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 |
|---|---|---|---|---|---|
| 11 | g.59153274T>A | CA380789248 | FAM111A | c.1606T>A (p.Phe536Ile) c.1486T>A (p.Phe496Ile) | |
| 11 | g.59153274T>C | CA380789249 | FAM111A | c.1606T>C (p.Phe536Leu) c.1486T>C (p.Phe496Leu) | |
| 11 | g.59153274T>G | CA380789252 | FAM111A | c.1606T>G (p.Phe536Val) c.1486T>G (p.Phe496Val) | gnomAD v4 |
| 11 | g.59153275T>A | CA380789270 | FAM111A | c.1607T>A (p.Phe536Tyr) c.1487T>A (p.Phe496Tyr) | |
| 11 | g.59153275T>C | CA380789264 | FAM111A | c.1607T>C (p.Phe536Ser) c.1487T>C (p.Phe496Ser) | |
| 11 | g.59153275T>G | CA380789267 | FAM111A | c.1607T>G (p.Phe536Cys) c.1487T>G (p.Phe496Cys) | |
| 11 | g.59153276T>A | CA380789273 | FAM111A | c.1608T>A (p.Phe536Leu) c.1488T>A (p.Phe496Leu) | ClinVar gnomAD v4 |
| 11 | g.59153276T>C | CA474820240 | FAM111A | c.1608T>C (p.Phe536=) c.1488T>C (p.Phe496=) | COSMIC |
| 11 | g.59153276T>G | CA380789277 | FAM111A | c.1608T>G (p.Phe536Leu) c.1488T>G (p.Phe496Leu) | |
| 11 | g.59153277T>A | CA380789280 | FAM111A | c.1609T>A (p.Phe537Ile) c.1489T>A (p.Phe497Ile) | |
| 11 | g.59153277T>C | CA380789283 | FAM111A | c.1609T>C (p.Phe537Leu) c.1489T>C (p.Phe497Leu) | |
| 11 | g.59153277T>G | CA380789285 | FAM111A | c.1609T>G (p.Phe537Val) c.1489T>G (p.Phe497Val) | |
| 11 | g.59153277T= | CA1976277142 | FAM111A | c.1609T= (p.Phe537=) c.1489T= (p.Phe497=) | |
| 11 | g.59153278T>A | CA380789292 | FAM111A | c.1610T>A (p.Phe537Tyr) c.1490T>A (p.Phe497Tyr) | |
| 11 | g.59153278T>C | CA380789294 | FAM111A | c.1610T>C (p.Phe537Ser) c.1490T>C (p.Phe497Ser) | |
| 11 | g.59153278T>G | CA380789297 | FAM111A | c.1610T>G (p.Phe537Cys) c.1490T>G (p.Phe497Cys) | |
| 11 | g.59153279_59153280dup | CA6016794 | FAM111A | c.1611_1612dup (p.Phe538SerfsTer?) c.1491_1492dup (p.Phe498SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153279del | CA2613671085 | FAM111A | c.1611del (p.Phe538LeufsTer?) c.1491del (p.Phe498LeufsTer?) | gnomAD v4 |
| 11 | g.59153279C>A | CA380789301 | FAM111A | c.1611C>A (p.Phe537Leu) c.1491C>A (p.Phe497Leu) | |
| 11 | g.59153279C>G | CA380789303 | FAM111A | c.1611C>G (p.Phe537Leu) c.1491C>G (p.Phe497Leu) | |
| 11 | g.59153279C>T | CA474820248 | FAM111A | c.1611C>T (p.Phe537=) c.1491C>T (p.Phe497=) | |
| 11 | g.59153280T>A | CA380789311 | FAM111A | c.1612T>A (p.Phe538Ile) c.1492T>A (p.Phe498Ile) | |
| 11 | g.59153280T>C | CA380789309 | FAM111A | c.1612T>C (p.Phe538Leu) c.1492T>C (p.Phe498Leu) | gnomAD v4 |
| 11 | g.59153280T>G | CA380789306 | FAM111A | c.1612T>G (p.Phe538Val) c.1492T>G (p.Phe498Val) | |
| 11 | g.59153281T>A | CA380789314 | FAM111A | c.1613T>A (p.Phe538Tyr) c.1493T>A (p.Phe498Tyr) | |
| 11 | g.59153281T>C | CA380789317 | FAM111A | c.1613T>C (p.Phe538Ser) c.1493T>C (p.Phe498Ser) | |
| 11 | g.59153281T>G | CA380789321 | FAM111A | c.1613T>G (p.Phe538Cys) c.1493T>G (p.Phe498Cys) | |
| 11 | g.59153282T>A | CA380789323 | FAM111A | c.1614T>A (p.Phe538Leu) c.1494T>A (p.Phe498Leu) | |
| 11 | g.59153282T>C | CA474820253 | FAM111A | c.1614T>C (p.Phe538=) c.1494T>C (p.Phe498=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153282T>G | CA380789326 | FAM111A | c.1614T>G (p.Phe538Leu) c.1494T>G (p.Phe498Leu) | |
| 11 | g.59153282T= | CA1976277147 | FAM111A | c.1614T= (p.Phe538=) c.1494T= (p.Phe498=) | |
| 11 | g.59153283G>A | CA380789335 | FAM111A | c.1615G>A (p.Gly539Arg) c.1495G>A (p.Gly499Arg) | |
| 11 | g.59153283G>C | CA380789332 | FAM111A | c.1615G>C (p.Gly539Arg) c.1495G>C (p.Gly499Arg) | |
| 11 | g.59153283G>T | CA380789331 | FAM111A | c.1615G>T (p.Gly539Trp) c.1495G>T (p.Gly499Trp) | |
| 11 | g.59153283_59153284insAGTATACATATGGACATACTCT | CA2505695159 | FAM111A | c.1615_1616insAGTATACATATGGACATACTCT (p.Gly539GlufsTer16) c.1495_1496insAGTATACATATGGACATACTCT (p.Gly499GlufsTer16) | |
| 11 | g.59153284G>A | CA380789339 | FAM111A | c.1616G>A (p.Gly539Glu) c.1496G>A (p.Gly499Glu) | COSMIC |
| 11 | g.59153284G>C | CA380789342 | FAM111A | c.1616G>C (p.Gly539Ala) c.1496G>C (p.Gly499Ala) | |
| 11 | g.59153284G>T | CA380789345 | FAM111A | c.1616G>T (p.Gly539Val) c.1496G>T (p.Gly499Val) | |
| 11 | g.59153285G>A | CA474820260 | FAM111A | c.1617G>A (p.Gly539=) c.1497G>A (p.Gly499=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153285G>C | CA474820263 | FAM111A | c.1617G>C (p.Gly539=) c.1497G>C (p.Gly499=) | |
| 11 | g.59153285G= | CA1976277152 | FAM111A | c.1617G= (p.Gly539=) c.1497G= (p.Gly499=) | |
| 11 | g.59153285G>T | CA474820264 | FAM111A | c.1617G>T (p.Gly539=) c.1497G>T (p.Gly499=) | dbSNP |
| 11 | g.59153286G>A | CA380789349 | FAM111A | c.1618G>A (p.Ala540Thr) c.1498G>A (p.Ala500Thr) | |
