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.7582935_7582936dup | CA645552057 | DSP | c.4344_4345dup (p.Lys1449ArgfsTer?) c.5673_5674dup (p.Lys1892ArgfsTer?) c.3876_3877dup (p.Lys1293ArgfsTer?) | ClinVar dbSNP COSMIC |
| 6 | g.7582935_7582936del | CA658657578 | DSP | c.4344_4345del (p.Lys1449GlufsTer4) c.5673_5674del (p.Lys1892GlufsTer4) c.3876_3877del (p.Lys1293GlufsTer4) | ClinVar dbSNP |
| 6 | g.7582933_7582936del | CA565358149 | DSP | c.4342_4345del (p.Glu1448ArgfsTer?) c.5671_5674del (p.Glu1891ArgfsTer?) c.3874_3877del (p.Glu1292ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582933_7582936delinsGAGA | CA1608606601 | DSP | c.4342_4345delinsGAGA (p.Glu1448=) c.5671_5674delinsGAGA (p.Glu1891=) c.3874_3877delinsGAGA (p.Glu1292=) | |
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934A>C | CA362689151 | DSP | c.4343A>C (p.Glu1448Ala) c.5672A>C (p.Glu1891Ala) c.3875A>C (p.Glu1292Ala) | |
| 6 | g.7582934A>G | CA362689152 | DSP | c.4343A>G (p.Glu1448Gly) c.5672A>G (p.Glu1891Gly) c.3875A>G (p.Glu1292Gly) | gnomAD v4 |
| 6 | g.7582934A>T | CA362689153 | DSP | c.4343A>T (p.Glu1448Val) c.5672A>T (p.Glu1891Val) c.3875A>T (p.Glu1292Val) | |
| 6 | g.7582938_7582940del | CA045520 | DSP | c.4347_4349del (p.Lys1449del) c.5676_5678del (p.Lys1892del) c.3879_3881del (p.Lys1293del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7582935G>A | CA448715477 | DSP | c.4344G>A (p.Glu1448=) c.5673G>A (p.Glu1891=) c.3876G>A (p.Glu1292=) | gnomAD v4 |
| 6 | g.7582935G>C | CA362689155 | DSP | c.4344G>C (p.Glu1448Asp) c.5673G>C (p.Glu1891Asp) c.3876G>C (p.Glu1292Asp) | |
| 6 | g.7582935G= | CA1608606615 | DSP | c.4344G= (p.Glu1448=) c.5673G= (p.Glu1891=) c.3876G= (p.Glu1292=) | |
| 6 | g.7582935G>T | CA362689154 | DSP | c.4344G>T (p.Glu1448Asp) c.5673G>T (p.Glu1891Asp) c.3876G>T (p.Glu1292Asp) | dbSNP |
| 6 | g.7582936A>C | CA362689156 | DSP | c.4345A>C (p.Lys1449Gln) c.5674A>C (p.Lys1892Gln) c.3877A>C (p.Lys1293Gln) | |
| 6 | g.7582936A>G | CA362689157 | DSP | c.4345A>G (p.Lys1449Glu) c.5674A>G (p.Lys1892Glu) c.3877A>G (p.Lys1293Glu) | ClinVar |
| 6 | g.7582936A>T | CA362689158 | DSP | c.4345A>T (p.Lys1449Ter) c.5674A>T (p.Lys1892Ter) c.3877A>T (p.Lys1293Ter) | |
| 6 | g.7582937A= | CA1608606619 | DSP | c.4346A= (p.Lys1449=) c.5675A= (p.Lys1892=) c.3878A= (p.Lys1293=) | |
| 6 | g.7582937A>C | CA362689159 | DSP | c.4346A>C (p.Lys1449Thr) c.5675A>C (p.Lys1892Thr) c.3878A>C (p.Lys1293Thr) | gnomAD v4 |
| 6 | g.7582937A>G | CA362689160 | DSP | c.4346A>G (p.Lys1449Arg) c.5675A>G (p.Lys1892Arg) c.3878A>G (p.Lys1293Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582937A>T | CA362689161 | DSP | c.4346A>T (p.Lys1449Met) c.5675A>T (p.Lys1892Met) c.3878A>T (p.Lys1293Met) | |
| 6 | g.7582938G>A | CA448715478 | DSP | c.4347G>A (p.Lys1449=) c.5676G>A (p.Lys1892=) c.3879G>A (p.Lys1293=) | gnomAD v4 |
| 6 | g.7582938G>C | CA362689162 | DSP | c.4347G>C (p.Lys1449Asn) c.5676G>C (p.Lys1892Asn) c.3879G>C (p.Lys1293Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582938G= | CA1608606624 | DSP | c.4347G= (p.Lys1449=) c.5676G= (p.Lys1892=) c.3879G= (p.Lys1293=) | |
| 6 | g.7582938G>T | CA362689163 | DSP | c.4347G>T (p.Lys1449Asn) c.5676G>T (p.Lys1892Asn) c.3879G>T (p.Lys1293Asn) | |
| 6 | g.7582939A>C | CA362689164 | DSP | c.4348A>C (p.Asn1450His) c.5677A>C (p.Asn1893His) c.3880A>C (p.Asn1294His) | |
| 6 | g.7582939A>G | CA362689165 | DSP | c.4348A>G (p.Asn1450Asp) c.5677A>G (p.Asn1893Asp) c.3880A>G (p.Asn1294Asp) | |
| 6 | g.7582939A>T | CA362689166 | DSP | c.4348A>T (p.Asn1450Tyr) c.5677A>T (p.Asn1893Tyr) c.3880A>T (p.Asn1294Tyr) | |
| 6 | g.7582940A>C | CA362689168 | DSP | c.4349A>C (p.Asn1450Thr) c.5678A>C (p.Asn1893Thr) c.3881A>C (p.Asn1294Thr) | |
| 6 | g.7582940A>G | CA362689169 | DSP | c.4349A>G (p.Asn1450Ser) c.5678A>G (p.Asn1893Ser) c.3881A>G (p.Asn1294Ser) | ClinVar dbSNP |
| 6 | g.7582940A>T | CA362689167 | DSP | c.4349A>T (p.Asn1450Ile) c.5678A>T (p.Asn1893Ile) c.3881A>T (p.Asn1294Ile) | |
| 6 | g.7582940_7582944delinsACAGT | CA1608606669 | DSP | c.4349_4353delinsACAGT (p.Asn1450=) c.5678_5682delinsACAGT (p.Asn1893=) c.3881_3885delinsACAGT (p.Asn1294=) | |
| 6 | g.7582941C>A | CA362689170 | DSP | c.4350C>A (p.Asn1450Lys) c.5679C>A (p.Asn1893Lys) c.3882C>A (p.Asn1294Lys) | |
| 6 | g.7582941C= | CA1608606684 | DSP | c.4350C= (p.Asn1450=) c.5679C= (p.Asn1893=) c.3882C= (p.Asn1294=) | |
| 6 | g.7582941C>G | CA362689171 | DSP | c.4350C>G (p.Asn1450Lys) c.5679C>G (p.Asn1893Lys) c.3882C>G (p.Asn1294Lys) | dbSNP gnomAD v4 |
| 6 | g.7582941C>T | CA448715479 | DSP | c.4350C>T (p.Asn1450=) c.5679C>T (p.Asn1893=) c.3882C>T (p.Asn1294=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582942_7582945del | CA045527 | DSP | c.4351_4354del (p.Ser1451LeufsTer?) c.5680_5683del (p.Ser1894LeufsTer?) c.3883_3886del (p.Ser1295LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582942A>C | CA362689172 | DSP | c.4351A>C (p.Ser1451Arg) c.5680A>C (p.Ser1894Arg) c.3883A>C (p.Ser1295Arg) | ClinVar gnomAD v4 |
| 6 | g.7582942A>G | CA362689173 | DSP | c.4351A>G (p.Ser1451Gly) c.5680A>G (p.Ser1894Gly) c.3883A>G (p.Ser1295Gly) | |
