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.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583584T>A | CA362690548 | DSP | c.4993T>A (p.Ser1665Thr) c.6322T>A (p.Ser2108Thr) c.4525T>A (p.Ser1509Thr) | |
| 6 | g.7583584T>C | CA362690549 | DSP | c.4993T>C (p.Ser1665Pro) c.6322T>C (p.Ser2108Pro) c.4525T>C (p.Ser1509Pro) | |
| 6 | g.7583584T>G | CA362690550 | DSP | c.4993T>G (p.Ser1665Ala) c.6322T>G (p.Ser2108Ala) c.4525T>G (p.Ser1509Ala) | gnomAD v4 |
| 6 | g.7583585C>A | CA362690551 | DSP | c.4994C>A (p.Ser1665Ter) c.6323C>A (p.Ser2108Ter) c.4526C>A (p.Ser1509Ter) | dbSNP |
| 6 | g.7583585C= | CA1608608578 | DSP | c.4994C= (p.Ser1665=) c.6323C= (p.Ser2108=) c.4526C= (p.Ser1509=) | |
| 6 | g.7583585C>G | CA362690552 | DSP | c.4994C>G (p.Ser1665Ter) c.6323C>G (p.Ser2108Ter) c.4526C>G (p.Ser1509Ter) | gnomAD v4 |
| 6 | g.7583585C>T | CA362690553 | DSP | c.4994C>T (p.Ser1665Leu) c.6323C>T (p.Ser2108Leu) c.4526C>T (p.Ser1509Leu) | |
| 6 | g.7583586A>C | CA448716129 | DSP | c.4995A>C (p.Ser1665=) c.6324A>C (p.Ser2108=) c.4527A>C (p.Ser1509=) | |
| 6 | g.7583586A>G | CA448716130 | DSP | c.4995A>G (p.Ser1665=) c.6324A>G (p.Ser2108=) c.4527A>G (p.Ser1509=) | |
| 6 | g.7583586A>T | CA448716131 | DSP | c.4995A>T (p.Ser1665=) c.6324A>T (p.Ser2108=) c.4527A>T (p.Ser1509=) | |
| 6 | g.7583587G>A | CA006863 | DSP | c.4996G>A (p.Glu1666Lys) c.6325G>A (p.Glu2109Lys) c.4528G>A (p.Glu1510Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583587G>C | CA362690554 | DSP | c.4996G>C (p.Glu1666Gln) c.6325G>C (p.Glu2109Gln) c.4528G>C (p.Glu1510Gln) | |
| 6 | g.7583587G= | CA1608608587 | DSP | c.4996G= (p.Glu1666=) c.6325G= (p.Glu2109=) c.4528G= (p.Glu1510=) | |
| 6 | g.7583587G>T | CA362690555 | DSP | c.4996G>T (p.Glu1666Ter) c.6325G>T (p.Glu2109Ter) c.4528G>T (p.Glu1510Ter) | |
| 6 | g.7583588A>C | CA362690556 | DSP | c.4997A>C (p.Glu1666Ala) c.6326A>C (p.Glu2109Ala) c.4529A>C (p.Glu1510Ala) | |
| 6 | g.7583588A>G | CA362690557 | DSP | c.4997A>G (p.Glu1666Gly) c.6326A>G (p.Glu2109Gly) c.4529A>G (p.Glu1510Gly) | |
| 6 | g.7583588A>T | CA362690558 | DSP | c.4997A>T (p.Glu1666Val) c.6326A>T (p.Glu2109Val) c.4529A>T (p.Glu1510Val) | |
| 6 | g.7583589A>C | CA362690559 | DSP | c.4998A>C (p.Glu1666Asp) c.6327A>C (p.Glu2109Asp) c.4530A>C (p.Glu1510Asp) | gnomAD v4 |
| 6 | g.7583589A>G | CA448716135 | DSP | c.4998A>G (p.Glu1666=) c.6327A>G (p.Glu2109=) c.4530A>G (p.Glu1510=) | |
| 6 | g.7583589A>T | CA362690560 | DSP | c.4998A>T (p.Glu1666Asp) c.6327A>T (p.Glu2109Asp) c.4530A>T (p.Glu1510Asp) | |
| 6 | g.7583590G>A | CA362690561 | DSP | c.4999G>A (p.Ala1667Thr) c.6328G>A (p.Ala2110Thr) c.4531G>A (p.Ala1511Thr) | |
| 6 | g.7583590G>C | CA362690562 | DSP | c.4999G>C (p.Ala1667Pro) c.6328G>C (p.Ala2110Pro) c.4531G>C (p.Ala1511Pro) | gnomAD v4 |
| 6 | g.7583590G>T | CA362690563 | DSP | c.4999G>T (p.Ala1667Ser) c.6328G>T (p.Ala2110Ser) c.4531G>T (p.Ala1511Ser) | ClinVar |
| 6 | g.7583591C>A | CA362690564 | DSP | c.5000C>A (p.Ala1667Asp) c.6329C>A (p.Ala2110Asp) c.4532C>A (p.Ala1511Asp) | |
| 6 | g.7583591C>G | CA362690565 | DSP | c.5000C>G (p.Ala1667Gly) c.6329C>G (p.Ala2110Gly) c.4532C>G (p.Ala1511Gly) | |
| 6 | g.7583591C>T | CA362690566 | DSP | c.5000C>T (p.Ala1667Val) c.6329C>T (p.Ala2110Val) c.4532C>T (p.Ala1511Val) | |
| 6 | g.7583592C>A | CA448716140 | DSP | c.5001C>A (p.Ala1667=) c.6330C>A (p.Ala2110=) c.4533C>A (p.Ala1511=) | |
| 6 | g.7583592C>G | CA448716141 | DSP | c.5001C>G (p.Ala1667=) c.6330C>G (p.Ala2110=) c.4533C>G (p.Ala1511=) | |
| 6 | g.7583592C>T | CA448716142 | DSP | c.5001C>T (p.Ala1667=) c.6330C>T (p.Ala2110=) c.4533C>T (p.Ala1511=) | |
| 6 | g.7583593A>C | CA362690567 | DSP | c.5002A>C (p.Ile1668Leu) c.6331A>C (p.Ile2111Leu) c.4534A>C (p.Ile1512Leu) | |
| 6 | g.7583593A>G | CA362690568 | DSP | c.5002A>G (p.Ile1668Val) c.6331A>G (p.Ile2111Val) c.4534A>G (p.Ile1512Val) | |
| 6 | g.7583593A>T | CA362690569 | DSP | c.5002A>T (p.Ile1668Phe) c.6331A>T (p.Ile2111Phe) c.4534A>T (p.Ile1512Phe) | |
| 6 | g.7583594T>A | CA362690570 | DSP | c.5003T>A (p.Ile1668Asn) c.6332T>A (p.Ile2111Asn) c.4535T>A (p.Ile1512Asn) | gnomAD v4 |
| 6 | g.7583594T>C | CA047335 | DSP | c.5003T>C (p.Ile1668Thr) c.6332T>C (p.Ile2111Thr) c.4535T>C (p.Ile1512Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583594T>G | CA362690571 | DSP | c.5003T>G (p.Ile1668Ser) c.6332T>G (p.Ile2111Ser) c.4535T>G (p.Ile1512Ser) | |
| 6 | g.7583594T= | CA1608608599 | DSP | c.5003T= (p.Ile1668=) c.6332T= (p.Ile2111=) c.4535T= (p.Ile1512=) | |
| 6 | g.7583595C>A | CA448716146 | DSP | c.5004C>A (p.Ile1668=) c.6333C>A (p.Ile2111=) c.4536C>A (p.Ile1512=) | |
| 6 | g.7583595C= | CA1608608607 | DSP | c.5004C= (p.Ile1668=) c.6333C= (p.Ile2111=) c.4536C= (p.Ile1512=) | |
| 6 | g.7583595C>G | CA362690572 | DSP | c.5004C>G (p.Ile1668Met) c.6333C>G (p.Ile2111Met) c.4536C>G (p.Ile1512Met) | dbSNP gnomAD v2 |
| 6 | g.7583595C>T | CA448716148 | DSP | c.5004C>T (p.Ile1668=) c.6333C>T (p.Ile2111=) c.4536C>T (p.Ile1512=) | gnomAD v4 |
| 6 | g.7583596A>C | CA362690573 | DSP | c.5005A>C (p.Lys1669Gln) c.6334A>C (p.Lys2112Gln) c.4537A>C (p.Lys1513Gln) | |
| 6 | g.7583596A>G | CA362690575 | DSP | c.5005A>G (p.Lys1669Glu) c.6334A>G (p.Lys2112Glu) c.4537A>G (p.Lys1513Glu) | gnomAD v4 |
| 6 | g.7583596A>T | CA362690574 | DSP | c.5005A>T (p.Lys1669Ter) c.6334A>T (p.Lys2112Ter) c.4537A>T (p.Lys1513Ter) | |
| 6 | g.7583597A= | CA1608608613 | DSP | c.5006A= (p.Lys1669=) c.6335A= (p.Lys2112=) c.4538A= (p.Lys1513=) | |
| 6 | g.7583597A>C | CA362690576 | DSP | c.5006A>C (p.Lys1669Thr) c.6335A>C (p.Lys2112Thr) c.4538A>C (p.Lys1513Thr) | dbSNP |
