+91T>A c.*136T>A (n.*136T>A) c.1517T>A (p.Leu506Ter) | |
| 22 | g.50625273A>C | CA412167875 | ARSA | c.1402T>G (p.Leu468Val) c.1144T>G (p.Leu382Val) c.180+90T>G c.*135T>G (n.*135T>G) c.1516T>G (p.Leu506Val) | |
| 22 | g.50625273A>G | CA515391150 | ARSA | c.1402T>C (p.Leu468=) c.1144T>C (p.Leu382=) c.180+90T>C c.*135T>C (n.*135T>C) c.1516T>C (p.Leu506=) | |
| 22 | g.50625273A>T | CA412167878 | ARSA | c.1402T>A (p.Leu468Ile) c.1144T>A (p.Leu382Ile) c.180+90T>A c.*135T>A (n.*135T>A) c.1516T>A (p.Leu506Ile) | |
| 22 | g.50625274C>A | CA412167882 | ARSA | c.1401G>T (p.Gln467His) c.1143G>T (p.Gln381His) c.180+89G>T c.*134G>T (n.*134G>T) c.1515G>T (p.Gln505His) | |
| 22 | g.50625274C>G | CA412167886 | ARSA | c.1401G>C (p.Gln467His) c.1143G>C (p.Gln381His) c.180+89G>C c.*134G>C (n.*134G>C) c.1515G>C (p.Gln505His) | |
| 22 | g.50625274C>T | CA515391154 | ARSA | c.1401G>A (p.Gln467=) c.1143G>A (p.Gln381=) c.180+89G>A c.*134G>A (n.*134G>A) c.1515G>A (p.Gln505=) | gnomAD v4 |
| 22 | g.50625275T>A | CA412167891 | ARSA | c.1400A>T (p.Gln467Leu) c.1142A>T (p.Gln381Leu) c.180+88A>T c.*133A>T (n.*133A>T) c.1514A>T (p.Gln505Leu) | |
| 22 | g.50625275T>C | CA412167893 | ARSA | c.1400A>G (p.Gln467Arg) c.1142A>G (p.Gln381Arg) c.180+88A>G c.*133A>G (n.*133A>G) c.1514A>G (p.Gln505Arg) | |
| 22 | g.50625275T>G | CA412167896 | ARSA | c.1400A>C (p.Gln467Pro) c.1142A>C (p.Gln381Pro) c.180+88A>C c.*133A>C (n.*133A>C) c.1514A>C (p.Gln505Pro) | ClinVar |
| 22 | g.50625276G>A | CA412167900 | ARSA | c.1399C>T (p.Gln467Ter) c.1141C>T (p.Gln381Ter) c.180+87C>T c.*132C>T (n.*132C>T) c.1513C>T (p.Gln505Ter) | ClinVar gnomAD v4 |
| 22 | g.50625276G>C | CA412167902 | ARSA | c.1399C>G (p.Gln467Glu) c.1141C>G (p.Gln381Glu) c.180+87C>G c.*132C>G (n.*132C>G) c.1513C>G (p.Gln505Glu) | |
| 22 | g.50625276G>T | CA412167904 | ARSA | c.1399C>A (p.Gln467Lys) c.1141C>A (p.Gln381Lys) c.180+87C>A c.*132C>A (n.*132C>A) c.1513C>A (p.Gln505Lys) | |
| 22 | g.50625277G>A | CA515391167 | ARSA | c.1398C>T (p.Ala466=) c.1140C>T (p.Ala380=) c.180+86C>T c.*131C>T (n.*131C>T) c.1512C>T (p.Ala504=) | ClinVar dbSNP |
| 22 | g.50625277G>C | CA515391168 | ARSA | c.1398C>G (p.Ala466=) c.1140C>G (p.Ala380=) c.180+86C>G c.*131C>G (n.*131C>G) c.1512C>G (p.Ala504=) | |
| 22 | g.50625277G= | CA2410958400 | ARSA | c.1398C= (p.Ala466=) c.1140C= (p.Ala380=) c.180+86C= c.*131C= (n.*131C=) c.1512C= (p.Ala504=) | |
| 22 | g.50625277G>T | CA515391169 | ARSA | c.1398C>A (p.Ala466=) c.1140C>A (p.Ala380=) c.180+86C>A c.*131C>A (n.*131C>A) c.1512C>A (p.Ala504=) | |
