| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.18785996C>A | CA506117355 | COMP | c.1458G>T (p.Leu486=) c.1299G>T (p.Leu433=) c.1359G>T (p.Leu453=) | |
| 19 | g.18785996C>G | CA506117356 | COMP | c.1458G>C (p.Leu486=) c.1299G>C (p.Leu433=) c.1359G>C (p.Leu453=) | |
| 19 | g.18785996C>T | CA506117358 | COMP | c.1458G>A (p.Leu486=) c.1299G>A (p.Leu433=) c.1359G>A (p.Leu453=) | |
| 19 | g.18785997A= | CA2326525517 | COMP | c.1457T= (p.Leu486=) c.1298T= (p.Leu433=) c.1358T= (p.Leu453=) | |
| 19 | g.18785997A>C | CA404884270 | COMP | c.1457T>G (p.Leu486Arg) c.1298T>G (p.Leu433Arg) c.1358T>G (p.Leu453Arg) | |
| 19 | g.18785997A>G | CA306255165 | COMP | c.1457T>C (p.Leu486Pro) c.1298T>C (p.Leu433Pro) c.1358T>C (p.Leu453Pro) | dbSNP |
| 19 | g.18785997A>T | CA404884272 | COMP | c.1457T>A (p.Leu486Gln) c.1298T>A (p.Leu433Gln) c.1358T>A (p.Leu453Gln) | |
| 19 | g.18785998G>A | CA506117360 | COMP | c.1456C>T (p.Leu486=) c.1297C>T (p.Leu433=) c.1357C>T (p.Leu453=) | |
| 19 | g.18785998G>C | CA404884276 | COMP | c.1456C>G (p.Leu486Val) c.1297C>G (p.Leu433Val) c.1357C>G (p.Leu453Val) | dbSNP |
| 19 | g.18785998G= | CA2326525518 | COMP | c.1456C= (p.Leu486=) c.1297C= (p.Leu433=) c.1357C= (p.Leu453=) | |
| 19 | g.18785998G>T | CA306255187 | COMP | c.1456C>A (p.Leu486Met) c.1297C>A (p.Leu433Met) c.1357C>A (p.Leu453Met) | dbSNP |
| 19 | g.18785999G>A | CA506117361 | COMP | c.1455C>T (p.Arg485=) c.1296C>T (p.Arg432=) c.1356C>T (p.Arg452=) | |
| 19 | g.18785999G>C | CA506117363 | COMP | c.1455C>G (p.Arg485=) c.1296C>G (p.Arg432=) c.1356C>G (p.Arg452=) | gnomAD v4 |
| 19 | g.18785999G>T | CA506117366 | COMP | c.1455C>A (p.Arg485=) c.1296C>A (p.Arg432=) c.1356C>A (p.Arg452=) | |
| 19 | g.18786000C>A | CA404884278 | COMP | c.1454G>T (p.Arg485Leu) c.1295G>T (p.Arg432Leu) c.1355G>T (p.Arg452Leu) | |
| 19 | g.18786000C= | CA2326525519 | COMP | c.1454G= (p.Arg485=) c.1295G= (p.Arg432=) c.1355G= (p.Arg452=) | |
| 19 | g.18786000C>G | CA404884280 | COMP | c.1454G>C (p.Arg485Pro) c.1295G>C (p.Arg432Pro) c.1355G>C (p.Arg452Pro) | |
| 19 | g.18786000C>T | CA404884282 | COMP | c.1454G>A (p.Arg485His) c.1295G>A (p.Arg432His) c.1355G>A (p.Arg452His) | ClinVar dbSNP |
| 19 | g.18786001G>A | CA404884284 | COMP | c.1453C>T (p.Arg485Cys) c.1294C>T (p.Arg432Cys) c.1354C>T (p.Arg452Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786001G>C | CA9316419 | COMP | c.1453C>G (p.Arg485Gly) c.1294C>G (p.Arg432Gly) c.1354C>G (p.Arg452Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18786001G= | CA2326525520 | COMP | c.1453C= (p.Arg485=) c.1294C= (p.Arg432=) c.1354C= (p.Arg452=) | |
| 19 | g.18786001G>T | CA404884287 | COMP | c.1453C>A (p.Arg485Ser) c.1294C>A (p.Arg432Ser) c.1354C>A (p.Arg452Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18786002G>A | CA506117370 | COMP | c.1452C>T (p.Cys484=) c.1293C>T (p.Cys431=) c.1353C>T (p.Cys451=) | dbSNP |
| 19 | g.18786002G>C | CA404884289 | COMP | c.1452C>G (p.Cys484Trp) c.1293C>G (p.Cys431Trp) c.1353C>G (p.Cys451Trp) | |
| 19 | g.18786002G= | CA2326525521 | COMP | c.1452C= (p.Cys484=) c.1293C= (p.Cys431=) c.1353C= (p.Cys451=) | |
