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 |
|---|---|---|---|---|---|
| 12 | g.51920820_51920887del | CA2695216730 | ACVRL1 | c.1169_1236del (p.Leu390ProfsTer?) c.1439_1506del (p.Leu480ProfsTer?) c.917_984del (p.Leu306ProfsTer?) c.1481_1548del (p.Leu494ProfsTer?) c.650_717del (p.Leu217ProfsTer?) | |
| 12 | g.51920862A>C | CA384906171 | ACVRL1 | c.1211A>C (p.Asn404Thr) c.1481A>C (p.Asn494Thr) c.959A>C (p.Asn320Thr) c.1523A>C (p.Asn508Thr) c.692A>C (p.Asn231Thr) | |
| 12 | g.51920862A>G | CA384906170 | ACVRL1 | c.1211A>G (p.Asn404Ser) c.1481A>G (p.Asn494Ser) c.959A>G (p.Asn320Ser) c.1523A>G (p.Asn508Ser) c.692A>G (p.Asn231Ser) | |
| 12 | g.51920862A>T | CA384906169 | ACVRL1 | c.1211A>T (p.Asn404Ile) c.1481A>T (p.Asn494Ile) c.959A>T (p.Asn320Ile) c.1523A>T (p.Asn508Ile) c.692A>T (p.Asn231Ile) | |
| 12 | g.51920863C>A | CA384906173 | ACVRL1 | c.1212C>A (p.Asn404Lys) c.1482C>A (p.Asn494Lys) c.960C>A (p.Asn320Lys) c.1524C>A (p.Asn508Lys) c.693C>A (p.Asn231Lys) | |
| 12 | g.51920863C>G | CA384906182 | ACVRL1 | c.1212C>G (p.Asn404Lys) c.1482C>G (p.Asn494Lys) c.960C>G (p.Asn320Lys) c.1524C>G (p.Asn508Lys) c.693C>G (p.Asn231Lys) | |
| 12 | g.51920863C>T | CA479817177 | ACVRL1 | c.1212C>T (p.Asn404=) c.1482C>T (p.Asn494=) c.960C>T (p.Asn320=) c.1524C>T (p.Asn508=) c.693C>T (p.Asn231=) | |
| 12 | g.51920864A= | CA2036241982 | ACVRL1 | c.1213A= (p.Ser405=) c.1483A= (p.Ser495=) c.961A= (p.Ser321=) c.1525A= (p.Ser509=) c.694A= (p.Ser232=) | |
| 12 | g.51920864A>C | CA384906186 | ACVRL1 | c.1213A>C (p.Ser405Arg) c.1483A>C (p.Ser495Arg) c.961A>C (p.Ser321Arg) c.1525A>C (p.Ser509Arg) c.694A>C (p.Ser232Arg) | |
| 12 | g.51920864A>G | CA236367787 | ACVRL1 | c.1213A>G (p.Ser405Gly) c.1483A>G (p.Ser495Gly) c.961A>G (p.Ser321Gly) c.1525A>G (p.Ser509Gly) c.694A>G (p.Ser232Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920864A>T | CA384906200 | ACVRL1 | c.1213A>T (p.Ser405Cys) c.1483A>T (p.Ser495Cys) c.961A>T (p.Ser321Cys) c.1525A>T (p.Ser509Cys) c.694A>T (p.Ser232Cys) | |
| 12 | g.51920865G>A | CA384906203 | ACVRL1 | c.1214G>A (p.Ser405Asn) c.1484G>A (p.Ser495Asn) c.962G>A (p.Ser321Asn) c.1526G>A (p.Ser509Asn) c.695G>A (p.Ser232Asn) | |
| 12 | g.51920865G>C | CA384906204 | ACVRL1 | c.1214G>C (p.Ser405Thr) c.1484G>C (p.Ser495Thr) c.962G>C (p.Ser321Thr) c.1526G>C (p.Ser509Thr) c.695G>C (p.Ser232Thr) | |
| 12 | g.51920865G>T | CA384906205 | ACVRL1 | c.1214G>T (p.Ser405Ile) c.1484G>T (p.Ser495Ile) c.962G>T (p.Ser321Ile) c.1526G>T (p.Ser509Ile) c.695G>T (p.Ser232Ile) | |
| 12 | g.51920866T>A | CA384906206 | ACVRL1 | c.1215T>A (p.Ser405Arg) c.1485T>A (p.Ser495Arg) c.963T>A (p.Ser321Arg) c.1527T>A (p.Ser509Arg) c.696T>A (p.Ser232Arg) | |
| 12 | g.51920866T>C | CA479817197 | ACVRL1 | c.1215T>C (p.Ser405=) c.1485T>C (p.Ser495=) c.963T>C (p.Ser321=) c.1527T>C (p.Ser509=) c.696T>C (p.Ser232=) | |
| 12 | g.51920866T>G | CA384906207 | ACVRL1 | c.1215T>G (p.Ser405Arg) c.1485T>G (p.Ser495Arg) c.963T>G (p.Ser321Arg) c.1527T>G (p.Ser509Arg) c.696T>G (p.Ser232Arg) | |
| 12 | g.51920867C>A | CA384906209 | ACVRL1 | c.1216C>A (p.Pro406Thr) c.1486C>A (p.Pro496Thr) c.964C>A (p.Pro322Thr) c.1528C>A (p.Pro510Thr) c.697C>A (p.Pro233Thr) | gnomAD v4 |
| 12 | g.51920867C>G | CA384906218 | ACVRL1 | c.1216C>G (p.Pro406Ala) c.1486C>G (p.Pro496Ala) c.964C>G (p.Pro322Ala) c.1528C>G (p.Pro510Ala) c.697C>G (p.Pro233Ala) | |
| 12 | g.51920867C>T | CA384906219 | ACVRL1 | c.1216C>T (p.Pro406Ser) c.1486C>T (p.Pro496Ser) c.964C>T (p.Pro322Ser) c.1528C>T (p.Pro510Ser) c.697C>T (p.Pro233Ser) | |
| 12 | g.51920868C>A | CA384906222 | ACVRL1 | c.1217C>A (p.Pro406Gln) c.1487C>A (p.Pro496Gln) c.965C>A (p.Pro322Gln) c.1529C>A (p.Pro510Gln) c.698C>A (p.Pro233Gln) | |
| 12 | g.51920868C>G | CA384906226 | ACVRL1 | c.1217C>G (p.Pro406Arg) c.1487C>G (p.Pro496Arg) c.965C>G (p.Pro322Arg) c.1529C>G (p.Pro510Arg) c.698C>G (p.Pro233Arg) | |
| 12 | g.51920868C>T | CA384906220 | ACVRL1 | c.1217C>T (p.Pro406Leu) c.1487C>T (p.Pro496Leu) c.965C>T (p.Pro322Leu) c.1529C>T (p.Pro510Leu) c.698C>T (p.Pro233Leu) | |
| 12 | g.51920869A>C | CA479817217 | ACVRL1 | c.1218A>C (p.Pro406=) c.1488A>C (p.Pro496=) c.966A>C (p.Pro322=) c.1530A>C (p.Pro510=) c.699A>C (p.Pro233=) | |
| 12 | g.51920869A>G | CA479817219 | ACVRL1 | c.1218A>G (p.Pro406=) c.1488A>G (p.Pro496=) c.966A>G (p.Pro322=) c.1530A>G (p.Pro510=) c.699A>G (p.Pro233=) | |
| 12 | g.51920869A>T | CA479817221 | ACVRL1 | c.1218A>T (p.Pro406=) c.1488A>T (p.Pro496=) c.966A>T (p.Pro322=) c.1530A>T (p.Pro510=) c.699A>T (p.Pro233=) | |
| 12 | g.51920870G>A | CA384906230 | ACVRL1 | c.1219G>A (p.Glu407Lys) c.1489G>A (p.Glu497Lys) c.967G>A (p.Glu323Lys) c.1531G>A (p.Glu511Lys) c.700G>A (p.Glu234Lys) | |
| 12 | g.51920870G>C | CA384906235 | ACVRL1 | c.1219G>C (p.Glu407Gln) c.1489G>C (p.Glu497Gln) c.967G>C (p.Glu323Gln) c.1531G>C (p.Glu511Gln) c.700G>C (p.Glu234Gln) | |
| 12 | g.51920870G>T | CA384906232 | ACVRL1 | c.1219G>T (p.Glu407Ter) c.1489G>T (p.Glu497Ter) c.967G>T (p.Glu323Ter) c.1531G>T (p.Glu511Ter) c.700G>T (p.Glu234Ter) | |
| 12 | g.51920871A>C | CA384906237 | ACVRL1 | c.1220A>C (p.Glu407Ala) c.1490A>C (p.Glu497Ala) c.968A>C (p.Glu323Ala) c.1532A>C (p.Glu511Ala) c.701A>C (p.Glu234Ala) | |
| 12 | g.51920871A>G | CA384906243 | ACVRL1 | c.1220A>G (p.Glu407Gly) c.1490A>G (p.Glu497Gly) c.968A>G (p.Glu323Gly) c.1532A>G (p.Glu511Gly) c.701A>G (p.Glu234Gly) | |
| 12 | g.51920871A>T | CA384906245 | ACVRL1 | c.1220A>T (p.Glu407Val) c.1490A>T (p.Glu497Val) c.968A>T (p.Glu323Val) c.1532A>T (p.Glu511Val) c.701A>T (p.Glu234Val) | |
| 12 | g.51920872G>A | CA479817242 | ACVRL1 | c.1221G>A (p.Glu407=) c.1491G>A (p.Glu497=) c.969G>A (p.Glu323=) c.1533G>A (p.Glu511=) c.702G>A (p.Glu234=) | |
| 12 | g.51920872G>C | CA384906249 | ACVRL1 | c.1221G>C (p.Glu407Asp) c.1491G>C (p.Glu497Asp) c.969G>C (p.Glu323Asp) c.1533G>C (p.Glu511Asp) c.702G>C (p.Glu234Asp) | |
| 12 | g.51920872G>T | CA384906251 | ACVRL1 | c.1221G>T (p.Glu407Asp) c.1491G>T (p.Glu497Asp) c.969G>T (p.Glu323Asp) c.1533G>T (p.Glu511Asp) c.702G>T (p.Glu234Asp) | |
| 12 | g.51920873A>C | CA384906255 | ACVRL1 | c.1222A>C (p.Lys408Gln) c.1492A>C (p.Lys498Gln) c.970A>C (p.Lys324Gln) c.1534A>C (p.Lys512Gln) c.703A>C (p.Lys235Gln) | |
| 12 | g.51920873A>G | CA384906256 | ACVRL1 | c.1222A>G (p.Lys408Glu) c.1492A>G (p.Lys498Glu) c.970A>G (p.Lys324Glu) c.1534A>G (p.Lys512Glu) c.703A>G (p.Lys235Glu) | |
| 12 | g.51920873A>T | CA384906259 | ACVRL1 | c.1222A>T (p.Lys408Ter) c.1492A>T (p.Lys498Ter) c.970A>T (p.Lys324Ter) c.1534A>T (p.Lys512Ter) c.703A>T (p.Lys235Ter) | |
| 12 | g.51920874A>C | CA384906271 | ACVRL1 | c.1223A>C (p.Lys408Thr) c.1493A>C (p.Lys498Thr) c.971A>C (p.Lys324Thr) c.1535A>C (p.Lys512Thr) c.704A>C (p.Lys235Thr) | |
| 12 | g.51920874A>G | CA384906272 | ACVRL1 | c.1223A>G (p.Lys408Arg) c.1493A>G (p.Lys498Arg) c.971A>G (p.Lys324Arg) c.1535A>G (p.Lys512Arg) c.704A>G (p.Lys235Arg) | |
| 12 | g.51920874A>T | CA384906274 | ACVRL1 | c.1223A>T (p.Lys408Met) c.1493A>T (p.Lys498Met) c.971A>T (p.Lys324Met) c.1535A>T (p.Lys512Met) c.704A>T (p.Lys235Met) | |
| 12 | g.51920875G>A | CA479817279 | ACVRL1 | c.1224G>A (p.Lys408=) c.1494G>A (p.Lys498=) c.972G>A (p.Lys324=) c.1536G>A (p.Lys512=) c.705G>A (p.Lys235=) | |
| 12 | g.51920875G>C | CA384906278 | ACVRL1 | c.1224G>C (p.Lys408Asn) c.1494G>C (p.Lys498Asn) c.972G>C (p.Lys324Asn) c.1536G>C (p.Lys512Asn) c.705G>C (p.Lys235Asn) | |
| 12 | g.51920875G>T | CA384906275 | ACVRL1 | c.1224G>T (p.Lys408Asn) c.1494G>T (p.Lys498Asn) c.972G>T (p.Lys324Asn) c.1536G>T (p.Lys512Asn) c.705G>T (p.Lys235Asn) | |
| 12 | g.51920876C>A | CA384906288 | ACVRL1 | c.1225C>A (p.Pro409Thr) c.1495C>A (p.Pro499Thr) c.973C>A (p.Pro325Thr) c.1537C>A (p.Pro513Thr) c.706C>A (p.Pro236Thr) | |
| 12 | g.51920876C= | CA2036241985 | ACVRL1 | c.1225C= (p.Pro409=) c.1495C= (p.Pro499=) c.973C= (p.Pro325=) c.1537C= (p.Pro513=) c.706C= (p.Pro236=) | |
| 12 | g.51920876C>G | CA6573179 | ACVRL1 | c.1225C>G (p.Pro409Ala) c.1495C>G (p.Pro499Ala) c.973C>G (p.Pro325Ala) c.1537C>G (p.Pro513Ala) c.706C>G (p.Pro236Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920876C>T | CA384906289 | ACVRL1 | c.1225C>T (p.Pro409Ser) c.1495C>T (p.Pro499Ser) c.973C>T (p.Pro325Ser) c.1537C>T (p.Pro513Ser) c.706C>T (p.Pro236Ser) | |
| 12 | g.51920877C>A | CA384906290 | ACVRL1 | c.1226C>A (p.Pro409His) c.1496C>A (p.Pro499His) c.974C>A (p.Pro325His) c.1538C>A (p.Pro513His) c.707C>A (p.Pro236His) | |
| 12 | g.51920877C>G | CA384906291 | ACVRL1 | c.1226C>G (p.Pro409Arg) c.1496C>G (p.Pro499Arg) c.974C>G (p.Pro325Arg) c.1538C>G (p.Pro513Arg) c.707C>G (p.Pro236Arg) | |
| 12 | g.51920877C>T | CA384906293 | ACVRL1 | c.1226C>T (p.Pro409Leu) c.1496C>T (p.Pro499Leu) c.974C>T (p.Pro325Leu) c.1538C>T (p.Pro513Leu) c.707C>T (p.Pro236Leu) | |
| 12 | g.51920878T>A | CA479817314 | ACVRL1 | c.1227T>A (p.Pro409=) c.1497T>A (p.Pro499=) c.975T>A (p.Pro325=) c.1539T>A (p.Pro513=) c.708T>A (p.Pro236=) | |
| 12 | g.51920878T>C | CA479817321 | ACVRL1 | c.1227T>C (p.Pro409=) c.1497T>C (p.Pro499=) c.975T>C (p.Pro325=) c.1539T>C (p.Pro513=) c.708T>C (p.Pro236=) | ClinVar gnomAD v4 |
| 12 | g.51920878T>G | CA479817318 | ACVRL1 | c.1227T>G (p.Pro409=) c.1497T>G (p.Pro499=) c.975T>G (p.Pro325=) c.1539T>G (p.Pro513=) c.708T>G (p.Pro236=) | |
| 12 | g.51920879A>C | CA384906296 | ACVRL1 | c.1228A>C (p.Lys410Gln) c.1498A>C (p.Lys500Gln) c.976A>C (p.Lys326Gln) c.1540A>C (p.Lys514Gln) c.709A>C (p.Lys237Gln) | |
| 12 | g.51920879A>G | CA384906302 | ACVRL1 | c.1228A>G (p.Lys410Glu) c.1498A>G (p.Lys500Glu) c.976A>G (p.Lys326Glu) c.1540A>G (p.Lys514Glu) c.709A>G (p.Lys237Glu) | |
| 12 | g.51920879A>T | CA384906306 | ACVRL1 | c.1228A>T (p.Lys410Ter) c.1498A>T (p.Lys500Ter) c.976A>T (p.Lys326Ter) c.1540A>T (p.Lys514Ter) c.709A>T (p.Lys237Ter) | |
| 12 | g.51920880A>C | CA384906307 | ACVRL1 | c.1229A>C (p.Lys410Thr) c.1499A>C (p.Lys500Thr) c.977A>C (p.Lys326Thr) c.1541A>C (p.Lys514Thr) c.710A>C (p.Lys237Thr) | |
| 12 | g.51920880A>G | CA384906308 | ACVRL1 | c.1229A>G (p.Lys410Arg) c.1499A>G (p.Lys500Arg) c.977A>G (p.Lys326Arg) c.1541A>G (p.Lys514Arg) c.710A>G (p.Lys237Arg) | |
| 12 | g.51920880A>T | CA384906309 | ACVRL1 | c.1229A>T (p.Lys410Ile) c.1499A>T (p.Lys500Ile) c.977A>T (p.Lys326Ile) c.1541A>T (p.Lys514Ile) c.710A>T (p.Lys237Ile) | |
| 12 | g.51920881A= | CA2036241989 | ACVRL1 | c.1230A= (p.Lys410=) c.1500A= (p.Lys500=) c.978A= (p.Lys326=) c.1542A= (p.Lys514=) c.711A= (p.Lys237=) | |
| 12 | g.51920881A>C | CA384906311 | ACVRL1 | c.1230A>C (p.Lys410Asn) c.1500A>C (p.Lys500Asn) c.978A>C (p.Lys326Asn) c.1542A>C (p.Lys514Asn) c.711A>C (p.Lys237Asn) | |
| 12 | g.51920881A>G | CA479817355 | ACVRL1 | c.1230A>G (p.Lys410=) c.1500A>G (p.Lys500=) c.978A>G (p.Lys326=) c.1542A>G (p.Lys514=) c.711A>G (p.Lys237=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920881A>T | CA384906310 | ACVRL1 | c.1230A>T (p.Lys410Asn) c.1500A>T (p.Lys500Asn) c.978A>T (p.Lys326Asn) c.1542A>T (p.Lys514Asn) c.711A>T (p.Lys237Asn) | |
| 12 | g.51920881_51920882insCCAAACACACCCAACACA | CA2795983809 | ACVRL1 | c.1230_1231insCCAAACACACCCAACACA (p.Lys410_Val411insProAsnThrProAsnThr) c.1500_1501insCCAAACACACCCAACACA (p.Lys500_Val501insProAsnThrProAsnThr) c.978_979insCCAAACACACCCAACACA (p.Lys326_Val327insProAsnThrProAsnThr) c.1542_1543insCCAAACACACCCAACACA (p.Lys514_Val515insProAsnThrProAsnThr) c.711_712insCCAAACACACCCAACACA (p.Lys237_Val238insProAsnThrProAsnThr) | |
| 12 | g.51920881_51920882insACCAAACACACCCAACACA | CA2795983808 | ACVRL1 | c.1230_1231insACCAAACACACCCAACACA (p.Val411ThrfsTer?) c.1500_1501insACCAAACACACCCAACACA (p.Val501ThrfsTer?) c.978_979insACCAAACACACCCAACACA (p.Val327ThrfsTer?) c.1542_1543insACCAAACACACCCAACACA (p.Val515ThrfsTer?) c.711_712insACCAAACACACCCAACACA (p.Val238ThrfsTer?) | |
| 12 | g.51920882G>A | CA384906312 | ACVRL1 | c.1231G>A (p.Val411Met) c.1501G>A (p.Val501Met) c.979G>A (p.Val327Met) c.1543G>A (p.Val515Met) c.712G>A (p.Val238Met) | |
| 12 | g.51920882G>C | CA384906313 | ACVRL1 | c.1231G>C (p.Val411Leu) c.1501G>C (p.Val501Leu) c.979G>C (p.Val327Leu) c.1543G>C (p.Val515Leu) c.712G>C (p.Val238Leu) | |
| 12 | g.51920882G>T | CA384906314 | ACVRL1 | c.1231G>T (p.Val411Leu) c.1501G>T (p.Val501Leu) c.979G>T (p.Val327Leu) c.1543G>T (p.Val515Leu) c.712G>T (p.Val238Leu) | |
| 12 | g.51920883T>A | CA384906315 | ACVRL1 | c.1232T>A (p.Val411Glu) c.1502T>A (p.Val501Glu) c.980T>A (p.Val327Glu) c.1544T>A (p.Val515Glu) c.713T>A (p.Val238Glu) | |
| 12 | g.51920883T>C | CA384906326 | ACVRL1 | c.1232T>C (p.Val411Ala) c.1502T>C (p.Val501Ala) c.980T>C (p.Val327Ala) c.1544T>C (p.Val515Ala) c.713T>C (p.Val238Ala) | |
| 12 | g.51920883T>G | CA384906330 | ACVRL1 | c.1232T>G (p.Val411Gly) c.1502T>G (p.Val501Gly) c.980T>G (p.Val327Gly) c.1544T>G (p.Val515Gly) c.713T>G (p.Val238Gly) | |
| 12 | g.51920884G>A | CA236367800 | ACVRL1 | c.1233G>A (p.Val411=) c.1503G>A (p.Val501=) c.981G>A (p.Val327=) c.1545G>A (p.Val515=) c.714G>A (p.Val238=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920884G>C | CA479817379 | ACVRL1 | c.1233G>C (p.Val411=) c.1503G>C (p.Val501=) c.981G>C (p.Val327=) c.1545G>C (p.Val515=) c.714G>C (p.Val238=) | |
| 12 | g.51920884G= | CA2036241992 | ACVRL1 | c.1233G= (p.Val411=) c.1503G= (p.Val501=) c.981G= (p.Val327=) c.1545G= (p.Val515=) c.714G= (p.Val238=) | |
| 12 | g.51920884G>T | CA479817384 | ACVRL1 | c.1233G>T (p.Val411=) c.1503G>T (p.Val501=) c.981G>T (p.Val327=) c.1545G>T (p.Val515=) c.714G>T (p.Val238=) | gnomAD v4 |
| 12 | g.51920885A>C | CA384906332 | ACVRL1 | c.1234A>C (p.Ile412Leu) c.1504A>C (p.Ile502Leu) c.982A>C (p.Ile328Leu) c.1546A>C (p.Ile516Leu) c.715A>C (p.Ile239Leu) | COSMIC COSMIC |
| 12 | g.51920885A>G | CA384906334 | ACVRL1 | c.1234A>G (p.Ile412Val) c.1504A>G (p.Ile502Val) c.982A>G (p.Ile328Val) c.1546A>G (p.Ile516Val) c.715A>G (p.Ile239Val) | |
| 12 | g.51920885A>T | CA384906333 | ACVRL1 | c.1234A>T (p.Ile412Phe) c.1504A>T (p.Ile502Phe) c.982A>T (p.Ile328Phe) c.1546A>T (p.Ile516Phe) c.715A>T (p.Ile239Phe) | |
| 12 | g.51920886T>A | CA384906335 | ACVRL1 | c.1235T>A (p.Ile412Asn) c.1505T>A (p.Ile502Asn) c.983T>A (p.Ile328Asn) c.1547T>A (p.Ile516Asn) c.716T>A (p.Ile239Asn) | |
| 12 | g.51920886T>C | CA384906337 | ACVRL1 | c.1235T>C (p.Ile412Thr) c.1505T>C (p.Ile502Thr) c.983T>C (p.Ile328Thr) c.1547T>C (p.Ile516Thr) c.716T>C (p.Ile239Thr) | |
| 12 | g.51920886T>G | CA384906339 | ACVRL1 | c.1235T>G (p.Ile412Ser) c.1505T>G (p.Ile502Ser) c.983T>G (p.Ile328Ser) c.1547T>G (p.Ile516Ser) c.716T>G (p.Ile239Ser) | gnomAD v4 |
| 12 | g.51920887T>A | CA479817400 | ACVRL1 | c.1236T>A (p.Ile412=) c.1506T>A (p.Ile502=) c.984T>A (p.Ile328=) c.1548T>A (p.Ile516=) c.717T>A (p.Ile239=) | |
| 12 | g.51920887T>C | CA479817404 | ACVRL1 | c.1236T>C (p.Ile412=) c.1506T>C (p.Ile502=) c.984T>C (p.Ile328=) c.1548T>C (p.Ile516=) c.717T>C (p.Ile239=) | |
| 12 | g.51920887T>G | CA384906343 | ACVRL1 | c.1236T>G (p.Ile412Met) c.1506T>G (p.Ile502Met) c.984T>G (p.Ile328Met) c.1548T>G (p.Ile516Met) c.717T>G (p.Ile239Met) | |
