| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583062C>A | CA045761 | DSP | c.4471C>A (p.Arg1491=) c.5800C>A (p.Arg1934=) c.4003C>A (p.Arg1335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583062C= | CA1608607078 | DSP | c.4471C= (p.Arg1491=) c.5800C= (p.Arg1934=) c.4003C= (p.Arg1335=) | |
| 6 | g.7583062C>G | CA362689439 | DSP | c.4471C>G (p.Arg1491Gly) c.5800C>G (p.Arg1934Gly) c.4003C>G (p.Arg1335Gly) | gnomAD v4 |
| 6 | g.7583062C>T | CA006621 | DSP | c.4471C>T (p.Arg1491Ter) c.5800C>T (p.Arg1934Ter) c.4003C>T (p.Arg1335Ter) | ClinVar dbSNP |
| 6 | g.7583063G>A | CA362689440 | DSP | c.4472G>A (p.Arg1491Gln) c.5801G>A (p.Arg1934Gln) c.4004G>A (p.Arg1335Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583063G>C | CA362689441 | DSP | c.4472G>C (p.Arg1491Pro) c.5801G>C (p.Arg1934Pro) c.4004G>C (p.Arg1335Pro) | |
| 6 | g.7583063G= | CA1608607087 | DSP | c.4472G= (p.Arg1491=) c.5801G= (p.Arg1934=) c.4004G= (p.Arg1335=) | |
| 6 | g.7583063G>T | CA362689442 | DSP | c.4472G>T (p.Arg1491Leu) c.5801G>T (p.Arg1934Leu) c.4004G>T (p.Arg1335Leu) | |
| 6 | g.7583064A= | CA1608607094 | DSP | c.4473A= (p.Arg1491=) c.5802A= (p.Arg1934=) c.4005A= (p.Arg1335=) | |
| 6 | g.7583064A>C | CA448715595 | DSP | c.4473A>C (p.Arg1491=) c.5802A>C (p.Arg1934=) c.4005A>C (p.Arg1335=) | |
| 6 | g.7583064A>G | CA448715596 | DSP | c.4473A>G (p.Arg1491=) c.5802A>G (p.Arg1934=) c.4005A>G (p.Arg1335=) | ClinVar dbSNP |
| 6 | g.7583064A>T | CA448715597 | DSP | c.4473A>T (p.Arg1491=) c.5802A>T (p.Arg1934=) c.4005A>T (p.Arg1335=) | ClinVar gnomAD v4 |
| 6 | g.7583065T>A | CA362689445 | DSP | c.4474T>A (p.Tyr1492Asn) c.5803T>A (p.Tyr1935Asn) c.4006T>A (p.Tyr1336Asn) | |
| 6 | g.7583065T>C | CA362689443 | DSP | c.4474T>C (p.Tyr1492His) c.5803T>C (p.Tyr1935His) c.4006T>C (p.Tyr1336His) | |
| 6 | g.7583065T>G | CA362689444 | DSP | c.4474T>G (p.Tyr1492Asp) c.5803T>G (p.Tyr1935Asp) c.4006T>G (p.Tyr1336Asp) | |
| 6 | g.7583066A= | CA1608607101 | DSP | c.4475A= (p.Tyr1492=) c.5804A= (p.Tyr1935=) c.4007A= (p.Tyr1336=) | |
| 6 | g.7583066A>C | CA362689446 | DSP | c.4475A>C (p.Tyr1492Ser) c.5804A>C (p.Tyr1935Ser) c.4007A>C (p.Tyr1336Ser) | |
| 6 | g.7583066A>G | CA045770 | DSP | c.4475A>G (p.Tyr1492Cys) c.5804A>G (p.Tyr1935Cys) c.4007A>G (p.Tyr1336Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583066A>T | CA362689447 | DSP | c.4475A>T (p.Tyr1492Phe) c.5804A>T (p.Tyr1935Phe) c.4007A>T (p.Tyr1336Phe) | |
| 6 | g.7583067T>A | CA362689448 | DSP | c.4476T>A (p.Tyr1492Ter) c.5805T>A (p.Tyr1935Ter) c.4008T>A (p.Tyr1336Ter) | |
| 6 | g.7583067T>C | CA045784 | DSP | c.4476T>C (p.Tyr1492=) c.5805T>C (p.Tyr1935=) c.4008T>C (p.Tyr1336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583067T>G | CA362689449 | DSP | c.4476T>G (p.Tyr1492Ter) c.5805T>G (p.Tyr1935Ter) c.4008T>G (p.Tyr1336Ter) | |
| 6 | g.7583067T= | CA1608607105 | DSP | c.4476T= (p.Tyr1492=) c.5805T= (p.Tyr1935=) c.4008T= (p.Tyr1336=) | |