| 6 | g.7583597A>G | CA362690577 | DSP | c.5006A>G (p.Lys1669Arg) c.6335A>G (p.Lys2112Arg) c.4538A>G (p.Lys1513Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583597A>T | CA362690578 | DSP | c.5006A>T (p.Lys1669Met) c.6335A>T (p.Lys2112Met) c.4538A>T (p.Lys1513Met) | |
| 6 | g.7583598del | CA2580075543 | DSP | c.5007del (p.Asn1671IlefsTer2) c.6336del (p.Asn2114IlefsTer2) c.4539del (p.Asn1515IlefsTer2) | ClinVar gnomAD v4 |
| 6 | g.7583598G>A | CA448716151 | DSP | c.5007G>A (p.Lys1669=) c.6336G>A (p.Lys2112=) c.4539G>A (p.Lys1513=) | |
| 6 | g.7583598G>C | CA362690579 | DSP | c.5007G>C (p.Lys1669Asn) c.6336G>C (p.Lys2112Asn) c.4539G>C (p.Lys1513Asn) | |
| 6 | g.7583598G>T | CA362690580 | DSP | c.5007G>T (p.Lys1669Asn) c.6336G>T (p.Lys2112Asn) c.4539G>T (p.Lys1513Asn) | |
| 6 | g.7583599A>C | CA362690581 | DSP | c.5008A>C (p.Lys1670Gln) c.6337A>C (p.Lys2113Gln) c.4540A>C (p.Lys1514Gln) | |
| 6 | g.7583599A>G | CA362690582 | DSP | c.5008A>G (p.Lys1670Glu) c.6337A>G (p.Lys2113Glu) c.4540A>G (p.Lys1514Glu) | |
| 6 | g.7583599A>T | CA362690583 | DSP | c.5008A>T (p.Lys1670Ter) c.6337A>T (p.Lys2113Ter) c.4540A>T (p.Lys1514Ter) | |
| 6 | g.7583600A>C | CA362690584 | DSP | c.5009A>C (p.Lys1670Thr) c.6338A>C (p.Lys2113Thr) c.4541A>C (p.Lys1514Thr) | |
| 6 | g.7583600A>G | CA362690585 | DSP | c.5009A>G (p.Lys1670Arg) c.6338A>G (p.Lys2113Arg) c.4541A>G (p.Lys1514Arg) | |
| 6 | g.7583600A>T | CA362690586 | DSP | c.5009A>T (p.Lys1670Ile) c.6338A>T (p.Lys2113Ile) c.4541A>T (p.Lys1514Ile) | |
| 6 | g.7583601A>C | CA362690587 | DSP | c.5010A>C (p.Lys1670Asn) c.6339A>C (p.Lys2113Asn) c.4542A>C (p.Lys1514Asn) | |
| 6 | g.7583601A>G | CA448716163 | DSP | c.5010A>G (p.Lys1670=) c.6339A>G (p.Lys2113=) c.4542A>G (p.Lys1514=) | |
| 6 | g.7583601A>T | CA362690588 | DSP | c.5010A>T (p.Lys1670Asn) c.6339A>T (p.Lys2113Asn) c.4542A>T (p.Lys1514Asn) | |
| 6 | g.7583602A= | CA1608608624 | DSP | c.5011A= (p.Asn1671=) c.6340A= (p.Asn2114=) c.4543A= (p.Asn1515=) | |
| 6 | g.7583602A>C | CA362690589 | DSP | c.5011A>C (p.Asn1671His) c.6340A>C (p.Asn2114His) c.4543A>C (p.Asn1515His) | COSMIC |
| 6 | g.7583602A>G | CA047350 | DSP | c.5011A>G (p.Asn1671Asp) c.6340A>G (p.Asn2114Asp) c.4543A>G (p.Asn1515Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583602A>T | CA362690590 | DSP | c.5011A>T (p.Asn1671Tyr) c.6340A>T (p.Asn2114Tyr) c.4543A>T (p.Asn1515Tyr) | |
| 6 | g.7583603A= | CA1608608627 | DSP | c.5012A= (p.Asn1671=) c.6341A= (p.Asn2114=) c.4544A= (p.Asn1515=) | |
| 6 | g.7583603A>C | CA362690591 | DSP | c.5012A>C (p.Asn1671Thr) c.6341A>C (p.Asn2114Thr) c.4544A>C (p.Asn1515Thr) | |
| 6 | g.7583603A>G | CA362690592 | DSP | c.5012A>G (p.Asn1671Ser) c.6341A>G (p.Asn2114Ser) c.4544A>G (p.Asn1515Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583603A>T | CA362690593 | DSP | c.5012A>T (p.Asn1671Ile) c.6341A>T (p.Asn2114Ile) c.4544A>T (p.Asn1515Ile) | |
| 6 | g.7583604T>A | CA362690594 | DSP | c.5013T>A (p.Asn1671Lys) c.6342T>A (p.Asn2114Lys) c.4545T>A (p.Asn1515Lys) | |
| 6 | g.7583604T>C | CA448716169 | DSP | c.5013T>C (p.Asn1671=) c.6342T>C (p.Asn2114=) c.4545T>C (p.Asn1515=) | |
| 6 | g.7583604T>G | CA362690595 | DSP | c.5013T>G (p.Asn1671Lys) c.6342T>G (p.Asn2114Lys) c.4545T>G (p.Asn1515Lys) | |
| 6 | g.7583604_7583608delinsTTTGA | CA1608608635 | DSP | c.5013_5017delinsTTTGA (p.Asn1671=) c.6342_6346delinsTTTGA (p.Asn2114=) c.4545_4549delinsTTTGA (p.Asn1515=) | |
| 6 | g.7583605T>A | CA362690596 | DSP | c.5014T>A (p.Leu1672Met) c.6343T>A (p.Leu2115Met) c.4546T>A (p.Leu1516Met) | |
| 6 | g.7583605T>C | CA448716170 | DSP | c.5014T>C (p.Leu1672=) c.6343T>C (p.Leu2115=) c.4546T>C (p.Leu1516=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583605T>G | CA362690597 | DSP | c.5014T>G (p.Leu1672Val) c.6343T>G (p.Leu2115Val) c.4546T>G (p.Leu1516Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583605T= | CA1608608642 | DSP | c.5014T= (p.Leu1672=) c.6343T= (p.Leu2115=) c.4546T= (p.Leu1516=) | |
| 6 | g.7583610_7583613del | CA1085708060 | DSP | c.5019_5022del (p.Asp1674GlufsTer17) c.6348_6351del (p.Asp2117GlufsTer17) c.4551_4554del (p.Asp1518GlufsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583606T>A | CA362690598 | DSP | c.5015T>A (p.Leu1672Ter) c.6344T>A (p.Leu2115Ter) c.4547T>A (p.Leu1516Ter) | |
| 6 | g.7583606T>C | CA362690599 | DSP | c.5015T>C (p.Leu1672Ser) c.6344T>C (p.Leu2115Ser) c.4547T>C (p.Leu1516Ser) | |
| 6 | g.7583606T>G | CA362690600 | DSP | c.5015T>G (p.Leu1672Trp) c.6344T>G (p.Leu2115Trp) c.4547T>G (p.Leu1516Trp) | |
| 6 | g.7583607G>A | CA448716176 | DSP | c.5016G>A (p.Leu1672=) c.6345G>A (p.Leu2115=) c.4548G>A (p.Leu1516=) | |
| 6 | g.7583607G>C | CA362690601 | DSP | c.5016G>C (p.Leu1672Phe) c.6345G>C (p.Leu2115Phe) c.4548G>C (p.Leu1516Phe) | |
| 6 | g.7583607G= | CA1608608650 | DSP | c.5016G= (p.Leu1672=) c.6345G= (p.Leu2115=) c.4548G= (p.Leu1516=) | |
| 6 | g.7583607G>T | CA047362 | DSP | c.5016G>T (p.Leu1672Phe) c.6345G>T (p.Leu2115Phe) c.4548G>T (p.Leu1516Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583608A= | CA1608608660 | DSP | c.5017A= (p.Ile1673=) c.6346A= (p.Ile2116=) c.4549A= (p.Ile1517=) | |
| 6 | g.7583608A>C | CA362690603 | DSP | c.5017A>C (p.Ile1673Leu) c.6346A>C (p.Ile2116Leu) c.4549A>C (p.Ile1517Leu) | |
| 6 | g.7583608A>G | CA047383 | DSP | c.5017A>G (p.Ile1673Val) c.6346A>G (p.Ile2116Val) c.4549A>G (p.Ile1517Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583608A>T | CA362690602 | DSP | c.5017A>T (p.Ile1673Phe) c.6346A>T (p.Ile2116Phe) c.4549A>T (p.Ile1517Phe) | |
| 6 | g.7583609T>A | CA362690604 | DSP | c.5018T>A (p.Ile1673Asn) c.6347T>A (p.Ile2116Asn) c.4550T>A (p.Ile1517Asn) | |
| 6 | g.7583609T>C | CA006872 | DSP | c.5018T>C (p.Ile1673Thr) c.6347T>C (p.Ile2116Thr) c.4550T>C (p.Ile1517Thr) | ClinVar dbSNP |