| 12 | g.51920888C>A | CA384906344 | ACVRL1 | c.1237C>A (p.Gln413Lys) c.1507C>A (p.Gln503Lys) c.985C>A (p.Gln329Lys) c.1549C>A (p.Gln517Lys) c.718C>A (p.Gln240Lys) | gnomAD v4 |
| 12 | g.51920888C= | CA2036241998 | ACVRL1 | c.1237C= (p.Gln413=) c.1507C= (p.Gln503=) c.985C= (p.Gln329=) c.1549C= (p.Gln517=) c.718C= (p.Gln240=) | |
| 12 | g.51920888C>G | CA384906346 | ACVRL1 | c.1237C>G (p.Gln413Glu) c.1507C>G (p.Gln503Glu) c.985C>G (p.Gln329Glu) c.1549C>G (p.Gln517Glu) c.718C>G (p.Gln240Glu) | |
| 12 | g.51920888C>T | CA384906345 | ACVRL1 | c.1237C>T (p.Gln413Ter) c.1507C>T (p.Gln503Ter) c.985C>T (p.Gln329Ter) c.1549C>T (p.Gln517Ter) c.718C>T (p.Gln240Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.51920889A>C | CA384906348 | ACVRL1 | c.1238A>C (p.Gln413Pro) c.1508A>C (p.Gln503Pro) c.986A>C (p.Gln329Pro) c.1550A>C (p.Gln517Pro) c.719A>C (p.Gln240Pro) | |
| 12 | g.51920889A>G | CA384906350 | ACVRL1 | c.1238A>G (p.Gln413Arg) c.1508A>G (p.Gln503Arg) c.986A>G (p.Gln329Arg) c.1550A>G (p.Gln517Arg) c.719A>G (p.Gln240Arg) | gnomAD v4 |
| 12 | g.51920889A>T | CA384906351 | ACVRL1 | c.1238A>T (p.Gln413Leu) c.1508A>T (p.Gln503Leu) c.986A>T (p.Gln329Leu) c.1550A>T (p.Gln517Leu) c.719A>T (p.Gln240Leu) | gnomAD v4 |
| 12 | g.51920890A= | CA2036242003 | ACVRL1 | c.1239A= (p.Gln413=) c.1509A= (p.Gln503=) c.987A= (p.Gln329=) c.1551A= (p.Gln517=) c.720A= (p.Gln240=) | |
| 12 | g.51920890A>C | CA384906354 | ACVRL1 | c.1239A>C (p.Gln413His) c.1509A>C (p.Gln503His) c.987A>C (p.Gln329His) c.1551A>C (p.Gln517His) c.720A>C (p.Gln240His) | |
| 12 | g.51920890A>G | CA6573180 | ACVRL1 | c.1239A>G (p.Gln413=) c.1509A>G (p.Gln503=) c.987A>G (p.Gln329=) c.1551A>G (p.Gln517=) c.720A>G (p.Gln240=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920890A>T | CA384906358 | ACVRL1 | c.1239A>T (p.Gln413His) c.1509A>T (p.Gln503His) c.987A>T (p.Gln329His) c.1551A>T (p.Gln517His) c.720A>T (p.Gln240His) | |
| 12 | g.51920891T>A | CA384906362 | ACVRL1 | c.1240T>A (p.Ter414Lys) c.1510T>A (p.Ter504Lys) c.988T>A (p.Ter330Lys) c.1552T>A (p.Ter518Lys) c.721T>A (p.Ter241Lys) | |
| 12 | g.51920891T>C | CA384906366 | ACVRL1 | c.1240T>C (p.Ter414Gln) c.1510T>C (p.Ter504Gln) c.988T>C (p.Ter330Gln) c.1552T>C (p.Ter518Gln) c.721T>C (p.Ter241Gln) | |
| 12 | g.51920891T>G | CA384906371 | ACVRL1 | c.1240T>G (p.Ter414Glu) c.1510T>G (p.Ter504Glu) c.988T>G (p.Ter330Glu) c.1552T>G (p.Ter518Glu) c.721T>G (p.Ter241Glu) | |
| 12 | g.51920892A>C | CA384906374 | ACVRL1 | c.1241A>C (p.Ter414Ser) c.1511A>C (p.Ter504Ser) c.989A>C (p.Ter330Ser) c.1553A>C (p.Ter518Ser) c.722A>C (p.Ter241Ser) | |
| 12 | g.51920892A>G | CA384906377 | ACVRL1 | c.1241A>G (p.Ter414Trp) c.1511A>G (p.Ter504Trp) c.989A>G (p.Ter330Trp) c.1553A>G (p.Ter518Trp) c.722A>G (p.Ter241Trp) | gnomAD v4 |
| 12 | g.51920892A>T | CA384906379 | ACVRL1 | c.1241A>T (p.Ter414Leu) c.1511A>T (p.Ter504Leu) c.989A>T (p.Ter330Leu) c.1553A>T (p.Ter518Leu) c.722A>T (p.Ter241Leu) | |
| 12 | g.51920893G>A | CA479817426 | ACVRL1 | c.1242G>A (p.Ter414=) c.1512G>A (p.Ter504=) c.990G>A (p.Ter330=) c.1554G>A (p.Ter518=) c.723G>A (p.Ter241=) | |
| 12 | g.51920893G>C | CA384906384 | ACVRL1 | c.1242G>C (p.Ter414Tyr) c.1512G>C (p.Ter504Tyr) c.990G>C (p.Ter330Tyr) c.1554G>C (p.Ter518Tyr) c.723G>C (p.Ter241Tyr) | |
| 12 | g.51920893G>T | CA384906383 | ACVRL1 | c.1242G>T (p.Ter414Tyr) c.1512G>T (p.Ter504Tyr) c.990G>T (p.Ter330Tyr) c.1554G>T (p.Ter518Tyr) c.723G>T (p.Ter241Tyr) | gnomAD v4 |
| 12 | g.51920894C>A | CA2618860386 | ACVRL1 | c.*1C>A (n.*1C>A) | gnomAD v4 |
| 12 | g.51920894C= | CA2036242006 | ACVRL1 | c.*1C= (n.*1C=) | |
| 12 | g.51920894C>G | CA6573181 | ACVRL1 | c.*1C>G (n.*1C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920896C>A | CA2499340174 | ACVRL1 | c.*3C>A (n.*3C>A) | gnomAD v4 |
| 12 | g.51920897A>T | CA2530592287 | ACVRL1 | c.*4A>T (n.*4A>T) | gnomAD v4 |
| 12 | g.51920898G>A | CA236367806 | ACVRL1 | c.*5G>A (n.*5G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920898G= | CA2036242010 | ACVRL1 | c.*5G= (n.*5G=) | |
| 12 | g.51920898G>T | CA2618860387 | ACVRL1 | c.*5G>T (n.*5G>T) | gnomAD v4 |
| 12 | g.51920899G>A | CA605053086 | ACVRL1 | c.*6G>A (n.*6G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920899G= | CA2036242012 | ACVRL1 | c.*6G= (n.*6G=) | |
| 12 | g.51920899G>T | CA2618860388 | ACVRL1 | c.*6G>T (n.*6G>T) | gnomAD v4 |
| 12 | g.51920900A>G | CA2618860390 | ACVRL1 | c.*7A>G (n.*7A>G) | gnomAD v4 |
| 12 | g.51920900_51920924del | CA2618860389 | ACVRL1 | c.*7_*31del (n.*7_*31del) | gnomAD v4 |
| 12 | g.51920901G>A | CA605053087 | ACVRL1 | c.*8G>A (n.*8G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920901G= | CA2036242015 | ACVRL1 | c.*8G= (n.*8G=) | |
| 12 | g.51920903A= | CA2036242017 | ACVRL1 | c.*10A= (n.*10A=) | |
| 12 | g.51920903A>C | CA947668927 | ACVRL1 | c.*10A>C (n.*10A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920904C>A | CA2618860391 | ACVRL1 | c.*11C>A (n.*11C>A) | gnomAD v4 |
| 12 | g.51920905C>A | CA2618860392 | ACVRL1 | c.*12C>A (n.*12C>A) | gnomAD v4 |
| 12 | g.51920905C= | CA2036242018 | ACVRL1 | c.*12C= (n.*12C=) | |
| 12 | g.51920905C>T | CA605053088 | ACVRL1 | c.*12C>T (n.*12C>T) | dbSNP gnomAD v2 |
| 12 | g.51920906del | CA2568801849 | ACVRL1 | c.*13del (n.*13del) | |
| 12 | g.51920906T>C | CA2575161681 | ACVRL1 | c.*13T>C (n.*13T>C) | gnomAD v4 |
| 12 | g.51920907G>A | CA605053089 | ACVRL1 | c.*14G>A (n.*14G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920907G= | CA2036242021 | ACVRL1 | c.*14G= (n.*14G=) | |
| 12 | g.51920907G>T | CA2618860393 | ACVRL1 | c.*14G>T (n.*14G>T) | gnomAD v4 |
| 12 | g.51920908A>T | CA2618860394 | ACVRL1 | c.*15A>T (n.*15A>T) | gnomAD v4 |
| 12 | g.51920909T>C | CA6573182 | ACVRL1 | c.*16T>C (n.*16T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920909T>G | CA2618860395 | ACVRL1 | c.*16T>G (n.*16T>G) | gnomAD v4 |
| 12 | g.51920909T= | CA2036242024 | ACVRL1 | c.*16T= (n.*16T=) | |
| 12 | g.51920910T>C | CA947668931 | ACVRL1 | c.*17T>C (n.*17T>C) | gnomAD v3 gnomAD v4 |
| 12 | g.51920910T>G | CA2618860396 | ACVRL1 | c.*17T>G (n.*17T>G) | gnomAD v4 |
| 12 | g.51920911C>A | CA2618860397 | ACVRL1 | c.*18C>A (n.*18C>A) | gnomAD v4 |
| 12 | g.51920911C= | CA2036242029 | ACVRL1 | c.*18C= (n.*18C=) | |
| 12 | g.51920911C>T | CA605053091 | ACVRL1 | c.*18C>T (n.*18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920912C>A | CA2618860398 | ACVRL1 | c.*19C>A (n.*19C>A) | gnomAD v4 |
| 12 | g.51920912C= | CA2036242031 | ACVRL1 | c.*19C= (n.*19C=) | |
| 12 | g.51920912C>T | CA605053092 | ACVRL1 | c.*19C>T (n.*19C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920913T>C | CA2618860399 | ACVRL1 | c.*20T>C (n.*20T>C) | gnomAD v4 |
| 12 | g.51920914T>C | CA2618860400 | ACVRL1 | c.*21T>C (n.*21T>C) | gnomAD v4 |
| 12 | g.51920914T>G | CA2618860401 | ACVRL1 | c.*21T>G (n.*21T>G) | gnomAD v4 |
| 12 | g.51920915T>G | CA2618860402 | ACVRL1 | c.*22T>G (n.*22T>G) | gnomAD v4 |
| 12 | g.51920916C>A | CA2618860404 | ACVRL1 | c.*23C>A (n.*23C>A) | gnomAD v4 |
| 12 | g.51920916C= | CA2036242032 | ACVRL1 | c.*23C= (n.*23C=) | |
| 12 | g.51920916C>G | CA2618860405 | ACVRL1 | c.*23C>G (n.*23C>G) | gnomAD v4 |
| 12 | g.51920916C>T | CA605053094 | ACVRL1 | c.*23C>T (n.*23C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920924_51921022del | CA2618860403 | ACVRL1 | c.*31_*129del (n.*31_*129del) | gnomAD v4 |
| 12 | g.51920917T>A | CA2618860406 | ACVRL1 | c.*24T>A (n.*24T>A) | gnomAD v4 |
| 12 | g.51920917T>C | CA2575161683 | ACVRL1 | c.*24T>C (n.*24T>C) | |
| 12 | g.51920917T>G | CA947668933 | ACVRL1 | c.*24T>G (n.*24T>G) | gnomAD v3 gnomAD v4 |
| 12 | g.51920918G>A | CA6573183 | ACVRL1 | c.*25G>A (n.*25G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.51920918G>C | CA947668936 | ACVRL1 | c.*25G>C (n.*25G>C) | gnomAD v3 gnomAD v4 |
| 12 | g.51920918G= | CA2036242034 | ACVRL1 | c.*25G= (n.*25G=) | |
| 12 | g.51920918G>T | CA2618860408 | ACVRL1 | c.*25G>T (n.*25G>T) | gnomAD v4 |
| 12 | g.51920919C>A | CA2618860409 | ACVRL1 | c.*26C>A (n.*26C>A) | gnomAD v4 |
| 12 | g.51920919C= | CA2036242037 | ACVRL1 | c.*26C= (n.*26C=) | |
| 12 | g.51920919C>G | CA2618860410 | ACVRL1 | c.*26C>G (n.*26C>G) | gnomAD v4 |
| 12 | g.51920919C>T | CA689770027 | ACVRL1 | c.*26C>T (n.*26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920919_51920920insGGG | CA2618860413 | ACVRL1 | c.*26_*27insGGG (n.*26_*27insGGG) | gnomAD v4 |
| 12 | g.51920919_51920920insGGGGGGGGGG | CA2618860412 | ACVRL1 | c.*26_*27insGGGGGGGGGG (n.*26_*27insGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920920C>A | CA2575161684 | ACVRL1 | c.*27C>A (n.*27C>A) | gnomAD v4 |
| 12 | g.51920920C= | CA2036242039 | ACVRL1 | c.*27C= (n.*27C=) | |
| 12 | g.51920920C>G | CA605053095 | ACVRL1 | c.*27C>G (n.*27C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920920C>T | CA2618860411 | ACVRL1 | c.*27C>T (n.*27C>T) | gnomAD v4 |
| 12 | g.51920920_51920921insGGAGGGG | CA2795983819 | ACVRL1 | c.*27_*28insGGAGGGG (n.*27_*28insGGAGGGG) | |
| 12 | g.51920920_51920921insGGGGGGG | CA2618860414 | ACVRL1 | c.*27_*28insGGGGGGG (n.*27_*28insGGGGGGG) | gnomAD v4 |
| 12 | g.51920921del | CA947668941 | ACVRL1 | c.*28del (n.*28del) | gnomAD v3 gnomAD v4 |
| 12 | g.51920921T>A | CA2618860415 | ACVRL1 | c.*28T>A (n.*28T>A) | gnomAD v4 |
| 12 | g.51920921T>C | CA2618860416 | ACVRL1 | c.*28T>C (n.*28T>C) | gnomAD v4 |
| 12 | g.51920921T>G | CA605053096 | ACVRL1 | c.*28T>G (n.*28T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920921T= | CA2036242041 | ACVRL1 | c.*28T= (n.*28T=) | |
| 12 | g.51920921dup | CA654740848 | ACVRL1 | c.*28dup (n.*28dup) | COSMIC |
| 12 | g.51920921_51920922insCGGG | CA2618860417 | ACVRL1 | c.*28_*29insCGGG (n.*28_*29insCGGG) | gnomAD v4 |
| 12 | g.51920922G>A | CA2618860419 | ACVRL1 | c.*29G>A (n.*29G>A) | gnomAD v4 |
| 12 | g.51920922G>C | CA2618860420 | ACVRL1 | c.*29G>C (n.*29G>C) | gnomAD v4 |
| 12 | g.51920922G>T | CA2618860421 | ACVRL1 | c.*29G>T (n.*29G>T) | gnomAD v4 |
| 12 | g.51920922_51920923insAGGGGGG | CA2795983823 | ACVRL1 | c.*29_*30insAGGGGGG (n.*29_*30insAGGGGGG) | |
| 12 | g.51920922_51920923delinsGC | CA2036242043 | ACVRL1 | c.*29_*30delinsGC (n.*29_*30delinsGC) | |
| 12 | g.51920926_51920948del | CA2618860418 | ACVRL1 | c.*33_*55del (n.*33_*55del) | gnomAD v4 |
| 12 | g.51920923del | CA605053099 | ACVRL1 | c.*30del (n.*30del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920923C>A | CA605053101 | ACVRL1 | c.*30C>A (n.*30C>A) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920923C= | CA2036242048 | ACVRL1 | c.*30C= (n.*30C=) | |
| 12 | g.51920923C>G | CA605053100 | ACVRL1 | c.*30C>G (n.*30C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920923C>T | CA479817448 | ACVRL1 | c.*30C>T (n.*30C>T) | gnomAD v2 gnomAD v4 |
| 12 | g.51920923_51920924del | CA913722282 | ACVRL1 | c.*30_*31del (n.*30_*31del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920923_51920924insGGG | CA2618860425 | ACVRL1 | c.*30_*31insGGG (n.*30_*31insGGG) | gnomAD v4 |
| 12 | g.51920923_51920924insGGGGGG | CA2618860422 | ACVRL1 | c.*30_*31insGGGGGG (n.*30_*31insGGGGGG) | gnomAD v4 |
| 12 | g.51920923_51920924insGGGGGGGG | CA2618860423 | ACVRL1 | c.*30_*31insGGGGGGGG (n.*30_*31insGGGGGGGG) | gnomAD v4 |
| 12 | g.51920923_51920924insGGGGGTCTGGGGGGTG | CA2618860424 | ACVRL1 | c.*30_*31insGGGGGTCTGGGGGGTG (n.*30_*31insGGGGGTCTGGGGGGTG) | gnomAD v4 |
| 12 | g.51920924del | CA605053105 | ACVRL1 | c.*31del (n.*31del) | gnomAD v2 gnomAD v4 |
| 12 | g.51920924A= | CA2036242052 | ACVRL1 | c.*31A= (n.*31A=) | |
| 12 | g.51920924A>C | CA947668949 | ACVRL1 | c.*31A>C (n.*31A>C) | gnomAD v3 gnomAD v4 |
| 12 | g.51920924A>G | CA605053104 | ACVRL1 | c.*31A>G (n.*31A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920924A>T | CA2575161685 | ACVRL1 | c.*31A>T (n.*31A>T) | gnomAD v4 |
| 12 | g.51920924_51920925insCC | CA2565638294 | ACVRL1 | c.*31_*32insCC (n.*31_*32insCC) | |
| 12 | g.51920925G>A | CA2618860428 | ACVRL1 | c.*32G>A (n.*32G>A) | gnomAD v4 |
| 12 | g.51920925G>T | CA2618860427 | ACVRL1 | c.*32G>T (n.*32G>T) | gnomAD v4 |
| 12 | g.51920925_51920926insTGGGGGGGGGGGGG | CA2795983830 | ACVRL1 | c.*32_*33insTGGGGGGGGGGGGG (n.*32_*33insTGGGGGGGGGGGGG) | |
| 12 | g.51920926_51920927insTTTCTGGGG | CA2618860435 | ACVRL1 | c.*33_*34insTTTCTGGGG (n.*33_*34insTTTCTGGGG) | gnomAD v4 |
| 12 | g.51920927_51920928insAGCCGGGGGG | CA605053108 | ACVRL1 | c.*34_*35insAGCCGGGGGG (n.*34_*35insAGCCGGGGGG) | dbSNP gnomAD v2 |
| 12 | g.51920928_51920929insCAGGGGGGG | CA2618860434 | ACVRL1 | c.*35_*36insCAGGGGGGG (n.*35_*36insCAGGGGGGG) | gnomAD v4 |
| 12 | g.51920929_51920930insGGGGGGGG | CA2618860433 | ACVRL1 | c.*36_*37insGGGGGGGG (n.*36_*37insGGGGGGGG) | gnomAD v4 |
| 12 | g.51920929_51920930insTGGGGGGGG | CA2618860430 | ACVRL1 | c.*36_*37insTGGGGGGGG (n.*36_*37insTGGGGGGGG) | gnomAD v4 |
| 12 | g.51920929_51920930insGTGGGGGGGGGGGGGG | CA2618860431 | ACVRL1 | c.*36_*37insGTGGGGGGGGGGGGGG (n.*36_*37insGTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920929dup | CA2618860432 | ACVRL1 | c.*36dup (n.*36dup) | gnomAD v4 |
| 12 | g.51920929del | CA605053106 | ACVRL1 | c.*36del (n.*36del) | gnomAD v2 gnomAD v4 |
| 12 | g.51920930_51920931insAGGGGGGGC | CA947668957 | ACVRL1 | c.*37_*38insAGGGGGGGC (n.*37_*38insAGGGGGGGC) | gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920937del | CA2618860429 | ACVRL1 | c.*37_*44del (n.*37_*44del) | gnomAD v4 |
| 12 | g.51920930_51920938del | CA2618860426 | ACVRL1 | c.*37_*45del (n.*37_*45del) | gnomAD v4 |
| 12 | g.51920931_51920946del | CA2575161686 | ACVRL1 | c.*38_*53del (n.*38_*53del) | gnomAD v4 |
| 12 | g.51920926G>A | CA2618860436 | ACVRL1 | c.*33G>A (n.*33G>A) | gnomAD v4 |
| 12 | g.51920926G>C | CA236367820 | ACVRL1 | c.*33G>C (n.*33G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920926G= | CA2036242056 | ACVRL1 | c.*33G= (n.*33G=) | |
| 12 | g.51920926G>T | CA2618860437 | ACVRL1 | c.*33G>T (n.*33G>T) | gnomAD v4 |
| 12 | g.51920927G>A | CA2618860438 | ACVRL1 | c.*34G>A (n.*34G>A) | gnomAD v4 |
| 12 | g.51920927G>C | CA2575161687 | ACVRL1 | c.*34G>C (n.*34G>C) | gnomAD v4 |
| 12 | g.51920927G= | CA2036242058 | ACVRL1 | c.*34G= (n.*34G=) | |
| 12 | g.51920927G>T | CA605053110 | ACVRL1 | c.*34G>T (n.*34G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920930_51920968del | CA2618860439 | ACVRL1 | c.*37_*75del (n.*37_*75del) | gnomAD v4 |
| 12 | g.51920928G>A | CA605053112 | ACVRL1 | c.*35G>A (n.*35G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920928G= | CA2036242061 | ACVRL1 | c.*35G= (n.*35G=) | |
| 12 | g.51920928G>T | CA2575161688 | ACVRL1 | c.*35G>T (n.*35G>T) | gnomAD v4 |
| 12 | g.51920929G>A | CA605053114 | ACVRL1 | c.*36G>A (n.*36G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920929G>C | CA605053116 | ACVRL1 | c.*36G>C (n.*36G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920929G= | CA2036242063 | ACVRL1 | c.*36G= (n.*36G=) | |