| 6 | g.7583068C>A | CA362689450 | DSP | c.4477C>A (p.Gln1493Lys) c.5806C>A (p.Gln1936Lys) c.4009C>A (p.Gln1337Lys) | |
| 6 | g.7583068C>G | CA362689451 | DSP | c.4477C>G (p.Gln1493Glu) c.5806C>G (p.Gln1936Glu) c.4009C>G (p.Gln1337Glu) | |
| 6 | g.7583068C>T | CA362689452 | DSP | c.4477C>T (p.Gln1493Ter) c.5806C>T (p.Gln1936Ter) c.4009C>T (p.Gln1337Ter) | ClinVar dbSNP |
| 6 | g.7583069A= | CA1608607111 | DSP | c.4478A= (p.Gln1493=) c.5807A= (p.Gln1936=) c.4010A= (p.Gln1337=) | |
| 6 | g.7583069A>C | CA362689453 | DSP | c.4478A>C (p.Gln1493Pro) c.5807A>C (p.Gln1936Pro) c.4010A>C (p.Gln1337Pro) | |
| 6 | g.7583069A>G | CA362689454 | DSP | c.4478A>G (p.Gln1493Arg) c.5807A>G (p.Gln1936Arg) c.4010A>G (p.Gln1337Arg) | gnomAD v4 |
| 6 | g.7583069A>T | CA362689455 | DSP | c.4478A>T (p.Gln1493Leu) c.5807A>T (p.Gln1936Leu) c.4010A>T (p.Gln1337Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583070G>A | CA448715602 | DSP | c.4479G>A (p.Gln1493=) c.5808G>A (p.Gln1936=) c.4011G>A (p.Gln1337=) | ClinVar |
| 6 | g.7583070G>C | CA045802 | DSP | c.4479G>C (p.Gln1493His) c.5808G>C (p.Gln1936His) c.4011G>C (p.Gln1337His) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583070G= | CA1608607118 | DSP | c.4479G= (p.Gln1493=) c.5808G= (p.Gln1936=) c.4011G= (p.Gln1337=) | |
| 6 | g.7583070G>T | CA362689456 | DSP | c.4479G>T (p.Gln1493His) c.5808G>T (p.Gln1936His) c.4011G>T (p.Gln1337His) | |
| 6 | g.7583071A>C | CA448715603 | DSP | c.4480A>C (p.Arg1494=) c.5809A>C (p.Arg1937=) c.4012A>C (p.Arg1338=) | |
| 6 | g.7583071A>G | CA362689457 | DSP | c.4480A>G (p.Arg1494Gly) c.5809A>G (p.Arg1937Gly) c.4012A>G (p.Arg1338Gly) | |
| 6 | g.7583071A>T | CA362689458 | DSP | c.4480A>T (p.Arg1494Trp) c.5809A>T (p.Arg1937Trp) c.4012A>T (p.Arg1338Trp) | |
| 6 | g.7583072G>A | CA045816 | DSP | c.4481G>A (p.Arg1494Lys) c.5810G>A (p.Arg1937Lys) c.4013G>A (p.Arg1338Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583072G>C | CA362689459 | DSP | c.4481G>C (p.Arg1494Thr) c.5810G>C (p.Arg1937Thr) c.4013G>C (p.Arg1338Thr) | |
| 6 | g.7583072G= | CA1608607120 | DSP | c.4481G= (p.Arg1494=) c.5810G= (p.Arg1937=) c.4013G= (p.Arg1338=) | |
| 6 | g.7583072G>T | CA362689460 | DSP | c.4481G>T (p.Arg1494Met) c.5810G>T (p.Arg1937Met) c.4013G>T (p.Arg1338Met) | |
| 6 | g.7583073G>A | CA448715605 | DSP | c.4482G>A (p.Arg1494=) c.5811G>A (p.Arg1937=) c.4014G>A (p.Arg1338=) | |
| 6 | g.7583073G>C | CA362689461 | DSP | c.4482G>C (p.Arg1494Ser) c.5811G>C (p.Arg1937Ser) c.4014G>C (p.Arg1338Ser) | |
| 6 | g.7583073G>T | CA362689462 | DSP | c.4482G>T (p.Arg1494Ser) c.5811G>T (p.Arg1937Ser) c.4014G>T (p.Arg1338Ser) | |
| 6 | g.7583074G>A | CA362689463 | DSP | c.4483G>A (p.Glu1495Lys) c.5812G>A (p.Glu1938Lys) c.4015G>A (p.Glu1339Lys) | COSMIC |
| 6 | g.7583074G>C | CA362689464 | DSP | c.4483G>C (p.Glu1495Gln) c.5812G>C (p.Glu1938Gln) c.4015G>C (p.Glu1339Gln) | |
| 6 | g.7583074G>T | CA362689465 | DSP | c.4483G>T (p.Glu1495Ter) c.5812G>T (p.Glu1938Ter) c.4015G>T (p.Glu1339Ter) |