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.7583380_7583383del | CA2695205954 | DSP | c.4789_4792del (p.Ile1597AlafsTer18) c.6118_6121del (p.Ile2040AlafsTer18) c.4321_4324del (p.Ile1441AlafsTer18) | |
| 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) | |
| 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) | |
| 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=) | |
| 6 | g.7583437A>C | CA362690237 | DSP | c.4846A>C (p.Ile1616Leu) c.6175A>C (p.Ile2059Leu) c.4378A>C (p.Ile1460Leu) | |
| 6 | g.7583437A>G | CA362690238 | DSP | c.4846A>G (p.Ile1616Val) c.6175A>G (p.Ile2059Val) c.4378A>G (p.Ile1460Val) | |
| 6 | g.7583437A>T | CA362690239 | DSP | c.4846A>T (p.Ile1616Phe) c.6175A>T (p.Ile2059Phe) c.4378A>T (p.Ile1460Phe) | |
| 6 | g.7583438T>A | CA362690241 | DSP | c.4847T>A (p.Ile1616Asn) c.6176T>A (p.Ile2059Asn) c.4379T>A (p.Ile1460Asn) | ClinVar dbSNP |
| 6 | g.7583438T>C | CA362690242 | DSP | c.4847T>C (p.Ile1616Thr) c.6176T>C (p.Ile2059Thr) c.4379T>C (p.Ile1460Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583438T>G | CA362690240 | DSP | c.4847T>G (p.Ile1616Ser) c.6176T>G (p.Ile2059Ser) c.4379T>G (p.Ile1460Ser) | |
| 6 | g.7583438T= | CA1608608092 | DSP | c.4847T= (p.Ile1616=) c.6176T= (p.Ile2059=) c.4379T= (p.Ile1460=) | |
| 6 | g.7583439T>A | CA448715955 | DSP | c.4848T>A (p.Ile1616=) c.6177T>A (p.Ile2059=) c.4380T>A (p.Ile1460=) | |
| 6 | g.7583439T>C | CA448715954 | DSP | c.4848T>C (p.Ile1616=) c.6177T>C (p.Ile2059=) c.4380T>C (p.Ile1460=) | |
| 6 | g.7583439T>G | CA362690243 | DSP | c.4848T>G (p.Ile1616Met) c.6177T>G (p.Ile2059Met) c.4380T>G (p.Ile1460Met) | |
| 6 | g.7583440G>A | CA362690244 | DSP | c.4849G>A (p.Asp1617Asn) c.6178G>A (p.Asp2060Asn) c.4381G>A (p.Asp1461Asn) | dbSNP |
| 6 | g.7583440G>C | CA362690245 | DSP | c.4849G>C (p.Asp1617His) c.6178G>C (p.Asp2060His) c.4381G>C (p.Asp1461His) | |
| 6 | g.7583440G= | CA1608608096 | DSP | c.4849G= (p.Asp1617=) c.6178G= (p.Asp2060=) c.4381G= (p.Asp1461=) | |
| 6 | g.7583440G>T | CA362690246 | DSP | c.4849G>T (p.Asp1617Tyr) c.6178G>T (p.Asp2060Tyr) c.4381G>T (p.Asp1461Tyr) | |
| 6 | g.7583441A= | CA1608608114 | DSP | c.4850A= (p.Asp1617=) c.6179A= (p.Asp2060=) c.4382A= (p.Asp1461=) | |
| 6 | g.7583441A>C | CA362690247 | DSP | c.4850A>C (p.Asp1617Ala) c.6179A>C (p.Asp2060Ala) c.4382A>C (p.Asp1461Ala) | |
| 6 | g.7583441A>G | CA006740 | DSP | c.4850A>G (p.Asp1617Gly) c.6179A>G (p.Asp2060Gly) c.4382A>G (p.Asp1461Gly) | ClinVar dbSNP |