| 22 | g.50625278G>A | CA10324735 | ARSA | c.1397C>T (p.Ala466Val) c.1139C>T (p.Ala380Val) c.180+85C>T c.*130C>T (n.*130C>T) c.1511C>T (p.Ala504Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.50625278G>C | CA412167908 | ARSA | c.1397C>G (p.Ala466Gly) c.1139C>G (p.Ala380Gly) c.180+85C>G c.*130C>G (n.*130C>G) c.1511C>G (p.Ala504Gly) | |
| 22 | g.50625278G= | CA2410958401 | ARSA | c.1397C= (p.Ala466=) c.1139C= (p.Ala380=) c.180+85C= c.*130C= (n.*130C=) c.1511C= (p.Ala504=) | |
| 22 | g.50625278G>T | CA412167907 | ARSA | c.1397C>A (p.Ala466Asp) c.1139C>A (p.Ala380Asp) c.180+85C>A c.*130C>A (n.*130C>A) c.1511C>A (p.Ala504Asp) | |
| 22 | g.50625279C>A | CA412167912 | ARSA | c.1396G>T (p.Ala466Ser) c.1138G>T (p.Ala380Ser) c.180+84G>T c.*129G>T (n.*129G>T) c.1510G>T (p.Ala504Ser) | |
| 22 | g.50625279C>G | CA412167913 | ARSA | c.1396G>C (p.Ala466Pro) c.1138G>C (p.Ala380Pro) c.180+84G>C c.*129G>C (n.*129G>C) c.1510G>C (p.Ala504Pro) | |
| 22 | g.50625279C>T | CA412167915 | ARSA | c.1396G>A (p.Ala466Thr) c.1138G>A (p.Ala380Thr) c.180+84G>A c.*129G>A (n.*129G>A) c.1510G>A (p.Ala504Thr) | |
| 22 | g.50625280C>A | CA412167919 | ARSA | c.1395G>T (p.Lys465Asn) c.1137G>T (p.Lys379Asn) c.180+83G>T c.*128G>T (n.*128G>T) c.1509G>T (p.Lys503Asn) | |
| 22 | g.50625280C>G | CA412167922 | ARSA | c.1395G>C (p.Lys465Asn) c.1137G>C (p.Lys379Asn) c.180+83G>C c.*128G>C (n.*128G>C) c.1509G>C (p.Lys503Asn) | |
| 22 | g.50625280C>T | CA515391179 | ARSA | c.1395G>A (p.Lys465=) c.1137G>A (p.Lys379=) c.180+83G>A c.*128G>A (n.*128G>A) c.1509G>A (p.Lys503=) | |
| 22 | g.50625281T>A | CA412167927 | ARSA | c.1394A>T (p.Lys465Met) c.1136A>T (p.Lys379Met) c.180+82A>T c.*127A>T (n.*127A>T) c.1508A>T (p.Lys503Met) | |
| 22 | g.50625281T>C | CA412167930 | ARSA | c.1394A>G (p.Lys465Arg) c.1136A>G (p.Lys379Arg) c.180+82A>G c.*127A>G (n.*127A>G) c.1508A>G (p.Lys503Arg) | |
| 22 | g.50625281T>G | CA412167932 | ARSA | c.1394A>C (p.Lys465Thr) c.1136A>C (p.Lys379Thr) c.180+82A>C c.*127A>C (n.*127A>C) c.1508A>C (p.Lys503Thr) | |
| 22 | g.50625282T>A | CA412167937 | ARSA | c.1393A>T (p.Lys465Ter) c.1135A>T (p.Lys379Ter) c.180+81A>T c.*126A>T (n.*126A>T) c.1507A>T (p.Lys503Ter) | |
| 22 | g.50625282T>C | CA412167940 | ARSA | c.1393A>G (p.Lys465Glu) c.1135A>G (p.Lys379Glu) c.180+81A>G c.*126A>G (n.*126A>G) c.1507A>G (p.Lys503Glu) | |
| 22 | g.50625282T>G | CA412167944 | ARSA | c.1393A>C (p.Lys465Gln) c.1135A>C (p.Lys379Gln) c.180+81A>C c.*126A>C (n.*126A>C) c.1507A>C (p.Lys503Gln) | |
| 22 | g.50625283G>A | CA515391194 | ARSA | c.1392C>T (p.Leu464=) c.1134C>T (p.Leu378=) c.180+80C>T c.*125C>T (n.*125C>T) c.1506C>T (p.Leu502=) | |
