| 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.7583336C>A | CA362690020 | DSP | c.4745C>A (p.Pro1582His) c.6074C>A (p.Pro2025His) c.4277C>A (p.Pro1426His) | |
| 6 | g.7583336C>G | CA362690021 | DSP | c.4745C>G (p.Pro1582Arg) c.6074C>G (p.Pro2025Arg) c.4277C>G (p.Pro1426Arg) | |
| 6 | g.7583336C>T | CA362690022 | DSP | c.4745C>T (p.Pro1582Leu) c.6074C>T (p.Pro2025Leu) c.4277C>T (p.Pro1426Leu) | |
| 6 | g.7583337T>A | CA448715706 | DSP | c.4746T>A (p.Pro1582=) c.6075T>A (p.Pro2025=) c.4278T>A (p.Pro1426=) | ClinVar dbSNP |
| 6 | g.7583337T>C | CA448715707 | DSP | c.4746T>C (p.Pro1582=) c.6075T>C (p.Pro2025=) c.4278T>C (p.Pro1426=) | |
| 6 | g.7583337T>G | CA448715708 | DSP | c.4746T>G (p.Pro1582=) c.6075T>G (p.Pro2025=) c.4278T>G (p.Pro1426=) | |
| 6 | g.7583338A>C | CA362690023 | DSP | c.4747A>C (p.Lys1583Gln) c.6076A>C (p.Lys2026Gln) c.4279A>C (p.Lys1427Gln) | |
| 6 | g.7583338A>G | CA362690024 | DSP | c.4747A>G (p.Lys1583Glu) c.6076A>G (p.Lys2026Glu) c.4279A>G (p.Lys1427Glu) | |
| 6 | g.7583338A>T | CA362690025 | DSP | c.4747A>T (p.Lys1583Ter) c.6076A>T (p.Lys2026Ter) c.4279A>T (p.Lys1427Ter) | |
| 6 | g.7583339A>C | CA362690026 | DSP | c.4748A>C (p.Lys1583Thr) c.6077A>C (p.Lys2026Thr) c.4280A>C (p.Lys1427Thr) | gnomAD v4 |
| 6 | g.7583339A>G | CA362690027 | DSP | c.4748A>G (p.Lys1583Arg) c.6077A>G (p.Lys2026Arg) c.4280A>G (p.Lys1427Arg) | |
| 6 | g.7583339A>T | CA362690028 | DSP | c.4748A>T (p.Lys1583Met) c.6077A>T (p.Lys2026Met) c.4280A>T (p.Lys1427Met) | |
| 6 | g.7583340G>A | CA448715714 | DSP | c.4749G>A (p.Lys1583=) c.6078G>A (p.Lys2026=) c.4281G>A (p.Lys1427=) | |
| 6 | g.7583340G>C | CA362690029 | DSP | c.4749G>C (p.Lys1583Asn) c.6078G>C (p.Lys2026Asn) c.4281G>C (p.Lys1427Asn) | |
| 6 | g.7583340G>T | CA362690030 | DSP | c.4749G>T (p.Lys1583Asn) c.6078G>T (p.Lys2026Asn) c.4281G>T (p.Lys1427Asn) | |
| 6 | g.7583341G>A | CA046828 | DSP | c.4750G>A (p.Glu1584Lys) c.6079G>A (p.Glu2027Lys) c.4282G>A (p.Glu1428Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583341G>C | CA362690032 | DSP | c.4750G>C (p.Glu1584Gln) c.6079G>C (p.Glu2027Gln) c.4282G>C (p.Glu1428Gln) | |
| 6 | g.7583341G= | CA1608607862 | DSP | c.4750G= (p.Glu1584=) c.6079G= (p.Glu2027=) c.4282G= (p.Glu1428=) | |
| 6 | g.7583341G>T | CA362690031 | DSP | c.4750G>T (p.Glu1584Ter) c.6079G>T (p.Glu2027Ter) c.4282G>T (p.Glu1428Ter) | |
| 6 | g.7583342A>C | CA362690033 | DSP | c.4751A>C (p.Glu1584Ala) c.6080A>C (p.Glu2027Ala) c.4283A>C (p.Glu1428Ala) | |
| 6 | g.7583342A>G | CA362690034 | DSP | c.4751A>G (p.Glu1584Gly) c.6080A>G (p.Glu2027Gly) c.4283A>G (p.Glu1428Gly) | |
| 6 | g.7583342A>T | CA362690035 | DSP | c.4751A>T (p.Glu1584Val) c.6080A>T (p.Glu2027Val) c.4283A>T (p.Glu1428Val) | |
| 6 | g.7583346dup | CA2573140816 | DSP | c.4755dup (p.Tyr1586IlefsTer?) c.6084dup (p.Tyr2029IlefsTer?) c.4287dup (p.Tyr1430IlefsTer?) | ClinVar dbSNP |
| 6 | g.7583343A>C | CA362690036 | DSP | c.4752A>C (p.Glu1584Asp) c.6081A>C (p.Glu2027Asp) c.4284A>C (p.Glu1428Asp) | |
| 6 | g.7583343A>G | CA448715717 | DSP | c.4752A>G (p.Glu1584=) c.6081A>G (p.Glu2027=) c.4284A>G (p.Glu1428=) | gnomAD v4 COSMIC |
| 6 | g.7583343A>T | CA362690037 | DSP | c.4752A>T (p.Glu1584Asp) c.6081A>T (p.Glu2027Asp) c.4284A>T (p.Glu1428Asp) | |
| 6 | g.7583344A>C | CA362690038 | DSP | c.4753A>C (p.Lys1585Gln) c.6082A>C (p.Lys2028Gln) c.4285A>C (p.Lys1429Gln) | |
| 6 | g.7583344A>G | CA362690039 | DSP | c.4753A>G (p.Lys1585Glu) c.6082A>G (p.Lys2028Glu) c.4285A>G (p.Lys1429Glu) | |
| 6 | g.7583344A>T | CA362690040 | DSP | c.4753A>T (p.Lys1585Ter) c.6082A>T (p.Lys2028Ter) c.4285A>T (p.Lys1429Ter) | |
| 6 | g.7583345A>C | CA362690041 | DSP | c.4754A>C (p.Lys1585Thr) c.6083A>C (p.Lys2028Thr) c.4286A>C (p.Lys1429Thr) | |
| 6 | g.7583345A>G | CA362690042 | DSP | c.4754A>G (p.Lys1585Arg) c.6083A>G (p.Lys2028Arg) c.4286A>G (p.Lys1429Arg) | |
| 6 | g.7583345A>T | CA362690043 | DSP | c.4754A>T (p.Lys1585Ile) c.6083A>T (p.Lys2028Ile) c.4286A>T (p.Lys1429Ile) | |
| 6 | g.7583346A>C | CA362690044 | DSP | c.4755A>C (p.Lys1585Asn) c.6084A>C (p.Lys2028Asn) c.4287A>C (p.Lys1429Asn) | |
| 6 | g.7583346A>G | CA448715722 | DSP | c.4755A>G (p.Lys1585=) c.6084A>G (p.Lys2028=) c.4287A>G (p.Lys1429=) | ClinVar dbSNP COSMIC |
| 6 | g.7583346A>T | CA362690045 | DSP | c.4755A>T (p.Lys1585Asn) c.6084A>T (p.Lys2028Asn) c.4287A>T (p.Lys1429Asn) | |
| 6 | g.7583347T>A | CA046842 | DSP | c.4756T>A (p.Tyr1586Asn) c.6085T>A (p.Tyr2029Asn) c.4288T>A (p.Tyr1430Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583347T>C | CA362690047 | DSP | c.4756T>C (p.Tyr1586His) c.6085T>C (p.Tyr2029His) c.4288T>C (p.Tyr1430His) | ClinVar dbSNP |
| 6 | g.7583347T>G | CA362690046 | DSP | c.4756T>G (p.Tyr1586Asp) c.6085T>G (p.Tyr2029Asp) c.4288T>G (p.Tyr1430Asp) | |
| 6 | g.7583347T= | CA1608607867 | DSP | c.4756T= (p.Tyr1586=) c.6085T= (p.Tyr2029=) c.4288T= (p.Tyr1430=) | |
| 6 | g.7583347dup | CA2580075533 | DSP | c.4756dup (p.Tyr1586LeufsTer?) c.6085dup (p.Tyr2029LeufsTer?) c.4288dup (p.Tyr1430LeufsTer?) | ClinVar |
| 6 | g.7583348A= | CA1608607873 | DSP | c.4757A= (p.Tyr1586=) c.6086A= (p.Tyr2029=) c.4289A= (p.Tyr1430=) | |
| 6 | g.7583348A>C | CA362690048 | DSP | c.4757A>C (p.Tyr1586Ser) c.6086A>C (p.Tyr2029Ser) c.4289A>C (p.Tyr1430Ser) | |
| 6 | g.7583348A>G | CA046855 | DSP | c.4757A>G (p.Tyr1586Cys) c.6086A>G (p.Tyr2029Cys) c.4289A>G (p.Tyr1430Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583348A>T | CA362690049 | DSP | c.4757A>T (p.Tyr1586Phe) c.6086A>T (p.Tyr2029Phe) c.4289A>T (p.Tyr1430Phe) | |