| 6 | g.7583441A>T | CA362690248 | DSP | c.4850A>T (p.Asp1617Val) c.6179A>T (p.Asp2060Val) c.4382A>T (p.Asp1461Val) | ClinVar |
| 6 | g.7583442T>A | CA362690249 | DSP | c.4851T>A (p.Asp1617Glu) c.6180T>A (p.Asp2060Glu) c.4383T>A (p.Asp1461Glu) | |
| 6 | g.7583442T>C | CA448715956 | DSP | c.4851T>C (p.Asp1617=) c.6180T>C (p.Asp2060=) c.4383T>C (p.Asp1461=) | |
| 6 | g.7583442T>G | CA362690250 | DSP | c.4851T>G (p.Asp1617Glu) c.6180T>G (p.Asp2060Glu) c.4383T>G (p.Asp1461Glu) | |
| 6 | g.7583443C>A | CA362690251 | DSP | c.4852C>A (p.Pro1618Thr) c.6181C>A (p.Pro2061Thr) c.4384C>A (p.Pro1462Thr) | |
| 6 | g.7583443C= | CA1608608115 | DSP | c.4852C= (p.Pro1618=) c.6181C= (p.Pro2061=) c.4384C= (p.Pro1462=) | |
| 6 | g.7583443C>G | CA362690252 | DSP | c.4852C>G (p.Pro1618Ala) c.6181C>G (p.Pro2061Ala) c.4384C>G (p.Pro1462Ala) | ClinVar dbSNP |
| 6 | g.7583443C>T | CA362690253 | DSP | c.4852C>T (p.Pro1618Ser) c.6181C>T (p.Pro2061Ser) c.4384C>T (p.Pro1462Ser) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583444C>A | CA362690256 | DSP | c.4853C>A (p.Pro1618His) c.6182C>A (p.Pro2061His) c.4385C>A (p.Pro1462His) | COSMIC |
| 6 | g.7583444C= | CA1608608118 | DSP | c.4853C= (p.Pro1618=) c.6182C= (p.Pro2061=) c.4385C= (p.Pro1462=) | |
| 6 | g.7583444C>G | CA362690255 | DSP | c.4853C>G (p.Pro1618Arg) c.6182C>G (p.Pro2061Arg) c.4385C>G (p.Pro1462Arg) | |
| 6 | g.7583444C>T | CA362690254 | DSP | c.4853C>T (p.Pro1618Leu) c.6182C>T (p.Pro2061Leu) c.4385C>T (p.Pro1462Leu) | dbSNP gnomAD v4 |
| 6 | g.7583445C>A | CA448715959 | DSP | c.4854C>A (p.Pro1618=) c.6183C>A (p.Pro2061=) c.4386C>A (p.Pro1462=) | |
| 6 | g.7583445C>G | CA448715957 | DSP | c.4854C>G (p.Pro1618=) c.6183C>G (p.Pro2061=) c.4386C>G (p.Pro1462=) | |
| 6 | g.7583445C>T | CA448715958 | DSP | c.4854C>T (p.Pro1618=) c.6183C>T (p.Pro2061=) c.4386C>T (p.Pro1462=) | |
| 6 | g.7583446C>A | CA362690257 | DSP | c.4855C>A (p.His1619Asn) c.6184C>A (p.His2062Asn) c.4387C>A (p.His1463Asn) | |
| 6 | g.7583446C= | CA1608608121 | DSP | c.4855C= (p.His1619=) c.6184C= (p.His2062=) c.4387C= (p.His1463=) | |
| 6 | g.7583446C>G | CA362690258 | DSP | c.4855C>G (p.His1619Asp) c.6184C>G (p.His2062Asp) c.4387C>G (p.His1463Asp) | |
| 6 | g.7583446C>T | CA362690259 | DSP | c.4855C>T (p.His1619Tyr) c.6184C>T (p.His2062Tyr) c.4387C>T (p.His1463Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583447A= | CA1608608144 | DSP | c.4856A= (p.His1619=) c.6185A= (p.His2062=) c.4388A= (p.His1463=) | |
