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.7584198_7584219del | CA2573052740 | DSP | c.5607_5628del (p.Glu1870TrpfsTer?) c.6936_6957del (p.Glu2313TrpfsTer?) c.5139_5160del (p.Glu1714TrpfsTer?) | ClinVar dbSNP |
| 6 | g.7584207C>A | CA048700 | DSP | c.5616C>A (p.Ala1872=) c.6945C>A (p.Ala2315=) c.5148C>A (p.Ala1716=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584207C= | CA1608610470 | DSP | c.5616C= (p.Ala1872=) c.6945C= (p.Ala2315=) c.5148C= (p.Ala1716=) | |
| 6 | g.7584207C>G | CA448715962 | DSP | c.5616C>G (p.Ala1872=) c.6945C>G (p.Ala2315=) c.5148C>G (p.Ala1716=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584207C>T | CA448715964 | DSP | c.5616C>T (p.Ala1872=) c.6945C>T (p.Ala2315=) c.5148C>T (p.Ala1716=) | |
| 6 | g.7584208T>A | CA362691898 | DSP | c.5617T>A (p.Tyr1873Asn) c.6946T>A (p.Tyr2316Asn) c.5149T>A (p.Tyr1717Asn) | |
| 6 | g.7584208T>C | CA362691899 | DSP | c.5617T>C (p.Tyr1873His) c.6946T>C (p.Tyr2316His) c.5149T>C (p.Tyr1717His) | ClinVar dbSNP |
| 6 | g.7584208T>G | CA362691900 | DSP | c.5617T>G (p.Tyr1873Asp) c.6946T>G (p.Tyr2316Asp) c.5149T>G (p.Tyr1717Asp) | |
| 6 | g.7584208T= | CA1608610479 | DSP | c.5617T= (p.Tyr1873=) c.6946T= (p.Tyr2316=) c.5149T= (p.Tyr1717=) | |
| 6 | g.7584209A= | CA1608610495 | DSP | c.5618A= (p.Tyr1873=) c.6947A= (p.Tyr2316=) c.5150A= (p.Tyr1717=) | |
| 6 | g.7584209A>C | CA362691901 | DSP | c.5618A>C (p.Tyr1873Ser) c.6947A>C (p.Tyr2316Ser) c.5150A>C (p.Tyr1717Ser) | |
| 6 | g.7584209A>G | CA048714 | DSP | c.5618A>G (p.Tyr1873Cys) c.6947A>G (p.Tyr2316Cys) c.5150A>G (p.Tyr1717Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584209A>T | CA362691902 | DSP | c.5618A>T (p.Tyr1873Phe) c.6947A>T (p.Tyr2316Phe) c.5150A>T (p.Tyr1717Phe) | gnomAD v4 |
| 6 | g.7584210C>A | CA362691903 | DSP | c.5619C>A (p.Tyr1873Ter) c.6948C>A (p.Tyr2316Ter) c.5151C>A (p.Tyr1717Ter) | |
| 6 | g.7584210C>G | CA362691904 | DSP | c.5619C>G (p.Tyr1873Ter) c.6948C>G (p.Tyr2316Ter) c.5151C>G (p.Tyr1717Ter) | |
| 6 | g.7584210C>T | CA448715967 | DSP | c.5619C>T (p.Tyr1873=) c.6948C>T (p.Tyr2316=) c.5151C>T (p.Tyr1717=) | dbSNP |
| 6 | g.7584211A>C | CA362691907 | DSP | c.5620A>C (p.Lys1874Gln) c.6949A>C (p.Lys2317Gln) c.5152A>C (p.Lys1718Gln) | |
| 6 | g.7584211A>G | CA362691906 | DSP | c.5620A>G (p.Lys1874Glu) c.6949A>G (p.Lys2317Glu) c.5152A>G (p.Lys1718Glu) | |
| 6 | g.7584211A>T | CA362691905 | DSP | c.5620A>T (p.Lys1874Ter) c.6949A>T (p.Lys2317Ter) c.5152A>T (p.Lys1718Ter) | |
| 6 | g.7584211_7584213delinsAAG | CA1608610528 | DSP | c.5620_5622delinsAAG (p.Lys1874=) c.6949_6951delinsAAG (p.Lys2317=) c.5152_5154delinsAAG (p.Lys1718=) | |
| 6 | g.7584212A= | CA1608610541 | DSP | c.5621A= (p.Lys1874=) c.6950A= (p.Lys2317=) c.5153A= (p.Lys1718=) | |
| 6 | g.7584212A>C | CA362691908 | DSP | c.5621A>C (p.Lys1874Thr) c.6950A>C (p.Lys2317Thr) c.5153A>C (p.Lys1718Thr) | |
| 6 | g.7584212A>G | CA362691909 | DSP | c.5621A>G (p.Lys1874Arg) c.6950A>G (p.Lys2317Arg) c.5153A>G (p.Lys1718Arg) | ClinVar dbSNP |
| 6 | g.7584212A>T | CA362691910 | DSP | c.5621A>T (p.Lys1874Met) c.6950A>T (p.Lys2317Met) c.5153A>T (p.Lys1718Met) | |
| 6 | g.7584216_7584217del | CA658796720 | DSP | c.5625_5626del (p.Gly1876SerfsTer5) c.6954_6955del (p.Gly2319SerfsTer5) c.5157_5158del (p.Gly1720SerfsTer5) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584213G>A | CA448715969 | DSP | c.5622G>A (p.Lys1874=) c.6951G>A (p.Lys2317=) c.5154G>A (p.Lys1718=) | dbSNP |
| 6 | g.7584213G>C | CA362691911 | DSP | c.5622G>C (p.Lys1874Asn) c.6951G>C (p.Lys2317Asn) c.5154G>C (p.Lys1718Asn) | gnomAD v4 |
| 6 | g.7584213G= | CA1608610546 | DSP | c.5622G= (p.Lys1874=) c.6951G= (p.Lys2317=) c.5154G= (p.Lys1718=) | |
| 6 | g.7584213G>T | CA362691912 | DSP | c.5622G>T (p.Lys1874Asn) c.6951G>T (p.Lys2317Asn) c.5154G>T (p.Lys1718Asn) | |
| 6 | g.7584214A>C | CA448715971 | DSP | c.5623A>C (p.Arg1875=) c.6952A>C (p.Arg2318=) c.5155A>C (p.Arg1719=) | |
| 6 | g.7584214A>G | CA362691913 | DSP | c.5623A>G (p.Arg1875Gly) c.6952A>G (p.Arg2318Gly) c.5155A>G (p.Arg1719Gly) | |
| 6 | g.7584214A>T | CA362691914 | DSP | c.5623A>T (p.Arg1875Ter) c.6952A>T (p.Arg2318Ter) c.5155A>T (p.Arg1719Ter) | |
| 6 | g.7584215G>A | CA362691916 | DSP | c.5624G>A (p.Arg1875Lys) c.6953G>A (p.Arg2318Lys) c.5156G>A (p.Arg1719Lys) | |
| 6 | g.7584215G>C | CA048749 | DSP | c.5624G>C (p.Arg1875Thr) c.6953G>C (p.Arg2318Thr) c.5156G>C (p.Arg1719Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584215G= | CA1608610559 | DSP | c.5624G= (p.Arg1875=) c.6953G= (p.Arg2318=) c.5156G= (p.Arg1719=) | |
| 6 | g.7584215G>T | CA362691915 | DSP | c.5624G>T (p.Arg1875Ile) c.6953G>T (p.Arg2318Ile) c.5156G>T (p.Arg1719Ile) | |
| 6 | g.7584216A>C | CA362691917 | DSP | c.5625A>C (p.Arg1875Ser) c.6954A>C (p.Arg2318Ser) c.5157A>C (p.Arg1719Ser) | |
| 6 | g.7584216A>G | CA448715975 | DSP | c.5625A>G (p.Arg1875=) c.6954A>G (p.Arg2318=) c.5157A>G (p.Arg1719=) | ClinVar dbSNP |
| 6 | g.7584216A>T | CA362691918 | DSP | c.5625A>T (p.Arg1875Ser) c.6954A>T (p.Arg2318Ser) c.5157A>T (p.Arg1719Ser) | |
| 6 | g.7584217G>A | CA362691919 | DSP | c.5626G>A (p.Gly1876Ser) c.6955G>A (p.Gly2319Ser) c.5158G>A (p.Gly1720Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584217G>C | CA362691920 | DSP | c.5626G>C (p.Gly1876Arg) c.6955G>C (p.Gly2319Arg) c.5158G>C (p.Gly1720Arg) | |
| 6 | g.7584217G= | CA1608610562 | DSP | c.5626G= (p.Gly1876=) c.6955G= (p.Gly2319=) c.5158G= (p.Gly1720=) | |