| 6 | g.7583349C>A | CA362690050 | DSP | c.4758C>A (p.Tyr1586Ter) c.6087C>A (p.Tyr2029Ter) c.4290C>A (p.Tyr1430Ter) | |
| 6 | g.7583349C>G | CA362690051 | DSP | c.4758C>G (p.Tyr1586Ter) c.6087C>G (p.Tyr2029Ter) c.4290C>G (p.Tyr1430Ter) | |
| 6 | g.7583349C>T | CA448715729 | DSP | c.4758C>T (p.Tyr1586=) c.6087C>T (p.Tyr2029=) c.4290C>T (p.Tyr1430=) | COSMIC |
| 6 | g.7583350T>A | CA362690052 | DSP | c.4759T>A (p.Ser1587Thr) c.6088T>A (p.Ser2030Thr) c.4291T>A (p.Ser1431Thr) | |
| 6 | g.7583350T>C | CA362690053 | DSP | c.4759T>C (p.Ser1587Pro) c.6088T>C (p.Ser2030Pro) c.4291T>C (p.Ser1431Pro) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583350T>G | CA362690054 | DSP | c.4759T>G (p.Ser1587Ala) c.6088T>G (p.Ser2030Ala) c.4291T>G (p.Ser1431Ala) | |
| 6 | g.7583350T= | CA1608607880 | DSP | c.4759T= (p.Ser1587=) c.6088T= (p.Ser2030=) c.4291T= (p.Ser1431=) | |
| 6 | g.7583351C>A | CA362690055 | DSP | c.4760C>A (p.Ser1587Tyr) c.6089C>A (p.Ser2030Tyr) c.4292C>A (p.Ser1431Tyr) | ClinVar dbSNP |
| 6 | g.7583351C= | CA1608607889 | DSP | c.4760C= (p.Ser1587=) c.6089C= (p.Ser2030=) c.4292C= (p.Ser1431=) | |
| 6 | g.7583351C>G | CA362690056 | DSP | c.4760C>G (p.Ser1587Cys) c.6089C>G (p.Ser2030Cys) c.4292C>G (p.Ser1431Cys) | dbSNP gnomAD v4 |
| 6 | g.7583351C>T | CA133974313 | DSP | c.4760C>T (p.Ser1587Phe) c.6089C>T (p.Ser2030Phe) c.4292C>T (p.Ser1431Phe) | dbSNP gnomAD v4 |
| 6 | g.7583351_7583353delinsCTT | CA1608607886 | DSP | c.4760_4762delinsCTT (p.Ser1587=) c.6089_6091delinsCTT (p.Ser2030=) c.4292_4294delinsCTT (p.Ser1431=) | |
| 6 | g.7583352T>A | CA448715734 | DSP | c.4761T>A (p.Ser1587=) c.6090T>A (p.Ser2030=) c.4293T>A (p.Ser1431=) | ClinVar |
| 6 | g.7583352T>C | CA448715735 | DSP | c.4761T>C (p.Ser1587=) c.6090T>C (p.Ser2030=) c.4293T>C (p.Ser1431=) | gnomAD v4 |
| 6 | g.7583352T>G | CA448715736 | DSP | c.4761T>G (p.Ser1587=) c.6090T>G (p.Ser2030=) c.4293T>G (p.Ser1431=) | |
| 6 | g.7583353_7583354del | CA006713 | DSP | c.4762_4763del (p.Leu1588GlyfsTer29) c.6091_6092del (p.Leu2031GlyfsTer29) c.4294_4295del (p.Leu1432GlyfsTer29) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583353T>A | CA362690057 | DSP | c.4762T>A (p.Leu1588Met) c.6091T>A (p.Leu2031Met) c.4294T>A (p.Leu1432Met) | |
| 6 | g.7583353T>C | CA448715738 | DSP | c.4762T>C (p.Leu1588=) c.6091T>C (p.Leu2031=) c.4294T>C (p.Leu1432=) | |
| 6 | g.7583353T>G | CA362690058 | DSP | c.4762T>G (p.Leu1588Val) c.6091T>G (p.Leu2031Val) c.4294T>G (p.Leu1432Val) | |
| 6 | g.7583354T>A | CA362690059 | DSP | c.4763T>A (p.Leu1588Ter) c.6092T>A (p.Leu2031Ter) c.4295T>A (p.Leu1432Ter) | |
| 6 | g.7583354T>C | CA046870 | DSP | c.4763T>C (p.Leu1588Ser) c.6092T>C (p.Leu2031Ser) c.4295T>C (p.Leu1432Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583354T>G | CA362690060 | DSP | c.4763T>G (p.Leu1588Trp) c.6092T>G (p.Leu2031Trp) c.4295T>G (p.Leu1432Trp) | |
| 6 | g.7583354T= | CA1608607900 | DSP | c.4763T= (p.Leu1588=) c.6092T= (p.Leu2031=) c.4295T= (p.Leu1432=) | |
| 6 | g.7583355G>A | CA448715742 | DSP | c.4764G>A (p.Leu1588=) c.6093G>A (p.Leu2031=) c.4296G>A (p.Leu1432=) | |
| 6 | g.7583355G>C | CA362690061 | DSP | c.4764G>C (p.Leu1588Phe) c.6093G>C (p.Leu2031Phe) c.4296G>C (p.Leu1432Phe) | |
| 6 | g.7583355G>T | CA362690062 | DSP | c.4764G>T (p.Leu1588Phe) c.6093G>T (p.Leu2031Phe) c.4296G>T (p.Leu1432Phe) | |
| 6 | g.7583356G>A | CA133974330 | DSP | c.4765G>A (p.Val1589Ile) c.6094G>A (p.Val2032Ile) c.4297G>A (p.Val1433Ile) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7583356G>C | CA362690063 | DSP | c.4765G>C (p.Val1589Leu) c.6094G>C (p.Val2032Leu) c.4297G>C (p.Val1433Leu) | |
| 6 | g.7583356G= | CA1608607906 | DSP | c.4765G= (p.Val1589=) c.6094G= (p.Val2032=) c.4297G= (p.Val1433=) | |
| 6 | g.7583356G>T | CA362690064 | DSP | c.4765G>T (p.Val1589Leu) c.6094G>T (p.Val2032Leu) c.4297G>T (p.Val1433Leu) | |
| 6 | g.7583357T>A | CA362690065 | DSP | c.4766T>A (p.Val1589Glu) c.6095T>A (p.Val2032Glu) c.4298T>A (p.Val1433Glu) | |
| 6 | g.7583357T>C | CA362690066 | DSP | c.4766T>C (p.Val1589Ala) c.6095T>C (p.Val2032Ala) c.4298T>C (p.Val1433Ala) | |
| 6 | g.7583357T>G | CA362690067 | DSP | c.4766T>G (p.Val1589Gly) c.6095T>G (p.Val2032Gly) c.4298T>G (p.Val1433Gly) | |
| 6 | g.7583358A>C | CA448715747 | DSP | c.4767A>C (p.Val1589=) c.6096A>C (p.Val2032=) c.4299A>C (p.Val1433=) | |
| 6 | g.7583358A>G | CA448715748 | DSP | c.4767A>G (p.Val1589=) c.6096A>G (p.Val2032=) c.4299A>G (p.Val1433=) | ClinVar |
| 6 | g.7583358A>T | CA448715749 | DSP | c.4767A>T (p.Val1589=) c.6096A>T (p.Val2032=) c.4299A>T (p.Val1433=) | |
| 6 | g.7583359G>A | CA046883 | DSP | c.4768G>A (p.Glu1590Lys) c.6097G>A (p.Glu2033Lys) c.4300G>A (p.Glu1434Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583359G>C | CA362690069 | DSP | c.4768G>C (p.Glu1590Gln) c.6097G>C (p.Glu2033Gln) c.4300G>C (p.Glu1434Gln) | |
| 6 | g.7583359G= | CA1608607913 | DSP | c.4768G= (p.Glu1590=) c.6097G= (p.Glu2033=) c.4300G= (p.Glu1434=) | |
| 6 | g.7583359G>T | CA362690068 | DSP | c.4768G>T (p.Glu1590Ter) c.6097G>T (p.Glu2033Ter) c.4300G>T (p.Glu1434Ter) | |
| 6 | g.7583360A>C | CA362690070 | DSP | c.4769A>C (p.Glu1590Ala) c.6098A>C (p.Glu2033Ala) c.4301A>C (p.Glu1434Ala) | |
| 6 | g.7583360A>G | CA362690071 | DSP | c.4769A>G (p.Glu1590Gly) c.6098A>G (p.Glu2033Gly) c.4301A>G (p.Glu1434Gly) | |