| 6 | g.7583447A>C | CA362690260 | DSP | c.4856A>C (p.His1619Pro) c.6185A>C (p.His2062Pro) c.4388A>C (p.His1463Pro) | gnomAD v4 |
| 6 | g.7583447A>G | CA006748 | DSP | c.4856A>G (p.His1619Arg) c.6185A>G (p.His2062Arg) c.4388A>G (p.His1463Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583447A>T | CA362690261 | DSP | c.4856A>T (p.His1619Leu) c.6185A>T (p.His2062Leu) c.4388A>T (p.His1463Leu) | |
| 6 | g.7583448T>A | CA362690262 | DSP | c.4857T>A (p.His1619Gln) c.6186T>A (p.His2062Gln) c.4389T>A (p.His1463Gln) | |
| 6 | g.7583448T>C | CA448715960 | DSP | c.4857T>C (p.His1619=) c.6186T>C (p.His2062=) c.4389T>C (p.His1463=) | |
| 6 | g.7583448T>G | CA362690263 | DSP | c.4857T>G (p.His1619Gln) c.6186T>G (p.His2062Gln) c.4389T>G (p.His1463Gln) | |
| 6 | g.7583449C>A | CA448715961 | DSP | c.4858C>A (p.Arg1620=) c.6187C>A (p.Arg2063=) c.4390C>A (p.Arg1464=) | |
| 6 | g.7583449C= | CA1608608157 | DSP | c.4858C= (p.Arg1620=) c.6187C= (p.Arg2063=) c.4390C= (p.Arg1464=) | |
| 6 | g.7583449C>G | CA046989 | DSP | c.4858C>G (p.Arg1620Gly) c.6187C>G (p.Arg2063Gly) c.4390C>G (p.Arg1464Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583449C>T | CA047006 | DSP | c.4858C>T (p.Arg1620Trp) c.6187C>T (p.Arg2063Trp) c.4390C>T (p.Arg1464Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583450G>A | CA006758 | DSP | c.4859G>A (p.Arg1620Gln) c.6188G>A (p.Arg2063Gln) c.4391G>A (p.Arg1464Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583450G>C | CA362690264 | DSP | c.4859G>C (p.Arg1620Pro) c.6188G>C (p.Arg2063Pro) c.4391G>C (p.Arg1464Pro) | |
| 6 | g.7583450G= | CA1608608184 | DSP | c.4859G= (p.Arg1620=) c.6188G= (p.Arg2063=) c.4391G= (p.Arg1464=) | |
| 6 | g.7583450G>T | CA362690265 | DSP | c.4859G>T (p.Arg1620Leu) c.6188G>T (p.Arg2063Leu) c.4391G>T (p.Arg1464Leu) | ClinVar dbSNP |
| 6 | g.7583451G>A | CA448715966 | DSP | c.4860G>A (p.Arg1620=) c.6189G>A (p.Arg2063=) c.4392G>A (p.Arg1464=) | gnomAD v4 COSMIC |
| 6 | g.7583451G>C | CA448715963 | DSP | c.4860G>C (p.Arg1620=) c.6189G>C (p.Arg2063=) c.4392G>C (p.Arg1464=) | |
| 6 | g.7583451G>T | CA448715965 | DSP | c.4860G>T (p.Arg1620=) c.6189G>T (p.Arg2063=) c.4392G>T (p.Arg1464=) | |
| 6 | g.7583452A= | CA1608608189 | DSP | c.4861A= (p.Asn1621=) c.6190A= (p.Asn2064=) c.4393A= (p.Asn1465=) | |
| 6 | g.7583452A>C | CA362690267 | DSP | c.4861A>C (p.Asn1621His) c.6190A>C (p.Asn2064His) c.4393A>C (p.Asn1465His) | dbSNP |
| 6 | g.7583452A>G | CA362690268 | DSP | c.4861A>G (p.Asn1621Asp) c.6190A>G (p.Asn2064Asp) c.4393A>G (p.Asn1465Asp) | |