| 6 | g.7582942A>T | CA362689174 | DSP | c.4351A>T (p.Ser1451Cys) c.5680A>T (p.Ser1894Cys) c.3883A>T (p.Ser1295Cys) | |
| 6 | g.7582943G>A | CA362689177 | DSP | c.4352G>A (p.Ser1451Asn) c.5681G>A (p.Ser1894Asn) c.3884G>A (p.Ser1295Asn) | gnomAD v4 |
| 6 | g.7582943G>C | CA362689175 | DSP | c.4352G>C (p.Ser1451Thr) c.5681G>C (p.Ser1894Thr) c.3884G>C (p.Ser1295Thr) | ClinVar |
| 6 | g.7582943G>T | CA362689176 | DSP | c.4352G>T (p.Ser1451Ile) c.5681G>T (p.Ser1894Ile) c.3884G>T (p.Ser1295Ile) | |
| 6 | g.7582944T>A | CA362689178 | DSP | c.4353T>A (p.Ser1451Arg) c.5682T>A (p.Ser1894Arg) c.3885T>A (p.Ser1295Arg) | |
| 6 | g.7582944T>C | CA448715480 | DSP | c.4353T>C (p.Ser1451=) c.5682T>C (p.Ser1894=) c.3885T>C (p.Ser1295=) | |
| 6 | g.7582944T>G | CA362689179 | DSP | c.4353T>G (p.Ser1451Arg) c.5682T>G (p.Ser1894Arg) c.3885T>G (p.Ser1295Arg) | |
| 6 | g.7582945C>A | CA362689180 | DSP | c.4354C>A (p.Leu1452Ile) c.5683C>A (p.Leu1895Ile) c.3886C>A (p.Leu1296Ile) | |
| 6 | g.7582945C= | CA1608606695 | DSP | c.4354C= (p.Leu1452=) c.5683C= (p.Leu1895=) c.3886C= (p.Leu1296=) | |
| 6 | g.7582945C>G | CA362689181 | DSP | c.4354C>G (p.Leu1452Val) c.5683C>G (p.Leu1895Val) c.3886C>G (p.Leu1296Val) | ClinVar dbSNP |
| 6 | g.7582945C>T | CA362689182 | DSP | c.4354C>T (p.Leu1452Phe) c.5683C>T (p.Leu1895Phe) c.3886C>T (p.Leu1296Phe) | |
| 6 | g.7582946T>A | CA362689183 | DSP | c.4355T>A (p.Leu1452His) c.5684T>A (p.Leu1895His) c.3887T>A (p.Leu1296His) | |
| 6 | g.7582946T>C | CA362689185 | DSP | c.4355T>C (p.Leu1452Pro) c.5684T>C (p.Leu1895Pro) c.3887T>C (p.Leu1296Pro) | |
| 6 | g.7582946T>G | CA362689184 | DSP | c.4355T>G (p.Leu1452Arg) c.5684T>G (p.Leu1895Arg) c.3887T>G (p.Leu1296Arg) | |
| 6 | g.7582947T>A | CA448715481 | DSP | c.4356T>A (p.Leu1452=) c.5685T>A (p.Leu1895=) c.3888T>A (p.Leu1296=) | |
| 6 | g.7582947T>C | CA045547 | DSP | c.4356T>C (p.Leu1452=) c.5685T>C (p.Leu1895=) c.3888T>C (p.Leu1296=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582947T>G | CA448715482 | DSP | c.4356T>G (p.Leu1452=) c.5685T>G (p.Leu1895=) c.3888T>G (p.Leu1296=) | |
| 6 | g.7582947T= | CA1608606705 | DSP | c.4356T= (p.Leu1452=) c.5685T= (p.Leu1895=) c.3888T= (p.Leu1296=) | |
| 6 | g.7582947_7582950delinsTAGG | CA1608606707 | DSP | c.4356_4359delinsTAGG (p.Leu1452=) c.5685_5688delinsTAGG (p.Leu1895=) c.3888_3891delinsTAGG (p.Leu1296=) | |
| 6 | g.7582947_7582948insCTCACCCTGCCATAACAAGATGCCACAG | CA2677234964 | DSP | c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAG (p.Arg1453LeufsTer5) c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAG (p.Arg1896LeufsTer5) c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAG (p.Arg1297LeufsTer5) | gnomAD v4 |
| 6 | g.7582947_7582948insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA | CA565358150 | DSP | c.4356_4357insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA (p.Arg1453LeufsTer5) c.5685_5686insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA (p.Arg1896LeufsTer5) c.3888_3889insCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGA (p.Arg1297LeufsTer5) | gnomAD v2 |
| 6 | g.7582948A>C | CA448715483 | DSP | c.4357A>C (p.Arg1453=) c.5686A>C (p.Arg1896=) c.3889A>C (p.Arg1297=) | |
| 6 | g.7582948A>G | CA362689186 | DSP | c.4357A>G (p.Arg1453Gly) c.5686A>G (p.Arg1896Gly) c.3889A>G (p.Arg1297Gly) | |
| 6 | g.7582948A>T | CA362689187 | DSP | c.4357A>T (p.Arg1453Trp) c.5686A>T (p.Arg1896Trp) c.3889A>T (p.Arg1297Trp) | |
| 6 | g.7582950_7582952del | CA565358151 | DSP | c.4359_4361del (p.Arg1453del) c.5688_5690del (p.Arg1896del) c.3891_3893del (p.Arg1297del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582949G>A | CA362689188 | DSP | c.4358G>A (p.Arg1453Lys) c.5687G>A (p.Arg1896Lys) c.3890G>A (p.Arg1297Lys) | |
| 6 | g.7582949G>C | CA045561 | DSP | c.4358G>C (p.Arg1453Thr) c.5687G>C (p.Arg1896Thr) c.3890G>C (p.Arg1297Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582949G= | CA1608606719 | DSP | c.4358G= (p.Arg1453=) c.5687G= (p.Arg1896=) c.3890G= (p.Arg1297=) | |
| 6 | g.7582949G>T | CA362689189 | DSP | c.4358G>T (p.Arg1453Met) c.5687G>T (p.Arg1896Met) c.3890G>T (p.Arg1297Met) | gnomAD v4 |
| 6 | g.7582950G>A | CA448715484 | DSP | c.4359G>A (p.Arg1453=) c.5688G>A (p.Arg1896=) c.3891G>A (p.Arg1297=) | |
| 6 | g.7582950G>C | CA362689190 | DSP | c.4359G>C (p.Arg1453Ser) c.5688G>C (p.Arg1896Ser) c.3891G>C (p.Arg1297Ser) | gnomAD v4 |
| 6 | g.7582950G>T | CA362689191 | DSP | c.4359G>T (p.Arg1453Ser) c.5688G>T (p.Arg1896Ser) c.3891G>T (p.Arg1297Ser) | |
| 6 | g.7582951A= | CA1608606725 | DSP | c.4360A= (p.Ser1454=) c.5689A= (p.Ser1897=) c.3892A= (p.Ser1298=) | |
| 6 | g.7582951A>C | CA362689192 | DSP | c.4360A>C (p.Ser1454Arg) c.5689A>C (p.Ser1897Arg) c.3892A>C (p.Ser1298Arg) | |
| 6 | g.7582951A>G | CA362689193 | DSP | c.4360A>G (p.Ser1454Gly) c.5689A>G (p.Ser1897Gly) c.3892A>G (p.Ser1298Gly) | dbSNP gnomAD v4 |
| 6 | g.7582951A>T | CA362689194 | DSP | c.4360A>T (p.Ser1454Cys) c.5689A>T (p.Ser1897Cys) c.3892A>T (p.Ser1298Cys) | |
