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 |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 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) | |
| 6 | g.7583075A>C | CA362689466 | DSP | c.4484A>C (p.Glu1495Ala) c.5813A>C (p.Glu1938Ala) c.4016A>C (p.Glu1339Ala) | |
| 6 | g.7583075A>G | CA362689467 | DSP | c.4484A>G (p.Glu1495Gly) c.5813A>G (p.Glu1938Gly) c.4016A>G (p.Glu1339Gly) | |
| 6 | g.7583075A>T | CA362689468 | DSP | c.4484A>T (p.Glu1495Val) c.5813A>T (p.Glu1938Val) c.4016A>T (p.Glu1339Val) | |
| 6 | g.7583076G>A | CA448715609 | DSP | c.4485G>A (p.Glu1495=) c.5814G>A (p.Glu1938=) c.4017G>A (p.Glu1339=) | gnomAD v4 |
| 6 | g.7583076G>C | CA362689470 | DSP | c.4485G>C (p.Glu1495Asp) c.5814G>C (p.Glu1938Asp) c.4017G>C (p.Glu1339Asp) | |
| 6 | g.7583076G>T | CA362689469 | DSP | c.4485G>T (p.Glu1495Asp) c.5814G>T (p.Glu1938Asp) c.4017G>T (p.Glu1339Asp) | |
| 6 | g.7583077A>C | CA362689471 | DSP | c.4486A>C (p.Ile1496Leu) c.5815A>C (p.Ile1939Leu) c.4018A>C (p.Ile1340Leu) | |
| 6 | g.7583077A>G | CA362689472 | DSP | c.4486A>G (p.Ile1496Val) c.5815A>G (p.Ile1939Val) c.4018A>G (p.Ile1340Val) | |
| 6 | g.7583077A>T | CA362689473 | DSP | c.4486A>T (p.Ile1496Phe) c.5815A>T (p.Ile1939Phe) c.4018A>T (p.Ile1340Phe) | |
| 6 | g.7583078T>A | CA362689474 | DSP | c.4487T>A (p.Ile1496Asn) c.5816T>A (p.Ile1939Asn) c.4019T>A (p.Ile1340Asn) | |
| 6 | g.7583078T>C | CA362689475 | DSP | c.4487T>C (p.Ile1496Thr) c.5816T>C (p.Ile1939Thr) c.4019T>C (p.Ile1340Thr) | ClinVar |
| 6 | g.7583078T>G | CA362689476 | DSP | c.4487T>G (p.Ile1496Ser) c.5816T>G (p.Ile1939Ser) c.4019T>G (p.Ile1340Ser) | |
| 6 | g.7583079T>A | CA448715613 | DSP | c.4488T>A (p.Ile1496=) c.5817T>A (p.Ile1939=) c.4020T>A (p.Ile1340=) | |
| 6 | g.7583079T>C | CA448715615 | DSP | c.4488T>C (p.Ile1496=) c.5817T>C (p.Ile1939=) c.4020T>C (p.Ile1340=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583079T>G | CA362689477 | DSP | c.4488T>G (p.Ile1496Met) c.5817T>G (p.Ile1939Met) c.4020T>G (p.Ile1340Met) | gnomAD v4 |
| 6 | g.7583079T= | CA1608607128 | DSP | c.4488T= (p.Ile1496=) c.5817T= (p.Ile1939=) c.4020T= (p.Ile1340=) | |
| 6 | g.7583080G>A | CA362689478 | DSP | c.4489G>A (p.Asp1497Asn) c.5818G>A (p.Asp1940Asn) c.4021G>A (p.Asp1341Asn) | COSMIC |
| 6 | g.7583080G>C | CA362689479 | DSP | c.4489G>C (p.Asp1497His) c.5818G>C (p.Asp1940His) c.4021G>C (p.Asp1341His) | |
| 6 | g.7583080G>T | CA362689480 | DSP | c.4489G>T (p.Asp1497Tyr) c.5818G>T (p.Asp1940Tyr) c.4021G>T (p.Asp1341Tyr) | |
| 6 | g.7583081A= | CA1608607134 | DSP | c.4490A= (p.Asp1497=) c.5819A= (p.Asp1940=) c.4022A= (p.Asp1341=) | |
| 6 | g.7583081A>C | CA362689481 | DSP | c.4490A>C (p.Asp1497Ala) c.5819A>C (p.Asp1940Ala) c.4022A>C (p.Asp1341Ala) | |
| 6 | g.7583081A>G | CA362689482 | DSP | c.4490A>G (p.Asp1497Gly) c.5819A>G (p.Asp1940Gly) c.4022A>G (p.Asp1341Gly) | |
| 6 | g.7583081A>T | CA362689483 | DSP | c.4490A>T (p.Asp1497Val) c.5819A>T (p.Asp1940Val) c.4022A>T (p.Asp1341Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583082T>A | CA362689485 | DSP | c.4491T>A (p.Asp1497Glu) c.5820T>A (p.Asp1940Glu) c.4023T>A (p.Asp1341Glu) | |
| 6 | g.7583082T>C | CA3628100 | DSP | c.4491T>C (p.Asp1497=) c.5820T>C (p.Asp1940=) c.4023T>C (p.Asp1341=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583082T>G | CA362689484 | DSP | c.4491T>G (p.Asp1497Glu) c.5820T>G (p.Asp1940Glu) c.4023T>G (p.Asp1341Glu) | |
| 6 | g.7583082T= | CA1608607148 | DSP | c.4491T= (p.Asp1497=) c.5820T= (p.Asp1940=) c.4023T= (p.Asp1341=) | |
| 6 | g.7583082_7583088delinsTAAACTC | CA1608607153 | DSP | c.4491_4497delinsTAAACTC (p.Asp1497=) c.5820_5826delinsTAAACTC (p.Asp1940=) c.4023_4029delinsTAAACTC (p.Asp1341=) | |
| 6 | g.7583083A= | CA1608607166 | DSP | c.4492A= (p.Lys1498=) c.5821A= (p.Lys1941=) c.4024A= (p.Lys1342=) | |
| 6 | g.7583083A>C | CA362689486 | DSP | c.4492A>C (p.Lys1498Gln) c.5821A>C (p.Lys1941Gln) c.4024A>C (p.Lys1342Gln) | |
| 6 | g.7583083A>G | CA006629 | DSP | c.4492A>G (p.Lys1498Glu) c.5821A>G (p.Lys1941Glu) c.4024A>G (p.Lys1342Glu) | ClinVar dbSNP |
| 6 | g.7583083A>T | CA362689487 | DSP | c.4492A>T (p.Lys1498Ter) c.5821A>T (p.Lys1941Ter) c.4024A>T (p.Lys1342Ter) | |
| 6 | g.7583084_7583089del | CA3628099 | DSP | c.4493_4498del (p.Lys1498_Leu1499del) c.5822_5827del (p.Lys1941_Leu1942del) c.4025_4030del (p.Lys1342_Leu1343del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583084A= | CA1608607173 | DSP | c.4493A= (p.Lys1498=) c.5822A= (p.Lys1941=) c.4025A= (p.Lys1342=) | |
| 6 | g.7583084A>C | CA045860 | DSP | c.4493A>C (p.Lys1498Thr) c.5822A>C (p.Lys1941Thr) c.4025A>C (p.Lys1342Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583084A>G | CA362689488 | DSP | c.4493A>G (p.Lys1498Arg) c.5822A>G (p.Lys1941Arg) c.4025A>G (p.Lys1342Arg) | |
| 6 | g.7583084A>T | CA362689489 | DSP | c.4493A>T (p.Lys1498Ile) c.5822A>T (p.Lys1941Ile) c.4025A>T (p.Lys1342Ile) | |
| 6 | g.7583085A= | CA1608607179 | DSP | c.4494A= (p.Lys1498=) c.5823A= (p.Lys1941=) c.4026A= (p.Lys1342=) | |
| 6 | g.7583085A>C | CA362689490 | DSP | c.4494A>C (p.Lys1498Asn) c.5823A>C (p.Lys1941Asn) c.4026A>C (p.Lys1342Asn) | |
| 6 | g.7583085A>G | CA133972444 | DSP | c.4494A>G (p.Lys1498=) c.5823A>G (p.Lys1941=) c.4026A>G (p.Lys1342=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583085A>T | CA362689491 | DSP | c.4494A>T (p.Lys1498Asn) c.5823A>T (p.Lys1941Asn) c.4026A>T (p.Lys1342Asn) | |