| 6 | g.7583609T>G | CA362690605 | DSP | c.5018T>G (p.Ile1673Ser) c.6347T>G (p.Ile2116Ser) c.4550T>G (p.Ile1517Ser) | |
| 6 | g.7583609T= | CA1608608670 | DSP | c.5018T= (p.Ile1673=) c.6347T= (p.Ile2116=) c.4550T= (p.Ile1517=) | |
| 6 | g.7583610T>A | CA448716178 | DSP | c.5019T>A (p.Ile1673=) c.6348T>A (p.Ile2116=) c.4551T>A (p.Ile1517=) | |
| 6 | g.7583610T>C | CA448716180 | DSP | c.5019T>C (p.Ile1673=) c.6348T>C (p.Ile2116=) c.4551T>C (p.Ile1517=) | |
| 6 | g.7583610T>G | CA362690606 | DSP | c.5019T>G (p.Ile1673Met) c.6348T>G (p.Ile2116Met) c.4551T>G (p.Ile1517Met) | dbSNP gnomAD v4 |
| 6 | g.7583610T= | CA1608608681 | DSP | c.5019T= (p.Ile1673=) c.6348T= (p.Ile2116=) c.4551T= (p.Ile1517=) | |
| 6 | g.7583611G>A | CA362690607 | DSP | c.5020G>A (p.Asp1674Asn) c.6349G>A (p.Asp2117Asn) c.4552G>A (p.Asp1518Asn) | |
| 6 | g.7583611G>C | CA362690608 | DSP | c.5020G>C (p.Asp1674His) c.6349G>C (p.Asp2117His) c.4552G>C (p.Asp1518His) | ClinVar COSMIC |
| 6 | g.7583611G= | CA1608608685 | DSP | c.5020G= (p.Asp1674=) c.6349G= (p.Asp2117=) c.4552G= (p.Asp1518=) | |
| 6 | g.7583611G>T | CA362690609 | DSP | c.5020G>T (p.Asp1674Tyr) c.6349G>T (p.Asp2117Tyr) c.4552G>T (p.Asp1518Tyr) | dbSNP COSMIC |
| 6 | g.7583612A>C | CA362690610 | DSP | c.5021A>C (p.Asp1674Ala) c.6350A>C (p.Asp2117Ala) c.4553A>C (p.Asp1518Ala) | |
| 6 | g.7583612A>G | CA362690611 | DSP | c.5021A>G (p.Asp1674Gly) c.6350A>G (p.Asp2117Gly) c.4553A>G (p.Asp1518Gly) | |
| 6 | g.7583612A>T | CA362690612 | DSP | c.5021A>T (p.Asp1674Val) c.6350A>T (p.Asp2117Val) c.4553A>T (p.Asp1518Val) | |
| 6 | g.7583613T>A | CA362690614 | DSP | c.5022T>A (p.Asp1674Glu) c.6351T>A (p.Asp2117Glu) c.4554T>A (p.Asp1518Glu) | |
| 6 | g.7583613T>C | CA006883 | DSP | c.5022T>C (p.Asp1674=) c.6351T>C (p.Asp2117=) c.4554T>C (p.Asp1518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583613T>G | CA362690613 | DSP | c.5022T>G (p.Asp1674Glu) c.6351T>G (p.Asp2117Glu) c.4554T>G (p.Asp1518Glu) | |
| 6 | g.7583613T= | CA1608608696 | DSP | c.5022T= (p.Asp1674=) c.6351T= (p.Asp2117=) c.4554T= (p.Asp1518=) | |
| 6 | g.7583614A= | CA1608608709 | DSP | c.5023A= (p.Arg1675=) c.6352A= (p.Arg2118=) c.4555A= (p.Arg1519=) | |
| 6 | g.7583614A>C | CA448716186 | DSP | c.5023A>C (p.Arg1675=) c.6352A>C (p.Arg2118=) c.4555A>C (p.Arg1519=) | |
| 6 | g.7583614A>G | CA362690615 | DSP | c.5023A>G (p.Arg1675Gly) c.6352A>G (p.Arg2118Gly) c.4555A>G (p.Arg1519Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583614A>T | CA362690616 | DSP | c.5023A>T (p.Arg1675Ter) c.6352A>T (p.Arg2118Ter) c.4555A>T (p.Arg1519Ter) | |
| 6 | g.7583615G>A | CA362690617 | DSP | c.5024G>A (p.Arg1675Lys) c.6353G>A (p.Arg2118Lys) c.4556G>A (p.Arg1519Lys) | |
| 6 | g.7583615G>C | CA362690618 | DSP | c.5024G>C (p.Arg1675Thr) c.6353G>C (p.Arg2118Thr) c.4556G>C (p.Arg1519Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.7583615G= | CA1608608712 | DSP | c.5024G= (p.Arg1675=) c.6353G= (p.Arg2118=) c.4556G= (p.Arg1519=) | |
| 6 | g.7583615G>T | CA362690619 | DSP | c.5024G>T (p.Arg1675Ile) c.6353G>T (p.Arg2118Ile) c.4556G>T (p.Arg1519Ile) | gnomAD v4 |
| 6 | g.7583616A>C | CA362690620 | DSP | c.5025A>C (p.Arg1675Ser) c.6354A>C (p.Arg2118Ser) c.4557A>C (p.Arg1519Ser) | |
| 6 | g.7583616A>G | CA448716192 | DSP | c.5025A>G (p.Arg1675=) c.6354A>G (p.Arg2118=) c.4557A>G (p.Arg1519=) | |
| 6 | g.7583616A>T | CA362690621 | DSP | c.5025A>T (p.Arg1675Ser) c.6354A>T (p.Arg2118Ser) c.4557A>T (p.Arg1519Ser) | |
| 6 | g.7583617G>A | CA362690622 | DSP | c.5026G>A (p.Glu1676Lys) c.6355G>A (p.Glu2119Lys) c.4558G>A (p.Glu1520Lys) | |
| 6 | g.7583617G>C | CA362690623 | DSP | c.5026G>C (p.Glu1676Gln) c.6355G>C (p.Glu2119Gln) c.4558G>C (p.Glu1520Gln) | |
| 6 | g.7583617G>T | CA362690624 | DSP | c.5026G>T (p.Glu1676Ter) c.6355G>T (p.Glu2119Ter) c.4558G>T (p.Glu1520Ter) | |
| 6 | g.7583618A>C | CA362690625 | DSP | c.5027A>C (p.Glu1676Ala) c.6356A>C (p.Glu2119Ala) c.4559A>C (p.Glu1520Ala) | |
| 6 | g.7583618A>G | CA362690626 | DSP | c.5027A>G (p.Glu1676Gly) c.6356A>G (p.Glu2119Gly) c.4559A>G (p.Glu1520Gly) | |
| 6 | g.7583618A>T | CA362690627 | DSP | c.5027A>T (p.Glu1676Val) c.6356A>T (p.Glu2119Val) c.4559A>T (p.Glu1520Val) | |
| 6 | g.7583619A>C | CA362690629 | DSP | c.5028A>C (p.Glu1676Asp) c.6357A>C (p.Glu2119Asp) c.4560A>C (p.Glu1520Asp) | |
| 6 | g.7583619A>G | CA448716197 | DSP | c.5028A>G (p.Glu1676=) c.6357A>G (p.Glu2119=) c.4560A>G (p.Glu1520=) | |
| 6 | g.7583619A>T | CA362690628 | DSP | c.5028A>T (p.Glu1676Asp) c.6357A>T (p.Glu2119Asp) c.4560A>T (p.Glu1520Asp) | |
| 6 | g.7583620A= | CA1608608724 | DSP | c.5029A= (p.Thr1677=) c.6358A= (p.Thr2120=) c.4561A= (p.Thr1521=) | |
| 6 | g.7583620A>C | CA362690630 | DSP | c.5029A>C (p.Thr1677Pro) c.6358A>C (p.Thr2120Pro) c.4561A>C (p.Thr1521Pro) | |
| 6 | g.7583620A>G | CA362690631 | DSP | c.5029A>G (p.Thr1677Ala) c.6358A>G (p.Thr2120Ala) c.4561A>G (p.Thr1521Ala) | ClinVar dbSNP |
| 6 | g.7583620A>T | CA362690632 | DSP | c.5029A>T (p.Thr1677Ser) c.6358A>T (p.Thr2120Ser) c.4561A>T (p.Thr1521Ser) | |
| 6 | g.7583621C>A | CA362690633 | DSP | c.5030C>A (p.Thr1677Asn) c.6359C>A (p.Thr2120Asn) c.4562C>A (p.Thr1521Asn) | gnomAD v4 |
| 6 | g.7583621C= | CA1608608740 | DSP | c.5030C= (p.Thr1677=) c.6359C= (p.Thr2120=) c.4562C= (p.Thr1521=) | |
| 6 | g.7583621C>G | CA362690634 | DSP | c.5030C>G (p.Thr1677Ser) c.6359C>G (p.Thr2120Ser) c.4562C>G (p.Thr1521Ser) | |
| 6 | g.7583621C>T | CA362690635 | DSP | c.5030C>T (p.Thr1677Ile) c.6359C>T (p.Thr2120Ile) c.4562C>T (p.Thr1521Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583622C>A | CA448716198 | DSP | c.5031C>A (p.Thr1677=) c.6360C>A (p.Thr2120=) c.4563C>A (p.Thr1521=) | |