| 6 | g.7583360A>T | CA362690072 | DSP | c.4769A>T (p.Glu1590Val) c.6098A>T (p.Glu2033Val) c.4301A>T (p.Glu1434Val) | |
| 6 | g.7583361G>A | CA448715757 | DSP | c.4770G>A (p.Glu1590=) c.6099G>A (p.Glu2033=) c.4302G>A (p.Glu1434=) | ClinVar gnomAD v4 |
| 6 | g.7583361G>C | CA362690073 | DSP | c.4770G>C (p.Glu1590Asp) c.6099G>C (p.Glu2033Asp) c.4302G>C (p.Glu1434Asp) | |
| 6 | g.7583361G>T | CA362690074 | DSP | c.4770G>T (p.Glu1590Asp) c.6099G>T (p.Glu2033Asp) c.4302G>T (p.Glu1434Asp) | |
| 6 | g.7583362G>A | CA133974331 | DSP | c.4771G>A (p.Ala1591Thr) c.6100G>A (p.Ala2034Thr) c.4303G>A (p.Ala1435Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583362G>C | CA362690076 | DSP | c.4771G>C (p.Ala1591Pro) c.6100G>C (p.Ala2034Pro) c.4303G>C (p.Ala1435Pro) | |
| 6 | g.7583362G= | CA1608607915 | DSP | c.4771G= (p.Ala1591=) c.6100G= (p.Ala2034=) c.4303G= (p.Ala1435=) | |
| 6 | g.7583362G>T | CA362690075 | DSP | c.4771G>T (p.Ala1591Ser) c.6100G>T (p.Ala2034Ser) c.4303G>T (p.Ala1435Ser) | |
| 6 | g.7583363C>A | CA362690077 | DSP | c.4772C>A (p.Ala1591Asp) c.6101C>A (p.Ala2034Asp) c.4304C>A (p.Ala1435Asp) | |
| 6 | g.7583363C>G | CA362690078 | DSP | c.4772C>G (p.Ala1591Gly) c.6101C>G (p.Ala2034Gly) c.4304C>G (p.Ala1435Gly) | gnomAD v4 |
| 6 | g.7583363C>T | CA362690079 | DSP | c.4772C>T (p.Ala1591Val) c.6101C>T (p.Ala2034Val) c.4304C>T (p.Ala1435Val) | |
| 6 | g.7583364C>A | CA448715763 | DSP | c.4773C>A (p.Ala1591=) c.6102C>A (p.Ala2034=) c.4305C>A (p.Ala1435=) | |
| 6 | g.7583364C>G | CA448715762 | DSP | c.4773C>G (p.Ala1591=) c.6102C>G (p.Ala2034=) c.4305C>G (p.Ala1435=) | |
| 6 | g.7583364C>T | CA448715760 | DSP | c.4773C>T (p.Ala1591=) c.6102C>T (p.Ala2034=) c.4305C>T (p.Ala1435=) | |
| 6 | g.7583365A= | CA1608607921 | DSP | c.4774A= (p.Lys1592=) c.6103A= (p.Lys2035=) c.4306A= (p.Lys1436=) | |
| 6 | g.7583365A>C | CA362690080 | DSP | c.4774A>C (p.Lys1592Gln) c.6103A>C (p.Lys2035Gln) c.4306A>C (p.Lys1436Gln) | |
| 6 | g.7583365A>G | CA362690081 | DSP | c.4774A>G (p.Lys1592Glu) c.6103A>G (p.Lys2035Glu) c.4306A>G (p.Lys1436Glu) | dbSNP |
| 6 | g.7583365A>T | CA362690082 | DSP | c.4774A>T (p.Lys1592Ter) c.6103A>T (p.Lys2035Ter) c.4306A>T (p.Lys1436Ter) | |
| 6 | g.7583366A>C | CA362690083 | DSP | c.4775A>C (p.Lys1592Thr) c.6104A>C (p.Lys2035Thr) c.4307A>C (p.Lys1436Thr) | ClinVar |
| 6 | g.7583366A>G | CA362690084 | DSP | c.4775A>G (p.Lys1592Arg) c.6104A>G (p.Lys2035Arg) c.4307A>G (p.Lys1436Arg) | |
| 6 | g.7583366A>T | CA362690085 | DSP | c.4775A>T (p.Lys1592Met) c.6104A>T (p.Lys2035Met) c.4307A>T (p.Lys1436Met) | |
| 6 | g.7583367G>A | CA448715766 | DSP | c.4776G>A (p.Lys1592=) c.6105G>A (p.Lys2035=) c.4308G>A (p.Lys1436=) | ClinVar dbSNP |
| 6 | g.7583367G>C | CA362690086 | DSP | c.4776G>C (p.Lys1592Asn) c.6105G>C (p.Lys2035Asn) c.4308G>C (p.Lys1436Asn) | |
| 6 | g.7583367G>T | CA362690087 | DSP | c.4776G>T (p.Lys1592Asn) c.6105G>T (p.Lys2035Asn) c.4308G>T (p.Lys1436Asn) | |
| 6 | g.7583368A>C | CA448715768 | DSP | c.4777A>C (p.Arg1593=) c.6106A>C (p.Arg2036=) c.4309A>C (p.Arg1437=) | |
| 6 | g.7583368A>G | CA362690088 | DSP | c.4777A>G (p.Arg1593Gly) c.6106A>G (p.Arg2036Gly) c.4309A>G (p.Arg1437Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583368A>T | CA362690089 | DSP | c.4777A>T (p.Arg1593Ter) c.6106A>T (p.Arg2036Ter) c.4309A>T (p.Arg1437Ter) | |
| 6 | g.7583369G>A | CA362690090 | DSP | c.4778G>A (p.Arg1593Lys) c.6107G>A (p.Arg2036Lys) c.4310G>A (p.Arg1437Lys) | |
| 6 | g.7583369G>C | CA362690092 | DSP | c.4778G>C (p.Arg1593Thr) c.6107G>C (p.Arg2036Thr) c.4310G>C (p.Arg1437Thr) | |
| 6 | g.7583369G>T | CA362690091 | DSP | c.4778G>T (p.Arg1593Ile) c.6107G>T (p.Arg2036Ile) c.4310G>T (p.Arg1437Ile) | |
| 6 | g.7583370A>C | CA362690093 | DSP | c.4779A>C (p.Arg1593Ser) c.6108A>C (p.Arg2036Ser) c.4311A>C (p.Arg1437Ser) | |
| 6 | g.7583370A>G | CA448715771 | DSP | c.4779A>G (p.Arg1593=) c.6108A>G (p.Arg2036=) c.4311A>G (p.Arg1437=) | |
| 6 | g.7583370A>T | CA362690094 | DSP | c.4779A>T (p.Arg1593Ser) c.6108A>T (p.Arg2036Ser) c.4311A>T (p.Arg1437Ser) | |
| 6 | g.7583371A>C | CA362690095 | DSP | c.4780A>C (p.Lys1594Gln) c.6109A>C (p.Lys2037Gln) c.4312A>C (p.Lys1438Gln) | |
| 6 | g.7583371A>G | CA362690096 | DSP | c.4780A>G (p.Lys1594Glu) c.6109A>G (p.Lys2037Glu) c.4312A>G (p.Lys1438Glu) | |
| 6 | g.7583371A>T | CA362690097 | DSP | c.4780A>T (p.Lys1594Ter) c.6109A>T (p.Lys2037Ter) c.4312A>T (p.Lys1438Ter) | |
| 6 | g.7583372A>C | CA362690098 | DSP | c.4781A>C (p.Lys1594Thr) c.6110A>C (p.Lys2037Thr) c.4313A>C (p.Lys1438Thr) | |
| 6 | g.7583372A>G | CA362690099 | DSP | c.4781A>G (p.Lys1594Arg) c.6110A>G (p.Lys2037Arg) c.4313A>G (p.Lys1438Arg) | |
| 6 | g.7583372A>T | CA362690100 | DSP | c.4781A>T (p.Lys1594Met) c.6110A>T (p.Lys2037Met) c.4313A>T (p.Lys1438Met) | |
| 6 | g.7583373G>A | CA448715773 | DSP | c.4782G>A (p.Lys1594=) c.6111G>A (p.Lys2037=) c.4314G>A (p.Lys1438=) | |
| 6 | g.7583373G>C | CA362690101 | DSP | c.4782G>C (p.Lys1594Asn) c.6111G>C (p.Lys2037Asn) c.4314G>C (p.Lys1438Asn) | |
| 6 | g.7583373G>T | CA362690102 | DSP | c.4782G>T (p.Lys1594Asn) c.6111G>T (p.Lys2037Asn) c.4314G>T (p.Lys1438Asn) | dbSNP |
| 6 | g.7583374A= | CA1608607930 | DSP | c.4783A= (p.Lys1595=) c.6112A= (p.Lys2038=) c.4315A= (p.Lys1439=) | |
| 6 | g.7583374A>C | CA046904 | DSP | c.4783A>C (p.Lys1595Gln) c.6112A>C (p.Lys2038Gln) c.4315A>C (p.Lys1439Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583374A>G | CA362690103 | DSP | c.4783A>G (p.Lys1595Glu) c.6112A>G (p.Lys2038Glu) c.4315A>G (p.Lys1439Glu) | COSMIC |