| 6 | g.7583086C>A | CA362689492 | DSP | c.4495C>A (p.Leu1499Ile) c.5824C>A (p.Leu1942Ile) c.4027C>A (p.Leu1343Ile) | |
| 6 | g.7583086C>G | CA362689493 | DSP | c.4495C>G (p.Leu1499Val) c.5824C>G (p.Leu1942Val) c.4027C>G (p.Leu1343Val) | |
| 6 | g.7583086C>T | CA362689494 | DSP | c.4495C>T (p.Leu1499Phe) c.5824C>T (p.Leu1942Phe) c.4027C>T (p.Leu1343Phe) | |
| 6 | g.7583087T>A | CA362689495 | DSP | c.4496T>A (p.Leu1499His) c.5825T>A (p.Leu1942His) c.4028T>A (p.Leu1343His) | |
| 6 | g.7583087T>C | CA362689496 | DSP | c.4496T>C (p.Leu1499Pro) c.5825T>C (p.Leu1942Pro) c.4028T>C (p.Leu1343Pro) | |
| 6 | g.7583087T>G | CA362689497 | DSP | c.4496T>G (p.Leu1499Arg) c.5825T>G (p.Leu1942Arg) c.4028T>G (p.Leu1343Arg) | |
| 6 | g.7583088C>A | CA448715624 | DSP | c.4497C>A (p.Leu1499=) c.5826C>A (p.Leu1942=) c.4029C>A (p.Leu1343=) | COSMIC |
| 6 | g.7583088C>G | CA448715623 | DSP | c.4497C>G (p.Leu1499=) c.5826C>G (p.Leu1942=) c.4029C>G (p.Leu1343=) | |
| 6 | g.7583088C>T | CA448715622 | DSP | c.4497C>T (p.Leu1499=) c.5826C>T (p.Leu1942=) c.4029C>T (p.Leu1343=) | gnomAD v4 |
| 6 | g.7583091_7583094del | CA2580075513 | DSP | c.4500_4503del (p.Arg1500SerfsTer28) c.5829_5832del (p.Arg1943SerfsTer28) c.4032_4035del (p.Arg1344SerfsTer28) | ClinVar |
| 6 | g.7583089A= | CA1608607186 | DSP | c.4498A= (p.Arg1500=) c.5827A= (p.Arg1943=) c.4030A= (p.Arg1344=) | |
| 6 | g.7583089A>C | CA448715625 | DSP | c.4498A>C (p.Arg1500=) c.5827A>C (p.Arg1943=) c.4030A>C (p.Arg1344=) | |
| 6 | g.7583089A>G | CA006637 | DSP | c.4498A>G (p.Arg1500Gly) c.5827A>G (p.Arg1943Gly) c.4030A>G (p.Arg1344Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7583089A>T | CA362689498 | DSP | c.4498A>T (p.Arg1500Ter) c.5827A>T (p.Arg1943Ter) c.4030A>T (p.Arg1344Ter) | |
| 6 | g.7583090G>A | CA362689499 | DSP | c.4499G>A (p.Arg1500Lys) c.5828G>A (p.Arg1943Lys) c.4031G>A (p.Arg1344Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583090G>C | CA362689501 | DSP | c.4499G>C (p.Arg1500Thr) c.5828G>C (p.Arg1943Thr) c.4031G>C (p.Arg1344Thr) | |
| 6 | g.7583090G= | CA1608607190 | DSP | c.4499G= (p.Arg1500=) c.5828G= (p.Arg1943=) c.4031G= (p.Arg1344=) | |
| 6 | g.7583090G>T | CA362689500 | DSP | c.4499G>T (p.Arg1500Ile) c.5828G>T (p.Arg1943Ile) c.4031G>T (p.Arg1344Ile) | ClinVar |
| 6 | g.7583091A>C | CA362689502 | DSP | c.4500A>C (p.Arg1500Ser) c.5829A>C (p.Arg1943Ser) c.4032A>C (p.Arg1344Ser) | |
| 6 | g.7583091A>G | CA448715629 | DSP | c.4500A>G (p.Arg1500=) c.5829A>G (p.Arg1943=) c.4032A>G (p.Arg1344=) | |
| 6 | g.7583091A>T | CA362689503 | DSP | c.4500A>T (p.Arg1500Ser) c.5829A>T (p.Arg1943Ser) c.4032A>T (p.Arg1344Ser) | |
| 6 | g.7583092C>A | CA362689504 | DSP | c.4501C>A (p.Gln1501Lys) c.5830C>A (p.Gln1944Lys) c.4033C>A (p.Gln1345Lys) | |
| 6 | g.7583092C>G | CA362689505 | DSP | c.4501C>G (p.Gln1501Glu) c.5830C>G (p.Gln1944Glu) c.4033C>G (p.Gln1345Glu) | |
| 6 | g.7583092C>T | CA362689506 | DSP | c.4501C>T (p.Gln1501Ter) c.5830C>T (p.Gln1944Ter) c.4033C>T (p.Gln1345Ter) | ClinVar dbSNP |
| 6 | g.7583093A>C | CA362689507 | DSP | c.4502A>C (p.Gln1501Pro) c.5831A>C (p.Gln1944Pro) c.4034A>C (p.Gln1345Pro) | |
| 6 | g.7583093A>G | CA362689508 | DSP | c.4502A>G (p.Gln1501Arg) c.5831A>G (p.Gln1944Arg) c.4034A>G (p.Gln1345Arg) | |
| 6 | g.7583093A>T | CA362689509 | DSP | c.4502A>T (p.Gln1501Leu) c.5831A>T (p.Gln1944Leu) c.4034A>T (p.Gln1345Leu) | |
| 6 | g.7583094G>A | CA448715631 | DSP | c.4503G>A (p.Gln1501=) c.5832G>A (p.Gln1944=) c.4035G>A (p.Gln1345=) | |
| 6 | g.7583094G>C | CA362689510 | DSP | c.4503G>C (p.Gln1501His) c.5832G>C (p.Gln1944His) c.4035G>C (p.Gln1345His) | |
| 6 | g.7583094G>T | CA362689511 | DSP | c.4503G>T (p.Gln1501His) c.5832G>T (p.Gln1944His) c.4035G>T (p.Gln1345His) | |
| 6 | g.7583095C>A | CA362689513 | DSP | c.4504C>A (p.Arg1502Ser) c.5833C>A (p.Arg1945Ser) c.4036C>A (p.Arg1346Ser) | |
| 6 | g.7583095C= | CA1608607196 | DSP | c.4504C= (p.Arg1502=) c.5833C= (p.Arg1945=) c.4036C= (p.Arg1346=) | |
| 6 | g.7583095C>G | CA362689514 | DSP | c.4504C>G (p.Arg1502Gly) c.5833C>G (p.Arg1945Gly) c.4036C>G (p.Arg1346Gly) | |
| 6 | g.7583095C>T | CA362689512 | DSP | c.4504C>T (p.Arg1502Cys) c.5833C>T (p.Arg1945Cys) c.4036C>T (p.Arg1346Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583096G>A | CA045886 | DSP | c.4505G>A (p.Arg1502His) c.5834G>A (p.Arg1945His) c.4037G>A (p.Arg1346His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583096G>C | CA362689515 | DSP | c.4505G>C (p.Arg1502Pro) c.5834G>C (p.Arg1945Pro) c.4037G>C (p.Arg1346Pro) | |
| 6 | g.7583096G= | CA1608607203 | DSP | c.4505G= (p.Arg1502=) c.5834G= (p.Arg1945=) c.4037G= (p.Arg1346=) | |
| 6 | g.7583096G>T | CA362689516 | DSP | c.4505G>T (p.Arg1502Leu) c.5834G>T (p.Arg1945Leu) c.4037G>T (p.Arg1346Leu) | gnomAD v4 |
| 6 | g.7583097C>A | CA448715636 | DSP | c.4506C>A (p.Arg1502=) c.5835C>A (p.Arg1945=) c.4038C>A (p.Arg1346=) | |
| 6 | g.7583097C= | CA1608607214 | DSP | c.4506C= (p.Arg1502=) c.5835C= (p.Arg1945=) c.4038C= (p.Arg1346=) | |
| 6 | g.7583097C>G | CA448715637 | DSP | c.4506C>G (p.Arg1502=) c.5835C>G (p.Arg1945=) c.4038C>G (p.Arg1346=) | |