| 6 | g.7583622C= | CA1608608747 | DSP | c.5031C= (p.Thr1677=) c.6360C= (p.Thr2120=) c.4563C= (p.Thr1521=) | |
| 6 | g.7583622C>G | CA448716200 | DSP | c.5031C>G (p.Thr1677=) c.6360C>G (p.Thr2120=) c.4563C>G (p.Thr1521=) | |
| 6 | g.7583622C>T | CA047401 | DSP | c.5031C>T (p.Thr1677=) c.6360C>T (p.Thr2120=) c.4563C>T (p.Thr1521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583623G>A | CA047420 | DSP | c.5032G>A (p.Gly1678Arg) c.6361G>A (p.Gly2121Arg) c.4564G>A (p.Gly1522Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583623G>C | CA362690636 | DSP | c.5032G>C (p.Gly1678Arg) c.6361G>C (p.Gly2121Arg) c.4564G>C (p.Gly1522Arg) | |
| 6 | g.7583623G= | CA1608608757 | DSP | c.5032G= (p.Gly1678=) c.6361G= (p.Gly2121=) c.4564G= (p.Gly1522=) | |
| 6 | g.7583623G>T | CA362690637 | DSP | c.5032G>T (p.Gly1678Ter) c.6361G>T (p.Gly2121Ter) c.4564G>T (p.Gly1522Ter) | |
| 6 | g.7583624G>A | CA362690638 | DSP | c.5033G>A (p.Gly1678Glu) c.6362G>A (p.Gly2121Glu) c.4565G>A (p.Gly1522Glu) | dbSNP |
| 6 | g.7583624G>C | CA362690639 | DSP | c.5033G>C (p.Gly1678Ala) c.6362G>C (p.Gly2121Ala) c.4565G>C (p.Gly1522Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583624G= | CA1608608762 | DSP | c.5033G= (p.Gly1678=) c.6362G= (p.Gly2121=) c.4565G= (p.Gly1522=) | |
| 6 | g.7583624G>T | CA362690640 | DSP | c.5033G>T (p.Gly1678Val) c.6362G>T (p.Gly2121Val) c.4565G>T (p.Gly1522Val) | |
| 6 | g.7583625A>C | CA448716208 | DSP | c.5034A>C (p.Gly1678=) c.6363A>C (p.Gly2121=) c.4566A>C (p.Gly1522=) | |
| 6 | g.7583625A>G | CA448716206 | DSP | c.5034A>G (p.Gly1678=) c.6363A>G (p.Gly2121=) c.4566A>G (p.Gly1522=) | |
| 6 | g.7583625A>T | CA448716207 | DSP | c.5034A>T (p.Gly1678=) c.6363A>T (p.Gly2121=) c.4566A>T (p.Gly1522=) | gnomAD v4 |
| 6 | g.7583626A>C | CA362690642 | DSP | c.5035A>C (p.Met1679Leu) c.6364A>C (p.Met2122Leu) c.4567A>C (p.Met1523Leu) | |
| 6 | g.7583626A>G | CA362690643 | DSP | c.5035A>G (p.Met1679Val) c.6364A>G (p.Met2122Val) c.4567A>G (p.Met1523Val) | ClinVar |
| 6 | g.7583626A>T | CA362690641 | DSP | c.5035A>T (p.Met1679Leu) c.6364A>T (p.Met2122Leu) c.4567A>T (p.Met1523Leu) | |
| 6 | g.7583627T>A | CA362690646 | DSP | c.5036T>A (p.Met1679Lys) c.6365T>A (p.Met2122Lys) c.4568T>A (p.Met1523Lys) | |
| 6 | g.7583627T>C | CA362690644 | DSP | c.5036T>C (p.Met1679Thr) c.6365T>C (p.Met2122Thr) c.4568T>C (p.Met1523Thr) | |
| 6 | g.7583627T>G | CA362690645 | DSP | c.5036T>G (p.Met1679Arg) c.6365T>G (p.Met2122Arg) c.4568T>G (p.Met1523Arg) | |
| 6 | g.7583628G>A | CA362690647 | DSP | c.5037G>A (p.Met1679Ile) c.6366G>A (p.Met2122Ile) c.4569G>A (p.Met1523Ile) | |
| 6 | g.7583628G>C | CA362690648 | DSP | c.5037G>C (p.Met1679Ile) c.6366G>C (p.Met2122Ile) c.4569G>C (p.Met1523Ile) | |
| 6 | g.7583628G>T | CA362690649 | DSP | c.5037G>T (p.Met1679Ile) c.6366G>T (p.Met2122Ile) c.4569G>T (p.Met1523Ile) | |
| 6 | g.7583629C>A | CA047435 | DSP | c.5038C>A (p.Arg1680Ser) c.6367C>A (p.Arg2123Ser) c.4570C>A (p.Arg1524Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583629C= | CA1608608781 | DSP | c.5038C= (p.Arg1680=) c.6367C= (p.Arg2123=) c.4570C= (p.Arg1524=) | |
| 6 | g.7583629C>G | CA362690650 | DSP | c.5038C>G (p.Arg1680Gly) c.6367C>G (p.Arg2123Gly) c.4570C>G (p.Arg1524Gly) | |
| 6 | g.7583629C>T | CA006892 | DSP | c.5038C>T (p.Arg1680Cys) c.6367C>T (p.Arg2123Cys) c.4570C>T (p.Arg1524Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583629_7583633delinsCGCCT | CA1608608779 | DSP | c.5038_5042delinsCGCCT (p.Arg1680=) c.6367_6371delinsCGCCT (p.Arg2123=) c.4570_4574delinsCGCCT (p.Arg1524=) | |
| 6 | g.7583630G>A | CA047459 | DSP | c.5039G>A (p.Arg1680His) c.6368G>A (p.Arg2123His) c.4571G>A (p.Arg1524His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583630G>C | CA362690651 | DSP | c.5039G>C (p.Arg1680Pro) c.6368G>C (p.Arg2123Pro) c.4571G>C (p.Arg1524Pro) | |
| 6 | g.7583630G= | CA1608608789 | DSP | c.5039G= (p.Arg1680=) c.6368G= (p.Arg2123=) c.4571G= (p.Arg1524=) | |
| 6 | g.7583630G>T | CA362690652 | DSP | c.5039G>T (p.Arg1680Leu) c.6368G>T (p.Arg2123Leu) c.4571G>T (p.Arg1524Leu) | |
| 6 | g.7583632_7583635del | CA1139659421 | DSP | c.5041_5044del (p.Leu1681TrpfsTer10) c.6370_6373del (p.Leu2124TrpfsTer10) c.4573_4576del (p.Leu1525TrpfsTer10) | ClinVar dbSNP |
| 6 | g.7583631C>A | CA448716216 | DSP | c.5040C>A (p.Arg1680=) c.6369C>A (p.Arg2123=) c.4572C>A (p.Arg1524=) | ClinVar dbSNP |
| 6 | g.7583631C= | CA1608608803 | DSP | c.5040C= (p.Arg1680=) c.6369C= (p.Arg2123=) c.4572C= (p.Arg1524=) | |
| 6 | g.7583631C>G | CA448716217 | DSP | c.5040C>G (p.Arg1680=) c.6369C>G (p.Arg2123=) c.4572C>G (p.Arg1524=) | |
| 6 | g.7583631C>T | CA448716218 | DSP | c.5040C>T (p.Arg1680=) c.6369C>T (p.Arg2123=) c.4572C>T (p.Arg1524=) | |
| 6 | g.7583632C>A | CA362690653 | DSP | c.5041C>A (p.Leu1681Met) c.6370C>A (p.Leu2124Met) c.4573C>A (p.Leu1525Met) | gnomAD v4 |
| 6 | g.7583632C>G | CA362690654 | DSP | c.5041C>G (p.Leu1681Val) c.6370C>G (p.Leu2124Val) c.4573C>G (p.Leu1525Val) | |
| 6 | g.7583632C>T | CA448716221 | DSP | c.5041C>T (p.Leu1681=) c.6370C>T (p.Leu2124=) c.4573C>T (p.Leu1525=) | ClinVar |
| 6 | g.7583633T>A | CA362690657 | DSP | c.5042T>A (p.Leu1681Gln) c.6371T>A (p.Leu2124Gln) c.4574T>A (p.Leu1525Gln) | |
| 6 | g.7583633T>C | CA362690656 | DSP | c.5042T>C (p.Leu1681Pro) c.6371T>C (p.Leu2124Pro) c.4574T>C (p.Leu1525Pro) | |
| 6 | g.7583633T>G | CA362690655 | DSP | c.5042T>G (p.Leu1681Arg) c.6371T>G (p.Leu2124Arg) c.4574T>G (p.Leu1525Arg) | |
| 6 | g.7583634G>A | CA448716222 | DSP | c.5043G>A (p.Leu1681=) c.6372G>A (p.Leu2124=) c.4575G>A (p.Leu1525=) | gnomAD v4 |
| 6 | g.7583634G>C | CA448716223 | DSP | c.5043G>C (p.Leu1681=) c.6372G>C (p.Leu2124=) c.4575G>C (p.Leu1525=) | |