| 6 | g.7583374A>T | CA362690104 | DSP | c.4783A>T (p.Lys1595Ter) c.6112A>T (p.Lys2038Ter) c.4315A>T (p.Lys1439Ter) | |
| 6 | g.7583375A>C | CA362690106 | DSP | c.4784A>C (p.Lys1595Thr) c.6113A>C (p.Lys2038Thr) c.4316A>C (p.Lys1439Thr) | |
| 6 | g.7583375A>G | CA362690107 | DSP | c.4784A>G (p.Lys1595Arg) c.6113A>G (p.Lys2038Arg) c.4316A>G (p.Lys1439Arg) | |
| 6 | g.7583375A>T | CA362690105 | DSP | c.4784A>T (p.Lys1595Ile) c.6113A>T (p.Lys2038Ile) c.4316A>T (p.Lys1439Ile) | |
| 6 | g.7583376A>C | CA362690108 | DSP | c.4785A>C (p.Lys1595Asn) c.6114A>C (p.Lys2038Asn) c.4317A>C (p.Lys1439Asn) | |
| 6 | g.7583376A>G | CA448715777 | DSP | c.4785A>G (p.Lys1595=) c.6114A>G (p.Lys2038=) c.4317A>G (p.Lys1439=) | COSMIC |
| 6 | g.7583376A>T | CA362690109 | DSP | c.4785A>T (p.Lys1595Asn) c.6114A>T (p.Lys2038Asn) c.4317A>T (p.Lys1439Asn) | |
| 6 | g.7583377T>A | CA362690110 | DSP | c.4786T>A (p.Leu1596Ile) c.6115T>A (p.Leu2039Ile) c.4318T>A (p.Leu1440Ile) | |
| 6 | g.7583377T>C | CA448715779 | DSP | c.4786T>C (p.Leu1596=) c.6115T>C (p.Leu2039=) c.4318T>C (p.Leu1440=) | |
| 6 | g.7583377T>G | CA362690111 | DSP | c.4786T>G (p.Leu1596Val) c.6115T>G (p.Leu2039Val) c.4318T>G (p.Leu1440Val) | |
| 6 | g.7583378T>A | CA362690114 | DSP | c.4787T>A (p.Leu1596Ter) c.6116T>A (p.Leu2039Ter) c.4319T>A (p.Leu1440Ter) | |
| 6 | g.7583378T>C | CA362690113 | DSP | c.4787T>C (p.Leu1596Ser) c.6116T>C (p.Leu2039Ser) c.4319T>C (p.Leu1440Ser) | |
| 6 | g.7583378T>G | CA362690112 | DSP | c.4787T>G (p.Leu1596Ter) c.6116T>G (p.Leu2039Ter) c.4319T>G (p.Leu1440Ter) | gnomAD v4 |
| 6 | g.7583379A= | CA1608607944 | DSP | c.4788A= (p.Leu1596=) c.6117A= (p.Leu2039=) c.4320A= (p.Leu1440=) | |
| 6 | g.7583379A>C | CA362690115 | DSP | c.4788A>C (p.Leu1596Phe) c.6117A>C (p.Leu2039Phe) c.4320A>C (p.Leu1440Phe) | |
| 6 | g.7583379A>G | CA133974341 | DSP | c.4788A>G (p.Leu1596=) c.6117A>G (p.Leu2039=) c.4320A>G (p.Leu1440=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583379A>T | CA046918 | DSP | c.4788A>T (p.Leu1596Phe) c.6117A>T (p.Leu2039Phe) c.4320A>T (p.Leu1440Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583380_7583383del | CA2695205954 | DSP | c.4789_4792del (p.Ile1597AlafsTer18) c.6118_6121del (p.Ile2040AlafsTer18) c.4321_4324del (p.Ile1441AlafsTer18) | |
| 6 | g.7583380A>C | CA362690116 | DSP | c.4789A>C (p.Ile1597Leu) c.6118A>C (p.Ile2040Leu) c.4321A>C (p.Ile1441Leu) | |
| 6 | g.7583380A>G | CA362690117 | DSP | c.4789A>G (p.Ile1597Val) c.6118A>G (p.Ile2040Val) c.4321A>G (p.Ile1441Val) | ClinVar gnomAD v4 |
| 6 | g.7583380A>T | CA362690118 | DSP | c.4789A>T (p.Ile1597Phe) c.6118A>T (p.Ile2040Phe) c.4321A>T (p.Ile1441Phe) | |
| 6 | g.7583381T>A | CA362690119 | DSP | c.4790T>A (p.Ile1597Asn) c.6119T>A (p.Ile2040Asn) c.4322T>A (p.Ile1441Asn) | |
| 6 | g.7583381T>C | CA362690120 | DSP | c.4790T>C (p.Ile1597Thr) c.6119T>C (p.Ile2040Thr) c.4322T>C (p.Ile1441Thr) | |
| 6 | g.7583381T>G | CA046928 | DSP | c.4790T>G (p.Ile1597Ser) c.6119T>G (p.Ile2040Ser) c.4322T>G (p.Ile1441Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583381T= | CA1608607950 | DSP | c.4790T= (p.Ile1597=) c.6119T= (p.Ile2040=) c.4322T= (p.Ile1441=) | |
| 6 | g.7583382C>A | CA448715785 | DSP | c.4791C>A (p.Ile1597=) c.6120C>A (p.Ile2040=) c.4323C>A (p.Ile1441=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583382C= | CA1608607955 | DSP | c.4791C= (p.Ile1597=) c.6120C= (p.Ile2040=) c.4323C= (p.Ile1441=) | |
| 6 | g.7583382C>G | CA362690121 | DSP | c.4791C>G (p.Ile1597Met) c.6120C>G (p.Ile2040Met) c.4323C>G (p.Ile1441Met) | |
| 6 | g.7583382C>T | CA448715786 | DSP | c.4791C>T (p.Ile1597=) c.6120C>T (p.Ile2040=) c.4323C>T (p.Ile1441=) | ClinVar |
| 6 | g.7583383A= | CA1608607956 | DSP | c.4792A= (p.Ser1598=) c.6121A= (p.Ser2041=) c.4324A= (p.Ser1442=) | |
| 6 | g.7583383A>C | CA362690124 | DSP | c.4792A>C (p.Ser1598Arg) c.6121A>C (p.Ser2041Arg) c.4324A>C (p.Ser1442Arg) | dbSNP |
| 6 | g.7583383A>G | CA362690122 | DSP | c.4792A>G (p.Ser1598Gly) c.6121A>G (p.Ser2041Gly) c.4324A>G (p.Ser1442Gly) | |
| 6 | g.7583383A>T | CA362690123 | DSP | c.4792A>T (p.Ser1598Cys) c.6121A>T (p.Ser2041Cys) c.4324A>T (p.Ser1442Cys) | |
| 6 | g.7583384G>A | CA362690125 | DSP | c.4793G>A (p.Ser1598Asn) c.6122G>A (p.Ser2041Asn) c.4325G>A (p.Ser1442Asn) | COSMIC |
| 6 | g.7583384G>C | CA362690126 | DSP | c.4793G>C (p.Ser1598Thr) c.6122G>C (p.Ser2041Thr) c.4325G>C (p.Ser1442Thr) | gnomAD v4 |
| 6 | g.7583384G>T | CA362690127 | DSP | c.4793G>T (p.Ser1598Ile) c.6122G>T (p.Ser2041Ile) c.4325G>T (p.Ser1442Ile) | |
| 6 | g.7583385C>A | CA362690128 | DSP | c.4794C>A (p.Ser1598Arg) c.6123C>A (p.Ser2041Arg) c.4326C>A (p.Ser1442Arg) | |
| 6 | g.7583385C>G | CA362690129 | DSP | c.4794C>G (p.Ser1598Arg) c.6123C>G (p.Ser2041Arg) c.4326C>G (p.Ser1442Arg) | |
| 6 | g.7583385C>T | CA448715788 | DSP | c.4794C>T (p.Ser1598=) c.6123C>T (p.Ser2041=) c.4326C>T (p.Ser1442=) | |
| 6 | g.7583386C>A | CA362690130 | DSP | c.4795C>A (p.Pro1599Thr) c.6124C>A (p.Pro2042Thr) c.4327C>A (p.Pro1443Thr) | |
| 6 | g.7583386C= | CA1608607961 | DSP | c.4795C= (p.Pro1599=) c.6124C= (p.Pro2042=) c.4327C= (p.Pro1443=) | |
| 6 | g.7583386C>G | CA133974362 | DSP | c.4795C>G (p.Pro1599Ala) c.6124C>G (p.Pro2042Ala) c.4327C>G (p.Pro1443Ala) | dbSNP |
| 6 | g.7583386C>T | CA362690131 | DSP | c.4795C>T (p.Pro1599Ser) c.6124C>T (p.Pro2042Ser) c.4327C>T (p.Pro1443Ser) | ClinVar dbSNP |