| 11 | g.59153286G>C | CA380789352 | FAM111A | c.1618G>C (p.Ala540Pro) c.1498G>C (p.Ala500Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153286G= | CA1976277154 | FAM111A | c.1618G= (p.Ala540=) c.1498G= (p.Ala500=) | |
| 11 | g.59153286G>T | CA380789353 | FAM111A | c.1618G>T (p.Ala540Ser) c.1498G>T (p.Ala500Ser) | |
| 11 | g.59153287C>A | CA380789355 | FAM111A | c.1619C>A (p.Ala540Asp) c.1499C>A (p.Ala500Asp) | dbSNP gnomAD v4 |
| 11 | g.59153287C= | CA1976277157 | FAM111A | c.1619C= (p.Ala540=) c.1499C= (p.Ala500=) | |
| 11 | g.59153287C>G | CA380789360 | FAM111A | c.1619C>G (p.Ala540Gly) c.1499C>G (p.Ala500Gly) | |
| 11 | g.59153287C>T | CA6016796 | FAM111A | c.1619C>T (p.Ala540Val) c.1499C>T (p.Ala500Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153287_59153288delinsCT | CA1976277159 | FAM111A | c.1619_1620delinsCT (p.Ala540=) c.1499_1500delinsCT (p.Ala500=) | |
| 11 | g.59153288T>A | CA474820269 | FAM111A | c.1620T>A (p.Ala540=) c.1500T>A (p.Ala500=) | |
| 11 | g.59153288T>C | CA474820270 | FAM111A | c.1620T>C (p.Ala540=) c.1500T>C (p.Ala500=) | |
| 11 | g.59153288T>G | CA474820271 | FAM111A | c.1620T>G (p.Ala540=) c.1500T>G (p.Ala500=) | |
| 11 | g.59153289del | CA6016795 | FAM111A | c.1621del (p.Ser541ProfsTer?) c.1501del (p.Ser501ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153289T>A | CA380789366 | FAM111A | c.1621T>A (p.Ser541Thr) c.1501T>A (p.Ser501Thr) | |
| 11 | g.59153289T>C | CA380789369 | FAM111A | c.1621T>C (p.Ser541Pro) c.1501T>C (p.Ser501Pro) | |
| 11 | g.59153289T>G | CA380789371 | FAM111A | c.1621T>G (p.Ser541Ala) c.1501T>G (p.Ser501Ala) | |
| 11 | g.59153290C>A | CA380789374 | FAM111A | c.1622C>A (p.Ser541Tyr) c.1502C>A (p.Ser501Tyr) | |
| 11 | g.59153290C>G | CA380789377 | FAM111A | c.1622C>G (p.Ser541Cys) c.1502C>G (p.Ser501Cys) | |
| 11 | g.59153290C>T | CA380789378 | FAM111A | c.1622C>T (p.Ser541Phe) c.1502C>T (p.Ser501Phe) | |
| 11 | g.59153291C>A | CA474820279 | FAM111A | c.1623C>A (p.Ser541=) c.1503C>A (p.Ser501=) | ClinVar dbSNP |
| 11 | g.59153291C= | CA1976277168 | FAM111A | c.1623C= (p.Ser541=) c.1503C= (p.Ser501=) | |
| 11 | g.59153291C>G | CA6016798 | FAM111A | c.1623C>G (p.Ser541=) c.1503C>G (p.Ser501=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153291C>T | CA6016797 | FAM111A | c.1623C>T (p.Ser541=) c.1503C>T (p.Ser501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153292G>A | CA6016799 | FAM111A | c.1624G>A (p.Gly542Ser) c.1504G>A (p.Gly502Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.59153292G>C | CA380789389 | FAM111A | c.1624G>C (p.Gly542Arg) c.1504G>C (p.Gly502Arg) | |
| 11 | g.59153292G= | CA1976277172 | FAM111A | c.1624G= (p.Gly542=) c.1504G= (p.Gly502=) | |
| 11 | g.59153292G>T | CA380789391 | FAM111A | c.1624G>T (p.Gly542Cys) c.1504G>T (p.Gly502Cys) | |
| 11 | g.59153293del | CA2574831654 | FAM111A | c.1625del (p.Gly542AlafsTer?) c.1505del (p.Gly502AlafsTer?) | |
| 11 | g.59153293G>A | CA6016800 | FAM111A | c.1625G>A (p.Gly542Asp) c.1505G>A (p.Gly502Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153293G>C | CA380789397 | FAM111A | c.1625G>C (p.Gly542Ala) c.1505G>C (p.Gly502Ala) | |
| 11 | g.59153293G= | CA1976277178 | FAM111A | c.1625G= (p.Gly542=) c.1505G= (p.Gly502=) | |
| 11 | g.59153293G>T | CA380789395 | FAM111A | c.1625G>T (p.Gly542Val) c.1505G>T (p.Gly502Val) | |
| 11 | g.59153294C>A | CA6016801 | FAM111A | c.1626C>A (p.Gly542=) c.1506C>A (p.Gly502=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153294C= | CA1976277181 | FAM111A | c.1626C= (p.Gly542=) c.1506C= (p.Gly502=) | |
| 11 | g.59153294C>G | CA474820283 | FAM111A | c.1626C>G (p.Gly542=) c.1506C>G (p.Gly502=) | gnomAD v4 |
| 11 | g.59153294C>T | CA474820284 | FAM111A | c.1626C>T (p.Gly542=) c.1506C>T (p.Gly502=) | |
| 11 | g.59153295T>A | CA380789400 | FAM111A | c.1627T>A (p.Ser543Thr) c.1507T>A (p.Ser503Thr) | |
| 11 | g.59153295T>C | CA380789403 | FAM111A | c.1627T>C (p.Ser543Pro) c.1507T>C (p.Ser503Pro) | gnomAD v4 |
| 11 | g.59153295T>G | CA380789402 | FAM111A | c.1627T>G (p.Ser543Ala) c.1507T>G (p.Ser503Ala) | |
| 11 | g.59153296C>A | CA6016803 | FAM111A | c.1628C>A (p.Ser543Tyr) c.1508C>A (p.Ser503Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153296C= | CA1976277183 | FAM111A | c.1628C= (p.Ser543=) c.1508C= (p.Ser503=) | |
| 11 | g.59153296C>G | CA380789405 | FAM111A | c.1628C>G (p.Ser543Cys) c.1508C>G (p.Ser503Cys) | |
| 11 | g.59153296C>T | CA6016802 | FAM111A | c.1628C>T (p.Ser543Phe) c.1508C>T (p.Ser503Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153297C>A | CA474820293 | FAM111A | c.1629C>A (p.Ser543=) c.1509C>A (p.Ser503=) | |
| 11 | g.59153297C= | CA1976277188 | FAM111A | c.1629C= (p.Ser543=) c.1509C= (p.Ser503=) | |
| 11 | g.59153297C>G | CA474820296 | FAM111A | c.1629C>G (p.Ser543=) c.1509C>G (p.Ser503=) | |