| 19 | g.18786002G>T | CA404884290 | COMP | c.1452C>A (p.Cys484Ter) c.1293C>A (p.Cys431Ter) c.1353C>A (p.Cys451Ter) | dbSNP gnomAD v4 |
| 19 | g.18786003C>A | CA404884293 | COMP | c.1451G>T (p.Cys484Phe) c.1292G>T (p.Cys431Phe) c.1352G>T (p.Cys451Phe) | ClinVar |
| 19 | g.18786003C>G | CA404884295 | COMP | c.1451G>C (p.Cys484Ser) c.1292G>C (p.Cys431Ser) c.1352G>C (p.Cys451Ser) | |
| 19 | g.18786003C>T | CA404884296 | COMP | c.1451G>A (p.Cys484Tyr) c.1292G>A (p.Cys431Tyr) c.1352G>A (p.Cys451Tyr) | |
| 19 | g.18786004A>C | CA404884299 | COMP | c.1450T>G (p.Cys484Gly) c.1291T>G (p.Cys431Gly) c.1351T>G (p.Cys451Gly) | |
| 19 | g.18786004A>G | CA404884302 | COMP | c.1450T>C (p.Cys484Arg) c.1291T>C (p.Cys431Arg) c.1351T>C (p.Cys451Arg) | |
| 19 | g.18786004A>T | CA404884301 | COMP | c.1450T>A (p.Cys484Ser) c.1291T>A (p.Cys431Ser) c.1351T>A (p.Cys451Ser) | |
| 19 | g.18786005G>A | CA506117376 | COMP | c.1449C>T (p.Asn483=) c.1290C>T (p.Asn430=) c.1350C>T (p.Asn450=) | |
| 19 | g.18786005G>C | CA404884304 | COMP | c.1449C>G (p.Asn483Lys) c.1290C>G (p.Asn430Lys) c.1350C>G (p.Asn450Lys) | |
| 19 | g.18786005G>T | CA404884306 | COMP | c.1449C>A (p.Asn483Lys) c.1290C>A (p.Asn430Lys) c.1350C>A (p.Asn450Lys) | |
| 19 | g.18786006T>A | CA404884307 | COMP | c.1448A>T (p.Asn483Ile) c.1289A>T (p.Asn430Ile) c.1349A>T (p.Asn450Ile) | |
| 19 | g.18786006T>C | CA404884310 | COMP | c.1448A>G (p.Asn483Ser) c.1289A>G (p.Asn430Ser) c.1349A>G (p.Asn450Ser) | |
| 19 | g.18786006T>G | CA404884312 | COMP | c.1448A>C (p.Asn483Thr) c.1289A>C (p.Asn430Thr) c.1349A>C (p.Asn450Thr) | |
| 19 | g.18786007T>A | CA404884313 | COMP | c.1447A>T (p.Asn483Tyr) c.1288A>T (p.Asn430Tyr) c.1348A>T (p.Asn450Tyr) | |
| 19 | g.18786007T>C | CA404884314 | COMP | c.1447A>G (p.Asn483Asp) c.1288A>G (p.Asn430Asp) c.1348A>G (p.Asn450Asp) | |
| 19 | g.18786007T>G | CA404884315 | COMP | c.1447A>C (p.Asn483His) c.1288A>C (p.Asn430His) c.1348A>C (p.Asn450His) | |
| 19 | g.18786008G>A | CA9316420 | COMP | c.1446C>T (p.Asp482=) c.1287C>T (p.Asp429=) c.1347C>T (p.Asp449=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18786008G>C | CA404884316 | COMP | c.1446C>G (p.Asp482Glu) c.1287C>G (p.Asp429Glu) c.1347C>G (p.Asp449Glu) | |
| 19 | g.18786008G= | CA2326525522 | COMP | c.1446C= (p.Asp482=) c.1287C= (p.Asp429=) c.1347C= (p.Asp449=) | |
| 19 | g.18786008G>T | CA404884317 | COMP | c.1446C>A (p.Asp482Glu) c.1287C>A (p.Asp429Glu) c.1347C>A (p.Asp449Glu) | gnomAD v4 |
| 19 | g.18786008_18786009delinsGT | CA2326525523 | COMP | c.1445_1446delinsAC (p.Asp482=) c.1286_1287delinsAC (p.Asp429=) c.1346_1347delinsAC (p.Asp449=) | |
| 19 | g.18786009del | CA306255220 | COMP | c.1445del (p.Asp482AlafsTer?) c.1286del (p.Asp429AlafsTer?) c.1346del (p.Asp449AlafsTer?) | dbSNP gnomAD v4 |
| 19 | g.18786009T>A | CA404884323 | COMP | c.1445A>T (p.Asp482Val) c.1286A>T (p.Asp429Val) c.1346A>T (p.Asp449Val) | ClinVar dbSNP |
| 19 | g.18786009T>C | CA404884319 | COMP | c.1445A>G (p.Asp482Gly) c.1286A>G (p.Asp429Gly) c.1346A>G (p.Asp449Gly) | |
| 19 | g.18786009T>G | CA404884318 | COMP | c.1445A>C (p.Asp482Ala) c.1286A>C (p.Asp429Ala) c.1346A>C (p.Asp449Ala) |