| 6 | g.7583387C>A | CA362690132 | DSP | c.4796C>A (p.Pro1599Gln) c.6125C>A (p.Pro2042Gln) c.4328C>A (p.Pro1443Gln) | |
| 6 | g.7583387C>G | CA362690133 | DSP | c.4796C>G (p.Pro1599Arg) c.6125C>G (p.Pro2042Arg) c.4328C>G (p.Pro1443Arg) | |
| 6 | g.7583387C>T | CA362690134 | DSP | c.4796C>T (p.Pro1599Leu) c.6125C>T (p.Pro2042Leu) c.4328C>T (p.Pro1443Leu) | |
| 6 | g.7583388A>C | CA448715790 | DSP | c.4797A>C (p.Pro1599=) c.6126A>C (p.Pro2042=) c.4329A>C (p.Pro1443=) | |
| 6 | g.7583388A>G | CA448715791 | DSP | c.4797A>G (p.Pro1599=) c.6126A>G (p.Pro2042=) c.4329A>G (p.Pro1443=) | COSMIC |
| 6 | g.7583388A>T | CA448715792 | DSP | c.4797A>T (p.Pro1599=) c.6126A>T (p.Pro2042=) c.4329A>T (p.Pro1443=) | |
| 6 | g.7583389G>A | CA362690135 | DSP | c.4798G>A (p.Glu1600Lys) c.6127G>A (p.Glu2043Lys) c.4330G>A (p.Glu1444Lys) | |
| 6 | g.7583389G>C | CA362690137 | DSP | c.4798G>C (p.Glu1600Gln) c.6127G>C (p.Glu2043Gln) c.4330G>C (p.Glu1444Gln) | gnomAD v4 |
| 6 | g.7583389G>T | CA362690136 | DSP | c.4798G>T (p.Glu1600Ter) c.6127G>T (p.Glu2043Ter) c.4330G>T (p.Glu1444Ter) | |
| 6 | g.7583390A>C | CA362690138 | DSP | c.4799A>C (p.Glu1600Ala) c.6128A>C (p.Glu2043Ala) c.4331A>C (p.Glu1444Ala) | |
| 6 | g.7583390A>G | CA362690139 | DSP | c.4799A>G (p.Glu1600Gly) c.6128A>G (p.Glu2043Gly) c.4331A>G (p.Glu1444Gly) | |
| 6 | g.7583390A>T | CA362690140 | DSP | c.4799A>T (p.Glu1600Val) c.6128A>T (p.Glu2043Val) c.4331A>T (p.Glu1444Val) | |
| 6 | g.7583391A>C | CA362690141 | DSP | c.4800A>C (p.Glu1600Asp) c.6129A>C (p.Glu2043Asp) c.4332A>C (p.Glu1444Asp) | |
| 6 | g.7583391A>G | CA448715795 | DSP | c.4800A>G (p.Glu1600=) c.6129A>G (p.Glu2043=) c.4332A>G (p.Glu1444=) | |
| 6 | g.7583391A>T | CA362690142 | DSP | c.4800A>T (p.Glu1600Asp) c.6129A>T (p.Glu2043Asp) c.4332A>T (p.Glu1444Asp) | |
| 6 | g.7583392T>A | CA362690143 | DSP | c.4801T>A (p.Ser1601Thr) c.6130T>A (p.Ser2044Thr) c.4333T>A (p.Ser1445Thr) | |
| 6 | g.7583392T>C | CA362690144 | DSP | c.4801T>C (p.Ser1601Pro) c.6130T>C (p.Ser2044Pro) c.4333T>C (p.Ser1445Pro) | dbSNP |
| 6 | g.7583392T>G | CA362690145 | DSP | c.4801T>G (p.Ser1601Ala) c.6130T>G (p.Ser2044Ala) c.4333T>G (p.Ser1445Ala) | |
| 6 | g.7583392T= | CA1608607965 | DSP | c.4801T= (p.Ser1601=) c.6130T= (p.Ser2044=) c.4333T= (p.Ser1445=) | |
| 6 | g.7583393C>A | CA362690146 | DSP | c.4802C>A (p.Ser1601Tyr) c.6131C>A (p.Ser2044Tyr) c.4334C>A (p.Ser1445Tyr) | |
| 6 | g.7583393C= | CA1608607971 | DSP | c.4802C= (p.Ser1601=) c.6131C= (p.Ser2044=) c.4334C= (p.Ser1445=) | |
| 6 | g.7583393C>G | CA362690147 | DSP | c.4802C>G (p.Ser1601Cys) c.6131C>G (p.Ser2044Cys) c.4334C>G (p.Ser1445Cys) | |
| 6 | g.7583393C>T | CA362690148 | DSP | c.4802C>T (p.Ser1601Phe) c.6131C>T (p.Ser2044Phe) c.4334C>T (p.Ser1445Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583394C>A | CA448715799 | DSP | c.4803C>A (p.Ser1601=) c.6132C>A (p.Ser2044=) c.4335C>A (p.Ser1445=) | |
| 6 | g.7583394C>G | CA448715800 | DSP | c.4803C>G (p.Ser1601=) c.6132C>G (p.Ser2044=) c.4335C>G (p.Ser1445=) | gnomAD v4 |
| 6 | g.7583394C>T | CA448715801 | DSP | c.4803C>T (p.Ser1601=) c.6132C>T (p.Ser2044=) c.4335C>T (p.Ser1445=) | COSMIC |
| 6 | g.7583396_7583397del | CA2677235480 | DSP | c.4805_4806del (p.Thr1602SerfsTer15) c.6134_6135del (p.Thr2045SerfsTer15) c.4337_4338del (p.Thr1446SerfsTer15) | gnomAD v4 |
| 6 | g.7583395A>C | CA362690150 | DSP | c.4804A>C (p.Thr1602Pro) c.6133A>C (p.Thr2045Pro) c.4336A>C (p.Thr1446Pro) | |
| 6 | g.7583395A>G | CA362690151 | DSP | c.4804A>G (p.Thr1602Ala) c.6133A>G (p.Thr2045Ala) c.4336A>G (p.Thr1446Ala) | |
| 6 | g.7583395A>T | CA362690149 | DSP | c.4804A>T (p.Thr1602Ser) c.6133A>T (p.Thr2045Ser) c.4336A>T (p.Thr1446Ser) | |
| 6 | g.7583396C>A | CA362690152 | DSP | c.4805C>A (p.Thr1602Lys) c.6134C>A (p.Thr2045Lys) c.4337C>A (p.Thr1446Lys) | |
| 6 | g.7583396C= | CA1608607976 | DSP | c.4805C= (p.Thr1602=) c.6134C= (p.Thr2045=) c.4337C= (p.Thr1446=) | |
| 6 | g.7583396C>G | CA362690153 | DSP | c.4805C>G (p.Thr1602Arg) c.6134C>G (p.Thr2045Arg) c.4337C>G (p.Thr1446Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583396C>T | CA362690154 | DSP | c.4805C>T (p.Thr1602Ile) c.6134C>T (p.Thr2045Ile) c.4337C>T (p.Thr1446Ile) | |
| 6 | g.7583397A>C | CA448715803 | DSP | c.4806A>C (p.Thr1602=) c.6135A>C (p.Thr2045=) c.4338A>C (p.Thr1446=) | |
| 6 | g.7583397A>G | CA448715805 | DSP | c.4806A>G (p.Thr1602=) c.6135A>G (p.Thr2045=) c.4338A>G (p.Thr1446=) | |
| 6 | g.7583397A>T | CA448715804 | DSP | c.4806A>T (p.Thr1602=) c.6135A>T (p.Thr2045=) c.4338A>T (p.Thr1446=) | |
| 6 | g.7583398G>A | CA362690155 | DSP | c.4807G>A (p.Val1603Ile) c.6136G>A (p.Val2046Ile) c.4339G>A (p.Val1447Ile) | COSMIC |
| 6 | g.7583398G>C | CA362690156 | DSP | c.4807G>C (p.Val1603Leu) c.6136G>C (p.Val2046Leu) c.4339G>C (p.Val1447Leu) | |
| 6 | g.7583398G>T | CA362690157 | DSP | c.4807G>T (p.Val1603Phe) c.6136G>T (p.Val2046Phe) c.4339G>T (p.Val1447Phe) | |
| 6 | g.7583399T>A | CA362690158 | DSP | c.4808T>A (p.Val1603Asp) c.6137T>A (p.Val2046Asp) c.4340T>A (p.Val1447Asp) | |
| 6 | g.7583399T>C | CA362690159 | DSP | c.4808T>C (p.Val1603Ala) c.6137T>C (p.Val2046Ala) c.4340T>C (p.Val1447Ala) | |
| 6 | g.7583399T>G | CA046938 | DSP | c.4808T>G (p.Val1603Gly) c.6137T>G (p.Val2046Gly) c.4340T>G (p.Val1447Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583399T= | CA10590132 | DSP | c.4808T= (p.Val1603=) c.6137T= (p.Val2046=) c.4340T= (p.Val1447=) | |