| 6 | g.7583634G>T | CA448716224 | DSP | c.5043G>T (p.Leu1681=) c.6372G>T (p.Leu2124=) c.4575G>T (p.Leu1525=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583635C>A | CA362690658 | DSP | c.5044C>A (p.Leu1682Met) c.6373C>A (p.Leu2125Met) c.4576C>A (p.Leu1526Met) | |
| 6 | g.7583635C= | CA1608608812 | DSP | c.5044C= (p.Leu1682=) c.6373C= (p.Leu2125=) c.4576C= (p.Leu1526=) | |
| 6 | g.7583635C>G | CA362690659 | DSP | c.5044C>G (p.Leu1682Val) c.6373C>G (p.Leu2125Val) c.4576C>G (p.Leu1526Val) | |
| 6 | g.7583635C>T | CA448716227 | DSP | c.5044C>T (p.Leu1682=) c.6373C>T (p.Leu2125=) c.4576C>T (p.Leu1526=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583636T>A | CA362690660 | DSP | c.5045T>A (p.Leu1682Gln) c.6374T>A (p.Leu2125Gln) c.4577T>A (p.Leu1526Gln) | |
| 6 | g.7583636T>C | CA362690661 | DSP | c.5045T>C (p.Leu1682Pro) c.6374T>C (p.Leu2125Pro) c.4577T>C (p.Leu1526Pro) | gnomAD v4 |
| 6 | g.7583636T>G | CA362690662 | DSP | c.5045T>G (p.Leu1682Arg) c.6374T>G (p.Leu2125Arg) c.4577T>G (p.Leu1526Arg) | |
| 6 | g.7583637G>A | CA448716228 | DSP | c.5046G>A (p.Leu1682=) c.6375G>A (p.Leu2125=) c.4578G>A (p.Leu1526=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583637G>C | CA448716229 | DSP | c.5046G>C (p.Leu1682=) c.6375G>C (p.Leu2125=) c.4578G>C (p.Leu1526=) | |
| 6 | g.7583637G>T | CA448716230 | DSP | c.5046G>T (p.Leu1682=) c.6375G>T (p.Leu2125=) c.4578G>T (p.Leu1526=) | |
| 6 | g.7583638G>A | CA362690663 | DSP | c.5047G>A (p.Glu1683Lys) c.6376G>A (p.Glu2126Lys) c.4579G>A (p.Glu1527Lys) | |
| 6 | g.7583638G>C | CA362690664 | DSP | c.5047G>C (p.Glu1683Gln) c.6376G>C (p.Glu2126Gln) c.4579G>C (p.Glu1527Gln) | |
| 6 | g.7583638G>T | CA362690665 | DSP | c.5047G>T (p.Glu1683Ter) c.6376G>T (p.Glu2126Ter) c.4579G>T (p.Glu1527Ter) | |
| 6 | g.7583639A= | CA1608608839 | DSP | c.5048A= (p.Glu1683=) c.6377A= (p.Glu2126=) c.4580A= (p.Glu1527=) | |
| 6 | g.7583639A>C | CA362690666 | DSP | c.5048A>C (p.Glu1683Ala) c.6377A>C (p.Glu2126Ala) c.4580A>C (p.Glu1527Ala) | |
| 6 | g.7583639A>G | CA047474 | DSP | c.5048A>G (p.Glu1683Gly) c.6377A>G (p.Glu2126Gly) c.4580A>G (p.Glu1527Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583639A>T | CA362690667 | DSP | c.5048A>T (p.Glu1683Val) c.6377A>T (p.Glu2126Val) c.4580A>T (p.Glu1527Val) | |
| 6 | g.7583640A= | CA1608608843 | DSP | c.5049A= (p.Glu1683=) c.6378A= (p.Glu2126=) c.4581A= (p.Glu1527=) | |
| 6 | g.7583640A>C | CA362690668 | DSP | c.5049A>C (p.Glu1683Asp) c.6378A>C (p.Glu2126Asp) c.4581A>C (p.Glu1527Asp) | |
| 6 | g.7583640A>G | CA448716233 | DSP | c.5049A>G (p.Glu1683=) c.6378A>G (p.Glu2126=) c.4581A>G (p.Glu1527=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583640A>T | CA362690669 | DSP | c.5049A>T (p.Glu1683Asp) c.6378A>T (p.Glu2126Asp) c.4581A>T (p.Glu1527Asp) | |
| 6 | g.7583641G>A | CA362690671 | DSP | c.5050G>A (p.Ala1684Thr) c.6379G>A (p.Ala2127Thr) c.4582G>A (p.Ala1528Thr) | |
| 6 | g.7583641G>C | CA362690672 | DSP | c.5050G>C (p.Ala1684Pro) c.6379G>C (p.Ala2127Pro) c.4582G>C (p.Ala1528Pro) | |
| 6 | g.7583641G>T | CA362690670 | DSP | c.5050G>T (p.Ala1684Ser) c.6379G>T (p.Ala2127Ser) c.4582G>T (p.Ala1528Ser) | |
| 6 | g.7583642C>A | CA362690673 | DSP | c.5051C>A (p.Ala1684Asp) c.6380C>A (p.Ala2127Asp) c.4583C>A (p.Ala1528Asp) | |
| 6 | g.7583642C>G | CA362690674 | DSP | c.5051C>G (p.Ala1684Gly) c.6380C>G (p.Ala2127Gly) c.4583C>G (p.Ala1528Gly) | |
| 6 | g.7583642C>T | CA362690675 | DSP | c.5051C>T (p.Ala1684Val) c.6380C>T (p.Ala2127Val) c.4583C>T (p.Ala1528Val) | ClinVar |
| 6 | g.7583643C>A | CA448716236 | DSP | c.5052C>A (p.Ala1684=) c.6381C>A (p.Ala2127=) c.4584C>A (p.Ala1528=) | |
| 6 | g.7583643C= | CA1608608848 | DSP | c.5052C= (p.Ala1684=) c.6381C= (p.Ala2127=) c.4584C= (p.Ala1528=) | |
| 6 | g.7583643C>G | CA448716239 | DSP | c.5052C>G (p.Ala1684=) c.6381C>G (p.Ala2127=) c.4584C>G (p.Ala1528=) | |
| 6 | g.7583643C>T | CA047483 | DSP | c.5052C>T (p.Ala1684=) c.6381C>T (p.Ala2127=) c.4584C>T (p.Ala1528=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583644C>A | CA362690676 | DSP | c.5053C>A (p.Gln1685Lys) c.6382C>A (p.Gln2128Lys) c.4585C>A (p.Gln1529Lys) | |
| 6 | g.7583644C>G | CA362690677 | DSP | c.5053C>G (p.Gln1685Glu) c.6382C>G (p.Gln2128Glu) c.4585C>G (p.Gln1529Glu) | |
| 6 | g.7583644C>T | CA362690678 | DSP | c.5053C>T (p.Gln1685Ter) c.6382C>T (p.Gln2128Ter) c.4585C>T (p.Gln1529Ter) | ClinVar dbSNP |
| 6 | g.7583645A>C | CA362690679 | DSP | c.5054A>C (p.Gln1685Pro) c.6383A>C (p.Gln2128Pro) c.4586A>C (p.Gln1529Pro) | |
| 6 | g.7583645A>G | CA362690680 | DSP | c.5054A>G (p.Gln1685Arg) c.6383A>G (p.Gln2128Arg) c.4586A>G (p.Gln1529Arg) | gnomAD v4 |
| 6 | g.7583645A>T | CA362690681 | DSP | c.5054A>T (p.Gln1685Leu) c.6383A>T (p.Gln2128Leu) c.4586A>T (p.Gln1529Leu) | |
| 6 | g.7583646G>A | CA448716242 | DSP | c.5055G>A (p.Gln1685=) c.6384G>A (p.Gln2128=) c.4587G>A (p.Gln1529=) | dbSNP gnomAD v4 |
| 6 | g.7583646G>C | CA047502 | DSP | c.5055G>C (p.Gln1685His) c.6384G>C (p.Gln2128His) c.4587G>C (p.Gln1529His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583646G= | CA1608608853 | DSP | c.5055G= (p.Gln1685=) c.6384G= (p.Gln2128=) c.4587G= (p.Gln1529=) | |
| 6 | g.7583646G>T | CA362690682 | DSP | c.5055G>T (p.Gln1685His) c.6384G>T (p.Gln2128His) c.4587G>T (p.Gln1529His) | |
| 6 | g.7583647A= | CA1608608857 | DSP | c.5056A= (p.Ile1686=) c.6385A= (p.Ile2129=) c.4588A= (p.Ile1530=) | |
| 6 | g.7583647A>C | CA362690684 | DSP | c.5056A>C (p.Ile1686Leu) c.6385A>C (p.Ile2129Leu) c.4588A>C (p.Ile1530Leu) | |
| 6 | g.7583647A>G | CA047512 | DSP | c.5056A>G (p.Ile1686Val) c.6385A>G (p.Ile2129Val) c.4588A>G (p.Ile1530Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583647A>T | CA362690683 | DSP | c.5056A>T (p.Ile1686Phe) c.6385A>T (p.Ile2129Phe) c.4588A>T (p.Ile1530Phe) | |