| 11 | g.59153297C>T | CA6016804 | FAM111A | c.1629C>T (p.Ser543=) c.1509C>T (p.Ser503=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153298C>A | CA380789407 | FAM111A | c.1630C>A (p.Pro544Thr) c.1510C>A (p.Pro504Thr) | |
| 11 | g.59153298C>G | CA380789408 | FAM111A | c.1630C>G (p.Pro544Ala) c.1510C>G (p.Pro504Ala) | |
| 11 | g.59153298C>T | CA380789409 | FAM111A | c.1630C>T (p.Pro544Ser) c.1510C>T (p.Pro504Ser) | |
| 11 | g.59153299C>A | CA380789410 | FAM111A | c.1631C>A (p.Pro544His) c.1511C>A (p.Pro504His) | COSMIC |
| 11 | g.59153299C>G | CA380789412 | FAM111A | c.1631C>G (p.Pro544Arg) c.1511C>G (p.Pro504Arg) | |
| 11 | g.59153299C>T | CA380789414 | FAM111A | c.1631C>T (p.Pro544Leu) c.1511C>T (p.Pro504Leu) | gnomAD v4 |
| 11 | g.59153300del | CA2574831655 | FAM111A | c.1632del (p.Val545CysfsTer?) c.1512del (p.Val505CysfsTer?) | |
| 11 | g.59153300T>A | CA474820298 | FAM111A | c.1632T>A (p.Pro544=) c.1512T>A (p.Pro504=) | |
| 11 | g.59153300T>C | CA474820299 | FAM111A | c.1632T>C (p.Pro544=) c.1512T>C (p.Pro504=) | |
| 11 | g.59153300T>G | CA474820301 | FAM111A | c.1632T>G (p.Pro544=) c.1512T>G (p.Pro504=) | |
| 11 | g.59153301G>A | CA6016805 | FAM111A | c.1633G>A (p.Val545Met) c.1513G>A (p.Val505Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153301G>C | CA380789416 | FAM111A | c.1633G>C (p.Val545Leu) c.1513G>C (p.Val505Leu) | |
| 11 | g.59153301G= | CA1976277193 | FAM111A | c.1633G= (p.Val545=) c.1513G= (p.Val505=) | |
| 11 | g.59153301G>T | CA380789419 | FAM111A | c.1633G>T (p.Val545Leu) c.1513G>T (p.Val505Leu) | |
| 11 | g.59153302T>A | CA380789421 | FAM111A | c.1634T>A (p.Val545Glu) c.1514T>A (p.Val505Glu) | |
| 11 | g.59153302T>C | CA380789425 | FAM111A | c.1634T>C (p.Val545Ala) c.1514T>C (p.Val505Ala) | gnomAD v4 |
| 11 | g.59153302T>G | CA380789423 | FAM111A | c.1634T>G (p.Val545Gly) c.1514T>G (p.Val505Gly) | |
| 11 | g.59153303G>A | CA6016806 | FAM111A | c.1635G>A (p.Val545=) c.1515G>A (p.Val505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153303G>C | CA474820309 | FAM111A | c.1635G>C (p.Val545=) c.1515G>C (p.Val505=) | |
| 11 | g.59153303G= | CA1976277197 | FAM111A | c.1635G= (p.Val545=) c.1515G= (p.Val505=) | |
| 11 | g.59153303G>T | CA474820311 | FAM111A | c.1635G>T (p.Val545=) c.1515G>T (p.Val505=) | |
| 11 | g.59153304T>A | CA380789428 | FAM111A | c.1636T>A (p.Phe546Ile) c.1516T>A (p.Phe506Ile) | |
| 11 | g.59153304T>C | CA380789430 | FAM111A | c.1636T>C (p.Phe546Leu) c.1516T>C (p.Phe506Leu) | |
| 11 | g.59153304T>G | CA380789431 | FAM111A | c.1636T>G (p.Phe546Val) c.1516T>G (p.Phe506Val) | |
| 11 | g.59153305T>A | CA380789434 | FAM111A | c.1637T>A (p.Phe546Tyr) c.1517T>A (p.Phe506Tyr) | gnomAD v4 |
| 11 | g.59153305T>C | CA380789436 | FAM111A | c.1637T>C (p.Phe546Ser) c.1517T>C (p.Phe506Ser) | |
| 11 | g.59153305T>G | CA380789437 | FAM111A | c.1637T>G (p.Phe546Cys) c.1517T>G (p.Phe506Cys) | |
| 11 | g.59153306T>A | CA380789441 | FAM111A | c.1638T>A (p.Phe546Leu) c.1518T>A (p.Phe506Leu) | |
| 11 | g.59153306T>C | CA474820315 | FAM111A | c.1638T>C (p.Phe546=) c.1518T>C (p.Phe506=) | |
| 11 | g.59153306T>G | CA380789445 | FAM111A | c.1638T>G (p.Phe546Leu) c.1518T>G (p.Phe506Leu) | |
| 11 | g.59153307G>A | CA6016807 | FAM111A | c.1639G>A (p.Asp547Asn) c.1519G>A (p.Asp507Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153307G>C | CA380789451 | FAM111A | c.1639G>C (p.Asp547His) c.1519G>C (p.Asp507His) | gnomAD v4 |
| 11 | g.59153307G= | CA1976277200 | FAM111A | c.1639G= (p.Asp547=) c.1519G= (p.Asp507=) | |
| 11 | g.59153307G>T | CA380789449 | FAM111A | c.1639G>T (p.Asp547Tyr) c.1519G>T (p.Asp507Tyr) | ClinVar dbSNP |
| 11 | g.59153308A>C | CA380789459 | FAM111A | c.1640A>C (p.Asp547Ala) c.1520A>C (p.Asp507Ala) | |
| 11 | g.59153308A>G | CA380789461 | FAM111A | c.1640A>G (p.Asp547Gly) c.1520A>G (p.Asp507Gly) | gnomAD v4 |
| 11 | g.59153308A>T | CA380789464 | FAM111A | c.1640A>T (p.Asp547Val) c.1520A>T (p.Asp507Val) | |
| 11 | g.59153309T>A | CA380789466 | FAM111A | c.1641T>A (p.Asp547Glu) c.1521T>A (p.Asp507Glu) | |
| 11 | g.59153309T>C | CA474820321 | FAM111A | c.1641T>C (p.Asp547=) c.1521T>C (p.Asp507=) | |
| 11 | g.59153309T>G | CA380789470 | FAM111A | c.1641T>G (p.Asp547Glu) c.1521T>G (p.Asp507Glu) | |
| 11 | g.59153310T>A | CA380789478 | FAM111A | c.1642T>A (p.Ser548Thr) c.1522T>A (p.Ser508Thr) | |
| 11 | g.59153310T>C | CA380789476 | FAM111A | c.1642T>C (p.Ser548Pro) c.1522T>C (p.Ser508Pro) | |
| 11 | g.59153310T>G | CA380789473 | FAM111A | c.1642T>G (p.Ser548Ala) c.1522T>G (p.Ser508Ala) | |
| 11 | g.59153311C>A | CA380789481 | FAM111A | c.1643C>A (p.Ser548Ter) c.1523C>A (p.Ser508Ter) | COSMIC |
| 11 | g.59153311C= | CA1976277204 | FAM111A | c.1643C= (p.Ser548=) c.1523C= (p.Ser508=) | |