| 12 | g.51920929G>T | CA6573184 | ACVRL1 | c.*36G>T (n.*36G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920929_51920930del | CA2618860440 | ACVRL1 | c.*36_*37del (n.*36_*37del) | gnomAD v4 |
| 12 | g.51920929_51920931delinsGCT | CA2036242068 | ACVRL1 | c.*36_*38delinsGCT (n.*36_*38delinsGCT) | |
| 12 | g.51920936_51921000del | CA2618860441 | ACVRL1 | c.*43_*107del (n.*43_*107del) | gnomAD v4 |
| 12 | g.51920930del | CA605053120 | ACVRL1 | c.*37del (n.*37del) | gnomAD v2 gnomAD v4 |
| 12 | g.51920930C>A | CA2618860442 | ACVRL1 | c.*37C>A (n.*37C>A) | gnomAD v4 |
| 12 | g.51920930C= | CA2036242073 | ACVRL1 | c.*37C= (n.*37C=) | |
| 12 | g.51920930C>G | CA6573186 | ACVRL1 | c.*37C>G (n.*37C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930C>T | CA605053118 | ACVRL1 | c.*37C>T (n.*37C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920931del | CA605053121 | ACVRL1 | c.*37_*38del (n.*37_*38del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920938delinsCTGGGGGGG | CA2036242071 | ACVRL1 | c.*37_*45delinsCTGGGGGGG (n.*37_*45delinsCTGGGGGGG) | |
| 12 | g.51920935_51920968del | CA2618860443 | ACVRL1 | c.*42_*75del (n.*42_*75del) | gnomAD v4 |
| 12 | g.51920930_51920931insG | CA2618860470 | ACVRL1 | c.*37_*38insG (n.*37_*38insG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGG | CA2618860471 | ACVRL1 | c.*37_*38insGGG (n.*37_*38insGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGG | CA2618860473 | ACVRL1 | c.*37_*38insGGGG (n.*37_*38insGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGG | CA2618860474 | ACVRL1 | c.*37_*38insGGGGG (n.*37_*38insGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGG | CA2618860475 | ACVRL1 | c.*37_*38insGGGGGG (n.*37_*38insGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insAGGGGGG | CA2618860447 | ACVRL1 | c.*37_*38insAGGGGGG (n.*37_*38insAGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGG | CA605053127 | ACVRL1 | c.*37_*38insGGGGGGG (n.*37_*38insGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGG | CA2618860476 | ACVRL1 | c.*37_*38insGGGGGGGG (n.*37_*38insGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGG | CA605053130 | ACVRL1 | c.*37_*38insGGGGGGGGG (n.*37_*38insGGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGG | CA2618860478 | ACVRL1 | c.*37_*38insGGGGGGGGGG (n.*37_*38insGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insCGGGGGGGGGG | CA2741254249 | ACVRL1 | c.*37_*38insCGGGGGGGGGG (n.*37_*38insCGGGGGGGGGG) | |
| 12 | g.51920930_51920931insGGGGGGGGGGG | CA605053125 | ACVRL1 | c.*37_*38insGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920930_51920931insCGGGGGGGGGGG | CA2618860469 | ACVRL1 | c.*37_*38insCGGGGGGGGGGG (n.*37_*38insCGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGG | CA2618860481 | ACVRL1 | c.*37_*38insGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGG) | dbSNP gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGG | CA2618860465 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGGG | CA2618860467 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGGGG | CA2618860462 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGGGGG | CA2618860460 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGGGGGGG | CA2618860458 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGAGGGGGGG | CA2618860480 | ACVRL1 | c.*37_*38insGGGGGGGGGGGAGGGGGGG (n.*37_*38insGGGGGGGGGGGAGGGGGGG) | gnomAD v4 |
| 12 | g.51920930_51920931insGGGGGGGGGGGGGGGGGGG | CA2618860457 | ACVRL1 | c.*37_*38insGGGGGGGGGGGGGGGGGGG (n.*37_*38insGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920931del | CA2575161689 | ACVRL1 | c.*38del (n.*38del) | gnomAD v4 |
| 12 | g.51920931T>A | CA2618860449 | ACVRL1 | c.*38T>A (n.*38T>A) | gnomAD v4 |
| 12 | g.51920931T>C | CA2618860448 | ACVRL1 | c.*38T>C (n.*38T>C) | gnomAD v4 |
| 12 | g.51920931T>G | CA6573189 | ACVRL1 | c.*38T>G (n.*38T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920931T= | CA2036242078 | ACVRL1 | c.*38T= (n.*38T=) | |
| 12 | g.51920931_51920932delinsTG | CA2036242079 | ACVRL1 | c.*38_*39delinsTG (n.*38_*39delinsTG) | |
| 12 | g.51920937_51920938insTTGGGGGG | CA2618860454 | ACVRL1 | c.*44_*45insTTGGGGGG (n.*44_*45insTTGGGGGG) | gnomAD v4 |
| 12 | g.51920931_51920937dup | CA2618860456 | ACVRL1 | c.*38_*44dup (n.*38_*44dup) | gnomAD v4 |
| 12 | g.51920938_51920939insGGTGGGGGGG | CA2618860455 | ACVRL1 | c.*45_*46insGGTGGGGGGG (n.*45_*46insGGTGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920945del | CA6573185 | ACVRL1 | c.*45_*52del (n.*45_*52del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920931_51920932insTGGGGGTG | CA2618860698 | ACVRL1 | c.*38_*39insTGGGGGTG (n.*38_*39insTGGGGGTG) | gnomAD v4 |
| 12 | g.51920931_51920932insCGGGGGGCG | CA2618860735 | ACVRL1 | c.*38_*39insCGGGGGGCG (n.*38_*39insCGGGGGGCG) | gnomAD v4 |
| 12 | g.51920931_51920932insTGGGGGGTG | CA2618860699 | ACVRL1 | c.*38_*39insTGGGGGGTG (n.*38_*39insTGGGGGGTG) | gnomAD v4 |
| 12 | g.51920931_51920932insTGGGGGGGGG | CA2618860701 | ACVRL1 | c.*38_*39insTGGGGGGGGG (n.*38_*39insTGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920931_51920932insTGGGGGGGGGG | CA2618860700 | ACVRL1 | c.*38_*39insTGGGGGGGGGG (n.*38_*39insTGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920932G>A | CA6573190 | ACVRL1 | c.*39G>A (n.*39G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920932G>C | CA2618860693 | ACVRL1 | c.*39G>C (n.*39G>C) | gnomAD v4 |
| 12 | g.51920932G= | CA2036242091 | ACVRL1 | c.*39G= (n.*39G=) | |
| 12 | g.51920932G>T | CA605053135 | ACVRL1 | c.*39G>T (n.*39G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920932_51920933insTGGGGGGGGGGGG | CA2618860702 | ACVRL1 | c.*39_*40insTGGGGGGGGGGGG (n.*39_*40insTGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920933_51920934insTGGGGGGGGGGGGGGGGGGG | CA2618860692 | ACVRL1 | c.*40_*41insTGGGGGGGGGGGGGGGGGGG (n.*40_*41insTGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920934_51920935insTGGGGGGGGGG | CA2618860705 | ACVRL1 | c.*41_*42insTGGGGGGGGGG (n.*41_*42insTGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920934_51920935insTGGGGGGGGGGGGG | CA2618860704 | ACVRL1 | c.*41_*42insTGGGGGGGGGGGGG (n.*41_*42insTGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insTGGGGG | CA2618860709 | ACVRL1 | c.*42_*43insTGGGGG (n.*42_*43insTGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insCGGGGGGGGGGG | CA2618860730 | ACVRL1 | c.*42_*43insCGGGGGGGGGGG (n.*42_*43insCGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insTGGGGGGGGGGG | CA2795983885 | ACVRL1 | c.*42_*43insTGGGGGGGGGGG (n.*42_*43insTGGGGGGGGGGG) | |
| 12 | g.51920935_51920936insCGGAGGGGGGCGGGGG | CA2618860731 | ACVRL1 | c.*42_*43insCGGAGGGGGGCGGGGG (n.*42_*43insCGGAGGGGGGCGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insTGGTGGGGGGGGGGGG | CA2618860707 | ACVRL1 | c.*42_*43insTGGTGGGGGGGGGGGG (n.*42_*43insTGGTGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insTGGTGGGGGGGGGGGGGG | CA2618860706 | ACVRL1 | c.*42_*43insTGGTGGGGGGGGGGGGGG (n.*42_*43insTGGTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920935_51920936insTGGGGGGGGGGGGGGGCGGGGG | CA2618860708 | ACVRL1 | c.*42_*43insTGGGGGGGGGGGGGGGCGGGGG (n.*42_*43insTGGGGGGGGGGGGGGGCGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insCGGGGGG | CA947669036 | ACVRL1 | c.*43_*44insCGGGGGG (n.*43_*44insCGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGG | CA2618860673 | ACVRL1 | c.*43_*44insTGGGGGG (n.*43_*44insTGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGG | CA2618860674 | ACVRL1 | c.*43_*44insTGGGGGGGGG (n.*43_*44insTGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGG | CA2618860675 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGG | CA2618860676 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGG | CA947669006 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920936_51920937insCGGGGGGGGGGGGGGGG | CA2795983891 | ACVRL1 | c.*43_*44insCGGGGGGGGGGGGGGGG (n.*43_*44insCGGGGGGGGGGGGGGGG) | |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGGG | CA2618860677 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGGGG | CA2618860703 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGTGGGGGGGGGGGGGGGGG | CA2618860715 | ACVRL1 | c.*43_*44insTGTGGGGGGGGGGGGGGGGG (n.*43_*44insTGTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGGGGGGGG | CA2618860718 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGTGGGGGGGGGGGGGGGGGGGG | CA2618860713 | ACVRL1 | c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGGGGGGGGG | CA2618860717 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860716 | ACVRL1 | c.*43_*44insTGGGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGTGGGGGGGGGGGGGGGGGGGGG | CA2596578557 | ACVRL1 | c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920936_51920937insTTGGGGGGGGGGGGGGGGGGGGGG | CA2618860711 | ACVRL1 | c.*43_*44insTTGGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920936_51920937insTGTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860712 | ACVRL1 | c.*43_*44insTGTGGGGGGGGGGGGGGGGGGGGGGG (n.*43_*44insTGTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insCGGGGGGG | CA2556787602 | ACVRL1 | c.*44_*45insCGGGGGGG (n.*44_*45insCGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGG | CA947669010 | ACVRL1 | c.*44_*45insTGGGGGGG (n.*44_*45insTGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGG | CA2618860736 | ACVRL1 | c.*44_*45insTGGGGGGGG (n.*44_*45insTGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGGGG | CA2618860668 | ACVRL1 | c.*44_*45insTTGGGGGGG (n.*44_*45insTTGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGG | CA2618860691 | ACVRL1 | c.*44_*45insTGGGGGGGGG (n.*44_*45insTGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGG | CA2795983881 | ACVRL1 | c.*44_*45insTGGGGGGGGGG (n.*44_*45insTGGGGGGGGGG) | |
| 12 | g.51920937_51920938insTGGGGGGGGGGG | CA2618860690 | ACVRL1 | c.*44_*45insTGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGG | CA2618860689 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGG | CA2618860688 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGG | CA2618860687 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGG | CA2618860686 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGGGGGGGGGGG | CA2618860669 | ACVRL1 | c.*44_*45insTTGGGGGGGGGGGGGG (n.*44_*45insTTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGG | CA2618860684 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insCGGGGGGGGGGGGGGGGG | CA2618860729 | ACVRL1 | c.*44_*45insCGGGGGGGGGGGGGGGGG (n.*44_*45insCGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGG | CA2618860683 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insCGGGGGGGGGGGGGGGGGG | CA2618860719 | ACVRL1 | c.*44_*45insCGGGGGGGGGGGGGGGGGG (n.*44_*45insCGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGG | CA2618860682 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGG | CA2618860681 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGG | CA2618860680 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGGG | CA2618860679 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGGGG | CA2618860678 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGGGGGGGGGGGGGGGGGGG | CA2618860670 | ACVRL1 | c.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860666 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860667 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860671 | ACVRL1 | c.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860672 | ACVRL1 | c.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2596578556 | ACVRL1 | c.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*44_*45insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGG | CA947669017 | ACVRL1 | c.*45_*46insGGGGGGGG (n.*45_*46insGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insAGGGGGGGG | CA947669028 | ACVRL1 | c.*45_*46insAGGGGGGGG (n.*45_*46insAGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insCGGGGGGGG | CA605053140 | ACVRL1 | c.*45_*46insCGGGGGGGG (n.*45_*46insCGGGGGGGG) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGG | CA2618860720 | ACVRL1 | c.*45_*46insGGGGGGGGG (n.*45_*46insGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGAGGGGGGGG | CA947669061 | ACVRL1 | c.*45_*46insGAGGGGGGGG (n.*45_*46insGAGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGCGGGGGGGG | CA2526690872 | ACVRL1 | c.*45_*46insGCGGGGGGGG (n.*45_*46insGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGG | CA605053138 | ACVRL1 | c.*45_*46insGGGGGGGGGG (n.*45_*46insGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGTGGGGGGGG | CA2618860743 | ACVRL1 | c.*45_*46insGTGGGGGGGG (n.*45_*46insGTGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGCGGGGGGGG | CA2618860737 | ACVRL1 | c.*45_*46insGGCGGGGGGGG (n.*45_*46insGGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGG | CA605053132 | ACVRL1 | c.*45_*46insGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGG | CA919088170 | ACVRL1 | c.*45_*46insGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGG | CA2036242095 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGG) | dbSNP gnomAD v4 |
| 12 | g.51920938_51920939insGGGGAGGGGGGGGG | CA2795983897 | ACVRL1 | c.*45_*46insGGGGAGGGGGGGGG (n.*45_*46insGGGGAGGGGGGGGG) | |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGG | CA2036242092 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGTGGGGGGGG | CA2618860746 | ACVRL1 | c.*45_*46insGGGGGTGGGGGGGG (n.*45_*46insGGGGGTGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGG | CA2564020895 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insAGGGGGGCGGGGGGGG | CA2618860728 | ACVRL1 | c.*45_*46insAGGGGGGCGGGGGGGG (n.*45_*46insAGGGGGGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insAGGGGGGGGGGGGGGG | CA2618860727 | ACVRL1 | c.*45_*46insAGGGGGGGGGGGGGGG (n.*45_*46insAGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insCGGGGGGGGGGGGGGG | CA947669022 | ACVRL1 | c.*45_*46insCGGGGGGGGGGGGGGG (n.*45_*46insCGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGCGGGGGGGG | CA2618860781 | ACVRL1 | c.*45_*46insGGGGGGGCGGGGGGGG (n.*45_*46insGGGGGGGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGG | CA947669013 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGAGGGGGGGG | CA2618860784 | ACVRL1 | c.*45_*46insGGGGGGGGAGGGGGGGG (n.*45_*46insGGGGGGGGAGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGCGGGGGGGG | CA2618860788 | ACVRL1 | c.*45_*46insGGGGGGGGCGGGGGGGG (n.*45_*46insGGGGGGGGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGG | CA947669012 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGAGGGGGGGGGGGGGGG | CA2618860771 | ACVRL1 | c.*45_*46insGGAGGGGGGGGGGGGGGG (n.*45_*46insGGAGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGCGGGGGGGG | CA2618860767 | ACVRL1 | c.*45_*46insGGGGGGGGGCGGGGGGGG (n.*45_*46insGGGGGGGGGCGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGG | CA2596578558 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939insGGGCGGGGGGGGGGGGGGG | CA2618860778 | ACVRL1 | c.*45_*46insGGGCGGGGGGGGGGGGGGG (n.*45_*46insGGGCGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGG | CA2618860763 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insCGGGGGGGGGGGGGGGGGGG | CA2618860725 | ACVRL1 | c.*45_*46insCGGGGGGGGGGGGGGGGGGG (n.*45_*46insCGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGG | CA2618860761 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGCGGGGGGGGGGGGGGGGGGG | CA2618860722 | ACVRL1 | c.*45_*46insGCGGGGGGGGGGGGGGGGGGG (n.*45_*46insGCGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGGG | CA2618860758 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGCGGGGGGGGGGGGGGGGGGG | CA2618860774 | ACVRL1 | c.*45_*46insGGCGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGCGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGGGG | CA2618860755 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGGGGG | CA2618860754 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGCGGGGGGGGGGGGGGGGGGGGGG | CA2618860721 | ACVRL1 | c.*45_*46insGCGGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGCGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860750 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860685 | ACVRL1 | c.*45_*46insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*45_*46insGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920938dup | CA6573188 | ACVRL1 | c.*45dup (n.*45dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920937_51920938dup | CA2618860734 | ACVRL1 | c.*44_*45dup (n.*44_*45dup) | gnomAD v4 |