| 6 | g.7583097C>T | CA448715638 | DSP | c.4506C>T (p.Arg1502=) c.5835C>T (p.Arg1945=) c.4038C>T (p.Arg1346=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583098C>A | CA362689517 | DSP | c.4507C>A (p.Pro1503Thr) c.5836C>A (p.Pro1946Thr) c.4039C>A (p.Pro1347Thr) | COSMIC |
| 6 | g.7583098C= | CA1608607227 | DSP | c.4507C= (p.Pro1503=) c.5836C= (p.Pro1946=) c.4039C= (p.Pro1347=) | |
| 6 | g.7583098C>G | CA362689518 | DSP | c.4507C>G (p.Pro1503Ala) c.5836C>G (p.Pro1946Ala) c.4039C>G (p.Pro1347Ala) | |
| 6 | g.7583098C>T | CA133972481 | DSP | c.4507C>T (p.Pro1503Ser) c.5836C>T (p.Pro1946Ser) c.4039C>T (p.Pro1347Ser) | dbSNP gnomAD v4 |
| 6 | g.7583099C>A | CA362689521 | DSP | c.4508C>A (p.Pro1503Gln) c.5837C>A (p.Pro1946Gln) c.4040C>A (p.Pro1347Gln) | |
| 6 | g.7583099C= | CA1608607232 | DSP | c.4508C= (p.Pro1503=) c.5837C= (p.Pro1946=) c.4040C= (p.Pro1347=) | |
| 6 | g.7583099C>G | CA362689519 | DSP | c.4508C>G (p.Pro1503Arg) c.5837C>G (p.Pro1946Arg) c.4040C>G (p.Pro1347Arg) | |
| 6 | g.7583099C>T | CA362689520 | DSP | c.4508C>T (p.Pro1503Leu) c.5837C>T (p.Pro1946Leu) c.4040C>T (p.Pro1347Leu) | gnomAD v4 |
| 6 | g.7583100A= | CA1608607236 | DSP | c.4509A= (p.Pro1503=) c.5838A= (p.Pro1946=) c.4041A= (p.Pro1347=) | |
| 6 | g.7583100A>C | CA133972545 | DSP | c.4509A>C (p.Pro1503=) c.5838A>C (p.Pro1946=) c.4041A>C (p.Pro1347=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583100A>G | CA448715641 | DSP | c.4509A>G (p.Pro1503=) c.5838A>G (p.Pro1946=) c.4041A>G (p.Pro1347=) | ClinVar |
| 6 | g.7583100A>T | CA448715639 | DSP | c.4509A>T (p.Pro1503=) c.5838A>T (p.Pro1946=) c.4041A>T (p.Pro1347=) | |
| 6 | g.7583102_7583103dup | CA133972518 | DSP | c.4511_4512dup (p.Gly1505MetfsTer25) c.5840_5841dup (p.Gly1948MetfsTer25) c.4043_4044dup (p.Gly1349MetfsTer25) | ClinVar dbSNP |
| 6 | g.7583101T>A | CA362689522 | DSP | c.4510T>A (p.Tyr1504Asn) c.5839T>A (p.Tyr1947Asn) c.4042T>A (p.Tyr1348Asn) | |
| 6 | g.7583101T>C | CA045899 | DSP | c.4510T>C (p.Tyr1504His) c.5839T>C (p.Tyr1947His) c.4042T>C (p.Tyr1348His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583101T>G | CA362689523 | DSP | c.4510T>G (p.Tyr1504Asp) c.5839T>G (p.Tyr1947Asp) c.4042T>G (p.Tyr1348Asp) | |
| 6 | g.7583101T= | CA1608607240 | DSP | c.4510T= (p.Tyr1504=) c.5839T= (p.Tyr1947=) c.4042T= (p.Tyr1348=) | |
| 6 | g.7583102A= | CA1608607247 | DSP | c.4511A= (p.Tyr1504=) c.5840A= (p.Tyr1947=) c.4043A= (p.Tyr1348=) | |
| 6 | g.7583102A>C | CA362689524 | DSP | c.4511A>C (p.Tyr1504Ser) c.5840A>C (p.Tyr1947Ser) c.4043A>C (p.Tyr1348Ser) | |
| 6 | g.7583102A>G | CA362689526 | DSP | c.4511A>G (p.Tyr1504Cys) c.5840A>G (p.Tyr1947Cys) c.4043A>G (p.Tyr1348Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583102A>T | CA362689525 | DSP | c.4511A>T (p.Tyr1504Phe) c.5840A>T (p.Tyr1947Phe) c.4043A>T (p.Tyr1348Phe) | |
| 6 | g.7583103T>A | CA362689527 | DSP | c.4512T>A (p.Tyr1504Ter) c.5841T>A (p.Tyr1947Ter) c.4044T>A (p.Tyr1348Ter) | |
| 6 | g.7583103T>C | CA448715644 | DSP | c.4512T>C (p.Tyr1504=) c.5841T>C (p.Tyr1947=) c.4044T>C (p.Tyr1348=) | gnomAD v4 |
| 6 | g.7583103T>G | CA362689528 | DSP | c.4512T>G (p.Tyr1504Ter) c.5841T>G (p.Tyr1947Ter) c.4044T>G (p.Tyr1348Ter) | |
| 6 | g.7583104G>A | CA362689529 | DSP | c.4513G>A (p.Gly1505Arg) c.5842G>A (p.Gly1948Arg) c.4045G>A (p.Gly1349Arg) | |
| 6 | g.7583104G>C | CA362689530 | DSP | c.4513G>C (p.Gly1505Arg) c.5842G>C (p.Gly1948Arg) c.4045G>C (p.Gly1349Arg) | |
| 6 | g.7583104G>T | CA362689531 | DSP | c.4513G>T (p.Gly1505Trp) c.5842G>T (p.Gly1948Trp) c.4045G>T (p.Gly1349Trp) | gnomAD v4 |
| 6 | g.7583105G>A | CA362689532 | DSP | c.4514G>A (p.Gly1505Glu) c.5843G>A (p.Gly1948Glu) c.4046G>A (p.Gly1349Glu) | |
| 6 | g.7583105G>C | CA362689533 | DSP | c.4514G>C (p.Gly1505Ala) c.5843G>C (p.Gly1948Ala) c.4046G>C (p.Gly1349Ala) | |
| 6 | g.7583105G>T | CA362689534 | DSP | c.4514G>T (p.Gly1505Val) c.5843G>T (p.Gly1948Val) c.4046G>T (p.Gly1349Val) | |
| 6 | g.7583106G>A | CA448715648 | DSP | c.4515G>A (p.Gly1505=) c.5844G>A (p.Gly1948=) c.4047G>A (p.Gly1349=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583106G>C | CA448715649 | DSP | c.4515G>C (p.Gly1505=) c.5844G>C (p.Gly1948=) c.4047G>C (p.Gly1349=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583106G= | CA1608607253 | DSP | c.4515G= (p.Gly1505=) c.5844G= (p.Gly1948=) c.4047G= (p.Gly1349=) | |
| 6 | g.7583106G>T | CA448715650 | DSP | c.4515G>T (p.Gly1505=) c.5844G>T (p.Gly1948=) c.4047G>T (p.Gly1349=) | |
| 6 | g.7583107T>A | CA362689535 | DSP | c.4516T>A (p.Ser1506Thr) c.5845T>A (p.Ser1949Thr) c.4048T>A (p.Ser1350Thr) | |
| 6 | g.7583107T>C | CA362689536 | DSP | c.4516T>C (p.Ser1506Pro) c.5845T>C (p.Ser1949Pro) c.4048T>C (p.Ser1350Pro) | |
| 6 | g.7583107T>G | CA362689537 | DSP | c.4516T>G (p.Ser1506Ala) c.5845T>G (p.Ser1949Ala) c.4048T>G (p.Ser1350Ala) | |
| 6 | g.7583108C>A | CA362689539 | DSP | c.4517C>A (p.Ser1506Tyr) c.5846C>A (p.Ser1949Tyr) c.4049C>A (p.Ser1350Tyr) | |
| 6 | g.7583108C= | CA1608607258 | DSP | c.4517C= (p.Ser1506=) c.5846C= (p.Ser1949=) c.4049C= (p.Ser1350=) | |
| 6 | g.7583108C>G | CA362689538 | DSP | c.4517C>G (p.Ser1506Cys) c.5846C>G (p.Ser1949Cys) c.4049C>G (p.Ser1350Cys) | |
| 6 | g.7583108C>T | CA16605158 | DSP | c.4517C>T (p.Ser1506Phe) c.5846C>T (p.Ser1949Phe) c.4049C>T (p.Ser1350Phe) | ClinVar dbSNP COSMIC |