| 6 | g.7582952G>A | CA362689197 | DSP | c.4361G>A (p.Ser1454Asn) c.5690G>A (p.Ser1897Asn) c.3893G>A (p.Ser1298Asn) | |
| 6 | g.7582952G>C | CA362689196 | DSP | c.4361G>C (p.Ser1454Thr) c.5690G>C (p.Ser1897Thr) c.3893G>C (p.Ser1298Thr) | |
| 6 | g.7582952G= | CA1608606729 | DSP | c.4361G= (p.Ser1454=) c.5690G= (p.Ser1897=) c.3893G= (p.Ser1298=) | |
| 6 | g.7582952G>T | CA362689195 | DSP | c.4361G>T (p.Ser1454Ile) c.5690G>T (p.Ser1897Ile) c.3893G>T (p.Ser1298Ile) | dbSNP gnomAD v2 |
| 6 | g.7582953T>A | CA362689198 | DSP | c.4362T>A (p.Ser1454Arg) c.5691T>A (p.Ser1897Arg) c.3894T>A (p.Ser1298Arg) | |
| 6 | g.7582953T>C | CA448715485 | DSP | c.4362T>C (p.Ser1454=) c.5691T>C (p.Ser1897=) c.3894T>C (p.Ser1298=) | |
| 6 | g.7582953T>G | CA362689199 | DSP | c.4362T>G (p.Ser1454Arg) c.5691T>G (p.Ser1897Arg) c.3894T>G (p.Ser1298Arg) | |
| 6 | g.7582954G>A | CA362689200 | DSP | c.4363G>A (p.Glu1455Lys) c.5692G>A (p.Glu1898Lys) c.3895G>A (p.Glu1299Lys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582954G>C | CA362689201 | DSP | c.4363G>C (p.Glu1455Gln) c.5692G>C (p.Glu1898Gln) c.3895G>C (p.Glu1299Gln) | gnomAD v4 |
| 6 | g.7582954G= | CA1608606734 | DSP | c.4363G= (p.Glu1455=) c.5692G= (p.Glu1898=) c.3895G= (p.Glu1299=) | |
| 6 | g.7582954G>T | CA362689202 | DSP | c.4363G>T (p.Glu1455Ter) c.5692G>T (p.Glu1898Ter) c.3895G>T (p.Glu1299Ter) | COSMIC |
| 6 | g.7582955A= | CA1608606737 | DSP | c.4364A= (p.Glu1455=) c.5693A= (p.Glu1898=) c.3896A= (p.Glu1299=) | |
| 6 | g.7582955A>C | CA362689203 | DSP | c.4364A>C (p.Glu1455Ala) c.5693A>C (p.Glu1898Ala) c.3896A>C (p.Glu1299Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582955A>G | CA362689204 | DSP | c.4364A>G (p.Glu1455Gly) c.5693A>G (p.Glu1898Gly) c.3896A>G (p.Glu1299Gly) | |
| 6 | g.7582955A>T | CA362689205 | DSP | c.4364A>T (p.Glu1455Val) c.5693A>T (p.Glu1898Val) c.3896A>T (p.Glu1299Val) | |
| 6 | g.7582956G>A | CA448715486 | DSP | c.4365G>A (p.Glu1455=) c.5694G>A (p.Glu1898=) c.3897G>A (p.Glu1299=) | gnomAD v4 |
| 6 | g.7582956G>C | CA362689206 | DSP | c.4365G>C (p.Glu1455Asp) c.5694G>C (p.Glu1898Asp) c.3897G>C (p.Glu1299Asp) | |
| 6 | g.7582956G>T | CA362689207 | DSP | c.4365G>T (p.Glu1455Asp) c.5694G>T (p.Glu1898Asp) c.3897G>T (p.Glu1299Asp) | |
| 6 | g.7582957A= | CA1608606745 | DSP | c.4366A= (p.Ile1456=) c.5695A= (p.Ile1899=) c.3898A= (p.Ile1300=) | |
| 6 | g.7582957A>C | CA362689208 | DSP | c.4366A>C (p.Ile1456Leu) c.5695A>C (p.Ile1899Leu) c.3898A>C (p.Ile1300Leu) | gnomAD v4 |
| 6 | g.7582957A>G | CA362689209 | DSP | c.4366A>G (p.Ile1456Val) c.5695A>G (p.Ile1899Val) c.3898A>G (p.Ile1300Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582957A>T | CA362689210 | DSP | c.4366A>T (p.Ile1456Phe) c.5695A>T (p.Ile1899Phe) c.3898A>T (p.Ile1300Phe) | |
| 6 | g.7582958T>A | CA362689213 | DSP | c.4367T>A (p.Ile1456Asn) c.5696T>A (p.Ile1899Asn) c.3899T>A (p.Ile1300Asn) | |
| 6 | g.7582958T>C | CA362689212 | DSP | c.4367T>C (p.Ile1456Thr) c.5696T>C (p.Ile1899Thr) c.3899T>C (p.Ile1300Thr) | gnomAD v4 |
| 6 | g.7582958T>G | CA362689211 | DSP | c.4367T>G (p.Ile1456Ser) c.5696T>G (p.Ile1899Ser) c.3899T>G (p.Ile1300Ser) | |
| 6 | g.7582959C>A | CA448715487 | DSP | c.4368C>A (p.Ile1456=) c.5697C>A (p.Ile1899=) c.3900C>A (p.Ile1300=) | COSMIC |
| 6 | g.7582959C= | CA1608606759 | DSP | c.4368C= (p.Ile1456=) c.5697C= (p.Ile1899=) c.3900C= (p.Ile1300=) | |
| 6 | g.7582959C>G | CA362689214 | DSP | c.4368C>G (p.Ile1456Met) c.5697C>G (p.Ile1899Met) c.3900C>G (p.Ile1300Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582959C>T | CA10584680 | DSP | c.4368C>T (p.Ile1456=) c.5697C>T (p.Ile1899=) c.3900C>T (p.Ile1300=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582960G>A | CA045575 | DSP | c.4369G>A (p.Glu1457Lys) c.5698G>A (p.Glu1900Lys) c.3901G>A (p.Glu1301Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7582960G>C | CA362689215 | DSP | c.4369G>C (p.Glu1457Gln) c.5698G>C (p.Glu1900Gln) c.3901G>C (p.Glu1301Gln) | gnomAD v4 |
| 6 | g.7582960G= | CA1608606768 | DSP | c.4369G= (p.Glu1457=) c.5698G= (p.Glu1900=) c.3901G= (p.Glu1301=) | |
| 6 | g.7582960G>T | CA362689216 | DSP | c.4369G>T (p.Glu1457Ter) c.5698G>T (p.Glu1900Ter) c.3901G>T (p.Glu1301Ter) | |
| 6 | g.7582961A= | CA1608606782 | DSP | c.4370A= (p.Glu1457=) c.5699A= (p.Glu1900=) c.3902A= (p.Glu1301=) | |
| 6 | g.7582961A>C | CA362689217 | DSP | c.4370A>C (p.Glu1457Ala) c.5699A>C (p.Glu1900Ala) c.3902A>C (p.Glu1301Ala) | |
| 6 | g.7582961A>G | CA362689218 | DSP | c.4370A>G (p.Glu1457Gly) c.5699A>G (p.Glu1900Gly) c.3902A>G (p.Glu1301Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7582961A>T | CA362689219 | DSP | c.4370A>T (p.Glu1457Val) c.5699A>T (p.Glu1900Val) c.3902A>T (p.Glu1301Val) | |
| 6 | g.7582962A>C | CA362689220 | DSP | c.4371A>C (p.Glu1457Asp) c.5700A>C (p.Glu1900Asp) c.3903A>C (p.Glu1301Asp) | gnomAD v4 |
| 6 | g.7582962A>G | CA448715488 | DSP | c.4371A>G (p.Glu1457=) c.5700A>G (p.Glu1900=) c.3903A>G (p.Glu1301=) | |
| 6 | g.7582962A>T | CA362689221 | DSP | c.4371A>T (p.Glu1457Asp) c.5700A>T (p.Glu1900Asp) c.3903A>T (p.Glu1301Asp) | |