| 6 | g.7584217G>T | CA362691921 | DSP | c.5626G>T (p.Gly1876Cys) c.6955G>T (p.Gly2319Cys) c.5158G>T (p.Gly1720Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584218G>A | CA048764 | DSP | c.5627G>A (p.Gly1876Asp) c.6956G>A (p.Gly2319Asp) c.5159G>A (p.Gly1720Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584218G>C | CA362691923 | DSP | c.5627G>C (p.Gly1876Ala) c.6956G>C (p.Gly2319Ala) c.5159G>C (p.Gly1720Ala) | |
| 6 | g.7584218G= | CA1608610566 | DSP | c.5627G= (p.Gly1876=) c.6956G= (p.Gly2319=) c.5159G= (p.Gly1720=) | |
| 6 | g.7584218G>T | CA362691922 | DSP | c.5627G>T (p.Gly1876Val) c.6956G>T (p.Gly2319Val) c.5159G>T (p.Gly1720Val) | |
| 6 | g.7584219T>A | CA448715980 | DSP | c.5628T>A (p.Gly1876=) c.6957T>A (p.Gly2319=) c.5160T>A (p.Gly1720=) | |
| 6 | g.7584219T>C | CA448715981 | DSP | c.5628T>C (p.Gly1876=) c.6957T>C (p.Gly2319=) c.5160T>C (p.Gly1720=) | |
| 6 | g.7584219T>G | CA448715982 | DSP | c.5628T>G (p.Gly1876=) c.6957T>G (p.Gly2319=) c.5160T>G (p.Gly1720=) | gnomAD v4 |
| 6 | g.7584220C>A | CA362691924 | DSP | c.5629C>A (p.Leu1877Met) c.6958C>A (p.Leu2320Met) c.5161C>A (p.Leu1721Met) | COSMIC |
| 6 | g.7584220C>G | CA362691925 | DSP | c.5629C>G (p.Leu1877Val) c.6958C>G (p.Leu2320Val) c.5161C>G (p.Leu1721Val) | |
| 6 | g.7584220C>T | CA448715985 | DSP | c.5629C>T (p.Leu1877=) c.6958C>T (p.Leu2320=) c.5161C>T (p.Leu1721=) | |
| 6 | g.7584221T>A | CA362691926 | DSP | c.5630T>A (p.Leu1877Gln) c.6959T>A (p.Leu2320Gln) c.5162T>A (p.Leu1721Gln) | |
| 6 | g.7584221T>C | CA362691927 | DSP | c.5630T>C (p.Leu1877Pro) c.6959T>C (p.Leu2320Pro) c.5162T>C (p.Leu1721Pro) | |
| 6 | g.7584221T>G | CA362691928 | DSP | c.5630T>G (p.Leu1877Arg) c.6959T>G (p.Leu2320Arg) c.5162T>G (p.Leu1721Arg) | |
| 6 | g.7584222G>A | CA448715986 | DSP | c.5631G>A (p.Leu1877=) c.6960G>A (p.Leu2320=) c.5163G>A (p.Leu1721=) | ClinVar gnomAD v4 |
| 6 | g.7584222G>C | CA448715987 | DSP | c.5631G>C (p.Leu1877=) c.6960G>C (p.Leu2320=) c.5163G>C (p.Leu1721=) | dbSNP |
| 6 | g.7584222G= | CA1608610572 | DSP | c.5631G= (p.Leu1877=) c.6960G= (p.Leu2320=) c.5163G= (p.Leu1721=) | |
| 6 | g.7584222G>T | CA448715988 | DSP | c.5631G>T (p.Leu1877=) c.6960G>T (p.Leu2320=) c.5163G>T (p.Leu1721=) | |
| 6 | g.7584222_7584223delinsCT | CA891862624 | DSP | c.5631_5632delinsCT (p.Val1878Leu) c.6960_6961delinsCT (p.Val2321Leu) c.5163_5164delinsCT (p.Val1722Leu) | |
| 6 | g.7584223G>A | CA048794 | DSP | c.5632G>A (p.Val1878Met) c.6961G>A (p.Val2321Met) c.5164G>A (p.Val1722Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584223G>C | CA362691929 | DSP | c.5632G>C (p.Val1878Leu) c.6961G>C (p.Val2321Leu) c.5164G>C (p.Val1722Leu) | |
| 6 | g.7584223G= | CA1608610589 | DSP | c.5632G= (p.Val1878=) c.6961G= (p.Val2321=) c.5164G= (p.Val1722=) | |
| 6 | g.7584223G>T | CA362691930 | DSP | c.5632G>T (p.Val1878Leu) c.6961G>T (p.Val2321Leu) c.5164G>T (p.Val1722Leu) | |
| 6 | g.7584224T>A | CA362691931 | DSP | c.5633T>A (p.Val1878Glu) c.6962T>A (p.Val2321Glu) c.5165T>A (p.Val1722Glu) | |
| 6 | g.7584224T>C | CA362691932 | DSP | c.5633T>C (p.Val1878Ala) c.6962T>C (p.Val2321Ala) c.5165T>C (p.Val1722Ala) | dbSNP gnomAD v4 |
| 6 | g.7584224T>G | CA362691933 | DSP | c.5633T>G (p.Val1878Gly) c.6962T>G (p.Val2321Gly) c.5165T>G (p.Val1722Gly) | |
| 6 | g.7584224T= | CA1608610603 | DSP | c.5633T= (p.Val1878=) c.6962T= (p.Val2321=) c.5165T= (p.Val1722=) | |
| 6 | g.7584225G>A | CA448715992 | DSP | c.5634G>A (p.Val1878=) c.6963G>A (p.Val2321=) c.5166G>A (p.Val1722=) | ClinVar dbSNP |
| 6 | g.7584225G>C | CA448715993 | DSP | c.5634G>C (p.Val1878=) c.6963G>C (p.Val2321=) c.5166G>C (p.Val1722=) | |
| 6 | g.7584225G>T | CA448715991 | DSP | c.5634G>T (p.Val1878=) c.6963G>T (p.Val2321=) c.5166G>T (p.Val1722=) | |
| 6 | g.7584226G>A | CA362691936 | DSP | c.5635G>A (p.Gly1879Ser) c.6964G>A (p.Gly2322Ser) c.5167G>A (p.Gly1723Ser) | COSMIC |
| 6 | g.7584226G>C | CA362691935 | DSP | c.5635G>C (p.Gly1879Arg) c.6964G>C (p.Gly2322Arg) c.5167G>C (p.Gly1723Arg) | |
| 6 | g.7584226G>T | CA362691934 | DSP | c.5635G>T (p.Gly1879Cys) c.6964G>T (p.Gly2322Cys) c.5167G>T (p.Gly1723Cys) | gnomAD v4 |
| 6 | g.7584227G>A | CA362691937 | DSP | c.5636G>A (p.Gly1879Asp) c.6965G>A (p.Gly2322Asp) c.5168G>A (p.Gly1723Asp) | |
| 6 | g.7584227G>C | CA362691939 | DSP | c.5636G>C (p.Gly1879Ala) c.6965G>C (p.Gly2322Ala) c.5168G>C (p.Gly1723Ala) | |
| 6 | g.7584227G>T | CA362691938 | DSP | c.5636G>T (p.Gly1879Val) c.6965G>T (p.Gly2322Val) c.5168G>T (p.Gly1723Val) | gnomAD v4 COSMIC |
| 6 | g.7584228C>A | CA448716000 | DSP | c.5637C>A (p.Gly1879=) c.6966C>A (p.Gly2322=) c.5169C>A (p.Gly1723=) | |
| 6 | g.7584228C>G | CA448715997 | DSP | c.5637C>G (p.Gly1879=) c.6966C>G (p.Gly2322=) c.5169C>G (p.Gly1723=) | |
| 6 | g.7584228C>T | CA448715998 | DSP | c.5637C>T (p.Gly1879=) c.6966C>T (p.Gly2322=) c.5169C>T (p.Gly1723=) | gnomAD v4 |
| 6 | g.7584229A= | CA1608610606 | DSP | c.5638A= (p.Ile1880=) c.6967A= (p.Ile2323=) c.5170A= (p.Ile1724=) | |
| 6 | g.7584229A>C | CA362691940 | DSP | c.5638A>C (p.Ile1880Leu) c.6967A>C (p.Ile2323Leu) c.5170A>C (p.Ile1724Leu) | ClinVar dbSNP |
| 6 | g.7584229A>G | CA362691942 | DSP | c.5638A>G (p.Ile1880Val) c.6967A>G (p.Ile2323Val) c.5170A>G (p.Ile1724Val) | |
| 6 | g.7584229A>T | CA362691941 | DSP | c.5638A>T (p.Ile1880Phe) c.6967A>T (p.Ile2323Phe) c.5170A>T (p.Ile1724Phe) | |
| 6 | g.7584230T>A | CA362691943 | DSP | c.5639T>A (p.Ile1880Asn) c.6968T>A (p.Ile2323Asn) c.5171T>A (p.Ile1724Asn) | |