| 6 | g.7583400C>A | CA448715807 | DSP | c.4809C>A (p.Val1603=) c.6138C>A (p.Val2046=) c.4341C>A (p.Val1447=) | ClinVar dbSNP |
| 6 | g.7583400C= | CA1608607984 | DSP | c.4809C= (p.Val1603=) c.6138C= (p.Val2046=) c.4341C= (p.Val1447=) | |
| 6 | g.7583400C>G | CA448715808 | DSP | c.4809C>G (p.Val1603=) c.6138C>G (p.Val2046=) c.4341C>G (p.Val1447=) | |
| 6 | g.7583400C>T | CA448715810 | DSP | c.4809C>T (p.Val1603=) c.6138C>T (p.Val2046=) c.4341C>T (p.Val1447=) | gnomAD v4 |
| 6 | g.7583401A>C | CA362690160 | DSP | c.4810A>C (p.Met1604Leu) c.6139A>C (p.Met2047Leu) c.4342A>C (p.Met1448Leu) | |
| 6 | g.7583401A>G | CA362690161 | DSP | c.4810A>G (p.Met1604Val) c.6139A>G (p.Met2047Val) c.4342A>G (p.Met1448Val) | |
| 6 | g.7583401A>T | CA362690162 | DSP | c.4810A>T (p.Met1604Leu) c.6139A>T (p.Met2047Leu) c.4342A>T (p.Met1448Leu) | |
| 6 | g.7583402T>A | CA362690164 | DSP | c.4811T>A (p.Met1604Lys) c.6140T>A (p.Met2047Lys) c.4343T>A (p.Met1448Lys) | gnomAD v4 |
| 6 | g.7583402T>C | CA362690165 | DSP | c.4811T>C (p.Met1604Thr) c.6140T>C (p.Met2047Thr) c.4343T>C (p.Met1448Thr) | |
| 6 | g.7583402T>G | CA362690163 | DSP | c.4811T>G (p.Met1604Arg) c.6140T>G (p.Met2047Arg) c.4343T>G (p.Met1448Arg) | |
| 6 | g.7583403G>A | CA362690166 | DSP | c.4812G>A (p.Met1604Ile) c.6141G>A (p.Met2047Ile) c.4344G>A (p.Met1448Ile) | dbSNP gnomAD v4 |
| 6 | g.7583403G>C | CA046950 | DSP | c.4812G>C (p.Met1604Ile) c.6141G>C (p.Met2047Ile) c.4344G>C (p.Met1448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583403G= | CA1608607989 | DSP | c.4812G= (p.Met1604=) c.6141G= (p.Met2047=) c.4344G= (p.Met1448=) | |
| 6 | g.7583403G>T | CA362690167 | DSP | c.4812G>T (p.Met1604Ile) c.6141G>T (p.Met2047Ile) c.4344G>T (p.Met1448Ile) | |
| 6 | g.7583404C>A | CA362690168 | DSP | c.4813C>A (p.Leu1605Ile) c.6142C>A (p.Leu2048Ile) c.4345C>A (p.Leu1449Ile) | |
| 6 | g.7583404C>G | CA362690169 | DSP | c.4813C>G (p.Leu1605Val) c.6142C>G (p.Leu2048Val) c.4345C>G (p.Leu1449Val) | |
| 6 | g.7583404C>T | CA362690170 | DSP | c.4813C>T (p.Leu1605Phe) c.6142C>T (p.Leu2048Phe) c.4345C>T (p.Leu1449Phe) | |
| 6 | g.7583405T>A | CA362690173 | DSP | c.4814T>A (p.Leu1605His) c.6143T>A (p.Leu2048His) c.4346T>A (p.Leu1449His) | |
| 6 | g.7583405T>C | CA362690171 | DSP | c.4814T>C (p.Leu1605Pro) c.6143T>C (p.Leu2048Pro) c.4346T>C (p.Leu1449Pro) | |
| 6 | g.7583405T>G | CA362690172 | DSP | c.4814T>G (p.Leu1605Arg) c.6143T>G (p.Leu2048Arg) c.4346T>G (p.Leu1449Arg) | |
| 6 | g.7583406T>A | CA448715812 | DSP | c.4815T>A (p.Leu1605=) c.6144T>A (p.Leu2048=) c.4347T>A (p.Leu1449=) | |
| 6 | g.7583406T>C | CA448715813 | DSP | c.4815T>C (p.Leu1605=) c.6144T>C (p.Leu2048=) c.4347T>C (p.Leu1449=) | |
| 6 | g.7583406T>G | CA448715814 | DSP | c.4815T>G (p.Leu1605=) c.6144T>G (p.Leu2048=) c.4347T>G (p.Leu1449=) | |
| 6 | g.7583407C>A | CA362690174 | DSP | c.4816C>A (p.Leu1606Met) c.6145C>A (p.Leu2049Met) c.4348C>A (p.Leu1450Met) | |
| 6 | g.7583407C>G | CA362690175 | DSP | c.4816C>G (p.Leu1606Val) c.6145C>G (p.Leu2049Val) c.4348C>G (p.Leu1450Val) | |
| 6 | g.7583407C>T | CA448715816 | DSP | c.4816C>T (p.Leu1606=) c.6145C>T (p.Leu2049=) c.4348C>T (p.Leu1450=) | gnomAD v4 |
| 6 | g.7583408T>A | CA362690176 | DSP | c.4817T>A (p.Leu1606Gln) c.6146T>A (p.Leu2049Gln) c.4349T>A (p.Leu1450Gln) | |
| 6 | g.7583408T>C | CA362690177 | DSP | c.4817T>C (p.Leu1606Pro) c.6146T>C (p.Leu2049Pro) c.4349T>C (p.Leu1450Pro) | |
| 6 | g.7583408T>G | CA362690178 | DSP | c.4817T>G (p.Leu1606Arg) c.6146T>G (p.Leu2049Arg) c.4349T>G (p.Leu1450Arg) | ClinVar dbSNP |
| 6 | g.7583408T= | CA1608607994 | DSP | c.4817T= (p.Leu1606=) c.6146T= (p.Leu2049=) c.4349T= (p.Leu1450=) | |
| 6 | g.7583409G>A | CA448715817 | DSP | c.4818G>A (p.Leu1606=) c.6147G>A (p.Leu2049=) c.4350G>A (p.Leu1450=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583409G>C | CA448715818 | DSP | c.4818G>C (p.Leu1606=) c.6147G>C (p.Leu2049=) c.4350G>C (p.Leu1450=) | |
| 6 | g.7583409G= | CA1608607999 | DSP | c.4818G= (p.Leu1606=) c.6147G= (p.Leu2049=) c.4350G= (p.Leu1450=) | |
| 6 | g.7583409G>T | CA448715819 | DSP | c.4818G>T (p.Leu1606=) c.6147G>T (p.Leu2049=) c.4350G>T (p.Leu1450=) | |
| 6 | g.7583410G>A | CA362690179 | DSP | c.4819G>A (p.Glu1607Lys) c.6148G>A (p.Glu2050Lys) c.4351G>A (p.Glu1451Lys) | |
| 6 | g.7583410G>C | CA362690181 | DSP | c.4819G>C (p.Glu1607Gln) c.6148G>C (p.Glu2050Gln) c.4351G>C (p.Glu1451Gln) | ClinVar |
| 6 | g.7583410G>T | CA362690180 | DSP | c.4819G>T (p.Glu1607Ter) c.6148G>T (p.Glu2050Ter) c.4351G>T (p.Glu1451Ter) | |
| 6 | g.7583411A>C | CA362690182 | DSP | c.4820A>C (p.Glu1607Ala) c.6149A>C (p.Glu2050Ala) c.4352A>C (p.Glu1451Ala) | ClinVar |
| 6 | g.7583411A>G | CA362690184 | DSP | c.4820A>G (p.Glu1607Gly) c.6149A>G (p.Glu2050Gly) c.4352A>G (p.Glu1451Gly) | |
| 6 | g.7583411A>T | CA362690183 | DSP | c.4820A>T (p.Glu1607Val) c.6149A>T (p.Glu2050Val) c.4352A>T (p.Glu1451Val) | |
| 6 | g.7583412G>A | CA448715821 | DSP | c.4821G>A (p.Glu1607=) c.6150G>A (p.Glu2050=) c.4353G>A (p.Glu1451=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583412G>C | CA362690185 | DSP | c.4821G>C (p.Glu1607Asp) c.6150G>C (p.Glu2050Asp) c.4353G>C (p.Glu1451Asp) | |
| 6 | g.7583412G= | CA1608608005 | DSP | c.4821G= (p.Glu1607=) c.6150G= (p.Glu2050=) c.4353G= (p.Glu1451=) | |
| 6 | g.7583412G>T | CA362690186 | DSP | c.4821G>T (p.Glu1607Asp) c.6150G>T (p.Glu2050Asp) c.4353G>T (p.Glu1451Asp) | |