| 6 | g.7583452A>T | CA362690266 | DSP | c.4861A>T (p.Asn1621Tyr) c.6190A>T (p.Asn2064Tyr) c.4393A>T (p.Asn1465Tyr) | |
| 6 | g.7583453A>C | CA362690269 | DSP | c.4862A>C (p.Asn1621Thr) c.6191A>C (p.Asn2064Thr) c.4394A>C (p.Asn1465Thr) | |
| 6 | g.7583453A>G | CA362690270 | DSP | c.4862A>G (p.Asn1621Ser) c.6191A>G (p.Asn2064Ser) c.4394A>G (p.Asn1465Ser) | |
| 6 | g.7583453A>T | CA362690271 | DSP | c.4862A>T (p.Asn1621Ile) c.6191A>T (p.Asn2064Ile) c.4394A>T (p.Asn1465Ile) | |
| 6 | g.7583454T>A | CA362690272 | DSP | c.4863T>A (p.Asn1621Lys) c.6192T>A (p.Asn2064Lys) c.4395T>A (p.Asn1465Lys) | |
| 6 | g.7583454T>C | CA006766 | DSP | c.4863T>C (p.Asn1621=) c.6192T>C (p.Asn2064=) c.4395T>C (p.Asn1465=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583454T>G | CA362690273 | DSP | c.4863T>G (p.Asn1621Lys) c.6192T>G (p.Asn2064Lys) c.4395T>G (p.Asn1465Lys) | |
| 6 | g.7583454T= | CA1608608194 | DSP | c.4863T= (p.Asn1621=) c.6192T= (p.Asn2064=) c.4395T= (p.Asn1465=) | |
| 6 | g.7583455G>A | CA362690274 | DSP | c.4864G>A (p.Glu1622Lys) c.6193G>A (p.Glu2065Lys) c.4396G>A (p.Glu1466Lys) | |
| 6 | g.7583455G>C | CA362690275 | DSP | c.4864G>C (p.Glu1622Gln) c.6193G>C (p.Glu2065Gln) c.4396G>C (p.Glu1466Gln) | |
| 6 | g.7583455G>T | CA362690276 | DSP | c.4864G>T (p.Glu1622Ter) c.6193G>T (p.Glu2065Ter) c.4396G>T (p.Glu1466Ter) | |
| 6 | g.7583456A>C | CA362690277 | DSP | c.4865A>C (p.Glu1622Ala) c.6194A>C (p.Glu2065Ala) c.4397A>C (p.Glu1466Ala) | |
| 6 | g.7583456A>G | CA362690278 | DSP | c.4865A>G (p.Glu1622Gly) c.6194A>G (p.Glu2065Gly) c.4397A>G (p.Glu1466Gly) | gnomAD v4 |
| 6 | g.7583456A>T | CA362690279 | DSP | c.4865A>T (p.Glu1622Val) c.6194A>T (p.Glu2065Val) c.4397A>T (p.Glu1466Val) | |
| 6 | g.7583457G>A | CA448715968 | DSP | c.4866G>A (p.Glu1622=) c.6195G>A (p.Glu2065=) c.4398G>A (p.Glu1466=) | |
| 6 | g.7583457G>C | CA362690280 | DSP | c.4866G>C (p.Glu1622Asp) c.6195G>C (p.Glu2065Asp) c.4398G>C (p.Glu1466Asp) | |
| 6 | g.7583457G>T | CA362690281 | DSP | c.4866G>T (p.Glu1622Asp) c.6195G>T (p.Glu2065Asp) c.4398G>T (p.Glu1466Asp) | |
| 6 | g.7583458A>C | CA362690284 | DSP | c.4867A>C (p.Lys1623Gln) c.6196A>C (p.Lys2066Gln) c.4399A>C (p.Lys1467Gln) | |
| 6 | g.7583458A>G | CA362690283 | DSP | c.4867A>G (p.Lys1623Glu) c.6196A>G (p.Lys2066Glu) c.4399A>G (p.Lys1467Glu) | |
| 6 | g.7583458A>T | CA362690282 | DSP | c.4867A>T (p.Lys1623Ter) c.6196A>T (p.Lys2066Ter) c.4399A>T (p.Lys1467Ter) | |