| 6 | g.7584230T>C | CA10627604 | DSP | c.5639T>C (p.Ile1880Thr) c.6968T>C (p.Ile2323Thr) c.5171T>C (p.Ile1724Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584230T>G | CA362691944 | DSP | c.5639T>G (p.Ile1880Ser) c.6968T>G (p.Ile2323Ser) c.5171T>G (p.Ile1724Ser) | |
| 6 | g.7584230T= | CA1608610616 | DSP | c.5639T= (p.Ile1880=) c.6968T= (p.Ile2323=) c.5171T= (p.Ile1724=) | |
| 6 | g.7584231T>A | CA448716005 | DSP | c.5640T>A (p.Ile1880=) c.6969T>A (p.Ile2323=) c.5172T>A (p.Ile1724=) | |
| 6 | g.7584231T>C | CA448716007 | DSP | c.5640T>C (p.Ile1880=) c.6969T>C (p.Ile2323=) c.5172T>C (p.Ile1724=) | |
| 6 | g.7584231T>G | CA362691945 | DSP | c.5640T>G (p.Ile1880Met) c.6969T>G (p.Ile2323Met) c.5172T>G (p.Ile1724Met) | |
| 6 | g.7584232G>A | CA362691946 | DSP | c.5641G>A (p.Glu1881Lys) c.6970G>A (p.Glu2324Lys) c.5173G>A (p.Glu1725Lys) | |
| 6 | g.7584232G>C | CA362691947 | DSP | c.5641G>C (p.Glu1881Gln) c.6970G>C (p.Glu2324Gln) c.5173G>C (p.Glu1725Gln) | |
| 6 | g.7584232G>T | CA362691948 | DSP | c.5641G>T (p.Glu1881Ter) c.6970G>T (p.Glu2324Ter) c.5173G>T (p.Glu1725Ter) | |
| 6 | g.7584233A>C | CA362691949 | DSP | c.5642A>C (p.Glu1881Ala) c.6971A>C (p.Glu2324Ala) c.5174A>C (p.Glu1725Ala) | |
| 6 | g.7584233A>G | CA362691950 | DSP | c.5642A>G (p.Glu1881Gly) c.6971A>G (p.Glu2324Gly) c.5174A>G (p.Glu1725Gly) | |
| 6 | g.7584233A>T | CA362691951 | DSP | c.5642A>T (p.Glu1881Val) c.6971A>T (p.Glu2324Val) c.5174A>T (p.Glu1725Val) | |
| 6 | g.7584234G>A | CA448716011 | DSP | c.5643G>A (p.Glu1881=) c.6972G>A (p.Glu2324=) c.5175G>A (p.Glu1725=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584234G>C | CA362691952 | DSP | c.5643G>C (p.Glu1881Asp) c.6972G>C (p.Glu2324Asp) c.5175G>C (p.Glu1725Asp) | |
| 6 | g.7584234G>T | CA362691953 | DSP | c.5643G>T (p.Glu1881Asp) c.6972G>T (p.Glu2324Asp) c.5175G>T (p.Glu1725Asp) | |
| 6 | g.7584235T>A | CA362691954 | DSP | c.5644T>A (p.Phe1882Ile) c.6973T>A (p.Phe2325Ile) c.5176T>A (p.Phe1726Ile) | |
| 6 | g.7584235T>C | CA362691955 | DSP | c.5644T>C (p.Phe1882Leu) c.6973T>C (p.Phe2325Leu) c.5176T>C (p.Phe1726Leu) | |
| 6 | g.7584235T>G | CA362691956 | DSP | c.5644T>G (p.Phe1882Val) c.6973T>G (p.Phe2325Val) c.5176T>G (p.Phe1726Val) | |
| 6 | g.7584236T>A | CA362691959 | DSP | c.5645T>A (p.Phe1882Tyr) c.6974T>A (p.Phe2325Tyr) c.5177T>A (p.Phe1726Tyr) | |
| 6 | g.7584236T>C | CA362691957 | DSP | c.5645T>C (p.Phe1882Ser) c.6974T>C (p.Phe2325Ser) c.5177T>C (p.Phe1726Ser) | |
| 6 | g.7584236T>G | CA362691958 | DSP | c.5645T>G (p.Phe1882Cys) c.6974T>G (p.Phe2325Cys) c.5177T>G (p.Phe1726Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584236T= | CA1608610626 | DSP | c.5645T= (p.Phe1882=) c.6974T= (p.Phe2325=) c.5177T= (p.Phe1726=) | |
| 6 | g.7584237C>A | CA362691960 | DSP | c.5646C>A (p.Phe1882Leu) c.6975C>A (p.Phe2325Leu) c.5178C>A (p.Phe1726Leu) | |
| 6 | g.7584237C>G | CA362691961 | DSP | c.5646C>G (p.Phe1882Leu) c.6975C>G (p.Phe2325Leu) c.5178C>G (p.Phe1726Leu) | |
| 6 | g.7584237C>T | CA448716016 | DSP | c.5646C>T (p.Phe1882=) c.6975C>T (p.Phe2325=) c.5178C>T (p.Phe1726=) | |
| 6 | g.7584238A>C | CA362691962 | DSP | c.5647A>C (p.Lys1883Gln) c.6976A>C (p.Lys2326Gln) c.5179A>C (p.Lys1727Gln) | |
| 6 | g.7584238A>G | CA362691963 | DSP | c.5647A>G (p.Lys1883Glu) c.6976A>G (p.Lys2326Glu) c.5179A>G (p.Lys1727Glu) | |
| 6 | g.7584238A>T | CA362691964 | DSP | c.5647A>T (p.Lys1883Ter) c.6976A>T (p.Lys2326Ter) c.5179A>T (p.Lys1727Ter) | |
| 6 | g.7584239A>C | CA362691965 | DSP | c.5648A>C (p.Lys1883Thr) c.6977A>C (p.Lys2326Thr) c.5180A>C (p.Lys1727Thr) | |
| 6 | g.7584239A>G | CA362691966 | DSP | c.5648A>G (p.Lys1883Arg) c.6977A>G (p.Lys2326Arg) c.5180A>G (p.Lys1727Arg) | |
| 6 | g.7584239A>T | CA362691967 | DSP | c.5648A>T (p.Lys1883Ile) c.6977A>T (p.Lys2326Ile) c.5180A>T (p.Lys1727Ile) | |
| 6 | g.7584240A>C | CA362691968 | DSP | c.5649A>C (p.Lys1883Asn) c.6978A>C (p.Lys2326Asn) c.5181A>C (p.Lys1727Asn) | |
| 6 | g.7584240A>G | CA448716019 | DSP | c.5649A>G (p.Lys1883=) c.6978A>G (p.Lys2326=) c.5181A>G (p.Lys1727=) | |
| 6 | g.7584240A>T | CA362691969 | DSP | c.5649A>T (p.Lys1883Asn) c.6978A>T (p.Lys2326Asn) c.5181A>T (p.Lys1727Asn) | COSMIC |
| 6 | g.7584241G>A | CA362691972 | DSP | c.5650G>A (p.Glu1884Lys) c.6979G>A (p.Glu2327Lys) c.5182G>A (p.Glu1728Lys) | |
| 6 | g.7584241G>C | CA362691971 | DSP | c.5650G>C (p.Glu1884Gln) c.6979G>C (p.Glu2327Gln) c.5182G>C (p.Glu1728Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584241G= | CA1608610634 | DSP | c.5650G= (p.Glu1884=) c.6979G= (p.Glu2327=) c.5182G= (p.Glu1728=) | |
| 6 | g.7584241G>T | CA362691970 | DSP | c.5650G>T (p.Glu1884Ter) c.6979G>T (p.Glu2327Ter) c.5182G>T (p.Glu1728Ter) | |
| 6 | g.7584242A>C | CA362691973 | DSP | c.5651A>C (p.Glu1884Ala) c.6980A>C (p.Glu2327Ala) c.5183A>C (p.Glu1728Ala) | |
| 6 | g.7584242A>G | CA362691974 | DSP | c.5651A>G (p.Glu1884Gly) c.6980A>G (p.Glu2327Gly) c.5183A>G (p.Glu1728Gly) | |
| 6 | g.7584242A>T | CA362691975 | DSP | c.5651A>T (p.Glu1884Val) c.6980A>T (p.Glu2327Val) c.5183A>T (p.Glu1728Val) | |
| 6 | g.7584243G>A | CA448716021 | DSP | c.5652G>A (p.Glu1884=) c.6981G>A (p.Glu2327=) c.5184G>A (p.Glu1728=) | gnomAD v4 |
| 6 | g.7584243G>C | CA362691976 | DSP | c.5652G>C (p.Glu1884Asp) c.6981G>C (p.Glu2327Asp) c.5184G>C (p.Glu1728Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584243G= | CA1608610639 | DSP | c.5652G= (p.Glu1884=) c.6981G= (p.Glu2327=) c.5184G= (p.Glu1728=) | |
| 6 | g.7584243G>T | CA362691977 | DSP | c.5652G>T (p.Glu1884Asp) c.6981G>T (p.Glu2327Asp) c.5184G>T (p.Glu1728Asp) | |