| 6 | g.7583413G>A | CA362690187 | DSP | c.4822G>A (p.Ala1608Thr) c.6151G>A (p.Ala2051Thr) c.4354G>A (p.Ala1452Thr) | ClinVar |
| 6 | g.7583413G>C | CA362690188 | DSP | c.4822G>C (p.Ala1608Pro) c.6151G>C (p.Ala2051Pro) c.4354G>C (p.Ala1452Pro) | |
| 6 | g.7583413G>T | CA362690189 | DSP | c.4822G>T (p.Ala1608Ser) c.6151G>T (p.Ala2051Ser) c.4354G>T (p.Ala1452Ser) | gnomAD v4 |
| 6 | g.7583414C>A | CA362690190 | DSP | c.4823C>A (p.Ala1608Asp) c.6152C>A (p.Ala2051Asp) c.4355C>A (p.Ala1452Asp) | |
| 6 | g.7583414C>G | CA362690191 | DSP | c.4823C>G (p.Ala1608Gly) c.6152C>G (p.Ala2051Gly) c.4355C>G (p.Ala1452Gly) | |
| 6 | g.7583414C>T | CA362690192 | DSP | c.4823C>T (p.Ala1608Val) c.6152C>T (p.Ala2051Val) c.4355C>T (p.Ala1452Val) | |
| 6 | g.7583416dup | CA2677235483 | DSP | c.4825dup (p.Gln1609ProfsTer9) c.6154dup (p.Gln2052ProfsTer9) c.4357dup (p.Gln1453ProfsTer9) | gnomAD v4 |
| 6 | g.7583415C>A | CA448715825 | DSP | c.4824C>A (p.Ala1608=) c.6153C>A (p.Ala2051=) c.4356C>A (p.Ala1452=) | |
| 6 | g.7583415C= | CA1608608011 | DSP | c.4824C= (p.Ala1608=) c.6153C= (p.Ala2051=) c.4356C= (p.Ala1452=) | |
| 6 | g.7583415C>G | CA006721 | DSP | c.4824C>G (p.Ala1608=) c.6153C>G (p.Ala2051=) c.4356C>G (p.Ala1452=) | ClinVar dbSNP |
| 6 | g.7583415C>T | CA448715827 | DSP | c.4824C>T (p.Ala1608=) c.6153C>T (p.Ala2051=) c.4356C>T (p.Ala1452=) | |
| 6 | g.7583415_7583424delinsCCAGGCAGCT | CA1608608014 | DSP | c.4824_4833delinsCCAGGCAGCT (p.Ala1608=) c.6153_6162delinsCCAGGCAGCT (p.Ala2051=) c.4356_4365delinsCCAGGCAGCT (p.Ala1452=) | |
| 6 | g.7583416C>A | CA362690193 | DSP | c.4825C>A (p.Gln1609Lys) c.6154C>A (p.Gln2052Lys) c.4357C>A (p.Gln1453Lys) | |
| 6 | g.7583416C>G | CA362690194 | DSP | c.4825C>G (p.Gln1609Glu) c.6154C>G (p.Gln2052Glu) c.4357C>G (p.Gln1453Glu) | |
| 6 | g.7583416C>T | CA362690195 | DSP | c.4825C>T (p.Gln1609Ter) c.6154C>T (p.Gln2052Ter) c.4357C>T (p.Gln1453Ter) | ClinVar |
| 6 | g.7583416_7583424del | CA1139659420 | DSP | c.4825_4833del (p.Gln1609_Ala1611del) c.6154_6162del (p.Gln2052_Ala2054del) c.4357_4365del (p.Gln1453_Ala1455del) | ClinVar dbSNP |
| 6 | g.7583417A>C | CA362690196 | DSP | c.4826A>C (p.Gln1609Pro) c.6155A>C (p.Gln2052Pro) c.4358A>C (p.Gln1453Pro) | |
| 6 | g.7583417A>G | CA362690197 | DSP | c.4826A>G (p.Gln1609Arg) c.6155A>G (p.Gln2052Arg) c.4358A>G (p.Gln1453Arg) | |
| 6 | g.7583417A>T | CA362690198 | DSP | c.4826A>T (p.Gln1609Leu) c.6155A>T (p.Gln2052Leu) c.4358A>T (p.Gln1453Leu) | |
| 6 | g.7583418G>A | CA448715830 | DSP | c.4827G>A (p.Gln1609=) c.6156G>A (p.Gln2052=) c.4359G>A (p.Gln1453=) | |
| 6 | g.7583418G>C | CA362690199 | DSP | c.4827G>C (p.Gln1609His) c.6156G>C (p.Gln2052His) c.4359G>C (p.Gln1453His) | |
| 6 | g.7583418G>T | CA362690200 | DSP | c.4827G>T (p.Gln1609His) c.6156G>T (p.Gln2052His) c.4359G>T (p.Gln1453His) | |
| 6 | g.7583419G>A | CA362690201 | DSP | c.4828G>A (p.Ala1610Thr) c.6157G>A (p.Ala2053Thr) c.4360G>A (p.Ala1454Thr) | gnomAD v4 |
| 6 | g.7583419G>C | CA362690202 | DSP | c.4828G>C (p.Ala1610Pro) c.6157G>C (p.Ala2053Pro) c.4360G>C (p.Ala1454Pro) | |
| 6 | g.7583419G>T | CA362690203 | DSP | c.4828G>T (p.Ala1610Ser) c.6157G>T (p.Ala2053Ser) c.4360G>T (p.Ala1454Ser) | |
| 6 | g.7583420C>A | CA362690204 | DSP | c.4829C>A (p.Ala1610Glu) c.6158C>A (p.Ala2053Glu) c.4361C>A (p.Ala1454Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583420C= | CA1608608024 | DSP | c.4829C= (p.Ala1610=) c.6158C= (p.Ala2053=) c.4361C= (p.Ala1454=) | |
| 6 | g.7583420C>G | CA362690205 | DSP | c.4829C>G (p.Ala1610Gly) c.6158C>G (p.Ala2053Gly) c.4361C>G (p.Ala1454Gly) | |
| 6 | g.7583420C>T | CA362690206 | DSP | c.4829C>T (p.Ala1610Val) c.6158C>T (p.Ala2053Val) c.4361C>T (p.Ala1454Val) | |
| 6 | g.7583421A>C | CA448715835 | DSP | c.4830A>C (p.Ala1610=) c.6159A>C (p.Ala2053=) c.4362A>C (p.Ala1454=) | |
| 6 | g.7583421A>G | CA448715833 | DSP | c.4830A>G (p.Ala1610=) c.6159A>G (p.Ala2053=) c.4362A>G (p.Ala1454=) | |
| 6 | g.7583421A>T | CA448715832 | DSP | c.4830A>T (p.Ala1610=) c.6159A>T (p.Ala2053=) c.4362A>T (p.Ala1454=) | |
| 6 | g.7583422G>A | CA362690207 | DSP | c.4831G>A (p.Ala1611Thr) c.6160G>A (p.Ala2054Thr) c.4363G>A (p.Ala1455Thr) | ClinVar dbSNP |
| 6 | g.7583422G>C | CA362690208 | DSP | c.4831G>C (p.Ala1611Pro) c.6160G>C (p.Ala2054Pro) c.4363G>C (p.Ala1455Pro) | |
| 6 | g.7583422G= | CA1608608026 | DSP | c.4831G= (p.Ala1611=) c.6160G= (p.Ala2054=) c.4363G= (p.Ala1455=) | |
| 6 | g.7583422G>T | CA362690209 | DSP | c.4831G>T (p.Ala1611Ser) c.6160G>T (p.Ala2054Ser) c.4363G>T (p.Ala1455Ser) | ClinVar dbSNP |
| 6 | g.7583423C>A | CA362690210 | DSP | c.4832C>A (p.Ala1611Asp) c.6161C>A (p.Ala2054Asp) c.4364C>A (p.Ala1455Asp) | |
| 6 | g.7583423C= | CA1608608035 | DSP | c.4832C= (p.Ala1611=) c.6161C= (p.Ala2054=) c.4364C= (p.Ala1455=) | |
| 6 | g.7583423C>G | CA362690211 | DSP | c.4832C>G (p.Ala1611Gly) c.6161C>G (p.Ala2054Gly) c.4364C>G (p.Ala1455Gly) | |
| 6 | g.7583423C>T | CA362690212 | DSP | c.4832C>T (p.Ala1611Val) c.6161C>T (p.Ala2054Val) c.4364C>T (p.Ala1455Val) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583424T>A | CA448715838 | DSP | c.4833T>A (p.Ala1611=) c.6162T>A (p.Ala2054=) c.4365T>A (p.Ala1455=) | |
| 6 | g.7583424T>C | CA448715842 | DSP | c.4833T>C (p.Ala1611=) c.6162T>C (p.Ala2054=) c.4365T>C (p.Ala1455=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583424T>G | CA448715839 | DSP | c.4833T>G (p.Ala1611=) c.6162T>G (p.Ala2054=) c.4365T>G (p.Ala1455=) | |