| 6 | g.7583459A>C | CA362690285 | DSP | c.4868A>C (p.Lys1623Thr) c.6197A>C (p.Lys2066Thr) c.4400A>C (p.Lys1467Thr) | |
| 6 | g.7583459A>G | CA362690286 | DSP | c.4868A>G (p.Lys1623Arg) c.6197A>G (p.Lys2066Arg) c.4400A>G (p.Lys1467Arg) | gnomAD v4 |
| 6 | g.7583459A>T | CA362690287 | DSP | c.4868A>T (p.Lys1623Met) c.6197A>T (p.Lys2066Met) c.4400A>T (p.Lys1467Met) | |
| 6 | g.7583460G>A | CA448715970 | DSP | c.4869G>A (p.Lys1623=) c.6198G>A (p.Lys2066=) c.4401G>A (p.Lys1467=) | |
| 6 | g.7583460G>C | CA362690288 | DSP | c.4869G>C (p.Lys1623Asn) c.6198G>C (p.Lys2066Asn) c.4401G>C (p.Lys1467Asn) | |
| 6 | g.7583460G>T | CA362690289 | DSP | c.4869G>T (p.Lys1623Asn) c.6198G>T (p.Lys2066Asn) c.4401G>T (p.Lys1467Asn) | |
| 6 | g.7583461C>A | CA362690290 | DSP | c.4870C>A (p.Leu1624Met) c.6199C>A (p.Leu2067Met) c.4402C>A (p.Leu1468Met) | |
| 6 | g.7583461C>G | CA362690291 | DSP | c.4870C>G (p.Leu1624Val) c.6199C>G (p.Leu2067Val) c.4402C>G (p.Leu1468Val) | |
| 6 | g.7583461C>T | CA448715972 | DSP | c.4870C>T (p.Leu1624=) c.6199C>T (p.Leu2067=) c.4402C>T (p.Leu1468=) | |
| 6 | g.7583462T>A | CA362690292 | DSP | c.4871T>A (p.Leu1624Gln) c.6200T>A (p.Leu2067Gln) c.4403T>A (p.Leu1468Gln) | |
| 6 | g.7583462T>C | CA362690293 | DSP | c.4871T>C (p.Leu1624Pro) c.6200T>C (p.Leu2067Pro) c.4403T>C (p.Leu1468Pro) | COSMIC |
| 6 | g.7583462T>G | CA362690294 | DSP | c.4871T>G (p.Leu1624Arg) c.6200T>G (p.Leu2067Arg) c.4403T>G (p.Leu1468Arg) | ClinVar dbSNP |
| 6 | g.7583463G>A | CA448715973 | DSP | c.4872G>A (p.Leu1624=) c.6201G>A (p.Leu2067=) c.4404G>A (p.Leu1468=) | ClinVar |
| 6 | g.7583463G>C | CA448715974 | DSP | c.4872G>C (p.Leu1624=) c.6201G>C (p.Leu2067=) c.4404G>C (p.Leu1468=) | gnomAD v4 |
| 6 | g.7583463G>T | CA448715976 | DSP | c.4872G>T (p.Leu1624=) c.6201G>T (p.Leu2067=) c.4404G>T (p.Leu1468=) | gnomAD v4 |
| 6 | g.7583464A= | CA1608608200 | DSP | c.4873A= (p.Thr1625=) c.6202A= (p.Thr2068=) c.4405A= (p.Thr1469=) | |
| 6 | g.7583464A>C | CA362690295 | DSP | c.4873A>C (p.Thr1625Pro) c.6202A>C (p.Thr2068Pro) c.4405A>C (p.Thr1469Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583464A>G | CA362690296 | DSP | c.4873A>G (p.Thr1625Ala) c.6202A>G (p.Thr2068Ala) c.4405A>G (p.Thr1469Ala) | |
| 6 | g.7583464A>T | CA362690297 | DSP | c.4873A>T (p.Thr1625Ser) c.6202A>T (p.Thr2068Ser) c.4405A>T (p.Thr1469Ser) | |
| 6 | g.7583465C>A | CA362690298 | DSP | c.4874C>A (p.Thr1625Asn) c.6203C>A (p.Thr2068Asn) c.4406C>A (p.Thr1469Asn) | |
| 6 | g.7583465C>G | CA362690300 | DSP | c.4874C>G (p.Thr1625Ser) c.6203C>G (p.Thr2068Ser) c.4406C>G (p.Thr1469Ser) | ClinVar |