| 11 | g.59153311C>G | CA380789483 | FAM111A | c.1643C>G (p.Ser548Ter) c.1523C>G (p.Ser508Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59153311C>T | CA380789485 | FAM111A | c.1643C>T (p.Ser548Leu) c.1523C>T (p.Ser508Leu) | |
| 11 | g.59153312A>C | CA474820327 | FAM111A | c.1644A>C (p.Ser548=) c.1524A>C (p.Ser508=) | |
| 11 | g.59153312A>G | CA474820326 | FAM111A | c.1644A>G (p.Ser548=) c.1524A>G (p.Ser508=) | |
| 11 | g.59153312A>T | CA474820328 | FAM111A | c.1644A>T (p.Ser548=) c.1524A>T (p.Ser508=) | |
| 11 | g.59153313A= | CA1976277208 | FAM111A | c.1645A= (p.Lys549=) c.1525A= (p.Lys509=) | |
| 11 | g.59153313A>C | CA380789488 | FAM111A | c.1645A>C (p.Lys549Gln) c.1525A>C (p.Lys509Gln) | |
| 11 | g.59153313A>G | CA6016808 | FAM111A | c.1645A>G (p.Lys549Glu) c.1525A>G (p.Lys509Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153313A>T | CA380789493 | FAM111A | c.1645A>T (p.Lys549Ter) c.1525A>T (p.Lys509Ter) | |
| 11 | g.59153314A>C | CA380789497 | FAM111A | c.1646A>C (p.Lys549Thr) c.1526A>C (p.Lys509Thr) | gnomAD v4 |
| 11 | g.59153314A>G | CA380789502 | FAM111A | c.1646A>G (p.Lys549Arg) c.1526A>G (p.Lys509Arg) | |
| 11 | g.59153314A>T | CA380789499 | FAM111A | c.1646A>T (p.Lys549Ile) c.1526A>T (p.Lys509Ile) | |
| 11 | g.59153315A= | CA1976277211 | FAM111A | c.1647A= (p.Lys549=) c.1527A= (p.Lys509=) | |
| 11 | g.59153315A>C | CA380789505 | FAM111A | c.1647A>C (p.Lys549Asn) c.1527A>C (p.Lys509Asn) | |
| 11 | g.59153315A>G | CA474820333 | FAM111A | c.1647A>G (p.Lys549=) c.1527A>G (p.Lys509=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59153315A>T | CA380789507 | FAM111A | c.1647A>T (p.Lys549Asn) c.1527A>T (p.Lys509Asn) | |
| 11 | g.59153316G>A | CA6016809 | FAM111A | c.1648G>A (p.Gly550Ser) c.1528G>A (p.Gly510Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153316G>C | CA380789511 | FAM111A | c.1648G>C (p.Gly550Arg) c.1528G>C (p.Gly510Arg) | |
| 11 | g.59153316G= | CA1976277214 | FAM111A | c.1648G= (p.Gly550=) c.1528G= (p.Gly510=) | |
| 11 | g.59153316G>T | CA6016810 | FAM111A | c.1648G>T (p.Gly550Cys) c.1528G>T (p.Gly510Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153317G>A | CA6016811 | FAM111A | c.1649G>A (p.Gly550Asp) c.1529G>A (p.Gly510Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153317G>C | CA380789518 | FAM111A | c.1649G>C (p.Gly550Ala) c.1529G>C (p.Gly510Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59153317G= | CA1976277226 | FAM111A | c.1649G= (p.Gly550=) c.1529G= (p.Gly510=) | |
| 11 | g.59153317G>T | CA223182832 | FAM111A | c.1649G>T (p.Gly550Val) c.1529G>T (p.Gly510Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153318T>A | CA474820336 | FAM111A | c.1650T>A (p.Gly550=) c.1530T>A (p.Gly510=) | |
| 11 | g.59153318T>C | CA474820338 | FAM111A | c.1650T>C (p.Gly550=) c.1530T>C (p.Gly510=) | |
| 11 | g.59153318T>G | CA474820340 | FAM111A | c.1650T>G (p.Gly550=) c.1530T>G (p.Gly510=) | |
| 11 | g.59153319T>A | CA380789522 | FAM111A | c.1651T>A (p.Ser551Thr) c.1531T>A (p.Ser511Thr) | |
| 11 | g.59153319T>C | CA380789524 | FAM111A | c.1651T>C (p.Ser551Pro) c.1531T>C (p.Ser511Pro) | |
| 11 | g.59153319T>G | CA380789528 | FAM111A | c.1651T>G (p.Ser551Ala) c.1531T>G (p.Ser511Ala) | |
| 11 | g.59153320C>A | CA380789533 | FAM111A | c.1652C>A (p.Ser551Ter) c.1532C>A (p.Ser511Ter) | |
| 11 | g.59153320C>G | CA380789536 | FAM111A | c.1652C>G (p.Ser551Ter) c.1532C>G (p.Ser511Ter) | |
| 11 | g.59153320C>T | CA380789530 | FAM111A | c.1652C>T (p.Ser551Leu) c.1532C>T (p.Ser511Leu) | COSMIC |
| 11 | g.59153321A= | CA1976277230 | FAM111A | c.1653A= (p.Ser551=) c.1533A= (p.Ser511=) | |
| 11 | g.59153321A>C | CA474820343 | FAM111A | c.1653A>C (p.Ser551=) c.1533A>C (p.Ser511=) | |
| 11 | g.59153321A>G | CA6016812 | FAM111A | c.1653A>G (p.Ser551=) c.1533A>G (p.Ser511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153321A>T | CA6016813 | FAM111A | c.1653A>T (p.Ser551=) c.1533A>T (p.Ser511=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153322T>A | CA380789543 | FAM111A | c.1654T>A (p.Leu552Met) c.1534T>A (p.Leu512Met) | |
| 11 | g.59153322T>C | CA474820346 | FAM111A | c.1654T>C (p.Leu552=) c.1534T>C (p.Leu512=) | dbSNP |
| 11 | g.59153322T>G | CA380789547 | FAM111A | c.1654T>G (p.Leu552Val) c.1534T>G (p.Leu512Val) | |
| 11 | g.59153322T= | CA1976277232 | FAM111A | c.1654T= (p.Leu552=) c.1534T= (p.Leu512=) | |
| 11 | g.59153323T>A | CA380789550 | FAM111A | c.1655T>A (p.Leu552Ter) c.1535T>A (p.Leu512Ter) | |
| 11 | g.59153323T>C | CA380789552 | FAM111A | c.1655T>C (p.Leu552Ser) c.1535T>C (p.Leu512Ser) | |
| 11 | g.59153323T>G | CA380789553 | FAM111A | c.1655T>G (p.Leu552Trp) c.1535T>G (p.Leu512Trp) | |
| 11 | g.59153324G>A | CA474820350 | FAM111A | c.1656G>A (p.Leu552=) c.1536G>A (p.Leu512=) | |