| 6 | g.7582963A>C | CA448715489 | DSP | c.4372A>C (p.Arg1458=) c.5701A>C (p.Arg1901=) c.3904A>C (p.Arg1302=) | |
| 6 | g.7582963A>G | CA362689222 | DSP | c.4372A>G (p.Arg1458Gly) c.5701A>G (p.Arg1901Gly) c.3904A>G (p.Arg1302Gly) | gnomAD v4 |
| 6 | g.7582963A>T | CA362689223 | DSP | c.4372A>T (p.Arg1458Ter) c.5701A>T (p.Arg1901Ter) c.3904A>T (p.Arg1302Ter) | |
| 6 | g.7582964G>A | CA362689225 | DSP | c.4373G>A (p.Arg1458Lys) c.5702G>A (p.Arg1901Lys) c.3905G>A (p.Arg1302Lys) | |
| 6 | g.7582964G>C | CA362689226 | DSP | c.4373G>C (p.Arg1458Thr) c.5702G>C (p.Arg1901Thr) c.3905G>C (p.Arg1302Thr) | |
| 6 | g.7582964G>T | CA362689224 | DSP | c.4373G>T (p.Arg1458Ile) c.5702G>T (p.Arg1901Ile) c.3905G>T (p.Arg1302Ile) | |
| 6 | g.7582965A>C | CA362689227 | DSP | c.4374A>C (p.Arg1458Ser) c.5703A>C (p.Arg1901Ser) c.3906A>C (p.Arg1302Ser) | |
| 6 | g.7582965A>G | CA448715490 | DSP | c.4374A>G (p.Arg1458=) c.5703A>G (p.Arg1901=) c.3906A>G (p.Arg1302=) | |
| 6 | g.7582965A>T | CA362689228 | DSP | c.4374A>T (p.Arg1458Ser) c.5703A>T (p.Arg1901Ser) c.3906A>T (p.Arg1302Ser) | |
| 6 | g.7582966C>A | CA362689229 | DSP | c.4375C>A (p.Leu1459Ile) c.5704C>A (p.Leu1902Ile) c.3907C>A (p.Leu1303Ile) | |
| 6 | g.7582966C>G | CA362689230 | DSP | c.4375C>G (p.Leu1459Val) c.5704C>G (p.Leu1902Val) c.3907C>G (p.Leu1303Val) | gnomAD v4 |
| 6 | g.7582966C>T | CA362689231 | DSP | c.4375C>T (p.Leu1459Phe) c.5704C>T (p.Leu1902Phe) c.3907C>T (p.Leu1303Phe) | |
| 6 | g.7582967T>A | CA362689232 | DSP | c.4376T>A (p.Leu1459His) c.5705T>A (p.Leu1902His) c.3908T>A (p.Leu1303His) | |
| 6 | g.7582967T>C | CA362689233 | DSP | c.4376T>C (p.Leu1459Pro) c.5705T>C (p.Leu1902Pro) c.3908T>C (p.Leu1303Pro) | |
| 6 | g.7582967T>G | CA362689234 | DSP | c.4376T>G (p.Leu1459Arg) c.5705T>G (p.Leu1902Arg) c.3908T>G (p.Leu1303Arg) | |
| 6 | g.7582968C>A | CA448715491 | DSP | c.4377C>A (p.Leu1459=) c.5706C>A (p.Leu1902=) c.3909C>A (p.Leu1303=) | |
| 6 | g.7582968C= | CA1608606791 | DSP | c.4377C= (p.Leu1459=) c.5706C= (p.Leu1902=) c.3909C= (p.Leu1303=) | |
| 6 | g.7582968C>G | CA10584681 | DSP | c.4377C>G (p.Leu1459=) c.5706C>G (p.Leu1902=) c.3909C>G (p.Leu1303=) | ClinVar dbSNP |
| 6 | g.7582968C>T | CA448715492 | DSP | c.4377C>T (p.Leu1459=) c.5706C>T (p.Leu1902=) c.3909C>T (p.Leu1303=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582969C>A | CA006573 | DSP | c.4378C>A (p.Gln1460Lys) c.5707C>A (p.Gln1903Lys) c.3910C>A (p.Gln1304Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582969C= | CA1608606802 | DSP | c.4378C= (p.Gln1460=) c.5707C= (p.Gln1903=) c.3910C= (p.Gln1304=) | |
| 6 | g.7582969C>G | CA362689235 | DSP | c.4378C>G (p.Gln1460Glu) c.5707C>G (p.Gln1903Glu) c.3910C>G (p.Gln1304Glu) | |
| 6 | g.7582969C>T | CA362689236 | DSP | c.4378C>T (p.Gln1460Ter) c.5707C>T (p.Gln1903Ter) c.3910C>T (p.Gln1304Ter) | |
| 6 | g.7582970A>C | CA362689238 | DSP | c.4379A>C (p.Gln1460Pro) c.5708A>C (p.Gln1903Pro) c.3911A>C (p.Gln1304Pro) | |
| 6 | g.7582970A>G | CA362689239 | DSP | c.4379A>G (p.Gln1460Arg) c.5708A>G (p.Gln1903Arg) c.3911A>G (p.Gln1304Arg) | |
| 6 | g.7582970A>T | CA362689237 | DSP | c.4379A>T (p.Gln1460Leu) c.5708A>T (p.Gln1903Leu) c.3911A>T (p.Gln1304Leu) | |
| 6 | g.7582971A>C | CA362689240 | DSP | c.4380A>C (p.Gln1460His) c.5709A>C (p.Gln1903His) c.3912A>C (p.Gln1304His) | |
| 6 | g.7582971A>G | CA448715493 | DSP | c.4380A>G (p.Gln1460=) c.5709A>G (p.Gln1903=) c.3912A>G (p.Gln1304=) | |
| 6 | g.7582971A>T | CA362689241 | DSP | c.4380A>T (p.Gln1460His) c.5709A>T (p.Gln1903His) c.3912A>T (p.Gln1304His) | |
| 6 | g.7582972G>A | CA362689242 | DSP | c.4381G>A (p.Ala1461Thr) c.5710G>A (p.Ala1904Thr) c.3913G>A (p.Ala1305Thr) | |
| 6 | g.7582972G>C | CA362689243 | DSP | c.4381G>C (p.Ala1461Pro) c.5710G>C (p.Ala1904Pro) c.3913G>C (p.Ala1305Pro) | |
| 6 | g.7582972G>T | CA362689244 | DSP | c.4381G>T (p.Ala1461Ser) c.5710G>T (p.Ala1904Ser) c.3913G>T (p.Ala1305Ser) | |
| 6 | g.7582973C>A | CA362689247 | DSP | c.4382C>A (p.Ala1461Glu) c.5711C>A (p.Ala1904Glu) c.3914C>A (p.Ala1305Glu) | |
| 6 | g.7582973C= | CA1608606816 | DSP | c.4382C= (p.Ala1461=) c.5711C= (p.Ala1904=) c.3914C= (p.Ala1305=) | |
| 6 | g.7582973C>G | CA362689245 | DSP | c.4382C>G (p.Ala1461Gly) c.5711C>G (p.Ala1904Gly) c.3914C>G (p.Ala1305Gly) | |
| 6 | g.7582973C>T | CA362689246 | DSP | c.4382C>T (p.Ala1461Val) c.5711C>T (p.Ala1904Val) c.3914C>T (p.Ala1305Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582974A>C | CA448715494 | DSP | c.4383A>C (p.Ala1461=) c.5712A>C (p.Ala1904=) c.3915A>C (p.Ala1305=) | |
| 6 | g.7582974A>G | CA448715496 | DSP | c.4383A>G (p.Ala1461=) c.5712A>G (p.Ala1904=) c.3915A>G (p.Ala1305=) | |
| 6 | g.7582974A>T | CA448715495 | DSP | c.4383A>T (p.Ala1461=) c.5712A>T (p.Ala1904=) c.3915A>T (p.Ala1305=) | |
| 6 | g.7582975G>A | CA362689248 | DSP | c.4384G>A (p.Glu1462Lys) c.5713G>A (p.Glu1905Lys) c.3916G>A (p.Glu1306Lys) | |
| 6 | g.7582975G>C | CA362689249 | DSP | c.4384G>C (p.Glu1462Gln) c.5713G>C (p.Glu1905Gln) c.3916G>C (p.Glu1306Gln) | |
| 6 | g.7582975G>T | CA362689250 | DSP | c.4384G>T (p.Glu1462Ter) c.5713G>T (p.Glu1905Ter) c.3916G>T (p.Glu1306Ter) | gnomAD v4 |