| 6 | g.7583465C>T | CA362690299 | DSP | c.4874C>T (p.Thr1625Ile) c.6203C>T (p.Thr2068Ile) c.4406C>T (p.Thr1469Ile) | |
| 6 | g.7583466T>A | CA448715977 | DSP | c.4875T>A (p.Thr1625=) c.6204T>A (p.Thr2068=) c.4407T>A (p.Thr1469=) | |
| 6 | g.7583466T>C | CA448715978 | DSP | c.4875T>C (p.Thr1625=) c.6204T>C (p.Thr2068=) c.4407T>C (p.Thr1469=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583466T>G | CA448715979 | DSP | c.4875T>G (p.Thr1625=) c.6204T>G (p.Thr2068=) c.4407T>G (p.Thr1469=) | |
| 6 | g.7583466T= | CA1608608205 | DSP | c.4875T= (p.Thr1625=) c.6204T= (p.Thr2068=) c.4407T= (p.Thr1469=) | |
| 6 | g.7583466_7583470del | CA2500747619 | DSP | c.4875_4879del (p.Val1626GlnfsTer9) c.6204_6208del (p.Val2069GlnfsTer9) c.4407_4411del (p.Val1470GlnfsTer9) | |
| 6 | g.7583467G>A | CA047056 | DSP | c.4876G>A (p.Val1626Ile) c.6205G>A (p.Val2069Ile) c.4408G>A (p.Val1470Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583467G>C | CA362690302 | DSP | c.4876G>C (p.Val1626Leu) c.6205G>C (p.Val2069Leu) c.4408G>C (p.Val1470Leu) | dbSNP |
| 6 | g.7583467G= | CA1608608211 | DSP | c.4876G= (p.Val1626=) c.6205G= (p.Val2069=) c.4408G= (p.Val1470=) | |
| 6 | g.7583467G>T | CA362690301 | DSP | c.4876G>T (p.Val1626Phe) c.6205G>T (p.Val2069Phe) c.4408G>T (p.Val1470Phe) | gnomAD v4 |
| 6 | g.7583468T>A | CA362690303 | DSP | c.4877T>A (p.Val1626Asp) c.6206T>A (p.Val2069Asp) c.4409T>A (p.Val1470Asp) | |
| 6 | g.7583468T>C | CA362690305 | DSP | c.4877T>C (p.Val1626Ala) c.6206T>C (p.Val2069Ala) c.4409T>C (p.Val1470Ala) | |
| 6 | g.7583468T>G | CA362690304 | DSP | c.4877T>G (p.Val1626Gly) c.6206T>G (p.Val2069Gly) c.4409T>G (p.Val1470Gly) | |
| 6 | g.7583469C>A | CA448715983 | DSP | c.4878C>A (p.Val1626=) c.6207C>A (p.Val2069=) c.4410C>A (p.Val1470=) | |
| 6 | g.7583469C= | CA1608608223 | DSP | c.4878C= (p.Val1626=) c.6207C= (p.Val2069=) c.4410C= (p.Val1470=) | |
| 6 | g.7583469C>G | CA448715984 | DSP | c.4878C>G (p.Val1626=) c.6207C>G (p.Val2069=) c.4410C>G (p.Val1470=) | ClinVar |
| 6 | g.7583469C>T | CA047071 | DSP | c.4878C>T (p.Val1626=) c.6207C>T (p.Val2069=) c.4410C>T (p.Val1470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583470G>A | CA006778 | DSP | c.4879G>A (p.Asp1627Asn) c.6208G>A (p.Asp2070Asn) c.4411G>A (p.Asp1471Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583470G>C | CA133974520 | DSP | c.4879G>C (p.Asp1627His) c.6208G>C (p.Asp2070His) c.4411G>C (p.Asp1471His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583470G= | CA1608608231 | DSP | c.4879G= (p.Asp1627=) c.6208G= (p.Asp2070=) c.4411G= (p.Asp1471=) | |