| 11 | g.59153324G>C | CA380789555 | FAM111A | c.1656G>C (p.Leu552Phe) c.1536G>C (p.Leu512Phe) | |
| 11 | g.59153324G= | CA1976277235 | FAM111A | c.1656G= (p.Leu552=) c.1536G= (p.Leu512=) | |
| 11 | g.59153324G>T | CA223182838 | FAM111A | c.1656G>T (p.Leu552Phe) c.1536G>T (p.Leu512Phe) | dbSNP gnomAD v4 |
| 11 | g.59153325G>A | CA380789560 | FAM111A | c.1657G>A (p.Val553Met) c.1537G>A (p.Val513Met) | dbSNP gnomAD v4 |
| 11 | g.59153325G>C | CA380789563 | FAM111A | c.1657G>C (p.Val553Leu) c.1537G>C (p.Val513Leu) | |
| 11 | g.59153325G>T | CA380789565 | FAM111A | c.1657G>T (p.Val553Leu) c.1537G>T (p.Val513Leu) | |
| 11 | g.59153326T>A | CA380789569 | FAM111A | c.1658T>A (p.Val553Glu) c.1538T>A (p.Val513Glu) | dbSNP |
| 11 | g.59153326T>C | CA380789570 | FAM111A | c.1658T>C (p.Val553Ala) c.1538T>C (p.Val513Ala) | |
| 11 | g.59153326T>G | CA380789574 | FAM111A | c.1658T>G (p.Val553Gly) c.1538T>G (p.Val513Gly) | |
| 11 | g.59153326T= | CA1976277238 | FAM111A | c.1658T= (p.Val553=) c.1538T= (p.Val513=) | |
| 11 | g.59153327G>A | CA474820357 | FAM111A | c.1659G>A (p.Val553=) c.1539G>A (p.Val513=) | gnomAD v4 |
| 11 | g.59153327G>C | CA474820356 | FAM111A | c.1659G>C (p.Val553=) c.1539G>C (p.Val513=) | |
| 11 | g.59153327G>T | CA474820355 | FAM111A | c.1659G>T (p.Val553=) c.1539G>T (p.Val513=) | |
| 11 | g.59153328G>A | CA6016814 | FAM111A | c.1660G>A (p.Ala554Thr) c.1540G>A (p.Ala514Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.59153328G>C | CA380789580 | FAM111A | c.1660G>C (p.Ala554Pro) c.1540G>C (p.Ala514Pro) | |
| 11 | g.59153328G= | CA1976277243 | FAM111A | c.1660G= (p.Ala554=) c.1540G= (p.Ala514=) | |
| 11 | g.59153328G>T | CA380789577 | FAM111A | c.1660G>T (p.Ala554Ser) c.1540G>T (p.Ala514Ser) | |
| 11 | g.59153329C>A | CA380789586 | FAM111A | c.1661C>A (p.Ala554Asp) c.1541C>A (p.Ala514Asp) | |
| 11 | g.59153329C>G | CA380789588 | FAM111A | c.1661C>G (p.Ala554Gly) c.1541C>G (p.Ala514Gly) | |
| 11 | g.59153329C>T | CA380789591 | FAM111A | c.1661C>T (p.Ala554Val) c.1541C>T (p.Ala514Val) | |
| 11 | g.59153330C>A | CA474820361 | FAM111A | c.1662C>A (p.Ala554=) c.1542C>A (p.Ala514=) | |
| 11 | g.59153330C>G | CA474820362 | FAM111A | c.1662C>G (p.Ala554=) c.1542C>G (p.Ala514=) | |
| 11 | g.59153330C>T | CA474820363 | FAM111A | c.1662C>T (p.Ala554=) c.1542C>T (p.Ala514=) | |
| 11 | g.59153331A= | CA1976277246 | FAM111A | c.1663A= (p.Met555=) c.1543A= (p.Met515=) | |
| 11 | g.59153331A>C | CA380789593 | FAM111A | c.1663A>C (p.Met555Leu) c.1543A>C (p.Met515Leu) | |
| 11 | g.59153331A>G | CA380789597 | FAM111A | c.1663A>G (p.Met555Val) c.1543A>G (p.Met515Val) | dbSNP gnomAD v4 |
| 11 | g.59153331A>T | CA380789600 | FAM111A | c.1663A>T (p.Met555Leu) c.1543A>T (p.Met515Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153332T>A | CA380789603 | FAM111A | c.1664T>A (p.Met555Lys) c.1544T>A (p.Met515Lys) | |
| 11 | g.59153332T>C | CA223182855 | FAM111A | c.1664T>C (p.Met555Thr) c.1544T>C (p.Met515Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59153332T>G | CA380789609 | FAM111A | c.1664T>G (p.Met555Arg) c.1544T>G (p.Met515Arg) | |
| 11 | g.59153332T= | CA1976277252 | FAM111A | c.1664T= (p.Met555=) c.1544T= (p.Met515=) | |
| 11 | g.59153333G>A | CA380789613 | FAM111A | c.1665G>A (p.Met555Ile) c.1545G>A (p.Met515Ile) | |
| 11 | g.59153333G>C | CA380789616 | FAM111A | c.1665G>C (p.Met555Ile) c.1545G>C (p.Met515Ile) | |
| 11 | g.59153333G>T | CA380789618 | FAM111A | c.1665G>T (p.Met555Ile) c.1545G>T (p.Met515Ile) | |
| 11 | g.59153334C>A | CA380789625 | FAM111A | c.1666C>A (p.His556Asn) c.1546C>A (p.His516Asn) | |
| 11 | g.59153334C= | CA1976277257 | FAM111A | c.1666C= (p.His556=) c.1546C= (p.His516=) | |
| 11 | g.59153334C>G | CA380789623 | FAM111A | c.1666C>G (p.His556Asp) c.1546C>G (p.His516Asp) | |
| 11 | g.59153334C>T | CA223182859 | FAM111A | c.1666C>T (p.His556Tyr) c.1546C>T (p.His516Tyr) | dbSNP |
| 11 | g.59153335A= | CA1976277259 | FAM111A | c.1667A= (p.His556=) c.1547A= (p.His516=) | |
| 11 | g.59153335A>C | CA380789629 | FAM111A | c.1667A>C (p.His556Pro) c.1547A>C (p.His516Pro) | |
| 11 | g.59153335A>G | CA6016815 | FAM111A | c.1667A>G (p.His556Arg) c.1547A>G (p.His516Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153335A>T | CA380789632 | FAM111A | c.1667A>T (p.His556Leu) c.1547A>T (p.His516Leu) | |
| 11 | g.59153336T>A | CA380789636 | FAM111A | c.1668T>A (p.His556Gln) c.1548T>A (p.His516Gln) | |
| 11 | g.59153336T>C | CA474820368 | FAM111A | c.1668T>C (p.His556=) c.1548T>C (p.His516=) | |
| 11 | g.59153336T>G | CA380789638 | FAM111A | c.1668T>G (p.His556Gln) c.1548T>G (p.His516Gln) | gnomAD v4 |
| 11 | g.59153337G>A | CA380789642 | FAM111A | c.1669G>A (p.Ala557Thr) c.1549G>A (p.Ala517Thr) | gnomAD v4 |