| 6 | g.7583109C>A | CA133972561 | DSP | c.4518C>A (p.Ser1506=) c.5847C>A (p.Ser1949=) c.4050C>A (p.Ser1350=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583109C= | CA1608607276 | DSP | c.4518C= (p.Ser1506=) c.5847C= (p.Ser1949=) c.4050C= (p.Ser1350=) | |
| 6 | g.7583109C>G | CA448715651 | DSP | c.4518C>G (p.Ser1506=) c.5847C>G (p.Ser1949=) c.4050C>G (p.Ser1350=) | |
| 6 | g.7583109C>T | CA448715653 | DSP | c.4518C>T (p.Ser1506=) c.5847C>T (p.Ser1949=) c.4050C>T (p.Ser1350=) | |
| 6 | g.7583110C>A | CA362689540 | DSP | c.4519C>A (p.His1507Asn) c.5848C>A (p.His1950Asn) c.4051C>A (p.His1351Asn) | |
| 6 | g.7583110C>G | CA362689542 | DSP | c.4519C>G (p.His1507Asp) c.5848C>G (p.His1950Asp) c.4051C>G (p.His1351Asp) | |
| 6 | g.7583110C>T | CA362689541 | DSP | c.4519C>T (p.His1507Tyr) c.5848C>T (p.His1950Tyr) c.4051C>T (p.His1351Tyr) | |
| 6 | g.7583111A>C | CA362689543 | DSP | c.4520A>C (p.His1507Pro) c.5849A>C (p.His1950Pro) c.4052A>C (p.His1351Pro) | |
| 6 | g.7583111A>G | CA362689544 | DSP | c.4520A>G (p.His1507Arg) c.5849A>G (p.His1950Arg) c.4052A>G (p.His1351Arg) | gnomAD v4 |
| 6 | g.7583111A>T | CA362689545 | DSP | c.4520A>T (p.His1507Leu) c.5849A>T (p.His1950Leu) c.4052A>T (p.His1351Leu) | |
| 6 | g.7583112T>A | CA362689546 | DSP | c.4521T>A (p.His1507Gln) c.5850T>A (p.His1950Gln) c.4053T>A (p.His1351Gln) | |
| 6 | g.7583112T>C | CA448715655 | DSP | c.4521T>C (p.His1507=) c.5850T>C (p.His1950=) c.4053T>C (p.His1351=) | |
| 6 | g.7583112T>G | CA362689547 | DSP | c.4521T>G (p.His1507Gln) c.5850T>G (p.His1950Gln) c.4053T>G (p.His1351Gln) | |
| 6 | g.7583112_7583113delinsAT | CA2573140811 | DSP | c.4521_4522delinsAT (p.His1507GlnfsTer2) c.5850_5851delinsAT (p.His1950GlnfsTer2) c.4053_4054delinsAT (p.His1351GlnfsTer2) | ClinVar dbSNP |
| 6 | g.7583113C>A | CA448715656 | DSP | c.4522C>A (p.Arg1508=) c.5851C>A (p.Arg1951=) c.4054C>A (p.Arg1352=) | |
| 6 | g.7583113C= | CA1608607285 | DSP | c.4522C= (p.Arg1508=) c.5851C= (p.Arg1951=) c.4054C= (p.Arg1352=) | |
| 6 | g.7583113C>G | CA362689548 | DSP | c.4522C>G (p.Arg1508Gly) c.5851C>G (p.Arg1951Gly) c.4054C>G (p.Arg1352Gly) | ClinVar dbSNP |
| 6 | g.7583113C>T | CA353961 | DSP | c.4522C>T (p.Arg1508Ter) c.5851C>T (p.Arg1951Ter) c.4054C>T (p.Arg1352Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583114G>A | CA362689549 | DSP | c.4523G>A (p.Arg1508Gln) c.5852G>A (p.Arg1951Gln) c.4055G>A (p.Arg1352Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583114G>C | CA362689550 | DSP | c.4523G>C (p.Arg1508Pro) c.5852G>C (p.Arg1951Pro) c.4055G>C (p.Arg1352Pro) | gnomAD v4 |
| 6 | g.7583114G= | CA1608607292 | DSP | c.4523G= (p.Arg1508=) c.5852G= (p.Arg1951=) c.4055G= (p.Arg1352=) | |
| 6 | g.7583114G>T | CA362689551 | DSP | c.4523G>T (p.Arg1508Leu) c.5852G>T (p.Arg1951Leu) c.4055G>T (p.Arg1352Leu) | |
| 6 | g.7583118_7583119del | CA2710966108 | DSP | c.4527_4528del (p.Glu1509AspfsTer4) c.5856_5857del (p.Glu1952AspfsTer4) c.4059_4060del (p.Glu1353AspfsTer4) | dbSNP |
| 6 | g.7583115A>C | CA448715661 | DSP | c.4524A>C (p.Arg1508=) c.5853A>C (p.Arg1951=) c.4056A>C (p.Arg1352=) | |
| 6 | g.7583115A>G | CA448715660 | DSP | c.4524A>G (p.Arg1508=) c.5853A>G (p.Arg1951=) c.4056A>G (p.Arg1352=) | |
| 6 | g.7583115A>T | CA448715658 | DSP | c.4524A>T (p.Arg1508=) c.5853A>T (p.Arg1951=) c.4056A>T (p.Arg1352=) | |
| 6 | g.7583116G>A | CA362689554 | DSP | c.4525G>A (p.Glu1509Lys) c.5854G>A (p.Glu1952Lys) c.4057G>A (p.Glu1353Lys) | |
| 6 | g.7583116G>C | CA362689553 | DSP | c.4525G>C (p.Glu1509Gln) c.5854G>C (p.Glu1952Gln) c.4057G>C (p.Glu1353Gln) | |
| 6 | g.7583116G>T | CA362689552 | DSP | c.4525G>T (p.Glu1509Ter) c.5854G>T (p.Glu1952Ter) c.4057G>T (p.Glu1353Ter) | |
| 6 | g.7583116_7583117delinsGA | CA1608607299 | DSP | c.4525_4526delinsGA (p.Glu1509=) c.5854_5855delinsGA (p.Glu1952=) c.4057_4058delinsGA (p.Glu1353=) | |
| 6 | g.7583117del | CA1139659418 | DSP | c.4526del (p.Glu1509GlyfsTer20) c.5855del (p.Glu1952GlyfsTer20) c.4058del (p.Glu1353GlyfsTer20) | ClinVar dbSNP |
| 6 | g.7583117A>C | CA362689555 | DSP | c.4526A>C (p.Glu1509Ala) c.5855A>C (p.Glu1952Ala) c.4058A>C (p.Glu1353Ala) | |
| 6 | g.7583117A>G | CA362689556 | DSP | c.4526A>G (p.Glu1509Gly) c.5855A>G (p.Glu1952Gly) c.4058A>G (p.Glu1353Gly) | |
| 6 | g.7583117A>T | CA362689557 | DSP | c.4526A>T (p.Glu1509Val) c.5855A>T (p.Glu1952Val) c.4058A>T (p.Glu1353Val) | |
| 6 | g.7583118G>A | CA448715662 | DSP | c.4527G>A (p.Glu1509=) c.5856G>A (p.Glu1952=) c.4059G>A (p.Glu1353=) | |
| 6 | g.7583118G>C | CA362689558 | DSP | c.4527G>C (p.Glu1509Asp) c.5856G>C (p.Glu1952Asp) c.4059G>C (p.Glu1353Asp) | |
| 6 | g.7583118G>T | CA362689559 | DSP | c.4527G>T (p.Glu1509Asp) c.5856G>T (p.Glu1952Asp) c.4059G>T (p.Glu1353Asp) | gnomAD v4 |
| 6 | g.7583122_7583142del | CA2677235160 | DSP | c.4531_4551del (p.Gln1511_Thr1517del) c.5860_5880del (p.Gln1954_Thr1960del) c.4063_4083del (p.Gln1355_Thr1361del) | gnomAD v4 |
| 6 | g.7583119A>C | CA362689560 | DSP | c.4528A>C (p.Thr1510Pro) c.5857A>C (p.Thr1953Pro) c.4060A>C (p.Thr1354Pro) | |
| 6 | g.7583119A>G | CA362689561 | DSP | c.4528A>G (p.Thr1510Ala) c.5857A>G (p.Thr1953Ala) c.4060A>G (p.Thr1354Ala) | |
| 6 | g.7583119A>T | CA362689562 | DSP | c.4528A>T (p.Thr1510Ser) c.5857A>T (p.Thr1953Ser) c.4060A>T (p.Thr1354Ser) | |