| 12 | g.51920936_51920938dup | CA2618860733 | ACVRL1 | c.*43_*45dup (n.*43_*45dup) | gnomAD v4 |
| 12 | g.51920935_51920938dup | CA2618860732 | ACVRL1 | c.*42_*45dup (n.*42_*45dup) | gnomAD v4 |
| 12 | g.51920934_51920938dup | CA947669052 | ACVRL1 | c.*41_*45dup (n.*41_*45dup) | gnomAD v3 gnomAD v4 |
| 12 | g.51920933_51920938dup | CA947669033 | ACVRL1 | c.*40_*45dup (n.*40_*45dup) | gnomAD v3 gnomAD v4 |
| 12 | g.51920932_51920938dup | CA947669031 | ACVRL1 | c.*39_*45dup (n.*39_*45dup) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938del | CA6573187 | ACVRL1 | c.*45del (n.*45del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920937_51920938del | CA2618860697 | ACVRL1 | c.*44_*45del (n.*44_*45del) | gnomAD v4 |
| 12 | g.51920936_51920938del | CA2618860696 | ACVRL1 | c.*43_*45del (n.*43_*45del) | gnomAD v4 |
| 12 | g.51920935_51920938del | CA2618860695 | ACVRL1 | c.*42_*45del (n.*42_*45del) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGTGGGGGG | CA2618860738 | ACVRL1 | c.*52_*53insGGGGGGGGGGGTGGGGGG (n.*52_*53insGGGGGGGGGGGTGGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920945dup | CA2618860741 | ACVRL1 | c.*44_*52dup (n.*44_*52dup) | gnomAD v4 |
| 12 | g.51920936_51920945del | CA2618860694 | ACVRL1 | c.*43_*52del (n.*43_*52del) | gnomAD v4 |
| 12 | g.51920932_51920933insTTT | CA2536794642 | ACVRL1 | c.*39_*40insTTT (n.*39_*40insTTT) | |
| 12 | g.51920933G>A | CA605053148 | ACVRL1 | c.*40G>A (n.*40G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920933G>C | CA2036242116 | ACVRL1 | c.*40G>C (n.*40G>C) | dbSNP gnomAD v4 |
| 12 | g.51920933G= | CA2036242114 | ACVRL1 | c.*40G= (n.*40G=) | |
| 12 | g.51920933G>T | CA6573191 | ACVRL1 | c.*40G>T (n.*40G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920937_51920938insTGGGGG | CA2618860812 | ACVRL1 | c.*44_*45insTGGGGG (n.*44_*45insTGGGGG) | gnomAD v4 |
| 12 | g.51920937_51920938insTTGGGGG | CA2618860816 | ACVRL1 | c.*44_*45insTTGGGGG (n.*44_*45insTTGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insAGGGGGG | CA2618860820 | ACVRL1 | c.*45_*46insAGGGGGG (n.*45_*46insAGGGGGG) | gnomAD v4 |
| 12 | g.51920938_51920939insGGAGGGGGG | CA2618860818 | ACVRL1 | c.*45_*46insGGAGGGGGG (n.*45_*46insGGAGGGGGG) | gnomAD v4 |
| 12 | g.51920939_51920945del | CA2618860814 | ACVRL1 | c.*46_*52del (n.*46_*52del) | gnomAD v4 |
| 12 | g.51920934G>A | CA2618860824 | ACVRL1 | c.*41G>A (n.*41G>A) | gnomAD v4 |
| 12 | g.51920934G>C | CA236367839 | ACVRL1 | c.*41G>C (n.*41G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920934G= | CA2036242118 | ACVRL1 | c.*41G= (n.*41G=) | |
| 12 | g.51920934G>T | CA6573192 | ACVRL1 | c.*41G>T (n.*41G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920936_51920951del | CA2618860822 | ACVRL1 | c.*43_*58del (n.*43_*58del) | gnomAD v4 |
| 12 | g.51920938_51921000del | CA2618860823 | ACVRL1 | c.*45_*107del (n.*45_*107del) | gnomAD v4 |
| 12 | g.51920935G>A | CA2618860826 | ACVRL1 | c.*42G>A (n.*42G>A) | gnomAD v4 |
| 12 | g.51920935G>C | CA2036242124 | ACVRL1 | c.*42G>C (n.*42G>C) | dbSNP |
| 12 | g.51920935G= | CA2036242122 | ACVRL1 | c.*42G= (n.*42G=) | |
| 12 | g.51920935G>T | CA236367846 | ACVRL1 | c.*42G>T (n.*42G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920939_51920943del | CA2618860828 | ACVRL1 | c.*46_*50del (n.*46_*50del) | gnomAD v4 |
| 12 | g.51920936_51920957del | CA2618860827 | ACVRL1 | c.*43_*64del (n.*43_*64del) | gnomAD v4 |
| 12 | g.51920936G>A | CA6573193 | ACVRL1 | c.*43G>A (n.*43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920936G>C | CA2618860837 | ACVRL1 | c.*43G>C (n.*43G>C) | gnomAD v4 |
| 12 | g.51920936G= | CA2036242126 | ACVRL1 | c.*43G= (n.*43G=) | |
| 12 | g.51920936G>T | CA2575161690 | ACVRL1 | c.*43G>T (n.*43G>T) | gnomAD v4 |
| 12 | g.51920939_51920942del | CA2618860831 | ACVRL1 | c.*46_*49del (n.*46_*49del) | gnomAD v4 |
| 12 | g.51920940_51920969del | CA2618860832 | ACVRL1 | c.*47_*76del (n.*47_*76del) | gnomAD v4 |
| 12 | g.51920937G>A | CA6573194 | ACVRL1 | c.*44G>A (n.*44G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920937G>C | CA2618860847 | ACVRL1 | c.*44G>C (n.*44G>C) | gnomAD v4 |
| 12 | g.51920937G= | CA2036242130 | ACVRL1 | c.*44G= (n.*44G=) | |
| 12 | g.51920937G>T | CA2549030419 | ACVRL1 | c.*44G>T (n.*44G>T) | gnomAD v4 |
| 12 | g.51920938G>A | CA2036242134 | ACVRL1 | c.*45G>A (n.*45G>A) | dbSNP gnomAD v4 |
| 12 | g.51920938G>C | CA2036242135 | ACVRL1 | c.*45G>C (n.*45G>C) | dbSNP gnomAD v4 |
| 12 | g.51920938G= | CA2036242133 | ACVRL1 | c.*45G= (n.*45G=) | |
| 12 | g.51920938G>T | CA947669082 | ACVRL1 | c.*45G>T (n.*45G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920938_51920939delinsGT | CA2036242132 | ACVRL1 | c.*45_*46delinsGT (n.*45_*46delinsGT) | |
| 12 | g.51920939_51920940del | CA2618860856 | ACVRL1 | c.*46_*47del (n.*46_*47del) | gnomAD v4 |
| 12 | g.51920942_51920951del | CA2618860852 | ACVRL1 | c.*49_*58del (n.*49_*58del) | gnomAD v4 |
| 12 | g.51920938_51920939insGGGGGGT | CA2795983909 | ACVRL1 | c.*45_*46insGGGGGGT (n.*45_*46insGGGGGGT) | |
| 12 | g.51920939del | CA605053168 | ACVRL1 | c.*46del (n.*46del) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920939T>A | CA2618860864 | ACVRL1 | c.*46T>A (n.*46T>A) | gnomAD v4 |
| 12 | g.51920939T>C | CA2618860865 | ACVRL1 | c.*46T>C (n.*46T>C) | gnomAD v4 |
| 12 | g.51920939T>G | CA6573195 | ACVRL1 | c.*46T>G (n.*46T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920939T= | CA1630855665 | ACVRL1 | c.*46T= (n.*46T=) | |
| 12 | g.51920939_51920940delinsTG | CA2036242137 | ACVRL1 | c.*46_*47delinsTG (n.*46_*47delinsTG) | |
| 12 | g.51920939_51920946del | CA2618860862 | ACVRL1 | c.*46_*53del (n.*46_*53del) | gnomAD v4 |
| 12 | g.51920939_51920940insTGGGGGGGG | CA2618860992 | ACVRL1 | c.*46_*47insTGGGGGGGG (n.*46_*47insTGGGGGGGG) | gnomAD v4 |
| 12 | g.51920939_51920940insTGGGGGGGGG | CA2618860991 | ACVRL1 | c.*46_*47insTGGGGGGGGG (n.*46_*47insTGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920939_51920940insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860989 | ACVRL1 | c.*46_*47insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*46_*47insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940G>A | CA2618860984 | ACVRL1 | c.*47G>A (n.*47G>A) | gnomAD v4 |
| 12 | g.51920940G= | CA2036242158 | ACVRL1 | c.*47G= (n.*47G=) | |
| 12 | g.51920940G>T | CA605053176 | ACVRL1 | c.*47G>T (n.*47G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGG | CA2618860977 | ACVRL1 | c.*47_*48insTGGGGGGGGG (n.*47_*48insTGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGG | CA2618861009 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGG | CA2618861007 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGGGGG | CA2618861005 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860982 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2596578559 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860998 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860995 | ACVRL1 | c.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920940_51920941insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860993 | ACVRL1 | c.*47_*48insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*47_*48insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGG | CA2795983941 | ACVRL1 | c.*48_*49insTGGGGGGG (n.*48_*49insTGGGGGGG) | |
| 12 | g.51920941_51920942insTGGGGGGGGGG | CA2618861020 | ACVRL1 | c.*48_*49insTGGGGGGGGGG (n.*48_*49insTGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGGGGGG | CA2618861019 | ACVRL1 | c.*48_*49insTGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGGGGGGGGGGGG | CA2618861016 | ACVRL1 | c.*48_*49insTGGGGGGGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGGGGGGGGGGGGGG | CA2618861013 | ACVRL1 | c.*48_*49insTGGGGGGGGGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGGGGGGGGGGGGGGG | CA2618861012 | ACVRL1 | c.*48_*49insTGGGGGGGGGGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insTGGGGGGGGGGGGGGGGGGGGGGGG | CA2795983942 | ACVRL1 | c.*48_*49insTGGGGGGGGGGGGGGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGGGGGGGGGGGGGGG) | |
| 12 | g.51920941_51920942insTGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861011 | ACVRL1 | c.*48_*49insTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*48_*49insTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920942_51920943insTGGGGGGGGGGGGGGGGGG | CA2795983940 | ACVRL1 | c.*49_*50insTGGGGGGGGGGGGGGGGGG (n.*49_*50insTGGGGGGGGGGGGGGGGGG) | |
| 12 | g.51920942_51920943insTGGGGGGGGGGGGGGGGGGGGG | CA2618861001 | ACVRL1 | c.*49_*50insTGGGGGGGGGGGGGGGGGGGGG (n.*49_*50insTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920942_51920943insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861026 | ACVRL1 | c.*49_*50insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*49_*50insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920942_51920943insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861025 | ACVRL1 | c.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*49_*50insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920942_51920943insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861024 | ACVRL1 | c.*49_*50insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*49_*50insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTGGGGGGGGGGGG | CA2618860959 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTGGGGGGGGGGGGGGG | CA2618860961 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTGGGGGGGGGGGGGGGG | CA2618860962 | ACVRL1 | c.*50_*51insTGGGGGGGGGGGGGGGG (n.*50_*51insTGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insCGGGGGGGGGGGGGGGGGGGGG | CA2618861068 | ACVRL1 | c.*50_*51insCGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insCGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGG | CA2618860963 | ACVRL1 | c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860964 | ACVRL1 | c.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920943_51920944insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2795983938 | ACVRL1 | c.*50_*51insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*50_*51insTGGTGGTGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
| 12 | g.51920944_51920945insTGTGGGGGGGGGGGGG | CA2618860951 | ACVRL1 | c.*51_*52insTGTGGGGGGGGGGGGG (n.*51_*52insTGTGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGG | CA2618860953 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCGGGGGGGGGGGGGGGGGGGGG | CA2618861061 | ACVRL1 | c.*51_*52insCGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860955 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCGGCGGGGGGGGGGGGGGGGGGGG | CA2618861063 | ACVRL1 | c.*51_*52insCGGCGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGCGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTTGGGGGGGGGGGGGGGGGGGGGGG | CA2618860957 | ACVRL1 | c.*51_*52insTTGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTTGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCCGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861064 | ACVRL1 | c.*51_*52insCCGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCCGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861059 | ACVRL1 | c.*51_*52insCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insCGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860958 | ACVRL1 | c.*51_*52insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860954 | ACVRL1 | c.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920944_51920945insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860952 | ACVRL1 | c.*51_*52insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*51_*52insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGG | CA947669128 | ACVRL1 | c.*52_*53insGGGGGGG (n.*52_*53insGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGAGGGGGG | CA2795983949 | ACVRL1 | c.*52_*53insGAGGGGGG (n.*52_*53insGAGGGGGG) | |