| 6 | g.7584244A= | CA1608610646 | DSP | c.5653A= (p.Lys1885=) c.6982A= (p.Lys2328=) c.5185A= (p.Lys1729=) | |
| 6 | g.7584244A>C | CA362691978 | DSP | c.5653A>C (p.Lys1885Gln) c.6982A>C (p.Lys2328Gln) c.5185A>C (p.Lys1729Gln) | |
| 6 | g.7584244A>G | CA362691979 | DSP | c.5653A>G (p.Lys1885Glu) c.6982A>G (p.Lys2328Glu) c.5185A>G (p.Lys1729Glu) | dbSNP gnomAD v4 |
| 6 | g.7584244A>T | CA362691980 | DSP | c.5653A>T (p.Lys1885Ter) c.6982A>T (p.Lys2328Ter) c.5185A>T (p.Lys1729Ter) | |
| 6 | g.7584245A>C | CA362691981 | DSP | c.5654A>C (p.Lys1885Thr) c.6983A>C (p.Lys2328Thr) c.5186A>C (p.Lys1729Thr) | |
| 6 | g.7584245A>G | CA362691982 | DSP | c.5654A>G (p.Lys1885Arg) c.6983A>G (p.Lys2328Arg) c.5186A>G (p.Lys1729Arg) | |
| 6 | g.7584245A>T | CA362691983 | DSP | c.5654A>T (p.Lys1885Met) c.6983A>T (p.Lys2328Met) c.5186A>T (p.Lys1729Met) | |
| 6 | g.7584246G>A | CA448716023 | DSP | c.5655G>A (p.Lys1885=) c.6984G>A (p.Lys2328=) c.5187G>A (p.Lys1729=) | |
| 6 | g.7584246G>C | CA362691984 | DSP | c.5655G>C (p.Lys1885Asn) c.6984G>C (p.Lys2328Asn) c.5187G>C (p.Lys1729Asn) | |
| 6 | g.7584246G= | CA1608610650 | DSP | c.5655G= (p.Lys1885=) c.6984G= (p.Lys2328=) c.5187G= (p.Lys1729=) | |
| 6 | g.7584246G>T | CA048809 | DSP | c.5655G>T (p.Lys1885Asn) c.6984G>T (p.Lys2328Asn) c.5187G>T (p.Lys1729Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584247C>A | CA362691985 | DSP | c.5656C>A (p.Leu1886Ile) c.6985C>A (p.Leu2329Ile) c.5188C>A (p.Leu1730Ile) | |
| 6 | g.7584247C>G | CA362691987 | DSP | c.5656C>G (p.Leu1886Val) c.6985C>G (p.Leu2329Val) c.5188C>G (p.Leu1730Val) | |
| 6 | g.7584247C>T | CA362691986 | DSP | c.5656C>T (p.Leu1886Phe) c.6985C>T (p.Leu2329Phe) c.5188C>T (p.Leu1730Phe) | |
| 6 | g.7584248T>A | CA362691988 | DSP | c.5657T>A (p.Leu1886His) c.6986T>A (p.Leu2329His) c.5189T>A (p.Leu1730His) | |
| 6 | g.7584248T>C | CA362691989 | DSP | c.5657T>C (p.Leu1886Pro) c.6986T>C (p.Leu2329Pro) c.5189T>C (p.Leu1730Pro) | gnomAD v4 |
| 6 | g.7584248T>G | CA362691990 | DSP | c.5657T>G (p.Leu1886Arg) c.6986T>G (p.Leu2329Arg) c.5189T>G (p.Leu1730Arg) | |
| 6 | g.7584249C>A | CA448716025 | DSP | c.5658C>A (p.Leu1886=) c.6987C>A (p.Leu2329=) c.5190C>A (p.Leu1730=) | |
| 6 | g.7584249C>G | CA448716026 | DSP | c.5658C>G (p.Leu1886=) c.6987C>G (p.Leu2329=) c.5190C>G (p.Leu1730=) | COSMIC |
| 6 | g.7584249C>T | CA448716027 | DSP | c.5658C>T (p.Leu1886=) c.6987C>T (p.Leu2329=) c.5190C>T (p.Leu1730=) | gnomAD v4 |
| 6 | g.7584250C>A | CA362691991 | DSP | c.5659C>A (p.Leu1887Met) c.6988C>A (p.Leu2330Met) c.5191C>A (p.Leu1731Met) | |
| 6 | g.7584250C= | CA1608610663 | DSP | c.5659C= (p.Leu1887=) c.6988C= (p.Leu2330=) c.5191C= (p.Leu1731=) | |
| 6 | g.7584250C>G | CA362691992 | DSP | c.5659C>G (p.Leu1887Val) c.6988C>G (p.Leu2330Val) c.5191C>G (p.Leu1731Val) | ClinVar dbSNP |
| 6 | g.7584250C>T | CA448716031 | DSP | c.5659C>T (p.Leu1887=) c.6988C>T (p.Leu2330=) c.5191C>T (p.Leu1731=) | COSMIC |
| 6 | g.7584251T>A | CA362691993 | DSP | c.5660T>A (p.Leu1887Gln) c.6989T>A (p.Leu2330Gln) c.5192T>A (p.Leu1731Gln) | |
| 6 | g.7584251T>C | CA362691994 | DSP | c.5660T>C (p.Leu1887Pro) c.6989T>C (p.Leu2330Pro) c.5192T>C (p.Leu1731Pro) | |
| 6 | g.7584251T>G | CA048826 | DSP | c.5660T>G (p.Leu1887Arg) c.6989T>G (p.Leu2330Arg) c.5192T>G (p.Leu1731Arg) | dbSNP ExAC gnomAD v2 |
| 6 | g.7584251T= | CA1608610670 | DSP | c.5660T= (p.Leu1887=) c.6989T= (p.Leu2330=) c.5192T= (p.Leu1731=) | |
| 6 | g.7584252G>A | CA448716032 | DSP | c.5661G>A (p.Leu1887=) c.6990G>A (p.Leu2330=) c.5193G>A (p.Leu1731=) | |
| 6 | g.7584252G>C | CA448716033 | DSP | c.5661G>C (p.Leu1887=) c.6990G>C (p.Leu2330=) c.5193G>C (p.Leu1731=) | |
| 6 | g.7584252G>T | CA448716034 | DSP | c.5661G>T (p.Leu1887=) c.6990G>T (p.Leu2330=) c.5193G>T (p.Leu1731=) | |
| 6 | g.7584253T>A | CA362691995 | DSP | c.5662T>A (p.Ser1888Thr) c.6991T>A (p.Ser2331Thr) c.5194T>A (p.Ser1732Thr) | |
| 6 | g.7584253T>C | CA362691996 | DSP | c.5662T>C (p.Ser1888Pro) c.6991T>C (p.Ser2331Pro) c.5194T>C (p.Ser1732Pro) | gnomAD v4 |
| 6 | g.7584253T>G | CA362691997 | DSP | c.5662T>G (p.Ser1888Ala) c.6991T>G (p.Ser2331Ala) c.5194T>G (p.Ser1732Ala) | |
| 6 | g.7584254C>A | CA362692000 | DSP | c.5663C>A (p.Ser1888Tyr) c.6992C>A (p.Ser2331Tyr) c.5195C>A (p.Ser1732Tyr) | |
| 6 | g.7584254C>G | CA362691999 | DSP | c.5663C>G (p.Ser1888Cys) c.6992C>G (p.Ser2331Cys) c.5195C>G (p.Ser1732Cys) | ClinVar gnomAD v4 |
| 6 | g.7584254C>T | CA362691998 | DSP | c.5663C>T (p.Ser1888Phe) c.6992C>T (p.Ser2331Phe) c.5195C>T (p.Ser1732Phe) | gnomAD v4 |
| 6 | g.7584255T>A | CA448716036 | DSP | c.5664T>A (p.Ser1888=) c.6993T>A (p.Ser2331=) c.5196T>A (p.Ser1732=) | |
| 6 | g.7584255T>C | CA448716037 | DSP | c.5664T>C (p.Ser1888=) c.6993T>C (p.Ser2331=) c.5196T>C (p.Ser1732=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584255T>G | CA048840 | DSP | c.5664T>G (p.Ser1888=) c.6993T>G (p.Ser2331=) c.5196T>G (p.Ser1732=) | dbSNP ExAC gnomAD v2 |
| 6 | g.7584255T= | CA1608610678 | DSP | c.5664T= (p.Ser1888=) c.6993T= (p.Ser2331=) c.5196T= (p.Ser1732=) | |
| 6 | g.7584255_7584256insC | CA133975489 | DSP | c.5664_5665insC (p.Ala1889ArgfsTer9) c.6993_6994insC (p.Ala2332ArgfsTer9) c.5196_5197insC (p.Ala1733ArgfsTer9) | dbSNP |
| 6 | g.7584256G>A | CA362692002 | DSP | c.5665G>A (p.Ala1889Thr) c.6994G>A (p.Ala2332Thr) c.5197G>A (p.Ala1733Thr) | |
| 6 | g.7584256G>C | CA362692003 | DSP | c.5665G>C (p.Ala1889Pro) c.6994G>C (p.Ala2332Pro) c.5197G>C (p.Ala1733Pro) | |
| 6 | g.7584256G>T | CA362692001 | DSP | c.5665G>T (p.Ala1889Ser) c.6994G>T (p.Ala2332Ser) c.5197G>T (p.Ala1733Ser) | |