| 6 | g.7583120C>A | CA362689563 | DSP | c.4529C>A (p.Thr1510Asn) c.5858C>A (p.Thr1953Asn) c.4061C>A (p.Thr1354Asn) | |
| 6 | g.7583120C>G | CA362689564 | DSP | c.4529C>G (p.Thr1510Ser) c.5858C>G (p.Thr1953Ser) c.4061C>G (p.Thr1354Ser) | |
| 6 | g.7583120C>T | CA362689565 | DSP | c.4529C>T (p.Thr1510Ile) c.5858C>T (p.Thr1953Ile) c.4061C>T (p.Thr1354Ile) | |
| 6 | g.7583121C>A | CA448715666 | DSP | c.4530C>A (p.Thr1510=) c.5859C>A (p.Thr1953=) c.4062C>A (p.Thr1354=) | COSMIC |
| 6 | g.7583121C= | CA1608607311 | DSP | c.4530C= (p.Thr1510=) c.5859C= (p.Thr1953=) c.4062C= (p.Thr1354=) | |
| 6 | g.7583121C>G | CA045924 | DSP | c.4530C>G (p.Thr1510=) c.5859C>G (p.Thr1953=) c.4062C>G (p.Thr1354=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7583121C>T | CA448715667 | DSP | c.4530C>T (p.Thr1510=) c.5859C>T (p.Thr1953=) c.4062C>T (p.Thr1354=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583122C>A | CA362689567 | DSP | c.4531C>A (p.Gln1511Lys) c.5860C>A (p.Gln1954Lys) c.4063C>A (p.Gln1355Lys) | |
| 6 | g.7583122C>G | CA362689568 | DSP | c.4531C>G (p.Gln1511Glu) c.5860C>G (p.Gln1954Glu) c.4063C>G (p.Gln1355Glu) | |
| 6 | g.7583122C>T | CA362689566 | DSP | c.4531C>T (p.Gln1511Ter) c.5860C>T (p.Gln1954Ter) c.4063C>T (p.Gln1355Ter) | |
| 6 | g.7583123A>C | CA362689569 | DSP | c.4532A>C (p.Gln1511Pro) c.5861A>C (p.Gln1954Pro) c.4064A>C (p.Gln1355Pro) | gnomAD v4 |
| 6 | g.7583123A>G | CA362689570 | DSP | c.4532A>G (p.Gln1511Arg) c.5861A>G (p.Gln1954Arg) c.4064A>G (p.Gln1355Arg) | |
| 6 | g.7583123A>T | CA362689571 | DSP | c.4532A>T (p.Gln1511Leu) c.5861A>T (p.Gln1954Leu) c.4064A>T (p.Gln1355Leu) | |
| 6 | g.7583124G>A | CA448715668 | DSP | c.4533G>A (p.Gln1511=) c.5862G>A (p.Gln1954=) c.4065G>A (p.Gln1355=) | |
| 6 | g.7583124G>C | CA362689572 | DSP | c.4533G>C (p.Gln1511His) c.5862G>C (p.Gln1954His) c.4065G>C (p.Gln1355His) | dbSNP gnomAD v4 |
| 6 | g.7583124G= | CA1608607314 | DSP | c.4533G= (p.Gln1511=) c.5862G= (p.Gln1954=) c.4065G= (p.Gln1355=) | |
| 6 | g.7583124G>T | CA362689573 | DSP | c.4533G>T (p.Gln1511His) c.5862G>T (p.Gln1954His) c.4065G>T (p.Gln1355His) | gnomAD v4 |
| 6 | g.7583125A>C | CA362689576 | DSP | c.4534A>C (p.Thr1512Pro) c.5863A>C (p.Thr1955Pro) c.4066A>C (p.Thr1356Pro) | |
| 6 | g.7583125A>G | CA362689575 | DSP | c.4534A>G (p.Thr1512Ala) c.5863A>G (p.Thr1955Ala) c.4066A>G (p.Thr1356Ala) | |
| 6 | g.7583125A>T | CA362689574 | DSP | c.4534A>T (p.Thr1512Ser) c.5863A>T (p.Thr1955Ser) c.4066A>T (p.Thr1356Ser) | |
| 6 | g.7583126C>A | CA362689577 | DSP | c.4535C>A (p.Thr1512Asn) c.5864C>A (p.Thr1955Asn) c.4067C>A (p.Thr1356Asn) | |
| 6 | g.7583126C= | CA1608607318 | DSP | c.4535C= (p.Thr1512=) c.5864C= (p.Thr1955=) c.4067C= (p.Thr1356=) | |
| 6 | g.7583126C>G | CA362689578 | DSP | c.4535C>G (p.Thr1512Ser) c.5864C>G (p.Thr1955Ser) c.4067C>G (p.Thr1356Ser) | |
| 6 | g.7583126C>T | CA045944 | DSP | c.4535C>T (p.Thr1512Ile) c.5864C>T (p.Thr1955Ile) c.4067C>T (p.Thr1356Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583127T>A | CA448715670 | DSP | c.4536T>A (p.Thr1512=) c.5865T>A (p.Thr1955=) c.4068T>A (p.Thr1356=) | |
| 6 | g.7583127T>C | CA448715671 | DSP | c.4536T>C (p.Thr1512=) c.5865T>C (p.Thr1955=) c.4068T>C (p.Thr1356=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583127T>G | CA448715672 | DSP | c.4536T>G (p.Thr1512=) c.5865T>G (p.Thr1955=) c.4068T>G (p.Thr1356=) | |
| 6 | g.7583127T= | CA1608607325 | DSP | c.4536T= (p.Thr1512=) c.5865T= (p.Thr1955=) c.4068T= (p.Thr1356=) | |
| 6 | g.7583128G>A | CA362689579 | DSP | c.4537G>A (p.Glu1513Lys) c.5866G>A (p.Glu1956Lys) c.4069G>A (p.Glu1357Lys) | ClinVar dbSNP |
| 6 | g.7583128G>C | CA362689580 | DSP | c.4537G>C (p.Glu1513Gln) c.5866G>C (p.Glu1956Gln) c.4069G>C (p.Glu1357Gln) | |
| 6 | g.7583128G= | CA1608607332 | DSP | c.4537G= (p.Glu1513=) c.5866G= (p.Glu1956=) c.4069G= (p.Glu1357=) | |
| 6 | g.7583128G>T | CA362689581 | DSP | c.4537G>T (p.Glu1513Ter) c.5866G>T (p.Glu1956Ter) c.4069G>T (p.Glu1357Ter) | |
| 6 | g.7583129A>C | CA362689582 | DSP | c.4538A>C (p.Glu1513Ala) c.5867A>C (p.Glu1956Ala) c.4070A>C (p.Glu1357Ala) | |
| 6 | g.7583129A>G | CA362689584 | DSP | c.4538A>G (p.Glu1513Gly) c.5867A>G (p.Glu1956Gly) c.4070A>G (p.Glu1357Gly) | |
| 6 | g.7583129A>T | CA362689583 | DSP | c.4538A>T (p.Glu1513Val) c.5867A>T (p.Glu1956Val) c.4070A>T (p.Glu1357Val) | |
| 6 | g.7583130G>A | CA448715674 | DSP | c.4539G>A (p.Glu1513=) c.5868G>A (p.Glu1956=) c.4071G>A (p.Glu1357=) | |
| 6 | g.7583130G>C | CA362689585 | DSP | c.4539G>C (p.Glu1513Asp) c.5868G>C (p.Glu1956Asp) c.4071G>C (p.Glu1357Asp) | dbSNP |
| 6 | g.7583130G>T | CA362689586 | DSP | c.4539G>T (p.Glu1513Asp) c.5868G>T (p.Glu1956Asp) c.4071G>T (p.Glu1357Asp) | |
| 6 | g.7583131T>A | CA362689587 | DSP | c.4540T>A (p.Cys1514Ser) c.5869T>A (p.Cys1957Ser) c.4072T>A (p.Cys1358Ser) | gnomAD v3 gnomAD v4 |
| 6 | g.7583131T>C | CA362689588 | DSP | c.4540T>C (p.Cys1514Arg) c.5869T>C (p.Cys1957Arg) c.4072T>C (p.Cys1358Arg) | ClinVar dbSNP |
| 6 | g.7583131T>G | CA362689589 | DSP | c.4540T>G (p.Cys1514Gly) c.5869T>G (p.Cys1957Gly) c.4072T>G (p.Cys1358Gly) | |
| 6 | g.7583132G>A | CA362689590 | DSP | c.4541G>A (p.Cys1514Tyr) c.5870G>A (p.Cys1957Tyr) c.4073G>A (p.Cys1358Tyr) | |
| 6 | g.7583132G>C | CA362689591 | DSP | c.4541G>C (p.Cys1514Ser) c.5870G>C (p.Cys1957Ser) c.4073G>C (p.Cys1358Ser) | |