| 6 | g.7583648T>A | CA362690685 | DSP | c.5057T>A (p.Ile1686Asn) c.6386T>A (p.Ile2129Asn) c.4589T>A (p.Ile1530Asn) | |
| 6 | g.7583648T>C | CA362690686 | DSP | c.5057T>C (p.Ile1686Thr) c.6386T>C (p.Ile2129Thr) c.4589T>C (p.Ile1530Thr) | gnomAD v4 |
| 6 | g.7583648T>G | CA362690687 | DSP | c.5057T>G (p.Ile1686Ser) c.6386T>G (p.Ile2129Ser) c.4589T>G (p.Ile1530Ser) | ClinVar dbSNP |
| 6 | g.7583648T= | CA1608608868 | DSP | c.5057T= (p.Ile1686=) c.6386T= (p.Ile2129=) c.4589T= (p.Ile1530=) | |
| 6 | g.7583649T>A | CA448716246 | DSP | c.5058T>A (p.Ile1686=) c.6387T>A (p.Ile2129=) c.4590T>A (p.Ile1530=) | |
| 6 | g.7583649T>C | CA448716247 | DSP | c.5058T>C (p.Ile1686=) c.6387T>C (p.Ile2129=) c.4590T>C (p.Ile1530=) | |
| 6 | g.7583649T>G | CA362690688 | DSP | c.5058T>G (p.Ile1686Met) c.6387T>G (p.Ile2129Met) c.4590T>G (p.Ile1530Met) | |
| 6 | g.7583650G>A | CA362690689 | DSP | c.5059G>A (p.Ala1687Thr) c.6388G>A (p.Ala2130Thr) c.4591G>A (p.Ala1531Thr) | |
| 6 | g.7583650G>C | CA362690690 | DSP | c.5059G>C (p.Ala1687Pro) c.6388G>C (p.Ala2130Pro) c.4591G>C (p.Ala1531Pro) | |
| 6 | g.7583650G>T | CA362690691 | DSP | c.5059G>T (p.Ala1687Ser) c.6388G>T (p.Ala2130Ser) c.4591G>T (p.Ala1531Ser) | |
| 6 | g.7583651C>A | CA362690692 | DSP | c.5060C>A (p.Ala1687Asp) c.6389C>A (p.Ala2130Asp) c.4592C>A (p.Ala1531Asp) | |
| 6 | g.7583651C>G | CA362690693 | DSP | c.5060C>G (p.Ala1687Gly) c.6389C>G (p.Ala2130Gly) c.4592C>G (p.Ala1531Gly) | |
| 6 | g.7583651C>T | CA362690694 | DSP | c.5060C>T (p.Ala1687Val) c.6389C>T (p.Ala2130Val) c.4592C>T (p.Ala1531Val) | gnomAD v4 |
| 6 | g.7583652T>A | CA448716249 | DSP | c.5061T>A (p.Ala1687=) c.6390T>A (p.Ala2130=) c.4593T>A (p.Ala1531=) | |
| 6 | g.7583652T>C | CA006901 | DSP | c.5061T>C (p.Ala1687=) c.6390T>C (p.Ala2130=) c.4593T>C (p.Ala1531=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583652T>G | CA448716251 | DSP | c.5061T>G (p.Ala1687=) c.6390T>G (p.Ala2130=) c.4593T>G (p.Ala1531=) | |
| 6 | g.7583652T= | CA1608608875 | DSP | c.5061T= (p.Ala1687=) c.6390T= (p.Ala2130=) c.4593T= (p.Ala1531=) | |
| 6 | g.7583653T>A | CA362690696 | DSP | c.5062T>A (p.Ser1688Thr) c.6391T>A (p.Ser2131Thr) c.4594T>A (p.Ser1532Thr) | |
| 6 | g.7583653T>C | CA362690697 | DSP | c.5062T>C (p.Ser1688Pro) c.6391T>C (p.Ser2131Pro) c.4594T>C (p.Ser1532Pro) | |
| 6 | g.7583653T>G | CA362690695 | DSP | c.5062T>G (p.Ser1688Ala) c.6391T>G (p.Ser2131Ala) c.4594T>G (p.Ser1532Ala) | dbSNP |
| 6 | g.7583654C>A | CA362690700 | DSP | c.5063C>A (p.Ser1688Ter) c.6392C>A (p.Ser2131Ter) c.4595C>A (p.Ser1532Ter) | |
| 6 | g.7583654C= | CA1608608879 | DSP | c.5063C= (p.Ser1688=) c.6392C= (p.Ser2131=) c.4595C= (p.Ser1532=) | |
| 6 | g.7583654C>G | CA362690698 | DSP | c.5063C>G (p.Ser1688Ter) c.6392C>G (p.Ser2131Ter) c.4595C>G (p.Ser1532Ter) | |
| 6 | g.7583654C>T | CA362690699 | DSP | c.5063C>T (p.Ser1688Leu) c.6392C>T (p.Ser2131Leu) c.4595C>T (p.Ser1532Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583654_7583655delinsCA | CA1608608878 | DSP | c.5063_5064delinsCA (p.Ser1688=) c.6392_6393delinsCA (p.Ser2131=) c.4595_4596delinsCA (p.Ser1532=) | |
| 6 | g.7583655del | CA006906 | DSP | c.5064del (p.Gly1690ValfsTer2) c.6393del (p.Gly2133ValfsTer2) c.4596del (p.Gly1534ValfsTer2) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583655A>C | CA448716260 | DSP | c.5064A>C (p.Ser1688=) c.6393A>C (p.Ser2131=) c.4596A>C (p.Ser1532=) | |
| 6 | g.7583655A>G | CA448716259 | DSP | c.5064A>G (p.Ser1688=) c.6393A>G (p.Ser2131=) c.4596A>G (p.Ser1532=) | |
| 6 | g.7583655A>T | CA448716256 | DSP | c.5064A>T (p.Ser1688=) c.6393A>T (p.Ser2131=) c.4596A>T (p.Ser1532=) | |
| 6 | g.7583655_7583656delinsAG | CA1608608884 | DSP | c.5064_5065delinsAG (p.Ser1688=) c.6393_6394delinsAG (p.Ser2131=) c.4596_4597delinsAG (p.Ser1532=) | |
| 6 | g.7583656G>A | CA362690701 | DSP | c.5065G>A (p.Gly1689Arg) c.6394G>A (p.Gly2132Arg) c.4597G>A (p.Gly1533Arg) | dbSNP |
| 6 | g.7583656G>C | CA362690702 | DSP | c.5065G>C (p.Gly1689Arg) c.6394G>C (p.Gly2132Arg) c.4597G>C (p.Gly1533Arg) | |
| 6 | g.7583656G= | CA1608608893 | DSP | c.5065G= (p.Gly1689=) c.6394G= (p.Gly2132=) c.4597G= (p.Gly1533=) | |
| 6 | g.7583656G>T | CA362690703 | DSP | c.5065G>T (p.Gly1689Trp) c.6394G>T (p.Gly2132Trp) c.4597G>T (p.Gly1533Trp) | gnomAD v4 |
| 6 | g.7583660dup | CA303945 | DSP | c.5069dup (p.Val1691CysfsTer22) c.6398dup (p.Val2134CysfsTer22) c.4601dup (p.Val1535CysfsTer22) | ClinVar dbSNP |
| 6 | g.7583660del | CA1085708089 | DSP | c.5069del (p.Gly1690ValfsTer2) c.6398del (p.Gly2133ValfsTer2) c.4601del (p.Gly1534ValfsTer2) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583657G>A | CA047540 | DSP | c.5066G>A (p.Gly1689Glu) c.6395G>A (p.Gly2132Glu) c.4598G>A (p.Gly1533Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583657G>C | CA362690704 | DSP | c.5066G>C (p.Gly1689Ala) c.6395G>C (p.Gly2132Ala) c.4598G>C (p.Gly1533Ala) | |
| 6 | g.7583657G= | CA1608608898 | DSP | c.5066G= (p.Gly1689=) c.6395G= (p.Gly2132=) c.4598G= (p.Gly1533=) | |
| 6 | g.7583657G>T | CA362690705 | DSP | c.5066G>T (p.Gly1689Val) c.6395G>T (p.Gly2132Val) c.4598G>T (p.Gly1533Val) | gnomAD v4 |
| 6 | g.7583658G>A | CA448716265 | DSP | c.5067G>A (p.Gly1689=) c.6396G>A (p.Gly2132=) c.4599G>A (p.Gly1533=) | ClinVar COSMIC |
| 6 | g.7583658G>C | CA448716268 | DSP | c.5067G>C (p.Gly1689=) c.6396G>C (p.Gly2132=) c.4599G>C (p.Gly1533=) | |
| 6 | g.7583658G>T | CA448716267 | DSP | c.5067G>T (p.Gly1689=) c.6396G>T (p.Gly2132=) c.4599G>T (p.Gly1533=) | |
| 6 | g.7583659G>A | CA006920 | DSP | c.5068G>A (p.Gly1690Ser) c.6397G>A (p.Gly2133Ser) c.4600G>A (p.Gly1534Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583659G>C | CA362690706 | DSP | c.5068G>C (p.Gly1690Arg) c.6397G>C (p.Gly2133Arg) c.4600G>C (p.Gly1534Arg) | |