| 6 | g.7582976A>C | CA362689251 | DSP | c.4385A>C (p.Glu1462Ala) c.5714A>C (p.Glu1905Ala) c.3917A>C (p.Glu1306Ala) | |
| 6 | g.7582976A>G | CA362689252 | DSP | c.4385A>G (p.Glu1462Gly) c.5714A>G (p.Glu1905Gly) c.3917A>G (p.Glu1306Gly) | |
| 6 | g.7582976A>T | CA362689253 | DSP | c.4385A>T (p.Glu1462Val) c.5714A>T (p.Glu1905Val) c.3917A>T (p.Glu1306Val) | |
| 6 | g.7582977G>A | CA448715497 | DSP | c.4386G>A (p.Glu1462=) c.5715G>A (p.Glu1905=) c.3918G>A (p.Glu1306=) | |
| 6 | g.7582977G>C | CA362689254 | DSP | c.4386G>C (p.Glu1462Asp) c.5715G>C (p.Glu1905Asp) c.3918G>C (p.Glu1306Asp) | gnomAD v4 |
| 6 | g.7582977G>T | CA362689255 | DSP | c.4386G>T (p.Glu1462Asp) c.5715G>T (p.Glu1905Asp) c.3918G>T (p.Glu1306Asp) | |
| 6 | g.7582978A>C | CA362689256 | DSP | c.4387A>C (p.Ile1463Leu) c.5716A>C (p.Ile1906Leu) c.3919A>C (p.Ile1307Leu) | |
| 6 | g.7582978A>G | CA362689258 | DSP | c.4387A>G (p.Ile1463Val) c.5716A>G (p.Ile1906Val) c.3919A>G (p.Ile1307Val) | |
| 6 | g.7582978A>T | CA362689257 | DSP | c.4387A>T (p.Ile1463Phe) c.5716A>T (p.Ile1906Phe) c.3919A>T (p.Ile1307Phe) | gnomAD v4 |
| 6 | g.7582979T>A | CA362689259 | DSP | c.4388T>A (p.Ile1463Asn) c.5717T>A (p.Ile1906Asn) c.3920T>A (p.Ile1307Asn) | |
| 6 | g.7582979T>C | CA362689261 | DSP | c.4388T>C (p.Ile1463Thr) c.5717T>C (p.Ile1906Thr) c.3920T>C (p.Ile1307Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582979T>G | CA362689260 | DSP | c.4388T>G (p.Ile1463Ser) c.5717T>G (p.Ile1906Ser) c.3920T>G (p.Ile1307Ser) | |
| 6 | g.7582979T= | CA1608606834 | DSP | c.4388T= (p.Ile1463=) c.5717T= (p.Ile1906=) c.3920T= (p.Ile1307=) | |
| 6 | g.7582980C>A | CA448715498 | DSP | c.4389C>A (p.Ile1463=) c.5718C>A (p.Ile1906=) c.3921C>A (p.Ile1307=) | |
| 6 | g.7582980C>G | CA362689262 | DSP | c.4389C>G (p.Ile1463Met) c.5718C>G (p.Ile1906Met) c.3921C>G (p.Ile1307Met) | ClinVar dbSNP |
| 6 | g.7582980C>T | CA448715499 | DSP | c.4389C>T (p.Ile1463=) c.5718C>T (p.Ile1906=) c.3921C>T (p.Ile1307=) | |
| 6 | g.7582981A>C | CA362689263 | DSP | c.4390A>C (p.Lys1464Gln) c.5719A>C (p.Lys1907Gln) c.3922A>C (p.Lys1308Gln) | |
| 6 | g.7582981A>G | CA362689264 | DSP | c.4390A>G (p.Lys1464Glu) c.5719A>G (p.Lys1907Glu) c.3922A>G (p.Lys1308Glu) | gnomAD v4 |
| 6 | g.7582981A>T | CA362689265 | DSP | c.4390A>T (p.Lys1464Ter) c.5719A>T (p.Lys1907Ter) c.3922A>T (p.Lys1308Ter) | |
| 6 | g.7582982A= | CA1608606837 | DSP | c.4391A= (p.Lys1464=) c.5720A= (p.Lys1907=) c.3923A= (p.Lys1308=) | |
| 6 | g.7582982A>C | CA362689266 | DSP | c.4391A>C (p.Lys1464Thr) c.5720A>C (p.Lys1907Thr) c.3923A>C (p.Lys1308Thr) | |
| 6 | g.7582982A>G | CA362689267 | DSP | c.4391A>G (p.Lys1464Arg) c.5720A>G (p.Lys1907Arg) c.3923A>G (p.Lys1308Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582982A>T | CA362689268 | DSP | c.4391A>T (p.Lys1464Met) c.5720A>T (p.Lys1907Met) c.3923A>T (p.Lys1308Met) | COSMIC |
| 6 | g.7582983G>A | CA448715500 | DSP | c.4392G>A (p.Lys1464=) c.5721G>A (p.Lys1907=) c.3924G>A (p.Lys1308=) | |
| 6 | g.7582983G>C | CA045591 | DSP | c.4392G>C (p.Lys1464Asn) c.5721G>C (p.Lys1907Asn) c.3924G>C (p.Lys1308Asn) | dbSNP ExAC |
| 6 | g.7582983G= | CA1608606840 | DSP | c.4392G= (p.Lys1464=) c.5721G= (p.Lys1907=) c.3924G= (p.Lys1308=) | |
| 6 | g.7582983G>T | CA362689269 | DSP | c.4392G>T (p.Lys1464Asn) c.5721G>T (p.Lys1907Asn) c.3924G>T (p.Lys1308Asn) | |
| 6 | g.7582984A= | CA1608606843 | DSP | c.4393A= (p.Arg1465=) c.5722A= (p.Arg1908=) c.3925A= (p.Arg1309=) | |
| 6 | g.7582984A>C | CA448715501 | DSP | c.4393A>C (p.Arg1465=) c.5722A>C (p.Arg1908=) c.3925A>C (p.Arg1309=) | |
| 6 | g.7582984A>G | CA045599 | DSP | c.4393A>G (p.Arg1465Gly) c.5722A>G (p.Arg1908Gly) c.3925A>G (p.Arg1309Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582984A>T | CA362689270 | DSP | c.4393A>T (p.Arg1465Ter) c.5722A>T (p.Arg1908Ter) c.3925A>T (p.Arg1309Ter) | |
| 6 | g.7582985G>A | CA362689273 | DSP | c.4394G>A (p.Arg1465Lys) c.5723G>A (p.Arg1908Lys) c.3926G>A (p.Arg1309Lys) | |
| 6 | g.7582985G>C | CA362689271 | DSP | c.4394G>C (p.Arg1465Thr) c.5723G>C (p.Arg1908Thr) c.3926G>C (p.Arg1309Thr) | |
| 6 | g.7582985G>T | CA362689272 | DSP | c.4394G>T (p.Arg1465Ile) c.5723G>T (p.Arg1908Ile) c.3926G>T (p.Arg1309Ile) | |
| 6 | g.7582985_7582986delinsGA | CA1608606850 | DSP | c.4394_4395delinsGA (p.Arg1465=) c.5723_5724delinsGA (p.Arg1908=) c.3926_3927delinsGA (p.Arg1309=) | |
| 6 | g.7582986A>C | CA362689274 | DSP | c.4395A>C (p.Arg1465Ser) c.5724A>C (p.Arg1908Ser) c.3927A>C (p.Arg1309Ser) | |
| 6 | g.7582986A>G | CA448715502 | DSP | c.4395A>G (p.Arg1465=) c.5724A>G (p.Arg1908=) c.3927A>G (p.Arg1309=) | |
| 6 | g.7582986A>T | CA362689275 | DSP | c.4395A>T (p.Arg1465Ser) c.5724A>T (p.Arg1908Ser) c.3927A>T (p.Arg1309Ser) | |
| 6 | g.7582987del | CA351719 | DSP | c.4396del (p.Ile1466LeufsTer20) c.5725del (p.Ile1909LeufsTer20) c.3928del (p.Ile1310LeufsTer20) | ClinVar dbSNP |
| 6 | g.7582987A>C | CA362689276 | DSP | c.4396A>C (p.Ile1466Leu) c.5725A>C (p.Ile1909Leu) c.3928A>C (p.Ile1310Leu) | |