| 6 | g.7583470G>T | CA362690306 | DSP | c.4879G>T (p.Asp1627Tyr) c.6208G>T (p.Asp2070Tyr) c.4411G>T (p.Asp1471Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583471A>C | CA362690307 | DSP | c.4880A>C (p.Asp1627Ala) c.6209A>C (p.Asp2070Ala) c.4412A>C (p.Asp1471Ala) | |
| 6 | g.7583471A>G | CA362690308 | DSP | c.4880A>G (p.Asp1627Gly) c.6209A>G (p.Asp2070Gly) c.4412A>G (p.Asp1471Gly) | gnomAD v4 |
| 6 | g.7583471A>T | CA362690309 | DSP | c.4880A>T (p.Asp1627Val) c.6209A>T (p.Asp2070Val) c.4412A>T (p.Asp1471Val) | |
| 6 | g.7583472C>A | CA362690310 | DSP | c.4881C>A (p.Asp1627Glu) c.6210C>A (p.Asp2070Glu) c.4413C>A (p.Asp1471Glu) | |
| 6 | g.7583472C= | CA1608608238 | DSP | c.4881C= (p.Asp1627=) c.6210C= (p.Asp2070=) c.4413C= (p.Asp1471=) | |
| 6 | g.7583472C>G | CA362690311 | DSP | c.4881C>G (p.Asp1627Glu) c.6210C>G (p.Asp2070Glu) c.4413C>G (p.Asp1471Glu) | |
| 6 | g.7583472C>T | CA448715989 | DSP | c.4881C>T (p.Asp1627=) c.6210C>T (p.Asp2070=) c.4413C>T (p.Asp1471=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583473A>C | CA362690312 | DSP | c.4882A>C (p.Ser1628Arg) c.6211A>C (p.Ser2071Arg) c.4414A>C (p.Ser1472Arg) | |
| 6 | g.7583473A>G | CA362690313 | DSP | c.4882A>G (p.Ser1628Gly) c.6211A>G (p.Ser2071Gly) c.4414A>G (p.Ser1472Gly) | gnomAD v4 |
| 6 | g.7583473A>T | CA362690314 | DSP | c.4882A>T (p.Ser1628Cys) c.6211A>T (p.Ser2071Cys) c.4414A>T (p.Ser1472Cys) | |
| 6 | g.7583473_7583474del | CA2540868898 | DSP | c.4882_4883del (p.Ser1628CysfsTer8) c.6211_6212del (p.Ser2071CysfsTer8) c.4414_4415del (p.Ser1472CysfsTer8) | |
| 6 | g.7583474G>A | CA362690317 | DSP | c.4883G>A (p.Ser1628Asn) c.6212G>A (p.Ser2071Asn) c.4415G>A (p.Ser1472Asn) | |
| 6 | g.7583474G>C | CA362690316 | DSP | c.4883G>C (p.Ser1628Thr) c.6212G>C (p.Ser2071Thr) c.4415G>C (p.Ser1472Thr) | gnomAD v4 |
| 6 | g.7583474G>T | CA362690315 | DSP | c.4883G>T (p.Ser1628Ile) c.6212G>T (p.Ser2071Ile) c.4415G>T (p.Ser1472Ile) | |
| 6 | g.7583475T>A | CA362690318 | DSP | c.4884T>A (p.Ser1628Arg) c.6213T>A (p.Ser2071Arg) c.4416T>A (p.Ser1472Arg) | |
| 6 | g.7583475T>C | CA448715990 | DSP | c.4884T>C (p.Ser1628=) c.6213T>C (p.Ser2071=) c.4416T>C (p.Ser1472=) | |
| 6 | g.7583475T>G | CA362690319 | DSP | c.4884T>G (p.Ser1628Arg) c.6213T>G (p.Ser2071Arg) c.4416T>G (p.Ser1472Arg) | |