| 11 | g.59153337G>C | CA380789644 | FAM111A | c.1669G>C (p.Ala557Pro) c.1549G>C (p.Ala517Pro) | |
| 11 | g.59153337G>T | CA380789647 | FAM111A | c.1669G>T (p.Ala557Ser) c.1549G>T (p.Ala517Ser) | |
| 11 | g.59153338C>A | CA380789650 | FAM111A | c.1670C>A (p.Ala557Asp) c.1550C>A (p.Ala517Asp) | |
| 11 | g.59153338C>G | CA380789652 | FAM111A | c.1670C>G (p.Ala557Gly) c.1550C>G (p.Ala517Gly) | ClinVar |
| 11 | g.59153338C>T | CA380789656 | FAM111A | c.1670C>T (p.Ala557Val) c.1550C>T (p.Ala517Val) | |
| 11 | g.59153339T>A | CA474820372 | FAM111A | c.1671T>A (p.Ala557=) c.1551T>A (p.Ala517=) | |
| 11 | g.59153339T>C | CA474820374 | FAM111A | c.1671T>C (p.Ala557=) c.1551T>C (p.Ala517=) | |
| 11 | g.59153339T>G | CA474820378 | FAM111A | c.1671T>G (p.Ala557=) c.1551T>G (p.Ala517=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153339T= | CA1976277261 | FAM111A | c.1671T= (p.Ala557=) c.1551T= (p.Ala517=) | |
| 11 | g.59153340G>A | CA380789658 | FAM111A | c.1672G>A (p.Ala558Thr) c.1552G>A (p.Ala518Thr) | gnomAD v4 |
| 11 | g.59153340G>C | CA380789660 | FAM111A | c.1672G>C (p.Ala558Pro) c.1552G>C (p.Ala518Pro) | |
| 11 | g.59153340G>T | CA380789663 | FAM111A | c.1672G>T (p.Ala558Ser) c.1552G>T (p.Ala518Ser) | |
| 11 | g.59153341C>A | CA380789672 | FAM111A | c.1673C>A (p.Ala558Asp) c.1553C>A (p.Ala518Asp) | |
| 11 | g.59153341C>G | CA380789670 | FAM111A | c.1673C>G (p.Ala558Gly) c.1553C>G (p.Ala518Gly) | |
| 11 | g.59153341C>T | CA380789667 | FAM111A | c.1673C>T (p.Ala558Val) c.1553C>T (p.Ala518Val) | COSMIC |
| 11 | g.59153342T>A | CA474820388 | FAM111A | c.1674T>A (p.Ala558=) c.1554T>A (p.Ala518=) | |
| 11 | g.59153342T>C | CA474820389 | FAM111A | c.1674T>C (p.Ala558=) c.1554T>C (p.Ala518=) | |
| 11 | g.59153342T>G | CA474820390 | FAM111A | c.1674T>G (p.Ala558=) c.1554T>G (p.Ala518=) | |
| 11 | g.59153343G>A | CA380789676 | FAM111A | c.1675G>A (p.Gly559Ser) c.1555G>A (p.Gly519Ser) | |
| 11 | g.59153343G>C | CA380789677 | FAM111A | c.1675G>C (p.Gly559Arg) c.1555G>C (p.Gly519Arg) | |
| 11 | g.59153343G>T | CA380789679 | FAM111A | c.1675G>T (p.Gly559Cys) c.1555G>T (p.Gly519Cys) | |
| 11 | g.59153344G>A | CA380789683 | FAM111A | c.1676G>A (p.Gly559Asp) c.1556G>A (p.Gly519Asp) | ClinVar |
| 11 | g.59153344G>C | CA380789685 | FAM111A | c.1676G>C (p.Gly559Ala) c.1556G>C (p.Gly519Ala) | |
| 11 | g.59153344G>T | CA380789688 | FAM111A | c.1676G>T (p.Gly559Val) c.1556G>T (p.Gly519Val) | |
| 11 | g.59153345C>A | CA474820397 | FAM111A | c.1677C>A (p.Gly559=) c.1557C>A (p.Gly519=) | |
| 11 | g.59153345C= | CA1976277263 | FAM111A | c.1677C= (p.Gly559=) c.1557C= (p.Gly519=) | |
| 11 | g.59153345C>G | CA474820399 | FAM111A | c.1677C>G (p.Gly559=) c.1557C>G (p.Gly519=) | |
| 11 | g.59153345C>T | CA6016816 | FAM111A | c.1677C>T (p.Gly559=) c.1557C>T (p.Gly519=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.59153346T>A | CA380789694 | FAM111A | c.1678T>A (p.Phe560Ile) c.1558T>A (p.Phe520Ile) | |
| 11 | g.59153346T>C | CA380789697 | FAM111A | c.1678T>C (p.Phe560Leu) c.1558T>C (p.Phe520Leu) | |
| 11 | g.59153346T>G | CA380789700 | FAM111A | c.1678T>G (p.Phe560Val) c.1558T>G (p.Phe520Val) | |
| 11 | g.59153347T>A | CA380789704 | FAM111A | c.1679T>A (p.Phe560Tyr) c.1559T>A (p.Phe520Tyr) | |
| 11 | g.59153347T>C | CA380789708 | FAM111A | c.1679T>C (p.Phe560Ser) c.1559T>C (p.Phe520Ser) | dbSNP |
| 11 | g.59153347T>G | CA380789711 | FAM111A | c.1679T>G (p.Phe560Cys) c.1559T>G (p.Phe520Cys) | |
| 11 | g.59153347T= | CA1976277267 | FAM111A | c.1679T= (p.Phe560=) c.1559T= (p.Phe520=) | |
| 11 | g.59153348T>A | CA380789718 | FAM111A | c.1680T>A (p.Phe560Leu) c.1560T>A (p.Phe520Leu) | |
| 11 | g.59153348T>C | CA474820410 | FAM111A | c.1680T>C (p.Phe560=) c.1560T>C (p.Phe520=) | |
| 11 | g.59153348T>G | CA380789715 | FAM111A | c.1680T>G (p.Phe560Leu) c.1560T>G (p.Phe520Leu) | |
| 11 | g.59153349G>A | CA6016817 | FAM111A | c.1681G>A (p.Ala561Thr) c.1561G>A (p.Ala521Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153349G>C | CA380789725 | FAM111A | c.1681G>C (p.Ala561Pro) c.1561G>C (p.Ala521Pro) | gnomAD v4 |
| 11 | g.59153349G= | CA1976277269 | FAM111A | c.1681G= (p.Ala561=) c.1561G= (p.Ala521=) | |
| 11 | g.59153349G>T | CA380789722 | FAM111A | c.1681G>T (p.Ala561Ser) c.1561G>T (p.Ala521Ser) | |
| 11 | g.59153350C>A | CA380789729 | FAM111A | c.1682C>A (p.Ala561Asp) c.1562C>A (p.Ala521Asp) | |
| 11 | g.59153350C= | CA1976277272 | FAM111A | c.1682C= (p.Ala561=) c.1562C= (p.Ala521=) | |
| 11 | g.59153350C>G | CA380789735 | FAM111A | c.1682C>G (p.Ala561Gly) c.1562C>G (p.Ala521Gly) | |
| 11 | g.59153350C>T | CA6016818 | FAM111A | c.1682C>T (p.Ala561Val) c.1562C>T (p.Ala521Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153351T>A | CA474820416 | FAM111A | c.1683T>A (p.Ala561=) c.1563T>A (p.Ala521=) | |