| 6 | g.7583132G>T | CA362689592 | DSP | c.4541G>T (p.Cys1514Phe) c.5870G>T (p.Cys1957Phe) c.4073G>T (p.Cys1358Phe) | |
| 6 | g.7583133T>A | CA362689593 | DSP | c.4542T>A (p.Cys1514Ter) c.5871T>A (p.Cys1957Ter) c.4074T>A (p.Cys1358Ter) | |
| 6 | g.7583133T>C | CA448715677 | DSP | c.4542T>C (p.Cys1514=) c.5871T>C (p.Cys1957=) c.4074T>C (p.Cys1358=) | |
| 6 | g.7583133T>G | CA362689594 | DSP | c.4542T>G (p.Cys1514Trp) c.5871T>G (p.Cys1957Trp) c.4074T>G (p.Cys1358Trp) | |
| 6 | g.7583134G>A | CA362689595 | DSP | c.4543G>A (p.Glu1515Lys) c.5872G>A (p.Glu1958Lys) c.4075G>A (p.Glu1359Lys) | |
| 6 | g.7583134G>C | CA362689596 | DSP | c.4543G>C (p.Glu1515Gln) c.5872G>C (p.Glu1958Gln) c.4075G>C (p.Glu1359Gln) | dbSNP gnomAD v4 |
| 6 | g.7583134G= | CA1608607338 | DSP | c.4543G= (p.Glu1515=) c.5872G= (p.Glu1958=) c.4075G= (p.Glu1359=) | |
| 6 | g.7583134G>T | CA362689597 | DSP | c.4543G>T (p.Glu1515Ter) c.5872G>T (p.Glu1958Ter) c.4075G>T (p.Glu1359Ter) | |
| 6 | g.7583135A>C | CA362689599 | DSP | c.4544A>C (p.Glu1515Ala) c.5873A>C (p.Glu1958Ala) c.4076A>C (p.Glu1359Ala) | |
| 6 | g.7583135A>G | CA362689600 | DSP | c.4544A>G (p.Glu1515Gly) c.5873A>G (p.Glu1958Gly) c.4076A>G (p.Glu1359Gly) | |
| 6 | g.7583135A>T | CA362689598 | DSP | c.4544A>T (p.Glu1515Val) c.5873A>T (p.Glu1958Val) c.4076A>T (p.Glu1359Val) | |
| 6 | g.7583136G>A | CA448715681 | DSP | c.4545G>A (p.Glu1515=) c.5874G>A (p.Glu1958=) c.4077G>A (p.Glu1359=) | |
| 6 | g.7583136G>C | CA362689601 | DSP | c.4545G>C (p.Glu1515Asp) c.5874G>C (p.Glu1958Asp) c.4077G>C (p.Glu1359Asp) | ClinVar |
| 6 | g.7583136G>T | CA362689602 | DSP | c.4545G>T (p.Glu1515Asp) c.5874G>T (p.Glu1958Asp) c.4077G>T (p.Glu1359Asp) | |
| 6 | g.7583137T>A | CA362689603 | DSP | c.4546T>A (p.Trp1516Arg) c.5875T>A (p.Trp1959Arg) c.4078T>A (p.Trp1360Arg) | |
| 6 | g.7583137T>C | CA362689605 | DSP | c.4546T>C (p.Trp1516Arg) c.5875T>C (p.Trp1959Arg) c.4078T>C (p.Trp1360Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583137T>G | CA362689604 | DSP | c.4546T>G (p.Trp1516Gly) c.5875T>G (p.Trp1959Gly) c.4078T>G (p.Trp1360Gly) | |
| 6 | g.7583137T= | CA1608607342 | DSP | c.4546T= (p.Trp1516=) c.5875T= (p.Trp1959=) c.4078T= (p.Trp1360=) | |
| 6 | g.7583138G>A | CA362689606 | DSP | c.4547G>A (p.Trp1516Ter) c.5876G>A (p.Trp1959Ter) c.4079G>A (p.Trp1360Ter) | |
| 6 | g.7583138G>C | CA362689607 | DSP | c.4547G>C (p.Trp1516Ser) c.5876G>C (p.Trp1959Ser) c.4079G>C (p.Trp1360Ser) | |
| 6 | g.7583138G>T | CA362689608 | DSP | c.4547G>T (p.Trp1516Leu) c.5876G>T (p.Trp1959Leu) c.4079G>T (p.Trp1360Leu) | |
| 6 | g.7583139G>A | CA133972604 | DSP | c.4548G>A (p.Trp1516Ter) c.5877G>A (p.Trp1959Ter) c.4080G>A (p.Trp1360Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583139G>C | CA362689609 | DSP | c.4548G>C (p.Trp1516Cys) c.5877G>C (p.Trp1959Cys) c.4080G>C (p.Trp1360Cys) | |
| 6 | g.7583139G= | CA1608607345 | DSP | c.4548G= (p.Trp1516=) c.5877G= (p.Trp1959=) c.4080G= (p.Trp1360=) | |
| 6 | g.7583139G>T | CA362689610 | DSP | c.4548G>T (p.Trp1516Cys) c.5877G>T (p.Trp1959Cys) c.4080G>T (p.Trp1360Cys) | |
| 6 | g.7583140A= | CA1608607350 | DSP | c.4549A= (p.Thr1517=) c.5878A= (p.Thr1960=) c.4081A= (p.Thr1361=) | |
| 6 | g.7583140A>C | CA362689611 | DSP | c.4549A>C (p.Thr1517Pro) c.5878A>C (p.Thr1960Pro) c.4081A>C (p.Thr1361Pro) | dbSNP gnomAD v4 |
| 6 | g.7583140A>G | CA362689612 | DSP | c.4549A>G (p.Thr1517Ala) c.5878A>G (p.Thr1960Ala) c.4081A>G (p.Thr1361Ala) | |
| 6 | g.7583140A>T | CA362689613 | DSP | c.4549A>T (p.Thr1517Ser) c.5878A>T (p.Thr1960Ser) c.4081A>T (p.Thr1361Ser) | |
| 6 | g.7583141C>A | CA362689614 | DSP | c.4550C>A (p.Thr1517Asn) c.5879C>A (p.Thr1960Asn) c.4082C>A (p.Thr1361Asn) | |
| 6 | g.7583141C= | CA1608607356 | DSP | c.4550C= (p.Thr1517=) c.5879C= (p.Thr1960=) c.4082C= (p.Thr1361=) | |
| 6 | g.7583141C>G | CA362689615 | DSP | c.4550C>G (p.Thr1517Ser) c.5879C>G (p.Thr1960Ser) c.4082C>G (p.Thr1361Ser) | |
| 6 | g.7583141C>T | CA362689616 | DSP | c.4550C>T (p.Thr1517Ile) c.5879C>T (p.Thr1960Ile) c.4082C>T (p.Thr1361Ile) | dbSNP |
| 6 | g.7583142C>A | CA448715685 | DSP | c.4551C>A (p.Thr1517=) c.5880C>A (p.Thr1960=) c.4083C>A (p.Thr1361=) | |
| 6 | g.7583142C= | CA1608607360 | DSP | c.4551C= (p.Thr1517=) c.5880C= (p.Thr1960=) c.4083C= (p.Thr1361=) | |
| 6 | g.7583142C>G | CA448715686 | DSP | c.4551C>G (p.Thr1517=) c.5880C>G (p.Thr1960=) c.4083C>G (p.Thr1361=) | |
| 6 | g.7583142C>T | CA045967 | DSP | c.4551C>T (p.Thr1517=) c.5880C>T (p.Thr1960=) c.4083C>T (p.Thr1361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583143G>A | CA006646 | DSP | c.4552G>A (p.Val1518Ile) c.5881G>A (p.Val1961Ile) c.4084G>A (p.Val1362Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583143G>C | CA362689618 | DSP | c.4552G>C (p.Val1518Leu) c.5881G>C (p.Val1961Leu) c.4084G>C (p.Val1362Leu) | gnomAD v4 |
| 6 | g.7583143G= | CA1608607371 | DSP | c.4552G= (p.Val1518=) c.5881G= (p.Val1961=) c.4084G= (p.Val1362=) | |
| 6 | g.7583143G>T | CA362689617 | DSP | c.4552G>T (p.Val1518Phe) c.5881G>T (p.Val1961Phe) c.4084G>T (p.Val1362Phe) | |
| 6 | g.7583144T>A | CA362689619 | DSP | c.4553T>A (p.Val1518Asp) c.5882T>A (p.Val1961Asp) c.4085T>A (p.Val1362Asp) | |
| 6 | g.7583144T>C | CA362689620 | DSP | c.4553T>C (p.Val1518Ala) c.5882T>C (p.Val1961Ala) c.4085T>C (p.Val1362Ala) | gnomAD v4 |