| 6 | g.7584257C>A | CA362692004 | DSP | c.5666C>A (p.Ala1889Glu) c.6995C>A (p.Ala2332Glu) c.5198C>A (p.Ala1733Glu) | |
| 6 | g.7584257C>G | CA362692005 | DSP | c.5666C>G (p.Ala1889Gly) c.6995C>G (p.Ala2332Gly) c.5198C>G (p.Ala1733Gly) | |
| 6 | g.7584257C>T | CA362692006 | DSP | c.5666C>T (p.Ala1889Val) c.6995C>T (p.Ala2332Val) c.5198C>T (p.Ala1733Val) | |
| 6 | g.7584258A>C | CA448716041 | DSP | c.5667A>C (p.Ala1889=) c.6996A>C (p.Ala2332=) c.5199A>C (p.Ala1733=) | |
| 6 | g.7584258A>G | CA448716042 | DSP | c.5667A>G (p.Ala1889=) c.6996A>G (p.Ala2332=) c.5199A>G (p.Ala1733=) | |
| 6 | g.7584258A>T | CA448716043 | DSP | c.5667A>T (p.Ala1889=) c.6996A>T (p.Ala2332=) c.5199A>T (p.Ala1733=) | |
| 6 | g.7584259G>A | CA362692007 | DSP | c.5668G>A (p.Glu1890Lys) c.6997G>A (p.Glu2333Lys) c.5200G>A (p.Glu1734Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584259G>C | CA362692008 | DSP | c.5668G>C (p.Glu1890Gln) c.6997G>C (p.Glu2333Gln) c.5200G>C (p.Glu1734Gln) | |
| 6 | g.7584259G= | CA1608610684 | DSP | c.5668G= (p.Glu1890=) c.6997G= (p.Glu2333=) c.5200G= (p.Glu1734=) | |
| 6 | g.7584259G>T | CA362692009 | DSP | c.5668G>T (p.Glu1890Ter) c.6997G>T (p.Glu2333Ter) c.5200G>T (p.Glu1734Ter) | |
| 6 | g.7584260A>C | CA362692010 | DSP | c.5669A>C (p.Glu1890Ala) c.6998A>C (p.Glu2333Ala) c.5201A>C (p.Glu1734Ala) | |
| 6 | g.7584260A>G | CA362692011 | DSP | c.5669A>G (p.Glu1890Gly) c.6998A>G (p.Glu2333Gly) c.5201A>G (p.Glu1734Gly) | |
| 6 | g.7584260A>T | CA362692012 | DSP | c.5669A>T (p.Glu1890Val) c.6998A>T (p.Glu2333Val) c.5201A>T (p.Glu1734Val) | |
| 6 | g.7584261A>C | CA362692013 | DSP | c.5670A>C (p.Glu1890Asp) c.6999A>C (p.Glu2333Asp) c.5202A>C (p.Glu1734Asp) | |
| 6 | g.7584261A>G | CA448716047 | DSP | c.5670A>G (p.Glu1890=) c.6999A>G (p.Glu2333=) c.5202A>G (p.Glu1734=) | |
| 6 | g.7584261A>T | CA362692014 | DSP | c.5670A>T (p.Glu1890Asp) c.6999A>T (p.Glu2333Asp) c.5202A>T (p.Glu1734Asp) | |
| 6 | g.7584262C>A | CA448716050 | DSP | c.5671C>A (p.Arg1891=) c.7000C>A (p.Arg2334=) c.5203C>A (p.Arg1735=) | |
| 6 | g.7584262C= | CA1608610694 | DSP | c.5671C= (p.Arg1891=) c.7000C= (p.Arg2334=) c.5203C= (p.Arg1735=) | |
| 6 | g.7584262C>G | CA362692015 | DSP | c.5671C>G (p.Arg1891Gly) c.7000C>G (p.Arg2334Gly) c.5203C>G (p.Arg1735Gly) | |
| 6 | g.7584262C>T | CA048886 | DSP | c.5671C>T (p.Arg1891Ter) c.7000C>T (p.Arg2334Ter) c.5203C>T (p.Arg1735Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584263G>A | CA133975498 | DSP | c.5672G>A (p.Arg1891Gln) c.7001G>A (p.Arg2334Gln) c.5204G>A (p.Arg1735Gln) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7584263G>C | CA048910 | DSP | c.5672G>C (p.Arg1891Pro) c.7001G>C (p.Arg2334Pro) c.5204G>C (p.Arg1735Pro) | dbSNP ExAC |
| 6 | g.7584263G= | CA1608610709 | DSP | c.5672G= (p.Arg1891=) c.7001G= (p.Arg2334=) c.5204G= (p.Arg1735=) | |
| 6 | g.7584263G>T | CA362692016 | DSP | c.5672G>T (p.Arg1891Leu) c.7001G>T (p.Arg2334Leu) c.5204G>T (p.Arg1735Leu) | |
| 6 | g.7584264A>C | CA448716055 | DSP | c.5673A>C (p.Arg1891=) c.7002A>C (p.Arg2334=) c.5205A>C (p.Arg1735=) | |
| 6 | g.7584264A>G | CA448716054 | DSP | c.5673A>G (p.Arg1891=) c.7002A>G (p.Arg2334=) c.5205A>G (p.Arg1735=) | |
| 6 | g.7584264A>T | CA448716052 | DSP | c.5673A>T (p.Arg1891=) c.7002A>T (p.Arg2334=) c.5205A>T (p.Arg1735=) | |
| 6 | g.7584265G>A | CA362692017 | DSP | c.5674G>A (p.Ala1892Thr) c.7003G>A (p.Ala2335Thr) c.5206G>A (p.Ala1736Thr) | |
| 6 | g.7584265G>C | CA362692018 | DSP | c.5674G>C (p.Ala1892Pro) c.7003G>C (p.Ala2335Pro) c.5206G>C (p.Ala1736Pro) | |
| 6 | g.7584265G>T | CA362692019 | DSP | c.5674G>T (p.Ala1892Ser) c.7003G>T (p.Ala2335Ser) c.5206G>T (p.Ala1736Ser) | |
| 6 | g.7584266C>A | CA362692020 | DSP | c.5675C>A (p.Ala1892Asp) c.7004C>A (p.Ala2335Asp) c.5207C>A (p.Ala1736Asp) | |
| 6 | g.7584266C>G | CA362692021 | DSP | c.5675C>G (p.Ala1892Gly) c.7004C>G (p.Ala2335Gly) c.5207C>G (p.Ala1736Gly) | |
| 6 | g.7584266C>T | CA362692022 | DSP | c.5675C>T (p.Ala1892Val) c.7004C>T (p.Ala2335Val) c.5207C>T (p.Ala1736Val) | ClinVar |
| 6 | g.7584267T>A | CA448716057 | DSP | c.5676T>A (p.Ala1892=) c.7005T>A (p.Ala2335=) c.5208T>A (p.Ala1736=) | |
| 6 | g.7584267T>C | CA448716058 | DSP | c.5676T>C (p.Ala1892=) c.7005T>C (p.Ala2335=) c.5208T>C (p.Ala1736=) | gnomAD v4 |
| 6 | g.7584267T>G | CA448716059 | DSP | c.5676T>G (p.Ala1892=) c.7005T>G (p.Ala2335=) c.5208T>G (p.Ala1736=) | |
| 6 | g.7584268G>A | CA362692023 | DSP | c.5677G>A (p.Val1893Ile) c.7006G>A (p.Val2336Ile) c.5209G>A (p.Val1737Ile) | |
| 6 | g.7584268G>C | CA362692024 | DSP | c.5677G>C (p.Val1893Leu) c.7006G>C (p.Val2336Leu) c.5209G>C (p.Val1737Leu) | |
| 6 | g.7584268G>T | CA362692025 | DSP | c.5677G>T (p.Val1893Phe) c.7006G>T (p.Val2336Phe) c.5209G>T (p.Val1737Phe) | |
| 6 | g.7584269T>A | CA362692028 | DSP | c.5678T>A (p.Val1893Asp) c.7007T>A (p.Val2336Asp) c.5210T>A (p.Val1737Asp) | |
| 6 | g.7584269T>C | CA362692027 | DSP | c.5678T>C (p.Val1893Ala) c.7007T>C (p.Val2336Ala) c.5210T>C (p.Val1737Ala) | |
| 6 | g.7584269T>G | CA362692026 | DSP | c.5678T>G (p.Val1893Gly) c.7007T>G (p.Val2336Gly) c.5210T>G (p.Val1737Gly) | |
| 6 | g.7584270C>A | CA448716064 | DSP | c.5679C>A (p.Val1893=) c.7008C>A (p.Val2336=) c.5211C>A (p.Val1737=) | |
| 6 | g.7584270C>G | CA448716067 | DSP | c.5679C>G (p.Val1893=) c.7008C>G (p.Val2336=) c.5211C>G (p.Val1737=) | |
| 6 | g.7584270C>T | CA448716066 | DSP | c.5679C>T (p.Val1893=) c.7008C>T (p.Val2336=) c.5211C>T (p.Val1737=) | |