| 22 | g.50625283G>C | CA515391191 | ARSA | c.1392C>G (p.Leu464=) c.1134C>G (p.Leu378=) c.180+80C>G c.*125C>G (n.*125C>G) c.1506C>G (p.Leu502=) | |
| 22 | g.50625283G>T | CA515391193 | ARSA | c.1392C>A (p.Leu464=) c.1134C>A (p.Leu378=) c.180+80C>A c.*125C>A (n.*125C>A) c.1506C>A (p.Leu502=) | |
| 22 | g.50625284A= | CA2410958402 | ARSA | c.1391T= (p.Leu464=) c.1133T= (p.Leu378=) c.180+79T= c.*124T= (n.*124T=) c.1505T= (p.Leu502=) | |
| 22 | g.50625284A>C | CA412167947 | ARSA | c.1391T>G (p.Leu464Arg) c.1133T>G (p.Leu378Arg) c.180+79T>G c.*124T>G (n.*124T>G) c.1505T>G (p.Leu502Arg) | |
| 22 | g.50625284A>G | CA412167951 | ARSA | c.1391T>C (p.Leu464Pro) c.1133T>C (p.Leu378Pro) c.180+79T>C c.*124T>C (n.*124T>C) c.1505T>C (p.Leu502Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50625284A>T | CA412167954 | ARSA | c.1391T>A (p.Leu464His) c.1133T>A (p.Leu378His) c.180+79T>A c.*124T>A (n.*124T>A) c.1505T>A (p.Leu502His) | |
| 22 | g.50625285G>A | CA412167960 | ARSA | c.1390C>T (p.Leu464Phe) c.1132C>T (p.Leu378Phe) c.180+78C>T c.*123C>T (n.*123C>T) c.1504C>T (p.Leu502Phe) | ClinVar dbSNP |
| 22 | g.50625285G>C | CA412167964 | ARSA | c.1390C>G (p.Leu464Val) c.1132C>G (p.Leu378Val) c.180+78C>G c.*123C>G (n.*123C>G) c.1504C>G (p.Leu502Val) | |
| 22 | g.50625285G>T | CA412167958 | ARSA | c.1390C>A (p.Leu464Ile) c.1132C>A (p.Leu378Ile) c.180+78C>A c.*123C>A (n.*123C>A) c.1504C>A (p.Leu502Ile) | |
| 22 | g.50625286C>A | CA515391197 | ARSA | c.1389G>T (p.Leu463=) c.1131G>T (p.Leu377=) c.180+77G>T c.*122G>T (n.*122G>T) c.1503G>T (p.Leu501=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50625286C>G | CA515391198 | ARSA | c.1389G>C (p.Leu463=) c.1131G>C (p.Leu377=) c.180+77G>C c.*122G>C (n.*122G>C) c.1503G>C (p.Leu501=) | |
| 22 | g.50625286C>T | CA515391199 | ARSA | c.1389G>A (p.Leu463=) c.1131G>A (p.Leu377=) c.180+77G>A c.*122G>A (n.*122G>A) c.1503G>A (p.Leu501=) | gnomAD v4 |
| 22 | g.50625286_50625287delinsCA | CA2410958403 | ARSA | c.1388_1389delinsTG (p.Leu463=) c.1130_1131delinsTG (p.Leu377=) c.180+76_180+77delinsTG c.*121_*122delinsTG (n.*121_*122delinsTG) c.1502_1503delinsTG (p.Leu501=) | |
| 22 | g.50625287del | CA16042033 | ARSA | c.1388del (p.Leu463ArgfsTer6) c.1130del (p.Leu377ArgfsTer6) c.180+76del c.*121del (n.*121del) c.1502del (p.Leu501ArgfsTer6) | ClinVar dbSNP |
| 22 | g.50625287A>C | CA412167971 | ARSA | c.1388T>G (p.Leu463Arg) c.1130T>G (p.Leu377Arg) c.180+76T>G c.*121T>G (n.*121T>G) c.1502T>G (p.Leu501Arg) | |
| 22 | g.50625287A>G | CA412167975 | ARSA | c.1388T>C (p.Leu463Pro) c.1130T>C (p.Leu377Pro) c.180+76T>C c.*121T>C (n.*121T>C) c.1502T>C (p.Leu501Pro) | |