| 6 | g.7583144T>G | CA045992 | DSP | c.4553T>G (p.Val1518Gly) c.5882T>G (p.Val1961Gly) c.4085T>G (p.Val1362Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583144T= | CA1608607378 | DSP | c.4553T= (p.Val1518=) c.5882T= (p.Val1961=) c.4085T= (p.Val1362=) | |
| 6 | g.7583145T>A | CA448715690 | DSP | c.4554T>A (p.Val1518=) c.5883T>A (p.Val1961=) c.4086T>A (p.Val1362=) | |
| 6 | g.7583145T>C | CA448715691 | DSP | c.4554T>C (p.Val1518=) c.5883T>C (p.Val1961=) c.4086T>C (p.Val1362=) | |
| 6 | g.7583145T>G | CA448715692 | DSP | c.4554T>G (p.Val1518=) c.5883T>G (p.Val1961=) c.4086T>G (p.Val1362=) | |
| 6 | g.7583146G>A | CA362689621 | DSP | c.4555G>A (p.Asp1519Asn) c.5884G>A (p.Asp1962Asn) c.4087G>A (p.Asp1363Asn) | |
| 6 | g.7583146G>C | CA362689622 | DSP | c.4555G>C (p.Asp1519His) c.5884G>C (p.Asp1962His) c.4087G>C (p.Asp1363His) | |
| 6 | g.7583146G>T | CA362689623 | DSP | c.4555G>T (p.Asp1519Tyr) c.5884G>T (p.Asp1962Tyr) c.4087G>T (p.Asp1363Tyr) | |
| 6 | g.7583147A>C | CA362689624 | DSP | c.4556A>C (p.Asp1519Ala) c.5885A>C (p.Asp1962Ala) c.4088A>C (p.Asp1363Ala) | |
| 6 | g.7583147A>G | CA362689625 | DSP | c.4556A>G (p.Asp1519Gly) c.5885A>G (p.Asp1962Gly) c.4088A>G (p.Asp1363Gly) | |
| 6 | g.7583147A>T | CA362689626 | DSP | c.4556A>T (p.Asp1519Val) c.5885A>T (p.Asp1962Val) c.4088A>T (p.Asp1363Val) | |
| 6 | g.7583148C>A | CA362689627 | DSP | c.4557C>A (p.Asp1519Glu) c.5886C>A (p.Asp1962Glu) c.4089C>A (p.Asp1363Glu) | |
| 6 | g.7583148C>G | CA362689628 | DSP | c.4557C>G (p.Asp1519Glu) c.5886C>G (p.Asp1962Glu) c.4089C>G (p.Asp1363Glu) | |
| 6 | g.7583148C>T | CA448715693 | DSP | c.4557C>T (p.Asp1519=) c.5886C>T (p.Asp1962=) c.4089C>T (p.Asp1363=) | |
| 6 | g.7583149A= | CA1608607382 | DSP | c.4558A= (p.Thr1520=) c.5887A= (p.Thr1963=) c.4090A= (p.Thr1364=) | |
| 6 | g.7583149A>C | CA362689629 | DSP | c.4558A>C (p.Thr1520Pro) c.5887A>C (p.Thr1963Pro) c.4090A>C (p.Thr1364Pro) | |
| 6 | g.7583149A>G | CA362689630 | DSP | c.4558A>G (p.Thr1520Ala) c.5887A>G (p.Thr1963Ala) c.4090A>G (p.Thr1364Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583149A>T | CA362689631 | DSP | c.4558A>T (p.Thr1520Ser) c.5887A>T (p.Thr1963Ser) c.4090A>T (p.Thr1364Ser) | |
| 6 | g.7583149dup | CA2573140812 | DSP | c.4558dup (p.Thr1520AsnfsTer7) c.5887dup (p.Thr1963AsnfsTer7) c.4090dup (p.Thr1364AsnfsTer7) | ClinVar dbSNP |
| 6 | g.7583150C>A | CA362689634 | DSP | c.4559C>A (p.Thr1520Asn) c.5888C>A (p.Thr1963Asn) c.4091C>A (p.Thr1364Asn) | |
| 6 | g.7583150C= | CA1608607385 | DSP | c.4559C= (p.Thr1520=) c.5888C= (p.Thr1963=) c.4091C= (p.Thr1364=) | |
| 6 | g.7583150C>G | CA362689633 | DSP | c.4559C>G (p.Thr1520Ser) c.5888C>G (p.Thr1963Ser) c.4091C>G (p.Thr1364Ser) | |
| 6 | g.7583150C>T | CA362689632 | DSP | c.4559C>T (p.Thr1520Ile) c.5888C>T (p.Thr1963Ile) c.4091C>T (p.Thr1364Ile) | dbSNP gnomAD v4 |
| 6 | g.7583151C>A | CA448715696 | DSP | c.4560C>A (p.Thr1520=) c.5889C>A (p.Thr1963=) c.4092C>A (p.Thr1364=) | |
| 6 | g.7583151C>G | CA448715697 | DSP | c.4560C>G (p.Thr1520=) c.5889C>G (p.Thr1963=) c.4092C>G (p.Thr1364=) | |
| 6 | g.7583151C>T | CA448715698 | DSP | c.4560C>T (p.Thr1520=) c.5889C>T (p.Thr1963=) c.4092C>T (p.Thr1364=) | |
| 6 | g.7583152T>A | CA362689635 | DSP | c.4561T>A (p.Ser1521Thr) c.5890T>A (p.Ser1964Thr) c.4093T>A (p.Ser1365Thr) | |
| 6 | g.7583152T>C | CA362689636 | DSP | c.4561T>C (p.Ser1521Pro) c.5890T>C (p.Ser1964Pro) c.4093T>C (p.Ser1365Pro) | |
| 6 | g.7583152T>G | CA362689637 | DSP | c.4561T>G (p.Ser1521Ala) c.5890T>G (p.Ser1964Ala) c.4093T>G (p.Ser1365Ala) | |
| 6 | g.7583153C>A | CA362689638 | DSP | c.4562C>A (p.Ser1521Tyr) c.5891C>A (p.Ser1964Tyr) c.4094C>A (p.Ser1365Tyr) | |
| 6 | g.7583153C>G | CA362689639 | DSP | c.4562C>G (p.Ser1521Cys) c.5891C>G (p.Ser1964Cys) c.4094C>G (p.Ser1365Cys) | |
| 6 | g.7583153C>T | CA362689640 | DSP | c.4562C>T (p.Ser1521Phe) c.5891C>T (p.Ser1964Phe) c.4094C>T (p.Ser1365Phe) | |
| 6 | g.7583154C>A | CA448715699 | DSP | c.4563C>A (p.Ser1521=) c.5892C>A (p.Ser1964=) c.4095C>A (p.Ser1365=) | |
| 6 | g.7583154C>G | CA448715701 | DSP | c.4563C>G (p.Ser1521=) c.5892C>G (p.Ser1964=) c.4095C>G (p.Ser1365=) | |
| 6 | g.7583154C>T | CA448715703 | DSP | c.4563C>T (p.Ser1521=) c.5892C>T (p.Ser1964=) c.4095C>T (p.Ser1365=) | ClinVar |
| 6 | g.7583155A>C | CA362689641 | DSP | c.4564A>C (p.Lys1522Gln) c.5893A>C (p.Lys1965Gln) c.4096A>C (p.Lys1366Gln) | |
| 6 | g.7583155A>G | CA362689642 | DSP | c.4564A>G (p.Lys1522Glu) c.5893A>G (p.Lys1965Glu) c.4096A>G (p.Lys1366Glu) | |
| 6 | g.7583155A>T | CA362689643 | DSP | c.4564A>T (p.Lys1522Ter) c.5893A>T (p.Lys1965Ter) c.4096A>T (p.Lys1366Ter) | |
| 6 | g.7583156A= | CA1608607392 | DSP | c.4565A= (p.Lys1522=) c.5894A= (p.Lys1965=) c.4097A= (p.Lys1366=) | |
| 6 | g.7583156A>C | CA362689644 | DSP | c.4565A>C (p.Lys1522Thr) c.5894A>C (p.Lys1965Thr) c.4097A>C (p.Lys1366Thr) | |
| 6 | g.7583156A>G | CA362689645 | DSP | c.4565A>G (p.Lys1522Arg) c.5894A>G (p.Lys1965Arg) c.4097A>G (p.Lys1366Arg) | ClinVar dbSNP |
| 6 | g.7583156A>T | CA362689646 | DSP | c.4565A>T (p.Lys1522Met) c.5894A>T (p.Lys1965Met) c.4097A>T (p.Lys1366Met) | |
| 6 | g.7583157G>A | CA448715704 | DSP | c.4566G>A (p.Lys1522=) c.5895G>A (p.Lys1965=) c.4098G>A (p.Lys1366=) | |