| 6 | g.7584271A>C | CA362692029 | DSP | c.5680A>C (p.Thr1894Pro) c.7009A>C (p.Thr2337Pro) c.5212A>C (p.Thr1738Pro) | |
| 6 | g.7584271A>G | CA362692030 | DSP | c.5680A>G (p.Thr1894Ala) c.7009A>G (p.Thr2337Ala) c.5212A>G (p.Thr1738Ala) | ClinVar |
| 6 | g.7584271A>T | CA362692031 | DSP | c.5680A>T (p.Thr1894Ser) c.7009A>T (p.Thr2337Ser) c.5212A>T (p.Thr1738Ser) | |
| 6 | g.7584272C>A | CA362692032 | DSP | c.5681C>A (p.Thr1894Asn) c.7010C>A (p.Thr2337Asn) c.5213C>A (p.Thr1738Asn) | gnomAD v4 |
| 6 | g.7584272C>G | CA362692033 | DSP | c.5681C>G (p.Thr1894Ser) c.7010C>G (p.Thr2337Ser) c.5213C>G (p.Thr1738Ser) | |
| 6 | g.7584272C>T | CA362692034 | DSP | c.5681C>T (p.Thr1894Ile) c.7010C>T (p.Thr2337Ile) c.5213C>T (p.Thr1738Ile) | |
| 6 | g.7584275_7584289del | CA2677219031 | DSP | c.5684_5698del (p.Gly1895_Pro1899del) c.7013_7027del (p.Gly2338_Pro2342del) c.5216_5230del (p.Gly1739_Pro1743del) | gnomAD v4 |
| 6 | g.7584273T>A | CA448716071 | DSP | c.5682T>A (p.Thr1894=) c.7011T>A (p.Thr2337=) c.5214T>A (p.Thr1738=) | |
| 6 | g.7584273T>C | CA448716072 | DSP | c.5682T>C (p.Thr1894=) c.7011T>C (p.Thr2337=) c.5214T>C (p.Thr1738=) | |
| 6 | g.7584273T>G | CA448716073 | DSP | c.5682T>G (p.Thr1894=) c.7011T>G (p.Thr2337=) c.5214T>G (p.Thr1738=) | |
| 6 | g.7584274G>A | CA362692035 | DSP | c.5683G>A (p.Gly1895Arg) c.7012G>A (p.Gly2338Arg) c.5215G>A (p.Gly1739Arg) | gnomAD v4 |
| 6 | g.7584274G>C | CA362692036 | DSP | c.5683G>C (p.Gly1895Arg) c.7012G>C (p.Gly2338Arg) c.5215G>C (p.Gly1739Arg) | |
| 6 | g.7584274G>T | CA362692037 | DSP | c.5683G>T (p.Gly1895Trp) c.7012G>T (p.Gly2338Trp) c.5215G>T (p.Gly1739Trp) | |
| 6 | g.7584275G>A | CA362692038 | DSP | c.5684G>A (p.Gly1895Glu) c.7013G>A (p.Gly2338Glu) c.5216G>A (p.Gly1739Glu) | |
| 6 | g.7584275G>C | CA362692039 | DSP | c.5684G>C (p.Gly1895Ala) c.7013G>C (p.Gly2338Ala) c.5216G>C (p.Gly1739Ala) | |
| 6 | g.7584275G>T | CA362692040 | DSP | c.5684G>T (p.Gly1895Val) c.7013G>T (p.Gly2338Val) c.5216G>T (p.Gly1739Val) | |
| 6 | g.7584276G>A | CA448716077 | DSP | c.5685G>A (p.Gly1895=) c.7014G>A (p.Gly2338=) c.5217G>A (p.Gly1739=) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7584276G>C | CA133975521 | DSP | c.5685G>C (p.Gly1895=) c.7014G>C (p.Gly2338=) c.5217G>C (p.Gly1739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584276G= | CA1608610718 | DSP | c.5685G= (p.Gly1895=) c.7014G= (p.Gly2338=) c.5217G= (p.Gly1739=) | |
| 6 | g.7584276G>T | CA448716079 | DSP | c.5685G>T (p.Gly1895=) c.7014G>T (p.Gly2338=) c.5217G>T (p.Gly1739=) | ClinVar |
| 6 | g.7584277T>A | CA362692042 | DSP | c.5686T>A (p.Tyr1896Asn) c.7015T>A (p.Tyr2339Asn) c.5218T>A (p.Tyr1740Asn) | |
| 6 | g.7584277T>C | CA362692043 | DSP | c.5686T>C (p.Tyr1896His) c.7015T>C (p.Tyr2339His) c.5218T>C (p.Tyr1740His) | gnomAD v4 |
| 6 | g.7584277T>G | CA362692041 | DSP | c.5686T>G (p.Tyr1896Asp) c.7015T>G (p.Tyr2339Asp) c.5218T>G (p.Tyr1740Asp) | |
| 6 | g.7584278A= | CA1608610729 | DSP | c.5687A= (p.Tyr1896=) c.7016A= (p.Tyr2339=) c.5219A= (p.Tyr1740=) | |
| 6 | g.7584278A>C | CA362692044 | DSP | c.5687A>C (p.Tyr1896Ser) c.7016A>C (p.Tyr2339Ser) c.5219A>C (p.Tyr1740Ser) | |
| 6 | g.7584278A>G | CA362692045 | DSP | c.5687A>G (p.Tyr1896Cys) c.7016A>G (p.Tyr2339Cys) c.5219A>G (p.Tyr1740Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584278A>T | CA362692046 | DSP | c.5687A>T (p.Tyr1896Phe) c.7016A>T (p.Tyr2339Phe) c.5219A>T (p.Tyr1740Phe) | |
| 6 | g.7584279T>A | CA362692047 | DSP | c.5688T>A (p.Tyr1896Ter) c.7017T>A (p.Tyr2339Ter) c.5220T>A (p.Tyr1740Ter) | |
| 6 | g.7584279T>C | CA133975531 | DSP | c.5688T>C (p.Tyr1896=) c.7017T>C (p.Tyr2339=) c.5220T>C (p.Tyr1740=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584279T>G | CA362692048 | DSP | c.5688T>G (p.Tyr1896Ter) c.7017T>G (p.Tyr2339Ter) c.5220T>G (p.Tyr1740Ter) | |
| 6 | g.7584279T= | CA1608610749 | DSP | c.5688T= (p.Tyr1896=) c.7017T= (p.Tyr2339=) c.5220T= (p.Tyr1740=) | |
| 6 | g.7584280A>C | CA362692049 | DSP | c.5689A>C (p.Asn1897His) c.7018A>C (p.Asn2340His) c.5221A>C (p.Asn1741His) | |
| 6 | g.7584280A>G | CA362692051 | DSP | c.5689A>G (p.Asn1897Asp) c.7018A>G (p.Asn2340Asp) c.5221A>G (p.Asn1741Asp) | |
| 6 | g.7584280A>T | CA362692050 | DSP | c.5689A>T (p.Asn1897Tyr) c.7018A>T (p.Asn2340Tyr) c.5221A>T (p.Asn1741Tyr) | |
| 6 | g.7584281A= | CA1608610766 | DSP | c.5690A= (p.Asn1897=) c.7019A= (p.Asn2340=) c.5222A= (p.Asn1741=) | |
| 6 | g.7584281A>C | CA362692052 | DSP | c.5690A>C (p.Asn1897Thr) c.7019A>C (p.Asn2340Thr) c.5222A>C (p.Asn1741Thr) | |
| 6 | g.7584281A>G | CA362692053 | DSP | c.5690A>G (p.Asn1897Ser) c.7019A>G (p.Asn2340Ser) c.5222A>G (p.Asn1741Ser) | ClinVar dbSNP |
| 6 | g.7584281A>T | CA362692054 | DSP | c.5690A>T (p.Asn1897Ile) c.7019A>T (p.Asn2340Ile) c.5222A>T (p.Asn1741Ile) | |
| 6 | g.7584282T>A | CA362692055 | DSP | c.5691T>A (p.Asn1897Lys) c.7020T>A (p.Asn2340Lys) c.5223T>A (p.Asn1741Lys) | |
| 6 | g.7584282T>C | CA448716081 | DSP | c.5691T>C (p.Asn1897=) c.7020T>C (p.Asn2340=) c.5223T>C (p.Asn1741=) | ClinVar dbSNP |
| 6 | g.7584282T>G | CA362692056 | DSP | c.5691T>G (p.Asn1897Lys) c.7020T>G (p.Asn2340Lys) c.5223T>G (p.Asn1741Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584282T= | CA1608610771 | DSP | c.5691T= (p.Asn1897=) c.7020T= (p.Asn2340=) c.5223T= (p.Asn1741=) | |
| 6 | g.7584283G>A | CA007104 | DSP | c.5692G>A (p.Asp1898Asn) c.7021G>A (p.Asp2341Asn) c.5224G>A (p.Asp1742Asn) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584283G>C | CA362692058 | DSP | c.5692G>C (p.Asp1898His) c.7021G>C (p.Asp2341His) c.5224G>C (p.Asp1742His) | |