| 12 | g.51920945_51920946insGGGGGGGG | CA605053173 | ACVRL1 | c.*52_*53insGGGGGGGG (n.*52_*53insGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGG | CA2618860981 | ACVRL1 | c.*52_*53insTGGGGGGG (n.*52_*53insTGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGG | CA6573196 | ACVRL1 | c.*52_*53insGGGGGGGGG (n.*52_*53insGGGGGGGGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGTGGGGGGG | CA2618861056 | ACVRL1 | c.*52_*53insGTGGGGGGG (n.*52_*53insGTGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGG | CA605053178 | ACVRL1 | c.*52_*53insGGGGGGGGGG (n.*52_*53insGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGG | CA947669132 | ACVRL1 | c.*52_*53insGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGG | CA947669133 | ACVRL1 | c.*52_*53insGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGG | CA2618861132 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGG | CA2618861129 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGG | CA947669123 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGG | CA2618860980 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGG | CA947669124 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGG | CA2596578560 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTTGGGGGGGGGGGGGG | CA2618860967 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGG (n.*52_*53insTTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGG | CA947669122 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGTGGGGGGGGGGGGGG | CA2618861093 | ACVRL1 | c.*52_*53insGGTGGGGGGGGGGGGGG (n.*52_*53insGGTGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGG | CA605053183 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGTGGGGGGGGGGGGGGG | CA2618861091 | ACVRL1 | c.*52_*53insGGTGGGGGGGGGGGGGGG (n.*52_*53insGGTGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGG | CA913722286 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGG | CA947669120 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGG | CA2596578562 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGCGGGGGGGGGGGGGGGGGGG | CA2618861040 | ACVRL1 | c.*52_*53insGGCGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGCGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGG | CA947669117 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGG | CA2618860979 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGG | CA2618860956 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGG | CA2596578561 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGG | CA947669115 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860976 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669110 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669109 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGG) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860975 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGCGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861048 | ACVRL1 | c.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA947669106 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860973 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861120 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGCGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861044 | ACVRL1 | c.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGCGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTTGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860966 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861114 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861109 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861085 | ACVRL1 | c.*52_*53insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGTTGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860971 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861107 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861105 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860968 | ACVRL1 | c.*52_*53insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860970 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618860969 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2618861099 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2795983937 | ACVRL1 | c.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (n.*52_*53insTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG) | |
| 12 | g.51920945dup | CA947669126 | ACVRL1 | c.*52dup (n.*52dup) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.51920944_51920945dup | CA2618861079 | ACVRL1 | c.*51_*52dup (n.*51_*52dup) | gnomAD v4 |
| 12 | g.51920943_51920945dup | CA2618861072 | ACVRL1 | c.*50_*52dup (n.*50_*52dup) | gnomAD v4 |
| 12 | g.51920942_51920945dup | CA2618861070 | ACVRL1 | c.*49_*52dup (n.*49_*52dup) | gnomAD v4 |
| 12 | g.51920941_51920945dup | CA2618861067 | ACVRL1 | c.*48_*52dup (n.*48_*52dup) | gnomAD v4 |
| 12 | g.51920940_51920945dup | CA2596578563 | ACVRL1 | c.*47_*52dup (n.*47_*52dup) | gnomAD v3 gnomAD v4 |
| 12 | g.51920945del | CA2036242149 | ACVRL1 | c.*52del (n.*52del) | dbSNP gnomAD v4 |
| 12 | g.51920944_51920945del | CA2529302392 | ACVRL1 | c.*51_*52del (n.*51_*52del) | |
| 12 | g.51920943_51920945del | CA2618860986 | ACVRL1 | c.*50_*52del (n.*50_*52del) | gnomAD v4 |
| 12 | g.51920940_51920946del | CA2618860985 | ACVRL1 | c.*47_*53del (n.*47_*53del) | gnomAD v4 |
| 12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGC | CA2618861052 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insGCGGGGGGGGGGGGGGGGGGGGGGC | CA2618861054 | ACVRL1 | c.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGCGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861051 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861050 | ACVRL1 | c.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618861053 | ACVRL1 | c.*53_*54insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*53_*54insGGGGCGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920948_51920949insGGGGGGGGGGGGGCAG | CA2618861029 | ACVRL1 | c.*55_*56insGGGGGGGGGGGGGCAG (n.*55_*56insGGGGGGGGGGGGGCAG) | gnomAD v4 |
| 12 | g.51920962_51920963insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA | CA2618861055 | ACVRL1 | c.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA (n.*69_*70insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCAGTGGATGGTGCCCTA) | gnomAD v4 |
| 12 | g.51920940_51920941insT | CA2618861160 | ACVRL1 | c.*47_*48insT (n.*47_*48insT) | gnomAD v4 |
| 12 | g.51920941G>A | CA2575161691 | ACVRL1 | c.*48G>A (n.*48G>A) | gnomAD v4 |
| 12 | g.51920941G>C | CA2618861157 | ACVRL1 | c.*48G>C (n.*48G>C) | gnomAD v4 |
| 12 | g.51920941G= | CA2036242163 | ACVRL1 | c.*48G= (n.*48G=) | |
| 12 | g.51920941G>T | CA605053185 | ACVRL1 | c.*48G>T (n.*48G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGGG | CA2618861161 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGGG) | gnomAD v4 |
| 12 | g.51920941_51920942insC | CA2618861191 | ACVRL1 | c.*48_*49insC (n.*48_*49insC) | gnomAD v4 |
| 12 | g.51920941_51920942insCT | CA2566234199 | ACVRL1 | c.*48_*49insCT (n.*48_*49insCT) | |
| 12 | g.51920942G>A | CA236367877 | ACVRL1 | c.*49G>A (n.*49G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920942G>C | CA2575161693 | ACVRL1 | c.*49G>C (n.*49G>C) | gnomAD v4 |
| 12 | g.51920942G= | CA2036242165 | ACVRL1 | c.*49G= (n.*49G=) | |
| 12 | g.51920942G>T | CA2618861188 | ACVRL1 | c.*49G>T (n.*49G>T) | gnomAD v4 |
| 12 | g.51920942_51920943insCG | CA2575161692 | ACVRL1 | c.*49_*50insCG (n.*49_*50insCG) | |
| 12 | g.51920945_51920946insGGGGGGGCGGGG | CA2618861193 | ACVRL1 | c.*52_*53insGGGGGGGCGGGG (n.*52_*53insGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGGGG | CA2618861194 | ACVRL1 | c.*52_*53insGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCGGGG | CA2618861195 | ACVRL1 | c.*52_*53insGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGGGG | CA2618861196 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCGGGG | CA2618861204 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGCCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCGGGG | CA2618861197 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCGGGG | CA2618861199 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCGGGG | CA2618861200 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGGGG | CA2618861201 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGGG | CA2618861202 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGGGG | CA2618861203 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGGG | CA2618861189 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGGGG | CA2618861176 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGGGG | CA2618861190 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGGG | CA2618861179 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGGGG | CA2618861178 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861184 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGG | CA2618861180 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGGG | CA2618861181 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861185 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGGGG | CA2618861182 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861186 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGGG | CA2618861187 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCGGGG | CA2618861183 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCGGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG | CA2795983959 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGGG) | |
| 12 | g.51920942_51920946dup | CA2618861192 | ACVRL1 | c.*49_*53dup (n.*49_*53dup) | gnomAD v4 |
| 12 | g.51920942_51920943insC | CA2575161699 | ACVRL1 | c.*49_*50insC (n.*49_*50insC) | gnomAD v4 |
| 12 | g.51920942_51920943insCC | CA2618861535 | ACVRL1 | c.*49_*50insCC (n.*49_*50insCC) | gnomAD v4 |
| 12 | g.51920942_51920943insCCC | CA2575161697 | ACVRL1 | c.*49_*50insCCC (n.*49_*50insCCC) | |
| 12 | g.51920943G>A | CA6573197 | ACVRL1 | c.*50G>A (n.*50G>A) | dbSNP ExAC gnomAD v4 |
| 12 | g.51920943G>C | CA2575161694 | ACVRL1 | c.*50G>C (n.*50G>C) | gnomAD v4 |
| 12 | g.51920943G= | CA2036242167 | ACVRL1 | c.*50G= (n.*50G=) | |
| 12 | g.51920943G>T | CA605053188 | ACVRL1 | c.*50G>T (n.*50G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.51920943_51920944insCG | CA2575161698 | ACVRL1 | c.*50_*51insCG (n.*50_*51insCG) | |
| 12 | g.51920944_51920945insCGG | CA2575161696 | ACVRL1 | c.*51_*52insCGG (n.*51_*52insCGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCCGG | CA2575161695 | ACVRL1 | c.*51_*52insCCGG (n.*51_*52insCCGG) | gnomAD v4 |
| 12 | g.51920944_51920945insCGCCGCCCGG | CA2618861532 | ACVRL1 | c.*51_*52insCGCCGCCCGG (n.*51_*52insCGCCGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGCGGG | CA2618861522 | ACVRL1 | c.*52_*53insGGCGGG (n.*52_*53insGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGCCGGG | CA2618861521 | ACVRL1 | c.*52_*53insGGGCCGGG (n.*52_*53insGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGCGGG | CA2618861519 | ACVRL1 | c.*52_*53insGGGGCGGG (n.*52_*53insGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGCCGGG | CA2618861518 | ACVRL1 | c.*52_*53insGGGGCCGGG (n.*52_*53insGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGCGGG | CA2618861481 | ACVRL1 | c.*52_*53insGGGGGCGGG (n.*52_*53insGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGTGGG | CA2618861403 | ACVRL1 | c.*52_*53insGGGGGTGGG (n.*52_*53insGGGGGTGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGCCCGGG | CA2618861516 | ACVRL1 | c.*52_*53insGGGGCCCGGG (n.*52_*53insGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGCCGGG | CA2618861513 | ACVRL1 | c.*52_*53insGGGGGCCGGG (n.*52_*53insGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCGGG | CA2618861511 | ACVRL1 | c.*52_*53insGGGGGGCGGG (n.*52_*53insGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCCGGG | CA2618861508 | ACVRL1 | c.*52_*53insGGGGGGCCGGG (n.*52_*53insGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGGG | CA2618861506 | ACVRL1 | c.*52_*53insGGGGGGGCGGG (n.*52_*53insGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGCGCCCGGG | CA2618861515 | ACVRL1 | c.*52_*53insGGGGCGCCCGGG (n.*52_*53insGGGGCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCGGG | CA2618861504 | ACVRL1 | c.*52_*53insGGGGGGGCCGGG (n.*52_*53insGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGGG | CA2618861495 | ACVRL1 | c.*52_*53insGGGGGGGGCGGG (n.*52_*53insGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCGGG | CA2618861503 | ACVRL1 | c.*52_*53insGGGGGGGCCCGGG (n.*52_*53insGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCGGG | CA2618861492 | ACVRL1 | c.*52_*53insGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCGGG | CA2618861483 | ACVRL1 | c.*52_*53insGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCGGG | CA2618861501 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGCCGGG | CA2795983973 | ACVRL1 | c.*52_*53insGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGCGCCGGG) | |
| 12 | g.51920945_51920946insGGGGGGGGCCCGGG | CA2618861490 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCGGG | CA2618861559 | ACVRL1 | c.*52_*53insGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGGG | CA2618861581 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCGGG | CA2618861499 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCGGG | CA2618861489 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCGGG | CA2618861539 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCGGG | CA2618861593 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCGGG | CA2618861589 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGGG | CA2618861486 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCGGG | CA2618861568 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCGCCGGG | CA2618861578 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGCGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCGGG | CA2618861583 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCGGG | CA2618861591 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCGGG | CA2618861567 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCGGG | CA2618861484 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGCCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCGGG | CA2618861570 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCGGG | CA2618861584 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCGGG | CA2618861566 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCGGG | CA2618861561 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCGGG | CA2618861573 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGCCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCGGG | CA2618861564 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCGGG | CA2618861557 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCGGG | CA2618861555 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGGG | CA2618861586 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGGCCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGGG | CA2618861553 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGG | CA2618861551 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCGGGCCGGG | CA2618861574 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGGCCGGG (n.*52_*53insGGGGGGGGGCCCGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGGG | CA2618861550 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGG | CA2618861396 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGGG | CA2618861380 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGGG | CA2618861549 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGGG | CA2618861394 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCGGG | CA2618861552 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCGGG | CA2618861368 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGGG | CA2618861548 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGG | CA2618861401 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGGG | CA2618861390 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGGG | CA2618861379 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCGGG | CA2618861387 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGGG | CA2618861546 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGG | CA2618861351 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGCGGG | CA2618861541 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGG | CA2618861374 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861373 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861353 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGCCCGGG | CA2618861543 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861361 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGGG | CA2618861345 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861384 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861378 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861381 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861431 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861376 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861362 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861355 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCGGG | CA2618861545 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861375 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861372 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCGGG | CA2618861347 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGCCCGGG | CA2618861514 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861349 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861357 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861465 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861370 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861479 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861364 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861474 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861459 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861451 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861358 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861366 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861449 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861454 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCGGG | CA2618861369 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861439 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861469 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGCCGGG | CA2618861468 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGGG | CA2618861360 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861397 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861436 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861447 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861427 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861421 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG | CA2618861408 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861425 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861418 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG | CA2618861442 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861433 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG | CA2618861406 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG | CA2618861413 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861422 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG | CA2618861411 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGG) | gnomAD v4 |
| 12 | g.51920946_51920947insCGGGC | CA2618861527 | ACVRL1 | c.*53_*54insCGGGC (n.*53_*54insCGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCGGGC | CA2618861525 | ACVRL1 | c.*53_*54insCCGGGC (n.*53_*54insCCGGGC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCGGGC | CA2618861524 | ACVRL1 | c.*53_*54insCCCGGGC (n.*53_*54insCCCGGGC) | gnomAD v4 |
| 12 | g.51920943_51920946dup | CA2618861529 | ACVRL1 | c.*50_*53dup (n.*50_*53dup) | gnomAD v4 |
| 12 | g.51920943_51920944insAA | CA2575161700 | ACVRL1 | c.*50_*51insAA (n.*50_*51insAA) | |
| 12 | g.51920943_51920944insCCC | CA2575161704 | ACVRL1 | c.*50_*51insCCC (n.*50_*51insCCC) | |
| 12 | g.51920944G>A | CA2618861667 | ACVRL1 | c.*51G>A (n.*51G>A) | gnomAD v4 |
| 12 | g.51920944G>C | CA2618861666 | ACVRL1 | c.*51G>C (n.*51G>C) | gnomAD v4 |
| 12 | g.51920944G= | CA2036242172 | ACVRL1 | c.*51G= (n.*51G=) | |
| 12 | g.51920944G>T | CA2618861665 | ACVRL1 | c.*51G>T (n.*51G>T) | gnomAD v4 |
| 12 | g.51920944_51920945insAG | CA2575161703 | ACVRL1 | c.*51_*52insAG (n.*51_*52insAG) | |
| 12 | g.51920945_51920946insGCCGG | CA2575161701 | ACVRL1 | c.*52_*53insGCCGG (n.*52_*53insGCCGG) | |
| 12 | g.51920945_51920946insGGCCCGG | CA2618861761 | ACVRL1 | c.*52_*53insGGCCCGG (n.*52_*53insGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGCCGG | CA2618861759 | ACVRL1 | c.*52_*53insGGGCCGG (n.*52_*53insGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGCCGG | CA2618861755 | ACVRL1 | c.*52_*53insGGGGGCCGG (n.*52_*53insGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGG | CA2618861749 | ACVRL1 | c.*52_*53insGGGGGGGCGG (n.*52_*53insGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCCCGG | CA2618861752 | ACVRL1 | c.*52_*53insGGGGGGCCCGG (n.*52_*53insGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCGG | CA2618861747 | ACVRL1 | c.*52_*53insGGGGGGGCCGG (n.*52_*53insGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGG | CA2618861706 | ACVRL1 | c.*52_*53insGGGGGGGGCGG (n.*52_*53insGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCGG | CA2618861743 | ACVRL1 | c.*52_*53insGGGGGGGCCCGG (n.*52_*53insGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGCGG | CA2618861739 | ACVRL1 | c.*52_*53insGGGGGGGCGCGG (n.*52_*53insGGGGGGGCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCGG | CA2618861734 | ACVRL1 | c.*52_*53insGGGGGGGGCCGG (n.*52_*53insGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCGG | CA2618861741 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGG (n.*52_*53insGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCGG | CA2618861730 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCGG | CA2618861716 | ACVRL1 | c.*52_*53insGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGG | CA2618861838 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCGG | CA2618861740 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCGG | CA2618861729 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCGG | CA2618861714 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCGG (n.*52_*53insGGGGGGGGCGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCGG | CA2618861711 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCGG | CA2618861835 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCGG | CA2618861826 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGG | CA2618861727 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCGG | CA2618861708 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCGG | CA2618861833 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCGG | CA2618861822 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCGG | CA2618861724 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCGG | CA2618861707 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCGG | CA2618861821 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCGCGG | CA2618861816 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCGG | CA2618861813 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCGG | CA2618861721 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCGG | CA2618861830 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCGG | CA2618861810 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCGG | CA2795983984 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGCGG) | |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGG | CA2795983982 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGCCCCCCGG) | |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCGG | CA2618861802 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGG | CA2618861793 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCGCGCCCCGG | CA2618861842 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCGCCCCGG (n.*52_*53insGGGGGGGGGCGCGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCGG | CA2618861770 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCGG | CA2618861718 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCGG (n.*52_*53insGGGGGGGGCCCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGG | CA2618861785 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGG | CA2618861804 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGG | CA2618861779 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCGG | CA2618861774 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCGCGG | CA2618861787 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCGCGG (n.*52_*53insGGGGGGGGGGGGGGCCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGG | CA2618861777 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCGG | CA2618861789 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGG | CA2618861654 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCGG | CA2618861660 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGG | CA2618861658 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCGG | CA2618861657 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCCGG | CA2618861736 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGG | CA2618861775 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCCGG | CA2618861799 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCGG | CA2618861656 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGG | CA2618861653 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGG | CA2618861652 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGG | CA2618861644 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGG | CA2618861704 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGG | CA2618861641 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCGG | CA2618861772 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861655 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861645 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861651 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861646 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861650 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861703 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861661 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGCGG | CA2618861638 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861695 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861690 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCGG | CA2618861642 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGG | CA2618861664 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861647 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861699 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861649 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861637 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861689 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCCGG | CA2618861643 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGCCCGG | CA2618861639 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861693 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861648 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861692 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861696 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCGG | CA2618861682 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG | CA2618861640 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2795983985 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGG) | |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861679 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861688 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861677 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG | CA2618861663 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG | CA2618861681 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861673 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG | CA2618861680 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG | CA2618861670 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG | CA2618861671 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG | CA2618861669 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG | CA2618861684 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCGGGGGGGGGGGGGGGGGGGGCCGG) | gnomAD v4 |
| 12 | g.51920944_51920946delinsGGC | CA2036242170 | ACVRL1 | c.*51_*53delinsGGC (n.*51_*53delinsGGC) | |
| 12 | g.51920946_51920947insCGGC | CA2575161702 | ACVRL1 | c.*53_*54insCGGC (n.*53_*54insCGGC) | |
| 12 | g.51920946_51920947insCCCCCGGC | CA2618861765 | ACVRL1 | c.*53_*54insCCCCCGGC (n.*53_*54insCCCCCGGC) | gnomAD v4 |
| 12 | g.51920944_51920946dup | CA2618861768 | ACVRL1 | c.*51_*53dup (n.*51_*53dup) | gnomAD v4 |
| 12 | g.51920945G>A | CA605053191 | ACVRL1 | c.*52G>A (n.*52G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920945G>C | CA2522075531 | ACVRL1 | c.*52G>C (n.*52G>C) | gnomAD v4 |
| 12 | g.51920945G= | CA2036242173 | ACVRL1 | c.*52G= (n.*52G=) | |
| 12 | g.51920945G>T | CA2618861872 | ACVRL1 | c.*52G>T (n.*52G>T) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGAG | CA605053190 | ACVRL1 | c.*52_*53insGGGGGGGAG (n.*52_*53insGGGGGGGAG) | dbSNP gnomAD v2 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCG | CA2618861877 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCG (n.*52_*53insGGGGGGGGGGCCCCCCCCG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCAG | CA2618861868 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCAG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCAG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCG | CA2618861875 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCG (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCG) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG | CA2618861876 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCGCG) | gnomAD v4 |
| 12 | g.51920945_51920946del | CA6573198 | ACVRL1 | c.*52_*53del (n.*52_*53del) | dbSNP ExAC |