| 22 | g.50625287A>T | CA412167980 | ARSA | c.1388T>A (p.Leu463Gln) c.1130T>A (p.Leu377Gln) c.180+76T>A c.*121T>A (n.*121T>A) c.1502T>A (p.Leu501Gln) | |
| 22 | g.50625288G>A | CA515391203 | ARSA | c.1387C>T (p.Leu463=) c.1129C>T (p.Leu377=) c.180+75C>T c.*120C>T (n.*120C>T) c.1501C>T (p.Leu501=) | ClinVar |
| 22 | g.50625288G>C | CA412167985 | ARSA | c.1387C>G (p.Leu463Val) c.1129C>G (p.Leu377Val) c.180+75C>G c.*120C>G (n.*120C>G) c.1501C>G (p.Leu501Val) | |
| 22 | g.50625288G>T | CA412167988 | ARSA | c.1387C>A (p.Leu463Met) c.1129C>A (p.Leu377Met) c.180+75C>A c.*120C>A (n.*120C>A) c.1501C>A (p.Leu501Met) | |
| 22 | g.50625289C>A | CA412167995 | ARSA | c.1386G>T (p.Gln462His) c.1128G>T (p.Gln376His) c.180+74G>T c.*119G>T (n.*119G>T) c.1500G>T (p.Gln500His) | |
| 22 | g.50625289C>G | CA412167993 | ARSA | c.1386G>C (p.Gln462His) c.1128G>C (p.Gln376His) c.180+74G>C c.*119G>C (n.*119G>C) c.1500G>C (p.Gln500His) | gnomAD v4 |
| 22 | g.50625289C>T | CA515391206 | ARSA | c.1386G>A (p.Gln462=) c.1128G>A (p.Gln376=) c.180+74G>A c.*119G>A (n.*119G>A) c.1500G>A (p.Gln500=) | |
| 22 | g.50625290T>A | CA412168000 | ARSA | c.1385A>T (p.Gln462Leu) c.1127A>T (p.Gln376Leu) c.180+73A>T c.*118A>T (n.*118A>T) c.1499A>T (p.Gln500Leu) | |
| 22 | g.50625290T>C | CA412168003 | ARSA | c.1385A>G (p.Gln462Arg) c.1127A>G (p.Gln376Arg) c.180+73A>G c.*118A>G (n.*118A>G) c.1499A>G (p.Gln500Arg) | ClinVar dbSNP |
| 22 | g.50625290T>G | CA412168007 | ARSA | c.1385A>C (p.Gln462Pro) c.1127A>C (p.Gln376Pro) c.180+73A>C c.*118A>C (n.*118A>C) c.1499A>C (p.Gln500Pro) | |
| 22 | g.50625291G>A | CA10324736 | ARSA | c.1384C>T (p.Gln462Ter) c.1126C>T (p.Gln376Ter) c.180+72C>T c.*117C>T (n.*117C>T) c.1498C>T (p.Gln500Ter) | dbSNP ExAC gnomAD v2 |
| 22 | g.50625291G>C | CA412168027 | ARSA | c.1384C>G (p.Gln462Glu) c.1126C>G (p.Gln376Glu) c.180+72C>G c.*117C>G (n.*117C>G) c.1498C>G (p.Gln500Glu) | |
| 22 | g.50625291G= | CA2410958404 | ARSA | c.1384C= (p.Gln462=) c.1126C= (p.Gln376=) c.180+72C= c.*117C= (n.*117C=) c.1498C= (p.Gln500=) | |
| 22 | g.50625291G>T | CA412168032 | ARSA | c.1384C>A (p.Gln462Lys) c.1126C>A (p.Gln376Lys) c.180+72C>A c.*117C>A (n.*117C>A) c.1498C>A (p.Gln500Lys) | |
| 22 | g.50625292A>C | CA515391217 | ARSA | c.1383T>G (p.Leu461=) c.1125T>G (p.Leu375=) c.180+71T>G c.*116T>G (n.*116T>G) c.1497T>G (p.Leu499=) | |
| 22 | g.50625292A>G | CA515391218 | ARSA | c.1383T>C (p.Leu461=) c.1125T>C (p.Leu375=) c.180+71T>C c.*116T>C (n.*116T>C) c.1497T>C (p.Leu499=) | |
| 22 | g.50625292A>T | CA515391219 | ARSA | c.1383T>A (p.Leu461=) c.1125T>A (p.Leu375=) c.180+71T>A c.*116T>A (n.*116T>A) c.1497T>A (p.Leu499=) |