| 6 | g.7584283G= | CA1608610780 | DSP | c.5692G= (p.Asp1898=) c.7021G= (p.Asp2341=) c.5224G= (p.Asp1742=) | |
| 6 | g.7584283G>T | CA362692057 | DSP | c.5692G>T (p.Asp1898Tyr) c.7021G>T (p.Asp2341Tyr) c.5224G>T (p.Asp1742Tyr) | |
| 6 | g.7584284A>C | CA362692059 | DSP | c.5693A>C (p.Asp1898Ala) c.7022A>C (p.Asp2341Ala) c.5225A>C (p.Asp1742Ala) | |
| 6 | g.7584284A>G | CA362692061 | DSP | c.5693A>G (p.Asp1898Gly) c.7022A>G (p.Asp2341Gly) c.5225A>G (p.Asp1742Gly) | |
| 6 | g.7584284A>T | CA362692060 | DSP | c.5693A>T (p.Asp1898Val) c.7022A>T (p.Asp2341Val) c.5225A>T (p.Asp1742Val) | |
| 6 | g.7584285T>A | CA362692062 | DSP | c.5694T>A (p.Asp1898Glu) c.7023T>A (p.Asp2341Glu) c.5226T>A (p.Asp1742Glu) | |
| 6 | g.7584285T>C | CA448716086 | DSP | c.5694T>C (p.Asp1898=) c.7023T>C (p.Asp2341=) c.5226T>C (p.Asp1742=) | |
| 6 | g.7584285T>G | CA362692063 | DSP | c.5694T>G (p.Asp1898Glu) c.7023T>G (p.Asp2341Glu) c.5226T>G (p.Asp1742Glu) | |
| 6 | g.7584286C>A | CA362692064 | DSP | c.5695C>A (p.Pro1899Thr) c.7024C>A (p.Pro2342Thr) c.5227C>A (p.Pro1743Thr) | |
| 6 | g.7584286C>G | CA362692065 | DSP | c.5695C>G (p.Pro1899Ala) c.7024C>G (p.Pro2342Ala) c.5227C>G (p.Pro1743Ala) | |
| 6 | g.7584286C>T | CA362692066 | DSP | c.5695C>T (p.Pro1899Ser) c.7024C>T (p.Pro2342Ser) c.5227C>T (p.Pro1743Ser) | ClinVar |
| 6 | g.7584287C>A | CA362692067 | DSP | c.5696C>A (p.Pro1899His) c.7025C>A (p.Pro2342His) c.5228C>A (p.Pro1743His) | |
| 6 | g.7584287C= | CA1608610786 | DSP | c.5696C= (p.Pro1899=) c.7025C= (p.Pro2342=) c.5228C= (p.Pro1743=) | |
| 6 | g.7584287C>G | CA362692068 | DSP | c.5696C>G (p.Pro1899Arg) c.7025C>G (p.Pro2342Arg) c.5228C>G (p.Pro1743Arg) | |
| 6 | g.7584287C>T | CA362692069 | DSP | c.5696C>T (p.Pro1899Leu) c.7025C>T (p.Pro2342Leu) c.5228C>T (p.Pro1743Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584288T>A | CA448716090 | DSP | c.5697T>A (p.Pro1899=) c.7026T>A (p.Pro2342=) c.5229T>A (p.Pro1743=) | |
| 6 | g.7584288T>C | CA048923 | DSP | c.5697T>C (p.Pro1899=) c.7026T>C (p.Pro2342=) c.5229T>C (p.Pro1743=) | dbSNP ExAC gnomAD v2 |
| 6 | g.7584288T>G | CA448716091 | DSP | c.5697T>G (p.Pro1899=) c.7026T>G (p.Pro2342=) c.5229T>G (p.Pro1743=) | |
| 6 | g.7584288T= | CA1608610795 | DSP | c.5697T= (p.Pro1899=) c.7026T= (p.Pro2342=) c.5229T= (p.Pro1743=) | |
| 6 | g.7584289G>A | CA362692070 | DSP | c.5698G>A (p.Glu1900Lys) c.7027G>A (p.Glu2343Lys) c.5230G>A (p.Glu1744Lys) | dbSNP |
| 6 | g.7584289G>C | CA362692071 | DSP | c.5698G>C (p.Glu1900Gln) c.7027G>C (p.Glu2343Gln) c.5230G>C (p.Glu1744Gln) | |
| 6 | g.7584289G= | CA1608610799 | DSP | c.5698G= (p.Glu1900=) c.7027G= (p.Glu2343=) c.5230G= (p.Glu1744=) | |
| 6 | g.7584289G>T | CA362692072 | DSP | c.5698G>T (p.Glu1900Ter) c.7027G>T (p.Glu2343Ter) c.5230G>T (p.Glu1744Ter) | |
| 6 | g.7584290A>C | CA362692073 | DSP | c.5699A>C (p.Glu1900Ala) c.7028A>C (p.Glu2343Ala) c.5231A>C (p.Glu1744Ala) | |
| 6 | g.7584290A>G | CA362692074 | DSP | c.5699A>G (p.Glu1900Gly) c.7028A>G (p.Glu2343Gly) c.5231A>G (p.Glu1744Gly) | |
| 6 | g.7584290A>T | CA362692075 | DSP | c.5699A>T (p.Glu1900Val) c.7028A>T (p.Glu2343Val) c.5231A>T (p.Glu1744Val) | |
| 6 | g.7584291A>C | CA362692076 | DSP | c.5700A>C (p.Glu1900Asp) c.7029A>C (p.Glu2343Asp) c.5232A>C (p.Glu1744Asp) | |
| 6 | g.7584291A>G | CA448716097 | DSP | c.5700A>G (p.Glu1900=) c.7029A>G (p.Glu2343=) c.5232A>G (p.Glu1744=) | |
| 6 | g.7584291A>T | CA362692077 | DSP | c.5700A>T (p.Glu1900Asp) c.7029A>T (p.Glu2343Asp) c.5232A>T (p.Glu1744Asp) | |
| 6 | g.7584292A>C | CA362692078 | DSP | c.5701A>C (p.Thr1901Pro) c.7030A>C (p.Thr2344Pro) c.5233A>C (p.Thr1745Pro) | |
| 6 | g.7584292A>G | CA362692079 | DSP | c.5701A>G (p.Thr1901Ala) c.7030A>G (p.Thr2344Ala) c.5233A>G (p.Thr1745Ala) | |
| 6 | g.7584292A>T | CA362692080 | DSP | c.5701A>T (p.Thr1901Ser) c.7030A>T (p.Thr2344Ser) c.5233A>T (p.Thr1745Ser) | |
| 6 | g.7584293C>A | CA362692081 | DSP | c.5702C>A (p.Thr1901Lys) c.7031C>A (p.Thr2344Lys) c.5234C>A (p.Thr1745Lys) | |
| 6 | g.7584293C= | CA1608610805 | DSP | c.5702C= (p.Thr1901=) c.7031C= (p.Thr2344=) c.5234C= (p.Thr1745=) | |
| 6 | g.7584293C>G | CA048939 | DSP | c.5702C>G (p.Thr1901Arg) c.7031C>G (p.Thr2344Arg) c.5234C>G (p.Thr1745Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584293C>T | CA362692082 | DSP | c.5702C>T (p.Thr1901Ile) c.7031C>T (p.Thr2344Ile) c.5234C>T (p.Thr1745Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584294A>C | CA448716102 | DSP | c.5703A>C (p.Thr1901=) c.7032A>C (p.Thr2344=) c.5235A>C (p.Thr1745=) | |
| 6 | g.7584294A>G | CA448716103 | DSP | c.5703A>G (p.Thr1901=) c.7032A>G (p.Thr2344=) c.5235A>G (p.Thr1745=) | |
| 6 | g.7584294A>T | CA448716104 | DSP | c.5703A>T (p.Thr1901=) c.7032A>T (p.Thr2344=) c.5235A>T (p.Thr1745=) | |
| 6 | g.7584295G>A | CA362692083 | DSP | c.5704G>A (p.Gly1902Arg) c.7033G>A (p.Gly2345Arg) c.5236G>A (p.Gly1746Arg) | gnomAD v4 |
| 6 | g.7584295G>C | CA048952 | DSP | c.5704G>C (p.Gly1902Arg) c.7033G>C (p.Gly2345Arg) c.5236G>C (p.Gly1746Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584295G= | CA1608610813 | DSP | c.5704G= (p.Gly1902=) c.7033G= (p.Gly2345=) c.5236G= (p.Gly1746=) | |
| 6 | g.7584295G>T | CA362692084 | DSP | c.5704G>T (p.Gly1902Ter) c.7033G>T (p.Gly2345Ter) c.5236G>T (p.Gly1746Ter) | |
| 6 | g.7584296G>A | CA133975584 | DSP | c.5705G>A (p.Gly1902Glu) c.7034G>A (p.Gly2345Glu) c.5237G>A (p.Gly1746Glu) | dbSNP |