| 12 | g.51920945_51920946insGGGGC | CA2618863330 | ACVRL1 | c.*52_*53insGGGGC (n.*52_*53insGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGC | CA2618863502 | ACVRL1 | c.*52_*53insGGGGGGGC (n.*52_*53insGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGCCGCCCGC | CA2618863348 | ACVRL1 | c.*52_*53insGCCGCCCGC (n.*52_*53insGCCGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGCCCCCGC | CA2618863338 | ACVRL1 | c.*52_*53insGGCCCCCGC (n.*52_*53insGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGC | CA2618863438 | ACVRL1 | c.*52_*53insGGGGGGGGC (n.*52_*53insGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGC | CA2618863259 | ACVRL1 | c.*52_*53insGGGGGGGGGC (n.*52_*53insGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGC | CA2618863668 | ACVRL1 | c.*52_*53insGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGCCCCCCCCGC | CA2618863344 | ACVRL1 | c.*52_*53insGGCCCCCCCCGC (n.*52_*53insGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGCGCCCCCGC | CA2618863333 | ACVRL1 | c.*52_*53insGGGCGCCCCCGC (n.*52_*53insGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGCCCCCCC | CA2618863318 | ACVRL1 | c.*52_*53insGGGGGCCCCCCC (n.*52_*53insGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCCCCGC | CA2618863352 | ACVRL1 | c.*52_*53insGGGGGGCCCCGC (n.*52_*53insGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCC | CA2618863495 | ACVRL1 | c.*52_*53insGGGGGGGCCCCC (n.*52_*53insGGGGGGGCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGGC | CA2618863265 | ACVRL1 | c.*52_*53insGGGGGGGGCGGC (n.*52_*53insGGGGGGGGCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGC | CA2618863716 | ACVRL1 | c.*52_*53insGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCCCCCGC | CA2618863311 | ACVRL1 | c.*52_*53insGGGGGGCCCCCGC (n.*52_*53insGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCGGC | CA2618863456 | ACVRL1 | c.*52_*53insGGGGGGGCCCGGC (n.*52_*53insGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCGGGC | CA2618863452 | ACVRL1 | c.*52_*53insGGGGGGGCCGGGC (n.*52_*53insGGGGGGGCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCGC | CA2618863131 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGC | CA2618863907 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCGC | CA2618863463 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCGGC | CA2618863459 | ACVRL1 | c.*52_*53insGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGCCCGC | CA2618863446 | ACVRL1 | c.*52_*53insGGGGGGGCGCCCGC (n.*52_*53insGGGGGGGCGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCC | CA2618863429 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCGC | CA2618863137 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCGGC | CA2618863120 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCGGGC | CA2618863110 | ACVRL1 | c.*52_*53insGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGCCCCCCCCCCC | CA2618863320 | ACVRL1 | c.*52_*53insGGGGCCCCCCCCCCC (n.*52_*53insGGGGCCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCCCCCCCCC | CA2618863315 | ACVRL1 | c.*52_*53insGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGCGCCCCCGC | CA2618863508 | ACVRL1 | c.*52_*53insGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCCCC | CA2618863489 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCCGC | CA2618863467 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCGGC | CA2618863419 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCC | CA2618863421 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGC | CA2618863152 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCGGC | CA2618863134 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCGCGC | CA2618862915 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGCGC (n.*52_*53insGGGGGGGGCCCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCGGC | CA2618863278 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCGGC | CA2618863234 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCGCGGC | CA2618863231 | ACVRL1 | c.*52_*53insGGGGGGGGGCGCGGC (n.*52_*53insGGGGGGGGGCGCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGC | CA2618863604 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCCCCC | CA2618863483 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCC | CA2618863250 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCGC | CA2618863189 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGCC | CA2618863106 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGCCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGGC | CA2618863145 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCGCCCC | CA2618863127 | ACVRL1 | c.*52_*53insGGGGGGGGCCCGCCCC (n.*52_*53insGGGGGGGGCCCGCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCCGGC | CA2618863286 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCGGC (n.*52_*53insGGGGGGGGCGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCC | CA2618863253 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCGC | CA2618863241 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCGGC | CA2618863236 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCC | CA2618863852 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCGGC | CA2618863742 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGC | CA2618863575 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCGGC | CA2618863461 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCGC | CA2618863194 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCCC | CA2618863226 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCGC | CA2618863974 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCGGC | CA2618863239 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCGCCCCCCGC | CA2618863448 | ACVRL1 | c.*52_*53insGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGCGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCGGGC | CA2618863733 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGCCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCCC | CA2618863219 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCGCC | CA2618863186 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCGCC (n.*52_*53insGGGGGGGGCCCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCGGGC | CA2618863141 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCGGGC (n.*52_*53insGGGGGGGGCCCCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCCCCGC | CA2618863301 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCCCGGC | CA2618863295 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCGGC (n.*52_*53insGGGGGGGGCGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCC | CA2618863847 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCGGC | CA2618863789 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCGC | CA2618863808 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGC | CA2618863646 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCGC | CA2618863943 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCGGC | CA2618863957 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCGCCCCGC | CA2618863272 | ACVRL1 | c.*52_*53insGGGGGGGGCGCGCCCCGC (n.*52_*53insGGGGGGGGCGCGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGCCCCCCCCCGC | CA2618863475 | ACVRL1 | c.*52_*53insGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGCCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCC | CA2618863211 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCCCC | CA2618863248 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGCCGCCC | CA2618863720 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCGCCC (n.*52_*53insGGGGGGGGGGCGCCGCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCGGC | CA2618863707 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCGC | CA2618863816 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCGCCCCCCGC | CA2618863147 | ACVRL1 | c.*52_*53insGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGCGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCGGC | CA2618863872 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCCGC | CA2618863879 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCC | CA2618863841 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCCGC | CA2618863199 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCCGC | CA2618863245 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCGC | CA2618863936 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGC | CA2618863663 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGC (n.*52_*53insGGGGGGGGGGGGGGGCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCC | CA2618863834 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCGC | CA2618863820 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGCCCCCCCGGC | CA2618863243 | ACVRL1 | c.*52_*53insGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGCCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCC | CA2618863713 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCGC | CA2618863619 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGC | CA2618863894 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCGCCGGC | CA2618863921 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGCCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGC | CA2618862791 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCGCCCCCGCC | CA2618863114 | ACVRL1 | c.*52_*53insGGGGGGGGCCGCCCCCGCC (n.*52_*53insGGGGGGGGCCGCCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGCCCCCGC | CA2618863725 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGCCCCCCCCCGC | CA2618863204 | ACVRL1 | c.*52_*53insGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGCCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCGCCCCCCGC | CA2618863730 | ACVRL1 | c.*52_*53insGGGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGCGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCGGC | CA2618863887 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCCCCCCGC | CA2618863901 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCGCCGGC | CA2618863614 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGGGGGGCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCGC | CA2618863856 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCGGCCCGC | CA2618863862 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGCCCGC (n.*52_*53insGGGGGGGGGGGGCGGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCGC | CA2618863624 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGC | CA2618862785 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGC | CA2618863681 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCC | CA2618863628 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCCC | CA2618863599 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGC | CA2618863000 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGCCCCCCCCCCC | CA2618863827 | ACVRL1 | c.*52_*53insGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGCCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCGGC | CA2618863513 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCCGC | CA2618863915 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCGGC | CA2618863926 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGCCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCGGC | CA2618863677 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGC | CA2618863691 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGCGC | CA2618862811 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCC | CA2618863564 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGC | CA2618862973 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGGC | CA2618863683 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCCCCCCCCC | CA2618863711 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGCCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGC | CA2618863702 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCGCCCCCCCGC | CA2618863911 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGCGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCC | CA2618863554 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCGCC | CA2618863686 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGCCCGC | CA2618863672 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCC | CA2618863642 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCGGC | CA2618863587 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCC | CA2618862809 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGGC | CA2618862812 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGCCCGGCCCCCGC | CA2618863966 | ACVRL1 | c.*52_*53insGGGGGGGGGGGCCCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGCCCGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGC | CA2618862721 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCGC | CA2618863586 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGGC | CA2618863695 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGC | CA2618862799 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGGC | CA2618862771 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCC | CA2618863548 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCCCCCGC | CA2618863593 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGCGGCCCCCCGC | CA2618863800 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGCGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGCGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGC | CA2618863025 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCGCCGGC | CA2618863632 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGCCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCGCGGC | CA2618862794 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGCGCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCGGC | CA2618862814 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCC | CA2618862855 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCC | CA2618863640 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGC | CA2618862835 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGC | CA2618862742 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGCCCGCCCGC | CA2618863581 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGCCCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGCCCGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGGGC | CA2618862740 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGCC | CA2618862797 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862788 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGC | CA2618863067 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCGCGC | CA2618863698 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGCCCCCCCCCCC | CA2795984005 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGCCCCCCCCCCC) | |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862795 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862750 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862820 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCC | CA2618863634 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCGC | CA2618863520 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCC | CA2618863539 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCC | CA2618862853 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862815 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862816 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCGCCCGC | CA2618862813 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCGC | CA2618862719 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862850 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGGC | CA2618863020 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGCCCCCGC | CA2618863659 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGCGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862819 