| 6 | g.7582987A>G | CA362689277 | DSP | c.4396A>G (p.Ile1466Val) c.5725A>G (p.Ile1909Val) c.3928A>G (p.Ile1310Val) | |
| 6 | g.7582987A>T | CA362689278 | DSP | c.4396A>T (p.Ile1466Phe) c.5725A>T (p.Ile1909Phe) c.3928A>T (p.Ile1310Phe) | |
| 6 | g.7582988T>A | CA362689279 | DSP | c.4397T>A (p.Ile1466Asn) c.5726T>A (p.Ile1909Asn) c.3929T>A (p.Ile1310Asn) | |
| 6 | g.7582988T>C | CA045609 | DSP | c.4397T>C (p.Ile1466Thr) c.5726T>C (p.Ile1909Thr) c.3929T>C (p.Ile1310Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582988T>G | CA362689280 | DSP | c.4397T>G (p.Ile1466Ser) c.5726T>G (p.Ile1909Ser) c.3929T>G (p.Ile1310Ser) | |
| 6 | g.7582988T= | CA1608606856 | DSP | c.4397T= (p.Ile1466=) c.5726T= (p.Ile1909=) c.3929T= (p.Ile1310=) | |
| 6 | g.7582989T>A | CA448715503 | DSP | c.4398T>A (p.Ile1466=) c.5727T>A (p.Ile1909=) c.3930T>A (p.Ile1310=) | |
| 6 | g.7582989T>C | CA448715504 | DSP | c.4398T>C (p.Ile1466=) c.5727T>C (p.Ile1909=) c.3930T>C (p.Ile1310=) | gnomAD v4 |
| 6 | g.7582989T>G | CA362689281 | DSP | c.4398T>G (p.Ile1466Met) c.5727T>G (p.Ile1909Met) c.3930T>G (p.Ile1310Met) | |
| 6 | g.7582990G>A | CA362689283 | DSP | c.4399G>A (p.Glu1467Lys) c.5728G>A (p.Glu1910Lys) c.3931G>A (p.Glu1311Lys) | |
| 6 | g.7582990G>C | CA362689284 | DSP | c.4399G>C (p.Glu1467Gln) c.5728G>C (p.Glu1910Gln) c.3931G>C (p.Glu1311Gln) | |
| 6 | g.7582990G>T | CA362689282 | DSP | c.4399G>T (p.Glu1467Ter) c.5728G>T (p.Glu1910Ter) c.3931G>T (p.Glu1311Ter) | |
| 6 | g.7582991A>C | CA362689285 | DSP | c.4400A>C (p.Glu1467Ala) c.5729A>C (p.Glu1910Ala) c.3932A>C (p.Glu1311Ala) | |
| 6 | g.7582991A>G | CA362689286 | DSP | c.4400A>G (p.Glu1467Gly) c.5729A>G (p.Glu1910Gly) c.3932A>G (p.Glu1311Gly) | |
| 6 | g.7582991A>T | CA362689287 | DSP | c.4400A>T (p.Glu1467Val) c.5729A>T (p.Glu1910Val) c.3932A>T (p.Glu1311Val) | |
| 6 | g.7582992A>C | CA362689288 | DSP | c.4401A>C (p.Glu1467Asp) c.5730A>C (p.Glu1910Asp) c.3933A>C (p.Glu1311Asp) | |
| 6 | g.7582992A>G | CA448715505 | DSP | c.4401A>G (p.Glu1467=) c.5730A>G (p.Glu1910=) c.3933A>G (p.Glu1311=) | |
| 6 | g.7582992A>T | CA362689289 | DSP | c.4401A>T (p.Glu1467Asp) c.5730A>T (p.Glu1910Asp) c.3933A>T (p.Glu1311Asp) | |
| 6 | g.7582996_7582997dup | CA2677234968 | DSP | c.4405_4406dup (p.Cys1470GlyfsTer17) c.5734_5735dup (p.Cys1913GlyfsTer17) c.3937_3938dup (p.Cys1314GlyfsTer17) | gnomAD v4 |
| 6 | g.7582993G>A | CA362689290 | DSP | c.4402G>A (p.Glu1468Lys) c.5731G>A (p.Glu1911Lys) c.3934G>A (p.Glu1312Lys) | |
| 6 | g.7582993G>C | CA362689291 | DSP | c.4402G>C (p.Glu1468Gln) c.5731G>C (p.Glu1911Gln) c.3934G>C (p.Glu1312Gln) | |
| 6 | g.7582993G>T | CA362689292 | DSP | c.4402G>T (p.Glu1468Ter) c.5731G>T (p.Glu1911Ter) c.3934G>T (p.Glu1312Ter) | ClinVar |
| 6 | g.7582994A>C | CA362689293 | DSP | c.4403A>C (p.Glu1468Ala) c.5732A>C (p.Glu1911Ala) c.3935A>C (p.Glu1312Ala) | |
| 6 | g.7582994A>G | CA362689294 | DSP | c.4403A>G (p.Glu1468Gly) c.5732A>G (p.Glu1911Gly) c.3935A>G (p.Glu1312Gly) | |
| 6 | g.7582994A>T | CA362689295 | DSP | c.4403A>T (p.Glu1468Val) c.5732A>T (p.Glu1911Val) c.3935A>T (p.Glu1312Val) | |
| 6 | g.7582995G>A | CA448715506 | DSP | c.4404G>A (p.Glu1468=) c.5733G>A (p.Glu1911=) c.3936G>A (p.Glu1312=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7582995G>C | CA362689296 | DSP | c.4404G>C (p.Glu1468Asp) c.5733G>C (p.Glu1911Asp) c.3936G>C (p.Glu1312Asp) | gnomAD v4 |
| 6 | g.7582995G= | CA1608606859 | DSP | c.4404G= (p.Glu1468=) c.5733G= (p.Glu1911=) c.3936G= (p.Glu1312=) | |
| 6 | g.7582995G>T | CA362689297 | DSP | c.4404G>T (p.Glu1468Asp) c.5733G>T (p.Glu1911Asp) c.3936G>T (p.Glu1312Asp) | |
| 6 | g.7582996A>C | CA448715507 | DSP | c.4405A>C (p.Arg1469=) c.5734A>C (p.Arg1912=) c.3937A>C (p.Arg1313=) | ClinVar |
| 6 | g.7582996A>G | CA362689299 | DSP | c.4405A>G (p.Arg1469Gly) c.5734A>G (p.Arg1912Gly) c.3937A>G (p.Arg1313Gly) | |
| 6 | g.7582996A>T | CA362689298 | DSP | c.4405A>T (p.Arg1469Trp) c.5734A>T (p.Arg1912Trp) c.3937A>T (p.Arg1313Trp) | |
| 6 | g.7582997G>A | CA362689300 | DSP | c.4406G>A (p.Arg1469Lys) c.5735G>A (p.Arg1912Lys) c.3938G>A (p.Arg1313Lys) | |
| 6 | g.7582997G>C | CA362689301 | DSP | c.4406G>C (p.Arg1469Thr) c.5735G>C (p.Arg1912Thr) c.3938G>C (p.Arg1313Thr) | |
| 6 | g.7582997G>T | CA362689302 | DSP | c.4406G>T (p.Arg1469Met) c.5735G>T (p.Arg1912Met) c.3938G>T (p.Arg1313Met) | |
| 6 | g.7582998G>A | CA045635 | DSP | c.4407G>A (p.Arg1469=) c.5736G>A (p.Arg1912=) c.3939G>A (p.Arg1313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7582998G>C | CA362689303 | DSP | c.4407G>C (p.Arg1469Ser) c.5736G>C (p.Arg1912Ser) c.3939G>C (p.Arg1313Ser) | |
| 6 | g.7582998G= | CA1608606870 | DSP | c.4407G= (p.Arg1469=) c.5736G= (p.Arg1912=) c.3939G= (p.Arg1313=) | |
| 6 | g.7582998G>T | CA133972240 | DSP | c.4407G>T (p.Arg1469Ser) c.5736G>T (p.Arg1912Ser) c.3939G>T (p.Arg1313Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7582999T>A | CA362689304 | DSP | c.4408T>A (p.Cys1470Ser) c.5737T>A (p.Cys1913Ser) c.3940T>A (p.Cys1314Ser) | |
| 6 | g.7582999T>C | CA362689305 | DSP | c.4408T>C (p.Cys1470Arg) c.5737T>C (p.Cys1913Arg) c.3940T>C (p.Cys1314Arg) | |