| 11 | g.59153351T>C | CA474820417 | FAM111A | c.1683T>C (p.Ala561=) c.1563T>C (p.Ala521=) | |
| 11 | g.59153351T>G | CA474820421 | FAM111A | c.1683T>G (p.Ala561=) c.1563T>G (p.Ala521=) | |
| 11 | g.59153352T>A | CA380789739 | FAM111A | c.1684T>A (p.Tyr562Asn) c.1564T>A (p.Tyr522Asn) | |
| 11 | g.59153352T>C | CA380789740 | FAM111A | c.1684T>C (p.Tyr562His) c.1564T>C (p.Tyr522His) | |
| 11 | g.59153352T>G | CA380789744 | FAM111A | c.1684T>G (p.Tyr562Asp) c.1564T>G (p.Tyr522Asp) | |
| 11 | g.59153353A>C | CA380789747 | FAM111A | c.1685A>C (p.Tyr562Ser) c.1565A>C (p.Tyr522Ser) | ClinVar dbSNP |
| 11 | g.59153353A>G | CA380789750 | FAM111A | c.1685A>G (p.Tyr562Cys) c.1565A>G (p.Tyr522Cys) | gnomAD v4 |
| 11 | g.59153353A>T | CA380789752 | FAM111A | c.1685A>T (p.Tyr562Phe) c.1565A>T (p.Tyr522Phe) | gnomAD v4 |
| 11 | g.59153354T>A | CA380789762 | FAM111A | c.1686T>A (p.Tyr562Ter) c.1566T>A (p.Tyr522Ter) | |
| 11 | g.59153354T>C | CA474820424 | FAM111A | c.1686T>C (p.Tyr562=) c.1566T>C (p.Tyr522=) | |
| 11 | g.59153354T>G | CA380789756 | FAM111A | c.1686T>G (p.Tyr562Ter) c.1566T>G (p.Tyr522Ter) | |
| 11 | g.59153355A= | CA1976277275 | FAM111A | c.1687A= (p.Thr563=) c.1567A= (p.Thr523=) | |
| 11 | g.59153355A>C | CA380789768 | FAM111A | c.1687A>C (p.Thr563Pro) c.1567A>C (p.Thr523Pro) | |
| 11 | g.59153355A>G | CA6016819 | FAM111A | c.1687A>G (p.Thr563Ala) c.1567A>G (p.Thr523Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153355A>T | CA380789774 | FAM111A | c.1687A>T (p.Thr563Ser) c.1567A>T (p.Thr523Ser) | |
| 11 | g.59153356C>A | CA380789778 | FAM111A | c.1688C>A (p.Thr563Asn) c.1568C>A (p.Thr523Asn) | |
| 11 | g.59153356C= | CA1976277281 | FAM111A | c.1688C= (p.Thr563=) c.1568C= (p.Thr523=) | |
| 11 | g.59153356C>G | CA380789781 | FAM111A | c.1688C>G (p.Thr563Ser) c.1568C>G (p.Thr523Ser) | gnomAD v4 |
| 11 | g.59153356C>T | CA380789784 | FAM111A | c.1688C>T (p.Thr563Ile) c.1568C>T (p.Thr523Ile) | dbSNP |
| 11 | g.59153356_59153357delinsCT | CA1976277279 | FAM111A | c.1688_1689delinsCT (p.Thr563=) c.1568_1569delinsCT (p.Thr523=) | |
| 11 | g.59153357T>A | CA474820427 | FAM111A | c.1689T>A (p.Thr563=) c.1569T>A (p.Thr523=) | |
| 11 | g.59153357T>C | CA474820428 | FAM111A | c.1689T>C (p.Thr563=) c.1569T>C (p.Thr523=) | |
| 11 | g.59153357T>G | CA474820430 | FAM111A | c.1689T>G (p.Thr563=) c.1569T>G (p.Thr523=) | |
| 11 | g.59153358del | CA1976277285 | FAM111A | c.1690del (p.Tyr564ThrfsTer?) c.1570del (p.Tyr524ThrfsTer?) | dbSNP |
| 11 | g.59153358T>A | CA380789794 | FAM111A | c.1690T>A (p.Tyr564Asn) c.1570T>A (p.Tyr524Asn) | |
| 11 | g.59153358T>C | CA380789788 | FAM111A | c.1690T>C (p.Tyr564His) c.1570T>C (p.Tyr524His) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.59153358T>G | CA380789792 | FAM111A | c.1690T>G (p.Tyr564Asp) c.1570T>G (p.Tyr524Asp) | |
| 11 | g.59153358T= | CA1976277290 | FAM111A | c.1690T= (p.Tyr564=) c.1570T= (p.Tyr524=) | |
| 11 | g.59153359A>C | CA380789797 | FAM111A | c.1691A>C (p.Tyr564Ser) c.1571A>C (p.Tyr524Ser) | |
| 11 | g.59153359A>G | CA380789800 | FAM111A | c.1691A>G (p.Tyr564Cys) c.1571A>G (p.Tyr524Cys) | |
| 11 | g.59153359A>T | CA380789802 | FAM111A | c.1691A>T (p.Tyr564Phe) c.1571A>T (p.Tyr524Phe) | |
| 11 | g.59153359dup | CA2613671196 | FAM111A | c.1691dup (p.Tyr564Ter) c.1571dup (p.Tyr524Ter) | gnomAD v4 |
| 11 | g.59153359_59153360delinsAC | CA1976277294 | FAM111A | c.1691_1692delinsAC (p.Tyr564=) c.1571_1572delinsAC (p.Tyr524=) | |
| 11 | g.59153360C>A | CA380789806 | FAM111A | c.1692C>A (p.Tyr564Ter) c.1572C>A (p.Tyr524Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153360C= | CA1976277297 | FAM111A | c.1692C= (p.Tyr564=) c.1572C= (p.Tyr524=) | |
| 11 | g.59153360C>G | CA380789807 | FAM111A | c.1692C>G (p.Tyr564Ter) c.1572C>G (p.Tyr524Ter) | |
| 11 | g.59153360C>T | CA474820437 | FAM111A | c.1692C>T (p.Tyr564=) c.1572C>T (p.Tyr524=) | |
| 11 | g.59153361del | CA223182878 | FAM111A | c.1693del (p.Gln565LysfsTer?) c.1573del (p.Gln525LysfsTer?) | dbSNP gnomAD v4 |
| 11 | g.59153361C>A | CA380789811 | FAM111A | c.1693C>A (p.Gln565Lys) c.1573C>A (p.Gln525Lys) | |
| 11 | g.59153361C>G | CA380789814 | FAM111A | c.1693C>G (p.Gln565Glu) c.1573C>G (p.Gln525Glu) | |
| 11 | g.59153361C>T | CA380789817 | FAM111A | c.1693C>T (p.Gln565Ter) c.1573C>T (p.Gln525Ter) | |
| 11 | g.59153361_59153362delinsCA | CA1976277299 | FAM111A | c.1693_1694delinsCA (p.Gln565=) c.1573_1574delinsCA (p.Gln525=) | |
| 11 | g.59153362A= | CA1976277308 | FAM111A | c.1694A= (p.Gln565=) c.1574A= (p.Gln525=) | |
| 11 | g.59153362A>C | CA380789822 | FAM111A | c.1694A>C (p.Gln565Pro) c.1574A>C (p.Gln525Pro) | |
| 11 | g.59153362A>G | CA380789825 | FAM111A | c.1694A>G (p.Gln565Arg) c.1574A>G (p.Gln525Arg) | dbSNP gnomAD v4 |