| 6 | g.7583659G= | CA1608608909 | DSP | c.5068G= (p.Gly1690=) c.6397G= (p.Gly2133=) c.4600G= (p.Gly1534=) | |
| 6 | g.7583659G>T | CA047554 | DSP | c.5068G>T (p.Gly1690Cys) c.6397G>T (p.Gly2133Cys) c.4600G>T (p.Gly1534Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583660G>A | CA362690708 | DSP | c.5069G>A (p.Gly1690Asp) c.6398G>A (p.Gly2133Asp) c.4601G>A (p.Gly1534Asp) | |
| 6 | g.7583660G>C | CA362690709 | DSP | c.5069G>C (p.Gly1690Ala) c.6398G>C (p.Gly2133Ala) c.4601G>C (p.Gly1534Ala) | gnomAD v4 |
| 6 | g.7583660G>T | CA362690707 | DSP | c.5069G>T (p.Gly1690Val) c.6398G>T (p.Gly2133Val) c.4601G>T (p.Gly1534Val) | |
| 6 | g.7583661T>A | CA448716275 | DSP | c.5070T>A (p.Gly1690=) c.6399T>A (p.Gly2133=) c.4602T>A (p.Gly1534=) | |
| 6 | g.7583661T>C | CA047565 | DSP | c.5070T>C (p.Gly1690=) c.6399T>C (p.Gly2133=) c.4602T>C (p.Gly1534=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583661T>G | CA448716277 | DSP | c.5070T>G (p.Gly1690=) c.6399T>G (p.Gly2133=) c.4602T>G (p.Gly1534=) | |
| 6 | g.7583661T= | CA1608608926 | DSP | c.5070T= (p.Gly1690=) c.6399T= (p.Gly2133=) c.4602T= (p.Gly1534=) | |
| 6 | g.7583662G>A | CA362690710 | DSP | c.5071G>A (p.Val1691Ile) c.6400G>A (p.Val2134Ile) c.4603G>A (p.Val1535Ile) | gnomAD v4 |
| 6 | g.7583662G>C | CA362690711 | DSP | c.5071G>C (p.Val1691Leu) c.6400G>C (p.Val2134Leu) c.4603G>C (p.Val1535Leu) | |
| 6 | g.7583662G>T | CA362690712 | DSP | c.5071G>T (p.Val1691Leu) c.6400G>T (p.Val2134Leu) c.4603G>T (p.Val1535Leu) | |
| 6 | g.7583663T>A | CA362690715 | DSP | c.5072T>A (p.Val1691Glu) c.6401T>A (p.Val2134Glu) c.4604T>A (p.Val1535Glu) | |
| 6 | g.7583663T>C | CA362690714 | DSP | c.5072T>C (p.Val1691Ala) c.6401T>C (p.Val2134Ala) c.4604T>C (p.Val1535Ala) | ClinVar gnomAD v4 |
| 6 | g.7583663T>G | CA362690713 | DSP | c.5072T>G (p.Val1691Gly) c.6401T>G (p.Val2134Gly) c.4604T>G (p.Val1535Gly) | |
| 6 | g.7583664A= | CA1608608928 | DSP | c.5073A= (p.Val1691=) c.6402A= (p.Val2134=) c.4605A= (p.Val1535=) | |
| 6 | g.7583664A>C | CA448716283 | DSP | c.5073A>C (p.Val1691=) c.6402A>C (p.Val2134=) c.4605A>C (p.Val1535=) | |
| 6 | g.7583664A>G | CA448716284 | DSP | c.5073A>G (p.Val1691=) c.6402A>G (p.Val2134=) c.4605A>G (p.Val1535=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583664A>T | CA448716285 | DSP | c.5073A>T (p.Val1691=) c.6402A>T (p.Val2134=) c.4605A>T (p.Val1535=) | |
| 6 | g.7583665G>A | CA362690716 | DSP | c.5074G>A (p.Val1692Ile) c.6403G>A (p.Val2135Ile) c.4606G>A (p.Val1536Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583665G>C | CA362690717 | DSP | c.5074G>C (p.Val1692Leu) c.6403G>C (p.Val2135Leu) c.4606G>C (p.Val1536Leu) | |
| 6 | g.7583665G= | CA1608608934 | DSP | c.5074G= (p.Val1692=) c.6403G= (p.Val2135=) c.4606G= (p.Val1536=) | |
| 6 | g.7583665G>T | CA362690718 | DSP | c.5074G>T (p.Val1692Leu) c.6403G>T (p.Val2135Leu) c.4606G>T (p.Val1536Leu) | gnomAD v4 |
| 6 | g.7583666T>A | CA362690719 | DSP | c.5075T>A (p.Val1692Glu) c.6404T>A (p.Val2135Glu) c.4607T>A (p.Val1536Glu) | |
| 6 | g.7583666T>C | CA133974859 | DSP | c.5075T>C (p.Val1692Ala) c.6404T>C (p.Val2135Ala) c.4607T>C (p.Val1536Ala) | dbSNP gnomAD v4 |
| 6 | g.7583666T>G | CA362690720 | DSP | c.5075T>G (p.Val1692Gly) c.6404T>G (p.Val2135Gly) c.4607T>G (p.Val1536Gly) | |
| 6 | g.7583666T= | CA1608608937 | DSP | c.5075T= (p.Val1692=) c.6404T= (p.Val2135=) c.4607T= (p.Val1536=) | |
| 6 | g.7583667A>C | CA448716296 | DSP | c.5076A>C (p.Val1692=) c.6405A>C (p.Val2135=) c.4608A>C (p.Val1536=) | |
| 6 | g.7583667A>G | CA448716297 | DSP | c.5076A>G (p.Val1692=) c.6405A>G (p.Val2135=) c.4608A>G (p.Val1536=) | ClinVar dbSNP |
| 6 | g.7583667A>T | CA448716299 | DSP | c.5076A>T (p.Val1692=) c.6405A>T (p.Val2135=) c.4608A>T (p.Val1536=) | |
| 6 | g.7583668G>A | CA362690723 | DSP | c.5077G>A (p.Asp1693Asn) c.6406G>A (p.Asp2136Asn) c.4609G>A (p.Asp1537Asn) | |
| 6 | g.7583668G>C | CA362690722 | DSP | c.5077G>C (p.Asp1693His) c.6406G>C (p.Asp2136His) c.4609G>C (p.Asp1537His) | |
| 6 | g.7583668G>T | CA362690721 | DSP | c.5077G>T (p.Asp1693Tyr) c.6406G>T (p.Asp2136Tyr) c.4609G>T (p.Asp1537Tyr) | |
| 6 | g.7583669A= | CA1608608947 | DSP | c.5078A= (p.Asp1693=) c.6407A= (p.Asp2136=) c.4610A= (p.Asp1537=) | |
| 6 | g.7583669A>C | CA362690724 | DSP | c.5078A>C (p.Asp1693Ala) c.6407A>C (p.Asp2136Ala) c.4610A>C (p.Asp1537Ala) | |
| 6 | g.7583669A>G | CA362690725 | DSP | c.5078A>G (p.Asp1693Gly) c.6407A>G (p.Asp2136Gly) c.4610A>G (p.Asp1537Gly) | |
| 6 | g.7583669A>T | CA362690726 | DSP | c.5078A>T (p.Asp1693Val) c.6407A>T (p.Asp2136Val) c.4610A>T (p.Asp1537Val) | |
| 6 | g.7583670C>A | CA362690727 | DSP | c.5079C>A (p.Asp1693Glu) c.6408C>A (p.Asp2136Glu) c.4611C>A (p.Asp1537Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583670C= | CA1608608961 | DSP | c.5079C= (p.Asp1693=) c.6408C= (p.Asp2136=) c.4611C= (p.Asp1537=) | |
| 6 | g.7583670C>G | CA362690728 | DSP | c.5079C>G (p.Asp1693Glu) c.6408C>G (p.Asp2136Glu) c.4611C>G (p.Asp1537Glu) | |
| 6 | g.7583670C>T | CA047583 | DSP | c.5079C>T (p.Asp1693=) c.6408C>T (p.Asp2136=) c.4611C>T (p.Asp1537=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583672dup | CA273830 | DSP | c.5081dup (p.Val1695CysfsTer18) c.6410dup (p.Val2138CysfsTer18) c.4613dup (p.Val1539CysfsTer18) | dbSNP |
| 6 | g.7583671C>A | CA362690731 | DSP | c.5080C>A (p.Pro1694Thr) c.6409C>A (p.Pro2137Thr) c.4612C>A (p.Pro1538Thr) | ClinVar dbSNP |
| 6 | g.7583671C>G | CA362690730 | DSP | c.5080C>G (p.Pro1694Ala) c.6409C>G (p.Pro2137Ala) c.4612C>G (p.Pro1538Ala) | |
| 6 | g.7583671C>T | CA362690729 | DSP | c.5080C>T (p.Pro1694Ser) c.6409C>T (p.Pro2137Ser) c.4612C>T (p.Pro1538Ser) | |