| 6 | g.7582999T>G | CA362689306 | DSP | c.4408T>G (p.Cys1470Gly) c.5737T>G (p.Cys1913Gly) c.3940T>G (p.Cys1314Gly) | |
| 6 | g.7583000G>A | CA362689307 | DSP | c.4409G>A (p.Cys1470Tyr) c.5738G>A (p.Cys1913Tyr) c.3941G>A (p.Cys1314Tyr) | |
| 6 | g.7583000G>C | CA133972251 | DSP | c.4409G>C (p.Cys1470Ser) c.5738G>C (p.Cys1913Ser) c.3941G>C (p.Cys1314Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583000G= | CA1608606888 | DSP | c.4409G= (p.Cys1470=) c.5738G= (p.Cys1913=) c.3941G= (p.Cys1314=) | |
| 6 | g.7583000G>T | CA362689308 | DSP | c.4409G>T (p.Cys1470Phe) c.5738G>T (p.Cys1913Phe) c.3941G>T (p.Cys1314Phe) | |
| 6 | g.7583001C>A | CA362689309 | DSP | c.4410C>A (p.Cys1470Ter) c.5739C>A (p.Cys1913Ter) c.3942C>A (p.Cys1314Ter) | |
| 6 | g.7583001C>G | CA362689310 | DSP | c.4410C>G (p.Cys1470Trp) c.5739C>G (p.Cys1913Trp) c.3942C>G (p.Cys1314Trp) | |
| 6 | g.7583001C>T | CA448715508 | DSP | c.4410C>T (p.Cys1470=) c.5739C>T (p.Cys1913=) c.3942C>T (p.Cys1314=) | |
| 6 | g.7583002A>C | CA448715510 | DSP | c.4411A>C (p.Arg1471=) c.5740A>C (p.Arg1914=) c.3943A>C (p.Arg1315=) | |
| 6 | g.7583002A>G | CA362689311 | DSP | c.4411A>G (p.Arg1471Gly) c.5740A>G (p.Arg1914Gly) c.3943A>G (p.Arg1315Gly) | gnomAD v4 |
| 6 | g.7583002A>T | CA362689312 | DSP | c.4411A>T (p.Arg1471Trp) c.5740A>T (p.Arg1914Trp) c.3943A>T (p.Arg1315Trp) | |
| 6 | g.7583002dup | CA448715509 | DSP | c.4411dup (p.Arg1471LysfsTer3) c.5740dup (p.Arg1914LysfsTer3) c.3943dup (p.Arg1315LysfsTer3) | |
| 6 | g.7583003G>A | CA362689313 | DSP | c.4412G>A (p.Arg1471Lys) c.5741G>A (p.Arg1914Lys) c.3944G>A (p.Arg1315Lys) | |
| 6 | g.7583003G>C | CA362689315 | DSP | c.4412G>C (p.Arg1471Thr) c.5741G>C (p.Arg1914Thr) c.3944G>C (p.Arg1315Thr) | |
| 6 | g.7583003G>T | CA362689314 | DSP | c.4412G>T (p.Arg1471Met) c.5741G>T (p.Arg1914Met) c.3944G>T (p.Arg1315Met) | |
| 6 | g.7583004G>A | CA448715511 | DSP | c.4413G>A (p.Arg1471=) c.5742G>A (p.Arg1914=) c.3945G>A (p.Arg1315=) | |
| 6 | g.7583004G>C | CA362689316 | DSP | c.4413G>C (p.Arg1471Ser) c.5742G>C (p.Arg1914Ser) c.3945G>C (p.Arg1315Ser) | |
| 6 | g.7583004G>T | CA362689317 | DSP | c.4413G>T (p.Arg1471Ser) c.5742G>T (p.Arg1914Ser) c.3945G>T (p.Arg1315Ser) | |
| 6 | g.7583005C>A | CA362689318 | DSP | c.4414C>A (p.Arg1472Ser) c.5743C>A (p.Arg1915Ser) c.3946C>A (p.Arg1316Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583005C= | CA1608606900 | DSP | c.4414C= (p.Arg1472=) c.5743C= (p.Arg1915=) c.3946C= (p.Arg1316=) | |
| 6 | g.7583005C>G | CA362689319 | DSP | c.4414C>G (p.Arg1472Gly) c.5743C>G (p.Arg1915Gly) c.3946C>G (p.Arg1316Gly) | |
| 6 | g.7583005C>T | CA362689320 | DSP | c.4414C>T (p.Arg1472Cys) c.5743C>T (p.Arg1915Cys) c.3946C>T (p.Arg1316Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583006G>A | CA006581 | DSP | c.4415G>A (p.Arg1472His) c.5744G>A (p.Arg1915His) c.3947G>A (p.Arg1316His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583006G>C | CA362689321 | DSP | c.4415G>C (p.Arg1472Pro) c.5744G>C (p.Arg1915Pro) c.3947G>C (p.Arg1316Pro) | |
| 6 | g.7583006G= | CA1608606909 | DSP | c.4415G= (p.Arg1472=) c.5744G= (p.Arg1915=) c.3947G= (p.Arg1316=) | |
| 6 | g.7583006G>T | CA362689322 | DSP | c.4415G>T (p.Arg1472Leu) c.5744G>T (p.Arg1915Leu) c.3947G>T (p.Arg1316Leu) | |
| 6 | g.7583007T>A | CA448715512 | DSP | c.4416T>A (p.Arg1472=) c.5745T>A (p.Arg1915=) c.3948T>A (p.Arg1316=) | |
| 6 | g.7583007T>C | CA448715513 | DSP | c.4416T>C (p.Arg1472=) c.5745T>C (p.Arg1915=) c.3948T>C (p.Arg1316=) | ClinVar dbSNP |
| 6 | g.7583007T>G | CA448715514 | DSP | c.4416T>G (p.Arg1472=) c.5745T>G (p.Arg1915=) c.3948T>G (p.Arg1316=) | |
| 6 | g.7583007dup | CA16612041 | DSP | c.4416dup (p.Lys1473Ter) c.5745dup (p.Lys1916Ter) c.3948dup (p.Lys1317Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583008A>C | CA362689323 | DSP | c.4417A>C (p.Lys1473Gln) c.5746A>C (p.Lys1916Gln) c.3949A>C (p.Lys1317Gln) | |
| 6 | g.7583008A>G | CA362689324 | DSP | c.4417A>G (p.Lys1473Glu) c.5746A>G (p.Lys1916Glu) c.3949A>G (p.Lys1317Glu) | gnomAD v4 |
| 6 | g.7583008A>T | CA362689325 | DSP | c.4417A>T (p.Lys1473Ter) c.5746A>T (p.Lys1916Ter) c.3949A>T (p.Lys1317Ter) | |
| 6 | g.7583009A>C | CA362689328 | DSP | c.4418A>C (p.Lys1473Thr) c.5747A>C (p.Lys1916Thr) c.3950A>C (p.Lys1317Thr) | |
| 6 | g.7583009A>G | CA362689327 | DSP | c.4418A>G (p.Lys1473Arg) c.5747A>G (p.Lys1916Arg) c.3950A>G (p.Lys1317Arg) | |
| 6 | g.7583009A>T | CA362689326 | DSP | c.4418A>T (p.Lys1473Met) c.5747A>T (p.Lys1916Met) c.3950A>T (p.Lys1317Met) | |
| 6 | g.7583010G>A | CA448715515 | DSP | c.4419G>A (p.Lys1473=) c.5748G>A (p.Lys1916=) c.3951G>A (p.Lys1317=) | ClinVar |
| 6 | g.7583010G>C | CA362689329 | DSP | c.4419G>C (p.Lys1473Asn) c.5748G>C (p.Lys1916Asn) c.3951G>C (p.Lys1317Asn) | |
| 6 | g.7583010G>T | CA362689330 | DSP | c.4419G>T (p.Lys1473Asn) c.5748G>T (p.Lys1916Asn) c.3951G>T (p.Lys1317Asn) | |
| 6 | g.7583011C>A | CA362689331 | DSP | c.4420C>A (p.Leu1474Met) c.5749C>A (p.Leu1917Met) c.3952C>A (p.Leu1318Met) | |
| 6 | g.7583011C= | CA1608606916 | DSP | c.4420C= (p.Leu1474=) c.5749C= (p.Leu1917=) c.3952C= (p.Leu1318=) | |