| 6 | g.7584296G>C | CA362692085 | DSP | c.5705G>C (p.Gly1902Ala) c.7034G>C (p.Gly2345Ala) c.5237G>C (p.Gly1746Ala) | gnomAD v4 |
| 6 | g.7584296G= | CA1608610823 | DSP | c.5705G= (p.Gly1902=) c.7034G= (p.Gly2345=) c.5237G= (p.Gly1746=) | |
| 6 | g.7584296G>T | CA362692086 | DSP | c.5705G>T (p.Gly1902Val) c.7034G>T (p.Gly2345Val) c.5237G>T (p.Gly1746Val) | ClinVar |
| 6 | g.7584297A= | CA1608610832 | DSP | c.5706A= (p.Gly1902=) c.7035A= (p.Gly2345=) c.5238A= (p.Gly1746=) | |
| 6 | g.7584297A>C | CA448716112 | DSP | c.5706A>C (p.Gly1902=) c.7035A>C (p.Gly2345=) c.5238A>C (p.Gly1746=) | |
| 6 | g.7584297A>G | CA048974 | DSP | c.5706A>G (p.Gly1902=) c.7035A>G (p.Gly2345=) c.5238A>G (p.Gly1746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584297A>T | CA448716114 | DSP | c.5706A>T (p.Gly1902=) c.7035A>T (p.Gly2345=) c.5238A>T (p.Gly1746=) | |
| 6 | g.7584298A= | CA1608610842 | DSP | c.5707A= (p.Asn1903=) c.7036A= (p.Asn2346=) c.5239A= (p.Asn1747=) | |
| 6 | g.7584298A>C | CA362692089 | DSP | c.5707A>C (p.Asn1903His) c.7036A>C (p.Asn2346His) c.5239A>C (p.Asn1747His) | |
| 6 | g.7584298A>G | CA362692087 | DSP | c.5707A>G (p.Asn1903Asp) c.7036A>G (p.Asn2346Asp) c.5239A>G (p.Asn1747Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584298A>T | CA362692088 | DSP | c.5707A>T (p.Asn1903Tyr) c.7036A>T (p.Asn2346Tyr) c.5239A>T (p.Asn1747Tyr) | |
| 6 | g.7584299A>C | CA362692090 | DSP | c.5708A>C (p.Asn1903Thr) c.7037A>C (p.Asn2346Thr) c.5240A>C (p.Asn1747Thr) | |
| 6 | g.7584299A>G | CA362692091 | DSP | c.5708A>G (p.Asn1903Ser) c.7037A>G (p.Asn2346Ser) c.5240A>G (p.Asn1747Ser) | |
| 6 | g.7584299A>T | CA362692092 | DSP | c.5708A>T (p.Asn1903Ile) c.7037A>T (p.Asn2346Ile) c.5240A>T (p.Asn1747Ile) | |
| 6 | g.7584300C>A | CA362692093 | DSP | c.5709C>A (p.Asn1903Lys) c.7038C>A (p.Asn2346Lys) c.5241C>A (p.Asn1747Lys) | |
| 6 | g.7584300C= | CA1608610849 | DSP | c.5709C= (p.Asn1903=) c.7038C= (p.Asn2346=) c.5241C= (p.Asn1747=) | |
| 6 | g.7584300C>G | CA362692094 | DSP | c.5709C>G (p.Asn1903Lys) c.7038C>G (p.Asn2346Lys) c.5241C>G (p.Asn1747Lys) | |
| 6 | g.7584300C>T | CA048992 | DSP | c.5709C>T (p.Asn1903=) c.7038C>T (p.Asn2346=) c.5241C>T (p.Asn1747=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584304_7584306del | CA2578524526 | DSP | c.5713_5715del (p.Ile1905del) c.7042_7044del (p.Ile2348del) c.5245_5247del (p.Ile1749del) | |
| 6 | g.7584301A= | CA1608610854 | DSP | c.5710A= (p.Ile1904=) c.7039A= (p.Ile2347=) c.5242A= (p.Ile1748=) | |
| 6 | g.7584301A>C | CA049007 | DSP | c.5710A>C (p.Ile1904Leu) c.7039A>C (p.Ile2347Leu) c.5242A>C (p.Ile1748Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584301A>G | CA049017 | DSP | c.5710A>G (p.Ile1904Val) c.7039A>G (p.Ile2347Val) c.5242A>G (p.Ile1748Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584301A>T | CA362692095 | DSP | c.5710A>T (p.Ile1904Phe) c.7039A>T (p.Ile2347Phe) c.5242A>T (p.Ile1748Phe) | |
| 6 | g.7584302T>A | CA362692096 | DSP | c.5711T>A (p.Ile1904Asn) c.7040T>A (p.Ile2347Asn) c.5243T>A (p.Ile1748Asn) | |
| 6 | g.7584302T>C | CA362692097 | DSP | c.5711T>C (p.Ile1904Thr) c.7040T>C (p.Ile2347Thr) c.5243T>C (p.Ile1748Thr) | dbSNP |
| 6 | g.7584302T>G | CA362692098 | DSP | c.5711T>G (p.Ile1904Ser) c.7040T>G (p.Ile2347Ser) c.5243T>G (p.Ile1748Ser) | |
| 6 | g.7584302T= | CA1608610862 | DSP | c.5711T= (p.Ile1904=) c.7040T= (p.Ile2347=) c.5243T= (p.Ile1748=) | |
| 6 | g.7584303C>A | CA448716138 | DSP | c.5712C>A (p.Ile1904=) c.7041C>A (p.Ile2347=) c.5244C>A (p.Ile1748=) | |
| 6 | g.7584303C= | CA1608610867 | DSP | c.5712C= (p.Ile1904=) c.7041C= (p.Ile2347=) c.5244C= (p.Ile1748=) | |
| 6 | g.7584303C>G | CA049027 | DSP | c.5712C>G (p.Ile1904Met) c.7041C>G (p.Ile2347Met) c.5244C>G (p.Ile1748Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584303C>T | CA448716139 | DSP | c.5712C>T (p.Ile1904=) c.7041C>T (p.Ile2347=) c.5244C>T (p.Ile1748=) | ClinVar dbSNP COSMIC |
| 6 | g.7584304A= | CA1608610872 | DSP | c.5713A= (p.Ile1905=) c.7042A= (p.Ile2348=) c.5245A= (p.Ile1749=) | |
| 6 | g.7584304A>C | CA362692099 | DSP | c.5713A>C (p.Ile1905Leu) c.7042A>C (p.Ile2348Leu) c.5245A>C (p.Ile1749Leu) | |
| 6 | g.7584304A>G | CA362692100 | DSP | c.5713A>G (p.Ile1905Val) c.7042A>G (p.Ile2348Val) c.5245A>G (p.Ile1749Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584304A>T | CA362692101 | DSP | c.5713A>T (p.Ile1905Phe) c.7042A>T (p.Ile2348Phe) c.5245A>T (p.Ile1749Phe) | |
| 6 | g.7584305T>A | CA362692102 | DSP | c.5714T>A (p.Ile1905Asn) c.7043T>A (p.Ile2348Asn) c.5246T>A (p.Ile1749Asn) | |
| 6 | g.7584305T>C | CA362692103 | DSP | c.5714T>C (p.Ile1905Thr) c.7043T>C (p.Ile2348Thr) c.5246T>C (p.Ile1749Thr) | |
| 6 | g.7584305T>G | CA362692104 | DSP | c.5714T>G (p.Ile1905Ser) c.7043T>G (p.Ile2348Ser) c.5246T>G (p.Ile1749Ser) | |
| 6 | g.7584306C>A | CA448716144 | DSP | c.5715C>A (p.Ile1905=) c.7044C>A (p.Ile2348=) c.5247C>A (p.Ile1749=) | |
| 6 | g.7584306C>G | CA362692105 | DSP | c.5715C>G (p.Ile1905Met) c.7044C>G (p.Ile2348Met) c.5247C>G (p.Ile1749Met) | |
| 6 | g.7584306C>T | CA448716147 | DSP | c.5715C>T (p.Ile1905=) c.7044C>T (p.Ile2348=) c.5247C>T (p.Ile1749=) | ClinVar dbSNP |
| 6 | g.7584307T>A | CA362692106 | DSP | c.5716T>A (p.Ser1906Thr) c.7045T>A (p.Ser2349Thr) c.5248T>A (p.Ser1750Thr) | |
| 6 | g.7584307T>C | CA362692107 | DSP | c.5716T>C (p.Ser1906Pro) c.7045T>C (p.Ser2349Pro) c.5248T>C (p.Ser1750Pro) | ClinVar |
| 6 | g.7584307T>G | CA362692108 | DSP | c.5716T>G (p.Ser1906Ala) c.7045T>G (p.Ser2349Ala) c.5248T>G (p.Ser1750Ala) |