| 11 | g.59153362A>T | CA380789828 | FAM111A | c.1694A>T (p.Gln565Leu) c.1574A>T (p.Gln525Leu) | |
| 11 | g.59153365del | CA658797650 | FAM111A | c.1697del (p.Asn566MetfsTer?) c.1577del (p.Asn526MetfsTer?) | ClinVar dbSNP |
| 11 | g.59153363A>C | CA380789832 | FAM111A | c.1695A>C (p.Gln565His) c.1575A>C (p.Gln525His) | |
| 11 | g.59153363A>G | CA474820439 | FAM111A | c.1695A>G (p.Gln565=) c.1575A>G (p.Gln525=) | |
| 11 | g.59153363A>T | CA380789835 | FAM111A | c.1695A>T (p.Gln565His) c.1575A>T (p.Gln525His) | |
| 11 | g.59153364A>C | CA380789845 | FAM111A | c.1696A>C (p.Asn566His) c.1576A>C (p.Asn526His) | |
| 11 | g.59153364A>G | CA380789840 | FAM111A | c.1696A>G (p.Asn566Asp) c.1576A>G (p.Asn526Asp) | |
| 11 | g.59153364A>T | CA380789843 | FAM111A | c.1696A>T (p.Asn566Tyr) c.1576A>T (p.Asn526Tyr) | |
| 11 | g.59153364_59153365insCACACCCAACAC | CA2792269157 | FAM111A | c.1696_1697insCACACCCAACAC (p.Asn566delinsThrHisProThrHis) c.1576_1577insCACACCCAACAC (p.Asn526delinsThrHisProThrHis) | |
| 11 | g.59153365A>C | CA380789847 | FAM111A | c.1697A>C (p.Asn566Thr) c.1577A>C (p.Asn526Thr) | |
| 11 | g.59153365A>G | CA380789848 | FAM111A | c.1697A>G (p.Asn566Ser) c.1577A>G (p.Asn526Ser) | gnomAD v4 |
| 11 | g.59153365A>T | CA380789851 | FAM111A | c.1697A>T (p.Asn566Ile) c.1577A>T (p.Asn526Ile) | |
| 11 | g.59153366T>A | CA380789854 | FAM111A | c.1698T>A (p.Asn566Lys) c.1578T>A (p.Asn526Lys) | |
| 11 | g.59153366T>C | CA474820444 | FAM111A | c.1698T>C (p.Asn566=) c.1578T>C (p.Asn526=) | gnomAD v4 |
| 11 | g.59153366T>G | CA380789856 | FAM111A | c.1698T>G (p.Asn566Lys) c.1578T>G (p.Asn526Lys) | |
| 11 | g.59153367G>A | CA223182882 | FAM111A | c.1699G>A (p.Glu567Lys) c.1579G>A (p.Glu527Lys) | dbSNP gnomAD v4 |
| 11 | g.59153367G>C | CA380789863 | FAM111A | c.1699G>C (p.Glu567Gln) c.1579G>C (p.Glu527Gln) | |
| 11 | g.59153367G= | CA1976277312 | FAM111A | c.1699G= (p.Glu567=) c.1579G= (p.Glu527=) | |
| 11 | g.59153367G>T | CA380789860 | FAM111A | c.1699G>T (p.Glu567Ter) c.1579G>T (p.Glu527Ter) | |
| 11 | g.59153368A>C | CA380789867 | FAM111A | c.1700A>C (p.Glu567Ala) c.1580A>C (p.Glu527Ala) | |
| 11 | g.59153368A>G | CA380789868 | FAM111A | c.1700A>G (p.Glu567Gly) c.1580A>G (p.Glu527Gly) | |
| 11 | g.59153368A>T | CA380789869 | FAM111A | c.1700A>T (p.Glu567Val) c.1580A>T (p.Glu527Val) | |
| 11 | g.59153369G>A | CA6016820 | FAM111A | c.1701G>A (p.Glu567=) c.1581G>A (p.Glu527=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153369G>C | CA380789871 | FAM111A | c.1701G>C (p.Glu567Asp) c.1581G>C (p.Glu527Asp) | |
| 11 | g.59153369G= | CA1976277315 | FAM111A | c.1701G= (p.Glu567=) c.1581G= (p.Glu527=) | |
| 11 | g.59153369G>T | CA380789873 | FAM111A | c.1701G>T (p.Glu567Asp) c.1581G>T (p.Glu527Asp) | |
| 11 | g.59153370A= | CA1976277321 | FAM111A | c.1702A= (p.Thr568=) c.1582A= (p.Thr528=) | |
| 11 | g.59153370A>C | CA380789896 | FAM111A | c.1702A>C (p.Thr568Pro) c.1582A>C (p.Thr528Pro) | |
| 11 | g.59153370A>G | CA380789876 | FAM111A | c.1702A>G (p.Thr568Ala) c.1582A>G (p.Thr528Ala) | dbSNP |
| 11 | g.59153370A>T | CA380789880 | FAM111A | c.1702A>T (p.Thr568Ser) c.1582A>T (p.Thr528Ser) | |
| 11 | g.59153371C>A | CA380789900 | FAM111A | c.1703C>A (p.Thr568Asn) c.1583C>A (p.Thr528Asn) | |
| 11 | g.59153371C= | CA1976277323 | FAM111A | c.1703C= (p.Thr568=) c.1583C= (p.Thr528=) | |
| 11 | g.59153371C>G | CA380789901 | FAM111A | c.1703C>G (p.Thr568Ser) c.1583C>G (p.Thr528Ser) | gnomAD v4 |
| 11 | g.59153371C>T | CA380789902 | FAM111A | c.1703C>T (p.Thr568Ile) c.1583C>T (p.Thr528Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.59153372T>A | CA474820453 | FAM111A | c.1704T>A (p.Thr568=) c.1584T>A (p.Thr528=) | |
| 11 | g.59153372T>C | CA474820454 | FAM111A | c.1704T>C (p.Thr568=) c.1584T>C (p.Thr528=) | gnomAD v4 |
| 11 | g.59153372T>G | CA474820455 | FAM111A | c.1704T>G (p.Thr568=) c.1584T>G (p.Thr528=) | |
| 11 | g.59153373C>A | CA380789904 | FAM111A | c.1705C>A (p.Arg569Ser) c.1585C>A (p.Arg529Ser) | |
| 11 | g.59153373C= | CA1976277325 | FAM111A | c.1705C= (p.Arg569=) c.1585C= (p.Arg529=) | |
| 11 | g.59153373C>G | CA380789905 | FAM111A | c.1705C>G (p.Arg569Gly) c.1585C>G (p.Arg529Gly) | COSMIC |
| 11 | g.59153373C>T | CA6016821 | FAM111A | c.1705C>T (p.Arg569Cys) c.1585C>T (p.Arg529Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.59153374G>A | CA344770 | FAM111A | c.1706G>A (p.Arg569His) c.1586G>A (p.Arg529His) | ClinVar dbSNP |
| 11 | g.59153374G>C | CA380789907 | FAM111A | c.1706G>C (p.Arg569Pro) c.1586G>C (p.Arg529Pro) | |
| 11 | g.59153374G= | CA1976277329 | FAM111A | c.1706G= (p.Arg569=) c.1586G= (p.Arg529=) | |
| 11 | g.59153374G>T | CA380789908 | FAM111A | c.1706G>T (p.Arg569Leu) c.1586G>T (p.Arg529Leu) |