| 6 | g.7583672C>A | CA362690732 | DSP | c.5081C>A (p.Pro1694His) c.6410C>A (p.Pro2137His) c.4613C>A (p.Pro1538His) | |
| 6 | g.7583672C>G | CA362690733 | DSP | c.5081C>G (p.Pro1694Arg) c.6410C>G (p.Pro2137Arg) c.4613C>G (p.Pro1538Arg) | |
| 6 | g.7583672C>T | CA362690734 | DSP | c.5081C>T (p.Pro1694Leu) c.6410C>T (p.Pro2137Leu) c.4613C>T (p.Pro1538Leu) | gnomAD v4 |
| 6 | g.7583673T>A | CA448716311 | DSP | c.5082T>A (p.Pro1694=) c.6411T>A (p.Pro2137=) c.4614T>A (p.Pro1538=) | |
| 6 | g.7583673T>C | CA448716315 | DSP | c.5082T>C (p.Pro1694=) c.6411T>C (p.Pro2137=) c.4614T>C (p.Pro1538=) | |
| 6 | g.7583673T>G | CA448716313 | DSP | c.5082T>G (p.Pro1694=) c.6411T>G (p.Pro2137=) c.4614T>G (p.Pro1538=) | |
| 6 | g.7583674G>A | CA362690735 | DSP | c.5083G>A (p.Val1695Met) c.6412G>A (p.Val2138Met) c.4615G>A (p.Val1539Met) | |
| 6 | g.7583674G>C | CA362690736 | DSP | c.5083G>C (p.Val1695Leu) c.6412G>C (p.Val2138Leu) c.4615G>C (p.Val1539Leu) | |
| 6 | g.7583674G>T | CA362690737 | DSP | c.5083G>T (p.Val1695Leu) c.6412G>T (p.Val2138Leu) c.4615G>T (p.Val1539Leu) | |
| 6 | g.7583675T>A | CA362690738 | DSP | c.5084T>A (p.Val1695Glu) c.6413T>A (p.Val2138Glu) c.4616T>A (p.Val1539Glu) | |
| 6 | g.7583675T>C | CA362690740 | DSP | c.5084T>C (p.Val1695Ala) c.6413T>C (p.Val2138Ala) c.4616T>C (p.Val1539Ala) | |
| 6 | g.7583675T>G | CA362690739 | DSP | c.5084T>G (p.Val1695Gly) c.6413T>G (p.Val2138Gly) c.4616T>G (p.Val1539Gly) | |
| 6 | g.7583676G>A | CA047601 | DSP | c.5085G>A (p.Val1695=) c.6414G>A (p.Val2138=) c.4617G>A (p.Val1539=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583676G>C | CA448716322 | DSP | c.5085G>C (p.Val1695=) c.6414G>C (p.Val2138=) c.4617G>C (p.Val1539=) | |
| 6 | g.7583676G= | CA1608608963 | DSP | c.5085G= (p.Val1695=) c.6414G= (p.Val2138=) c.4617G= (p.Val1539=) | |
| 6 | g.7583676G>T | CA448716324 | DSP | c.5085G>T (p.Val1695=) c.6414G>T (p.Val2138=) c.4617G>T (p.Val1539=) | |
| 6 | g.7583677A= | CA1608608976 | DSP | c.5086A= (p.Asn1696=) c.6415A= (p.Asn2139=) c.4618A= (p.Asn1540=) | |
| 6 | g.7583677A>C | CA362690741 | DSP | c.5086A>C (p.Asn1696His) c.6415A>C (p.Asn2139His) c.4618A>C (p.Asn1540His) | COSMIC |
| 6 | g.7583677A>G | CA047619 | DSP | c.5086A>G (p.Asn1696Asp) c.6415A>G (p.Asn2139Asp) c.4618A>G (p.Asn1540Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583677A>T | CA362690742 | DSP | c.5086A>T (p.Asn1696Tyr) c.6415A>T (p.Asn2139Tyr) c.4618A>T (p.Asn1540Tyr) | |
| 6 | g.7583678A= | CA1608608980 | DSP | c.5087A= (p.Asn1696=) c.6416A= (p.Asn2139=) c.4619A= (p.Asn1540=) | |
| 6 | g.7583678A>C | CA362690743 | DSP | c.5087A>C (p.Asn1696Thr) c.6416A>C (p.Asn2139Thr) c.4619A>C (p.Asn1540Thr) | |
| 6 | g.7583678A>G | CA047627 | DSP | c.5087A>G (p.Asn1696Ser) c.6416A>G (p.Asn2139Ser) c.4619A>G (p.Asn1540Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583678A>T | CA362690744 | DSP | c.5087A>T (p.Asn1696Ile) c.6416A>T (p.Asn2139Ile) c.4619A>T (p.Asn1540Ile) | gnomAD v4 |
| 6 | g.7583679C>A | CA362690745 | DSP | c.5088C>A (p.Asn1696Lys) c.6417C>A (p.Asn2139Lys) c.4620C>A (p.Asn1540Lys) | |
| 6 | g.7583679C>G | CA362690746 | DSP | c.5088C>G (p.Asn1696Lys) c.6417C>G (p.Asn2139Lys) c.4620C>G (p.Asn1540Lys) | gnomAD v4 |
| 6 | g.7583679C>T | CA448716335 | DSP | c.5088C>T (p.Asn1696=) c.6417C>T (p.Asn2139=) c.4620C>T (p.Asn1540=) | ClinVar gnomAD v4 |
| 6 | g.7583680A>C | CA362690747 | DSP | c.5089A>C (p.Ser1697Arg) c.6418A>C (p.Ser2140Arg) c.4621A>C (p.Ser1541Arg) | |
| 6 | g.7583680A>G | CA362690748 | DSP | c.5089A>G (p.Ser1697Gly) c.6418A>G (p.Ser2140Gly) c.4621A>G (p.Ser1541Gly) | gnomAD v4 |
| 6 | g.7583680A>T | CA362690749 | DSP | c.5089A>T (p.Ser1697Cys) c.6418A>T (p.Ser2140Cys) c.4621A>T (p.Ser1541Cys) | |
| 6 | g.7583681G>A | CA362690751 | DSP | c.5090G>A (p.Ser1697Asn) c.6419G>A (p.Ser2140Asn) c.4622G>A (p.Ser1541Asn) | ClinVar dbSNP |
| 6 | g.7583681G>C | CA362690752 | DSP | c.5090G>C (p.Ser1697Thr) c.6419G>C (p.Ser2140Thr) c.4622G>C (p.Ser1541Thr) | |
| 6 | g.7583681G>T | CA362690750 | DSP | c.5090G>T (p.Ser1697Ile) c.6419G>T (p.Ser2140Ile) c.4622G>T (p.Ser1541Ile) | |
| 6 | g.7583682T>A | CA362690753 | DSP | c.5091T>A (p.Ser1697Arg) c.6420T>A (p.Ser2140Arg) c.4623T>A (p.Ser1541Arg) | |
| 6 | g.7583682T>C | CA448716349 | DSP | c.5091T>C (p.Ser1697=) c.6420T>C (p.Ser2140=) c.4623T>C (p.Ser1541=) | |
| 6 | g.7583682T>G | CA362690754 | DSP | c.5091T>G (p.Ser1697Arg) c.6420T>G (p.Ser2140Arg) c.4623T>G (p.Ser1541Arg) | |
| 6 | g.7583683G>A | CA362690755 | DSP | c.5092G>A (p.Val1698Ile) c.6421G>A (p.Val2141Ile) c.4624G>A (p.Val1542Ile) | |
| 6 | g.7583683G>C | CA362690756 | DSP | c.5092G>C (p.Val1698Leu) c.6421G>C (p.Val2141Leu) c.4624G>C (p.Val1542Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583683G= | CA1608608982 | DSP | c.5092G= (p.Val1698=) c.6421G= (p.Val2141=) c.4624G= (p.Val1542=) | |
| 6 | g.7583683G>T | CA362690757 | DSP | c.5092G>T (p.Val1698Phe) c.6421G>T (p.Val2141Phe) c.4624G>T (p.Val1542Phe) | |
| 6 | g.7583684T>A | CA362690758 | DSP | c.5093T>A (p.Val1698Asp) c.6422T>A (p.Val2141Asp) c.4625T>A (p.Val1542Asp) | |
| 6 | g.7583684T>C | CA362690759 | DSP | c.5093T>C (p.Val1698Ala) c.6422T>C (p.Val2141Ala) c.4625T>C (p.Val1542Ala) | dbSNP |
| 6 | g.7583684T>G | CA362690760 | DSP | c.5093T>G (p.Val1698Gly) c.6422T>G (p.Val2141Gly) c.4625T>G (p.Val1542Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583684T= | CA1608608983 | DSP | c.5093T= (p.Val1698=) c.6422T= (p.Val2141=) c.4625T= (p.Val1542=) | |
| 6 | g.7583684_7583686delinsCC | CA2695205955 | DSP | c.5093_5095delinsCC (p.Val1698AlafsTer13) c.6422_6424delinsCC (p.Val2141AlafsTer13) c.4625_4627delinsCC (p.Val1542AlafsTer13) |