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862827 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862906 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862817 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862808 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862762 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862754 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCGGGC | CA2618862748 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862802 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGGC | CA2618863073 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCGGC | CA2618862729 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618863530 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862878 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCGGC | CA2618862743 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862759 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862766 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGC | CA2618862731 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCGC | CA2618862732 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862783 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862831 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862822 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCGCGC | CA2618862758 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618863415 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862804 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862980 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCGCC | CA2618862824 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862847 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCGGGC | CA2618862730 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862818 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862829 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618863087 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCGCCCCC | CA2618862976 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCGCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862781 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCGGGCCCCCCCC | CA2618863650 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCC | CA2618862969 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862764 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862769 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGCGGGCCCCCGC | CA2618862810 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGCGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGCGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862845 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCCGGC | CA2618862723 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGC | CA2618863044 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGC | CA2618862949 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862986 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGCCCCCCCCCCCC | CA2618863525 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGCCCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862983 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCCC | CA2618862737 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863100 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618863086 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCGCCCCGGC | CA2618862746 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCGGC | CA2618863007 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862843 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862779 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862992 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCGGC | CA2618862734 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCCCCCCGC | CA2618862735 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862998 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCGGGC | CA2618862908 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618863038 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618863048 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862837 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCGGC | CA2618862834 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862772 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862767 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC | CA2618862717 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGGCCGCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC | CA2618863004 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863060 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC | CA2618862839 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC | CA2618862807 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGCCCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC | CA2618863023 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862777 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618863091 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC | CA2618863033 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862966 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC | CA2618862989 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862963 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC | CA2618862752 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862774 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC | CA2618862726 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGCGCGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618863055 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862996 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618863063 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862881 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC | CA2618862858 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618863030 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC | CA2618863078 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC | CA2618862958 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC | CA2618863018 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC | CA2618862775 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618863103 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862888 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862932 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC | CA2618863002 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGCGGGGCCCGGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC | CA2618862960 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862885 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC | CA2618862945 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC | CA2618863083 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGCCGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC | CA2618862866 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862862 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC | CA2618862929 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC | CA2795984010 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCGCGGC) | |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862903 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862891 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862893 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC | CA2618862942 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC | CA2618862911 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC | CA2618862897 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC | CA2618862876 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC | CA2618862869 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862900 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC | CA2618862935 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC | CA2618862874 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC | CA2618862898 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC | CA2618862938 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCGCC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC | CA2618862872 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCCCCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC | CA2618862927 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGGCGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC | CA2618862953 | ACVRL1 | c.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC (n.*52_*53insGGGGGGGGGGGGGGGGGGGGGGGGGCGCGGCCCCCGC) | gnomAD v4 |
| 12 | g.51920945_51920946insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC | CA2618862924 | ACVRL1 | c.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC (n.*52_*53insTTGGGGGGGGGGGGGGGGGGGGGGGGGGCGGCCCCCCGC) | gnomAD v4 |
| 12 | g.51920946C>A | CA2575161708 | ACVRL1 | c.*53C>A (n.*53C>A) | gnomAD v4 |
| 12 | g.51920946C= | CA2036242175 | ACVRL1 | c.*53C= (n.*53C=) | |
| 12 | g.51920946C>G | CA2618862920 | ACVRL1 | c.*53C>G (n.*53C>G) | gnomAD v4 |
| 12 | g.51920946C>T | CA2036242177 | ACVRL1 | c.*53C>T (n.*53C>T) | dbSNP gnomAD v4 |
| 12 | g.51920946_51920947insCCCCC | CA2618863404 | ACVRL1 | c.*53_*54insCCCCC (n.*53_*54insCCCCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCGCC | CA2575161707 | ACVRL1 | c.*53_*54insCCGCC (n.*53_*54insCCGCC) | |
| 12 | g.51920946_51920947insCCCGCC | CA2575161706 | ACVRL1 | c.*53_*54insCCCGCC (n.*53_*54insCCCGCC) | |
| 12 | g.51920946_51920947insCCCCCCC | CA2618863392 | ACVRL1 | c.*53_*54insCCCCCCC (n.*53_*54insCCCCCCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCCGCC | CA2618863363 | ACVRL1 | c.*53_*54insCCCCGCC (n.*53_*54insCCCCGCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCGGCC | CA2618863307 | ACVRL1 | c.*53_*54insCCCGGCC (n.*53_*54insCCCGGCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCCCCCC | CA2618863386 | ACVRL1 | c.*53_*54insCCCCCCCC (n.*53_*54insCCCCCCCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCCCGCC | CA2618863373 | ACVRL1 | c.*53_*54insCCCCCGCC (n.*53_*54insCCCCCGCC) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCCCCGCC | CA2618863380 | ACVRL1 | c.*53_*54insCCCCCCGCC (n.*53_*54insCCCCCCGCC) | gnomAD v4 |
| 12 | g.51920946dup | CA2618863408 | ACVRL1 | c.*53dup (n.*53dup) | gnomAD v4 |
| 12 | g.51920946_51920947del | CA2575161705 | ACVRL1 | c.*53_*54del (n.*53_*54del) | gnomAD v4 |
| 12 | g.51920946_51920947insCCCGGCA | CA2618864025 | ACVRL1 | c.*53_*54insCCCGGCA (n.*53_*54insCCCGGCA) | gnomAD v4 |
| 12 | g.51920947A>C | CA2618864026 | ACVRL1 | c.*54A>C (n.*54A>C) | gnomAD v4 |
| 12 | g.51920947A>G | CA2618864028 | ACVRL1 | c.*54A>G (n.*54A>G) | gnomAD v4 |
| 12 | g.51920947A>T | CA2575161709 | ACVRL1 | c.*54A>T (n.*54A>T) | gnomAD v4 |
| 12 | g.51920947_51920948insT | CA2618864034 | ACVRL1 | c.*54_*55insT (n.*54_*55insT) | gnomAD v4 |
| 12 | g.51920948G>A | CA2618864037 | ACVRL1 | c.*55G>A (n.*55G>A) | gnomAD v4 |
| 12 | g.51920948G>C | CA2618864039 | ACVRL1 | c.*55G>C (n.*55G>C) | gnomAD v4 |
| 12 | g.51920948G>T | CA2618864040 | ACVRL1 | c.*55G>T (n.*55G>T) | gnomAD v4 |
| 12 | g.51920948_51920957del | CA2618864035 | ACVRL1 | c.*55_*64del (n.*55_*64del) | gnomAD v4 |
| 12 | g.51920949T>A | CA2618864043 | ACVRL1 | c.*56T>A (n.*56T>A) | gnomAD v4 |
| 12 | g.51920949T>C | CA2520953543 | ACVRL1 | c.*56T>C (n.*56T>C) | gnomAD v4 |
| 12 | g.51920949T>G | CA2575161710 | ACVRL1 | c.*56T>G (n.*56T>G) | gnomAD v4 |
| 12 | g.51920949_51920953del | CA2618864044 | ACVRL1 | c.*56_*60del (n.*56_*60del) | gnomAD v4 |
| 12 | g.51920950G>A | CA605053194 | ACVRL1 | c.*57G>A (n.*57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920950G= | CA2036242178 | ACVRL1 | c.*57G= (n.*57G=) | |
| 12 | g.51920950G>T | CA2618864051 | ACVRL1 | c.*57G>T (n.*57G>T) | gnomAD v4 |
| 12 | g.51920951G>A | CA10641805 | ACVRL1 | c.*58G>A (n.*58G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.51920951G>C | CA2581087488 | ACVRL1 | c.*58G>C (n.*58G>C) | gnomAD v4 |
| 12 | g.51920951G= | CA2036242182 | ACVRL1 | c.*58G= (n.*58G=) | |
| 12 | g.51920951G>T | CA2581087487 | ACVRL1 | c.*58G>T (n.*58G>T) | dbSNP gnomAD v4 |
| 12 | g.51920951_51920952insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC | CA2618864059 | ACVRL1 | c.*58_*59insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC (n.*58_*59insGGGGGGGGGGGCGGGCGCGCCCCCCCCCGGGC) | gnomAD v4 |
| 12 | g.51920952del | CA2521715698 | ACVRL1 | c.*59del (n.*59del) | |
| 12 | g.51920952A>C | CA2618864060 | ACVRL1 | c.*59A>C (n.*59A>C) | gnomAD v4 |
| 12 | g.51920952A>G | CA2618864061 | ACVRL1 | c.*59A>G (n.*59A>G) | gnomAD v4 |
| 12 | g.51920952A>T | CA2618864062 | ACVRL1 | c.*59A>T (n.*59A>T) | gnomAD v4 |
| 12 | g.51920953T>A | CA2618864063 | ACVRL1 | c.*60T>A (n.*60T>A) | gnomAD v4 |
| 12 | g.51920953T>C | CA2618864064 | ACVRL1 | c.*60T>C (n.*60T>C) | gnomAD v4 |
| 12 | g.51920953T>G | CA2575161711 | ACVRL1 | c.*60T>G (n.*60T>G) | gnomAD v4 |
| 12 | g.51920954G>A | CA2618864068 | ACVRL1 | c.*61G>A (n.*61G>A) | gnomAD v4 |
| 12 | g.51920954G>C | CA689770117 | ACVRL1 | c.*61G>C (n.*61G>C) | dbSNP |
| 12 | g.51920954G= | CA2036242184 | ACVRL1 | c.*61G= (n.*61G=) | |
| 12 | g.51920954G>T | CA2618864066 | ACVRL1 | c.*61G>T (n.*61G>T) | gnomAD v4 |
| 12 | g.51920955G>A | CA2618864072 | ACVRL1 | c.*62G>A (n.*62G>A) | gnomAD v4 |
| 12 | g.51920955G>T | CA2618864073 | ACVRL1 | c.*62G>T (n.*62G>T) | gnomAD v4 |
| 12 | g.51920956T>A | CA2575161712 | ACVRL1 | c.*63T>A (n.*63T>A) | gnomAD v4 |
| 12 | g.51920956T>G | CA2575161713 | ACVRL1 | c.*63T>G (n.*63T>G) | gnomAD v4 |
| 12 | g.51920957G>A | CA479817529 | ACVRL1 | c.*64G>A (n.*64G>A) | gnomAD v4 |
| 12 | g.51920957G>T | CA2618864074 | ACVRL1 | c.*64G>T (n.*64G>T) | gnomAD v4 |
| 12 | g.51920958C>A | CA2499795854 | ACVRL1 | c.*65C>A (n.*65C>A) | gnomAD v4 |
| 12 | g.51920958C= | CA2036242187 | ACVRL1 | c.*65C= (n.*65C=) | |
| 12 | g.51920958C>G | CA2618864077 | ACVRL1 | c.*65C>G (n.*65C>G) | gnomAD v4 |
| 12 | g.51920958C>T | CA236367890 | ACVRL1 | c.*65C>T (n.*65C>T) | dbSNP gnomAD v4 |
| 12 | g.51920959C>A | CA2618864080 | ACVRL1 | c.*66C>A (n.*66C>A) | gnomAD v4 |
| 12 | g.51920959C>T | CA2618864081 | ACVRL1 | c.*66C>T (n.*66C>T) | gnomAD v4 |
| 12 | g.51920960C>A | CA2618864084 | ACVRL1 | c.*67C>A (n.*67C>A) | gnomAD v4 |
| 12 | g.51920960C>T | CA2618864087 | ACVRL1 | c.*67C>T (n.*67C>T) | gnomAD v4 |
| 12 | g.51920960_51920961del | CA2618864083 | ACVRL1 | c.*67_*68del (n.*67_*68del) | gnomAD v4 |
| 12 | g.51920961T>A | CA2618864093 | ACVRL1 | c.*68T>A (n.*68T>A) | gnomAD v4 |
| 12 | g.51920961T>C | CA2618864091 | ACVRL1 | c.*68T>C (n.*68T>C) | gnomAD v4 |
| 12 | g.51920961T>G | CA2618864090 | ACVRL1 | c.*68T>G (n.*68T>G) | gnomAD v4 |
| 12 | g.51920961_51921005del | CA2618864092 | ACVRL1 | c.*68_*112del (n.*68_*112del) | gnomAD v4 |
| 12 | g.51920962A>C | CA2618864096 | ACVRL1 | c.*69A>C (n.*69A>C) | gnomAD v4 |
| 12 | g.51920962A>G | CA2505636117 | ACVRL1 | c.*69A>G (n.*69A>G) |