| 6 | g.7583476G>A | CA362690320 | DSP | c.4885G>A (p.Ala1629Thr) c.6214G>A (p.Ala2072Thr) c.4417G>A (p.Ala1473Thr) | ClinVar dbSNP |
| 6 | g.7583476G>C | CA362690321 | DSP | c.4885G>C (p.Ala1629Pro) c.6214G>C (p.Ala2072Pro) c.4417G>C (p.Ala1473Pro) | |
| 6 | g.7583476G= | CA1608608244 | DSP | c.4885G= (p.Ala1629=) c.6214G= (p.Ala2072=) c.4417G= (p.Ala1473=) | |
| 6 | g.7583476G>T | CA362690322 | DSP | c.4885G>T (p.Ala1629Ser) c.6214G>T (p.Ala2072Ser) c.4417G>T (p.Ala1473Ser) | |
| 6 | g.7583476_7583477del | CA2565375005 | DSP | c.4885_4886del (p.Ala1629HisfsTer7) c.6214_6215del (p.Ala2072HisfsTer7) c.4417_4418del (p.Ala1473HisfsTer7) | |
| 6 | g.7583477C>A | CA362690323 | DSP | c.4886C>A (p.Ala1629Asp) c.6215C>A (p.Ala2072Asp) c.4418C>A (p.Ala1473Asp) | |
| 6 | g.7583477C>G | CA362690324 | DSP | c.4886C>G (p.Ala1629Gly) c.6215C>G (p.Ala2072Gly) c.4418C>G (p.Ala1473Gly) | |
| 6 | g.7583477C>T | CA362690325 | DSP | c.4886C>T (p.Ala1629Val) c.6215C>T (p.Ala2072Val) c.4418C>T (p.Ala1473Val) | |
| 6 | g.7583478C>A | CA448715994 | DSP | c.4887C>A (p.Ala1629=) c.6216C>A (p.Ala2072=) c.4419C>A (p.Ala1473=) | |
| 6 | g.7583478C>G | CA448715995 | DSP | c.4887C>G (p.Ala1629=) c.6216C>G (p.Ala2072=) c.4419C>G (p.Ala1473=) | |
| 6 | g.7583478C>T | CA448715996 | DSP | c.4887C>T (p.Ala1629=) c.6216C>T (p.Ala2072=) c.4419C>T (p.Ala1473=) | |
| 6 | g.7583479A>C | CA362690326 | DSP | c.4888A>C (p.Ile1630Leu) c.6217A>C (p.Ile2073Leu) c.4420A>C (p.Ile1474Leu) | |
| 6 | g.7583479A>G | CA362690327 | DSP | c.4888A>G (p.Ile1630Val) c.6217A>G (p.Ile2073Val) c.4420A>G (p.Ile1474Val) | |
| 6 | g.7583479A>T | CA362690328 | DSP | c.4888A>T (p.Ile1630Leu) c.6217A>T (p.Ile2073Leu) c.4420A>T (p.Ile1474Leu) | |
| 6 | g.7583480T>A | CA133974523 | DSP | c.4889T>A (p.Ile1630Lys) c.6218T>A (p.Ile2073Lys) c.4421T>A (p.Ile1474Lys) | dbSNP |
| 6 | g.7583480T>C | CA362690330 | DSP | c.4889T>C (p.Ile1630Thr) c.6218T>C (p.Ile2073Thr) c.4421T>C (p.Ile1474Thr) | |
| 6 | g.7583480T>G | CA362690329 | DSP | c.4889T>G (p.Ile1630Arg) c.6218T>G (p.Ile2073Arg) c.4421T>G (p.Ile1474Arg) | |
| 6 | g.7583480T= | CA1608608246 | DSP | c.4889T= (p.Ile1630=) c.6218T= (p.Ile2073=) c.4421T= (p.Ile1474=) | |
| 6 | g.7583481A>C | CA448715999 | DSP | c.4890A>C (p.Ile1630=) c.6219A>C (p.Ile2073=) c.4422A>C (p.Ile1474=) | gnomAD v4 |
| 6 | g.7583481A>G | CA362690331 | DSP | c.4890A>G (p.Ile1630Met) c.6219A>G (p.Ile2073Met) c.4422A>G (p.Ile1474Met) | |
| 6 | g.7583481A>T | CA448716001 | DSP | c.4890A>T (p.Ile1630=) c.6219A>T (p.Ile2073=) c.4422A>T (p.Ile1474=) |