| 6 | g.7583157G>C | CA362689647 | DSP | c.4566G>C (p.Lys1522Asn) c.5895G>C (p.Lys1965Asn) c.4098G>C (p.Lys1366Asn) | |
| 6 | g.7583157G>T | CA362689648 | DSP | c.4566G>T (p.Lys1522Asn) c.5895G>T (p.Lys1965Asn) c.4098G>T (p.Lys1366Asn) | gnomAD v4 |
| 6 | g.7583158C>A | CA362689649 | DSP | c.4567C>A (p.Leu1523Met) c.5896C>A (p.Leu1966Met) c.4099C>A (p.Leu1367Met) | |
| 6 | g.7583158C= | CA1608607396 | DSP | c.4567C= (p.Leu1523=) c.5896C= (p.Leu1966=) c.4099C= (p.Leu1367=) | |
| 6 | g.7583158C>G | CA362689650 | DSP | c.4567C>G (p.Leu1523Val) c.5896C>G (p.Leu1966Val) c.4099C>G (p.Leu1367Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583158C>T | CA448715705 | DSP | c.4567C>T (p.Leu1523=) c.5896C>T (p.Leu1966=) c.4099C>T (p.Leu1367=) | |
| 6 | g.7583159T>A | CA362689651 | DSP | c.4568T>A (p.Leu1523Gln) c.5897T>A (p.Leu1966Gln) c.4100T>A (p.Leu1367Gln) | |
| 6 | g.7583159T>C | CA362689652 | DSP | c.4568T>C (p.Leu1523Pro) c.5897T>C (p.Leu1966Pro) c.4100T>C (p.Leu1367Pro) | |
| 6 | g.7583159T>G | CA362689653 | DSP | c.4568T>G (p.Leu1523Arg) c.5897T>G (p.Leu1966Arg) c.4100T>G (p.Leu1367Arg) | |
| 6 | g.7583160G>A | CA133972647 | DSP | c.4569G>A (p.Leu1523=) c.5898G>A (p.Leu1966=) c.4101G>A (p.Leu1367=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583160G>C | CA448715709 | DSP | c.4569G>C (p.Leu1523=) c.5898G>C (p.Leu1966=) c.4101G>C (p.Leu1367=) | |
| 6 | g.7583160G= | CA1608607398 | DSP | c.4569G= (p.Leu1523=) c.5898G= (p.Leu1966=) c.4101G= (p.Leu1367=) | |
| 6 | g.7583160G>T | CA448715710 | DSP | c.4569G>T (p.Leu1523=) c.5898G>T (p.Leu1966=) c.4101G>T (p.Leu1367=) | |
| 6 | g.7583161G>A | CA006654 | DSP | c.4570G>A (p.Val1524Met) c.5899G>A (p.Val1967Met) c.4102G>A (p.Val1368Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583161G>C | CA362689654 | DSP | c.4570G>C (p.Val1524Leu) c.5899G>C (p.Val1967Leu) c.4102G>C (p.Val1368Leu) | |
| 6 | g.7583161G= | CA1608607404 | DSP | c.4570G= (p.Val1524=) c.5899G= (p.Val1967=) c.4102G= (p.Val1368=) | |
| 6 | g.7583161G>T | CA362689655 | DSP | c.4570G>T (p.Val1524Leu) c.5899G>T (p.Val1967Leu) c.4102G>T (p.Val1368Leu) | |
| 6 | g.7583162T>A | CA362689656 | DSP | c.4571T>A (p.Val1524Glu) c.5900T>A (p.Val1967Glu) c.4103T>A (p.Val1368Glu) | |
| 6 | g.7583162T>C | CA362689657 | DSP | c.4571T>C (p.Val1524Ala) c.5900T>C (p.Val1967Ala) c.4103T>C (p.Val1368Ala) | |
| 6 | g.7583162T>G | CA362689658 | DSP | c.4571T>G (p.Val1524Gly) c.5900T>G (p.Val1967Gly) c.4103T>G (p.Val1368Gly) | |
| 6 | g.7583163G>A | CA448715712 | DSP | c.4572G>A (p.Val1524=) c.5901G>A (p.Val1967=) c.4104G>A (p.Val1368=) | |
| 6 | g.7583163G>C | CA448715713 | DSP | c.4572G>C (p.Val1524=) c.5901G>C (p.Val1967=) c.4104G>C (p.Val1368=) | |
| 6 | g.7583163G>T | CA448715711 | DSP | c.4572G>T (p.Val1524=) c.5901G>T (p.Val1967=) c.4104G>T (p.Val1368=) | ClinVar dbSNP |
| 6 | g.7583164T>A | CA362689659 | DSP | c.4573T>A (p.Phe1525Ile) c.5902T>A (p.Phe1968Ile) c.4105T>A (p.Phe1369Ile) | |
| 6 | g.7583164T>C | CA362689660 | DSP | c.4573T>C (p.Phe1525Leu) c.5902T>C (p.Phe1968Leu) c.4105T>C (p.Phe1369Leu) | |
| 6 | g.7583164T>G | CA362689661 | DSP | c.4573T>G (p.Phe1525Val) c.5902T>G (p.Phe1968Val) c.4105T>G (p.Phe1369Val) | |
| 6 | g.7583165T>A | CA362689662 | DSP | c.4574T>A (p.Phe1525Tyr) c.5903T>A (p.Phe1968Tyr) c.4106T>A (p.Phe1369Tyr) | |
| 6 | g.7583165T>C | CA362689664 | DSP | c.4574T>C (p.Phe1525Ser) c.5903T>C (p.Phe1968Ser) c.4106T>C (p.Phe1369Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583165T>G | CA362689663 | DSP | c.4574T>G (p.Phe1525Cys) c.5903T>G (p.Phe1968Cys) c.4106T>G (p.Phe1369Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583165T= | CA1608607416 | DSP | c.4574T= (p.Phe1525=) c.5903T= (p.Phe1968=) c.4106T= (p.Phe1369=) | |
| 6 | g.7583166T>A | CA362689665 | DSP | c.4575T>A (p.Phe1525Leu) c.5904T>A (p.Phe1968Leu) c.4107T>A (p.Phe1369Leu) | |
| 6 | g.7583166T>C | CA046021 | DSP | c.4575T>C (p.Phe1525=) c.5904T>C (p.Phe1968=) c.4107T>C (p.Phe1369=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583166T>G | CA362689666 | DSP | c.4575T>G (p.Phe1525Leu) c.5904T>G (p.Phe1968Leu) c.4107T>G (p.Phe1369Leu) | |
| 6 | g.7583166T= | CA1608607420 | DSP | c.4575T= (p.Phe1525=) c.5904T= (p.Phe1968=) c.4107T= (p.Phe1369=) | |
| 6 | g.7583167G>A | CA362689667 | DSP | c.4576G>A (p.Asp1526Asn) c.5905G>A (p.Asp1969Asn) c.4108G>A (p.Asp1370Asn) | |
| 6 | g.7583167G>C | CA362689668 | DSP | c.4576G>C (p.Asp1526His) c.5905G>C (p.Asp1969His) c.4108G>C (p.Asp1370His) | |
| 6 | g.7583167G>T | CA362689669 | DSP | c.4576G>T (p.Asp1526Tyr) c.5905G>T (p.Asp1969Tyr) c.4108G>T (p.Asp1370Tyr) | |
| 6 | g.7583168A>C | CA362689670 | DSP | c.4577A>C (p.Asp1526Ala) c.5906A>C (p.Asp1969Ala) c.4109A>C (p.Asp1370Ala) | |
| 6 | g.7583168A>G | CA362689671 | DSP | c.4577A>G (p.Asp1526Gly) c.5906A>G (p.Asp1969Gly) c.4109A>G (p.Asp1370Gly) | |
| 6 | g.7583168A>T | CA362689672 | DSP | c.4577A>T (p.Asp1526Val) c.5906A>T (p.Asp1969Val) c.4109A>T (p.Asp1370Val) | |
| 6 | g.7583169T>A | CA362689673 | DSP | c.4578T>A (p.Asp1526Glu) c.5907T>A (p.Asp1969Glu) c.4110T>A (p.Asp1370Glu) | |
| 6 | g.7583169T>C | CA448715716 | DSP | c.4578T>C (p.Asp1526=) c.5907T>C (p.Asp1969=) c.4110T>C (p.Asp1370=) | ClinVar |
| 6 | g.7583169T>G | CA362689674 | DSP | c.4578T>G (p.Asp1526Glu) c.5907T>G (p.Asp1969Glu) c.4110T>G (p.Asp1370Glu) |