| 6 | g.7583424T= | CA1608608047 | DSP | c.4833T= (p.Ala1611=) c.6162T= (p.Ala2054=) c.4365T= (p.Ala1455=) | |
| 6 | g.7583425A>C | CA362690213 | DSP | c.4834A>C (p.Thr1612Pro) c.6163A>C (p.Thr2055Pro) c.4366A>C (p.Thr1456Pro) | |
| 6 | g.7583425A>G | CA362690215 | DSP | c.4834A>G (p.Thr1612Ala) c.6163A>G (p.Thr2055Ala) c.4366A>G (p.Thr1456Ala) | |
| 6 | g.7583425A>T | CA362690214 | DSP | c.4834A>T (p.Thr1612Ser) c.6163A>T (p.Thr2055Ser) c.4366A>T (p.Thr1456Ser) | |
| 6 | g.7583426C>A | CA362690216 | DSP | c.4835C>A (p.Thr1612Lys) c.6164C>A (p.Thr2055Lys) c.4367C>A (p.Thr1456Lys) | |
| 6 | g.7583426C>G | CA362690217 | DSP | c.4835C>G (p.Thr1612Arg) c.6164C>G (p.Thr2055Arg) c.4367C>G (p.Thr1456Arg) | |
| 6 | g.7583426C>T | CA362690218 | DSP | c.4835C>T (p.Thr1612Ile) c.6164C>T (p.Thr2055Ile) c.4367C>T (p.Thr1456Ile) | |
| 6 | g.7583427A= | CA1608608052 | DSP | c.4836A= (p.Thr1612=) c.6165A= (p.Thr2055=) c.4368A= (p.Thr1456=) | |
| 6 | g.7583427A>C | CA448715844 | DSP | c.4836A>C (p.Thr1612=) c.6165A>C (p.Thr2055=) c.4368A>C (p.Thr1456=) | gnomAD v4 |
| 6 | g.7583427A>G | CA448715845 | DSP | c.4836A>G (p.Thr1612=) c.6165A>G (p.Thr2055=) c.4368A>G (p.Thr1456=) | dbSNP gnomAD v4 |
| 6 | g.7583427A>T | CA448715846 | DSP | c.4836A>T (p.Thr1612=) c.6165A>T (p.Thr2055=) c.4368A>T (p.Thr1456=) | |
| 6 | g.7583428G>A | CA362690219 | DSP | c.4837G>A (p.Gly1613Ser) c.6166G>A (p.Gly2056Ser) c.4369G>A (p.Gly1457Ser) | |
| 6 | g.7583428G>C | CA046962 | DSP | c.4837G>C (p.Gly1613Arg) c.6166G>C (p.Gly2056Arg) c.4369G>C (p.Gly1457Arg) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.7583428G= | CA1608608064 | DSP | c.4837G= (p.Gly1613=) c.6166G= (p.Gly2056=) c.4369G= (p.Gly1457=) | |
| 6 | g.7583428G>T | CA362690220 | DSP | c.4837G>T (p.Gly1613Cys) c.6166G>T (p.Gly2056Cys) c.4369G>T (p.Gly1457Cys) | |
| 6 | g.7583429G>A | CA362690221 | DSP | c.4838G>A (p.Gly1613Asp) c.6167G>A (p.Gly2056Asp) c.4370G>A (p.Gly1457Asp) | gnomAD v4 |
| 6 | g.7583429G>C | CA362690222 | DSP | c.4838G>C (p.Gly1613Ala) c.6167G>C (p.Gly2056Ala) c.4370G>C (p.Gly1457Ala) | |
| 6 | g.7583429G>T | CA362690223 | DSP | c.4838G>T (p.Gly1613Val) c.6167G>T (p.Gly2056Val) c.4370G>T (p.Gly1457Val) | ClinVar dbSNP |
| 6 | g.7583430T>A | CA448715848 | DSP | c.4839T>A (p.Gly1613=) c.6168T>A (p.Gly2056=) c.4371T>A (p.Gly1457=) | |
| 6 | g.7583430T>C | CA448715849 | DSP | c.4839T>C (p.Gly1613=) c.6168T>C (p.Gly2056=) c.4371T>C (p.Gly1457=) | |
| 6 | g.7583430T>G | CA046978 | DSP | c.4839T>G (p.Gly1613=) c.6168T>G (p.Gly2056=) c.4371T>G (p.Gly1457=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583430T= | CA1608608073 | DSP | c.4839T= (p.Gly1613=) c.6168T= (p.Gly2056=) c.4371T= (p.Gly1457=) | |
| 6 | g.7583431G>A | CA362690224 | DSP | c.4840G>A (p.Gly1614Ser) c.6169G>A (p.Gly2057Ser) c.4372G>A (p.Gly1458Ser) | |
| 6 | g.7583431G>C | CA362690225 | DSP | c.4840G>C (p.Gly1614Arg) c.6169G>C (p.Gly2057Arg) c.4372G>C (p.Gly1458Arg) | |
| 6 | g.7583431G>T | CA362690226 | DSP | c.4840G>T (p.Gly1614Cys) c.6169G>T (p.Gly2057Cys) c.4372G>T (p.Gly1458Cys) | |
| 6 | g.7583432del | CA2580075539 | DSP | c.4841del (p.Gly1614ValfsTer2) c.6170del (p.Gly2057ValfsTer2) c.4373del (p.Gly1458ValfsTer2) | ClinVar |
| 6 | g.7583432G>A | CA362690227 | DSP | c.4841G>A (p.Gly1614Asp) c.6170G>A (p.Gly2057Asp) c.4373G>A (p.Gly1458Asp) | gnomAD v4 |
| 6 | g.7583432G>C | CA362690229 | DSP | c.4841G>C (p.Gly1614Ala) c.6170G>C (p.Gly2057Ala) c.4373G>C (p.Gly1458Ala) | gnomAD v4 |
| 6 | g.7583432G>T | CA362690228 | DSP | c.4841G>T (p.Gly1614Val) c.6170G>T (p.Gly2057Val) c.4373G>T (p.Gly1458Val) | |
| 6 | g.7583432_7583443del | CA2578524523 | DSP | c.4841_4852del (p.Gly1614_Pro1618delinsAla) c.6170_6181del (p.Gly2057_Pro2061delinsAla) c.4373_4384del (p.Gly1458_Pro1462delinsAla) | |
| 6 | g.7583433T>A | CA448715851 | DSP | c.4842T>A (p.Gly1614=) c.6171T>A (p.Gly2057=) c.4374T>A (p.Gly1458=) | |
| 6 | g.7583433T>C | CA448715852 | DSP | c.4842T>C (p.Gly1614=) c.6171T>C (p.Gly2057=) c.4374T>C (p.Gly1458=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583433T>G | CA448715853 | DSP | c.4842T>G (p.Gly1614=) c.6171T>G (p.Gly2057=) c.4374T>G (p.Gly1458=) | |
| 6 | g.7583433T= | CA1608608080 | DSP | c.4842T= (p.Gly1614=) c.6171T= (p.Gly2057=) c.4374T= (p.Gly1458=) | |
| 6 | g.7583434A>C | CA362690230 | DSP | c.4843A>C (p.Ile1615Leu) c.6172A>C (p.Ile2058Leu) c.4375A>C (p.Ile1459Leu) | |
| 6 | g.7583434A>G | CA362690231 | DSP | c.4843A>G (p.Ile1615Val) c.6172A>G (p.Ile2058Val) c.4375A>G (p.Ile1459Val) | ClinVar dbSNP |
| 6 | g.7583434A>T | CA362690232 | DSP | c.4843A>T (p.Ile1615Leu) c.6172A>T (p.Ile2058Leu) c.4375A>T (p.Ile1459Leu) | |
| 6 | g.7583435T>A | CA362690233 | DSP | c.4844T>A (p.Ile1615Lys) c.6173T>A (p.Ile2058Lys) c.4376T>A (p.Ile1459Lys) | gnomAD v4 |
| 6 | g.7583435T>C | CA362690234 | DSP | c.4844T>C (p.Ile1615Thr) c.6173T>C (p.Ile2058Thr) c.4376T>C (p.Ile1459Thr) | |
| 6 | g.7583435T>G | CA362690235 | DSP | c.4844T>G (p.Ile1615Arg) c.6173T>G (p.Ile2058Arg) c.4376T>G (p.Ile1459Arg) | |
| 6 | g.7583436A>C | CA448715952 | DSP | c.4845A>C (p.Ile1615=) c.6174A>C (p.Ile2058=) c.4377A>C (p.Ile1459=) | |
| 6 | g.7583436A>G | CA362690236 | DSP | c.4845A>G (p.Ile1615Met) c.6174A>G (p.Ile2058Met) c.4377A>G (p.Ile1459Met) | |
| 6 | g.7583436A>T | CA448715953 | DSP | c.4845A>T (p.Ile1615=) c.6174A>T (p.Ile2058=) c.4377A>T (p.Ile1459=) |