| 6 | g.7583011C>G | CA133972258 | DSP | c.4420C>G (p.Leu1474Val) c.5749C>G (p.Leu1917Val) c.3952C>G (p.Leu1318Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583011C>T | CA448715516 | DSP | c.4420C>T (p.Leu1474=) c.5749C>T (p.Leu1917=) c.3952C>T (p.Leu1318=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583012T>A | CA362689332 | DSP | c.4421T>A (p.Leu1474Gln) c.5750T>A (p.Leu1917Gln) c.3953T>A (p.Leu1318Gln) | |
| 6 | g.7583012T>C | CA362689333 | DSP | c.4421T>C (p.Leu1474Pro) c.5750T>C (p.Leu1917Pro) c.3953T>C (p.Leu1318Pro) | |
| 6 | g.7583012T>G | CA362689334 | DSP | c.4421T>G (p.Leu1474Arg) c.5750T>G (p.Leu1917Arg) c.3953T>G (p.Leu1318Arg) | |
| 6 | g.7583013G>A | CA448715517 | DSP | c.4422G>A (p.Leu1474=) c.5751G>A (p.Leu1917=) c.3954G>A (p.Leu1318=) | |
| 6 | g.7583013G>C | CA448715518 | DSP | c.4422G>C (p.Leu1474=) c.5751G>C (p.Leu1917=) c.3954G>C (p.Leu1318=) | |
| 6 | g.7583013G>T | CA448715519 | DSP | c.4422G>T (p.Leu1474=) c.5751G>T (p.Leu1917=) c.3954G>T (p.Leu1318=) | |
| 6 | g.7583014G>A | CA362689335 | DSP | c.4423G>A (p.Glu1475Lys) c.5752G>A (p.Glu1918Lys) c.3955G>A (p.Glu1319Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583014G>C | CA362689336 | DSP | c.4423G>C (p.Glu1475Gln) c.5752G>C (p.Glu1918Gln) c.3955G>C (p.Glu1319Gln) | |
| 6 | g.7583014G= | CA1608606918 | DSP | c.4423G= (p.Glu1475=) c.5752G= (p.Glu1918=) c.3955G= (p.Glu1319=) | |
| 6 | g.7583014G>T | CA362689337 | DSP | c.4423G>T (p.Glu1475Ter) c.5752G>T (p.Glu1918Ter) c.3955G>T (p.Glu1319Ter) | |
| 6 | g.7583015A= | CA1608606919 | DSP | c.4424A= (p.Glu1475=) c.5753A= (p.Glu1918=) c.3956A= (p.Glu1319=) | |
| 6 | g.7583015A>C | CA362689338 | DSP | c.4424A>C (p.Glu1475Ala) c.5753A>C (p.Glu1918Ala) c.3956A>C (p.Glu1319Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583015A>G | CA362689339 | DSP | c.4424A>G (p.Glu1475Gly) c.5753A>G (p.Glu1918Gly) c.3956A>G (p.Glu1319Gly) | |
| 6 | g.7583015A>T | CA362689340 | DSP | c.4424A>T (p.Glu1475Val) c.5753A>T (p.Glu1918Val) c.3956A>T (p.Glu1319Val) | |
| 6 | g.7583016G>A | CA448715520 | DSP | c.4425G>A (p.Glu1475=) c.5754G>A (p.Glu1918=) c.3957G>A (p.Glu1319=) | gnomAD v4 |
| 6 | g.7583016G>C | CA362689341 | DSP | c.4425G>C (p.Glu1475Asp) c.5754G>C (p.Glu1918Asp) c.3957G>C (p.Glu1319Asp) | |
| 6 | g.7583016G>T | CA362689342 | DSP | c.4425G>T (p.Glu1475Asp) c.5754G>T (p.Glu1918Asp) c.3957G>T (p.Glu1319Asp) | |
| 6 | g.7583017G>A | CA362689343 | DSP | c.4426G>A (p.Asp1476Asn) c.5755G>A (p.Asp1919Asn) c.3958G>A (p.Asp1320Asn) | |
| 6 | g.7583017G>C | CA362689344 | DSP | c.4426G>C (p.Asp1476His) c.5755G>C (p.Asp1919His) c.3958G>C (p.Asp1320His) | |
| 6 | g.7583017G= | CA1608606921 | DSP | c.4426G= (p.Asp1476=) c.5755G= (p.Asp1919=) c.3958G= (p.Asp1320=) | |
| 6 | g.7583017G>T | CA362689345 | DSP | c.4426G>T (p.Asp1476Tyr) c.5755G>T (p.Asp1919Tyr) c.3958G>T (p.Asp1320Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583018A>C | CA362689346 | DSP | c.4427A>C (p.Asp1476Ala) c.5756A>C (p.Asp1919Ala) c.3959A>C (p.Asp1320Ala) | |
| 6 | g.7583018A>G | CA362689347 | DSP | c.4427A>G (p.Asp1476Gly) c.5756A>G (p.Asp1919Gly) c.3959A>G (p.Asp1320Gly) | |
| 6 | g.7583018A>T | CA362689348 | DSP | c.4427A>T (p.Asp1476Val) c.5756A>T (p.Asp1919Val) c.3959A>T (p.Asp1320Val) | gnomAD v4 |
| 6 | g.7583019T>A | CA362689349 | DSP | c.4428T>A (p.Asp1476Glu) c.5757T>A (p.Asp1919Glu) c.3960T>A (p.Asp1320Glu) | |
| 6 | g.7583019T>C | CA448715521 | DSP | c.4428T>C (p.Asp1476=) c.5757T>C (p.Asp1919=) c.3960T>C (p.Asp1320=) | |
| 6 | g.7583019T>G | CA006588 | DSP | c.4428T>G (p.Asp1476Glu) c.5757T>G (p.Asp1919Glu) c.3960T>G (p.Asp1320Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583019T= | CA1608606925 | DSP | c.4428T= (p.Asp1476=) c.5757T= (p.Asp1919=) c.3960T= (p.Asp1320=) | |
| 6 | g.7583020T>A | CA362689350 | DSP | c.4429T>A (p.Ser1477Thr) c.5758T>A (p.Ser1920Thr) c.3961T>A (p.Ser1321Thr) | |
| 6 | g.7583020T>C | CA362689351 | DSP | c.4429T>C (p.Ser1477Pro) c.5758T>C (p.Ser1920Pro) c.3961T>C (p.Ser1321Pro) | |
| 6 | g.7583020T>G | CA362689352 | DSP | c.4429T>G (p.Ser1477Ala) c.5758T>G (p.Ser1920Ala) c.3961T>G (p.Ser1321Ala) | |
| 6 | g.7583021C>A | CA362689353 | DSP | c.4430C>A (p.Ser1477Tyr) c.5759C>A (p.Ser1920Tyr) c.3962C>A (p.Ser1321Tyr) | |
| 6 | g.7583021C>G | CA362689354 | DSP | c.4430C>G (p.Ser1477Cys) c.5759C>G (p.Ser1920Cys) c.3962C>G (p.Ser1321Cys) | |
| 6 | g.7583021C>T | CA362689355 | DSP | c.4430C>T (p.Ser1477Phe) c.5759C>T (p.Ser1920Phe) c.3962C>T (p.Ser1321Phe) | |
| 6 | g.7583022T>A | CA448715522 | DSP | c.4431T>A (p.Ser1477=) c.5760T>A (p.Ser1920=) c.3963T>A (p.Ser1321=) | |
| 6 | g.7583022T>C | CA448715523 | DSP | c.4431T>C (p.Ser1477=) c.5760T>C (p.Ser1920=) c.3963T>C (p.Ser1321=) | |
| 6 | g.7583022T>G | CA448715524 | DSP | c.4431T>G (p.Ser1477=) c.5760T>G (p.Ser1920=) c.3963T>G (p.Ser1321=) | |
| 6 | g.7583023A>C | CA362689356 | DSP | c.4432A>C (p.Thr1478Pro) c.5761A>C (p.Thr1921Pro) c.3964A>C (p.Thr1322Pro) | |
| 6 | g.7583023A>G | CA362689358 | DSP | c.4432A>G (p.Thr1478Ala) c.5761A>G (p.Thr1921Ala) c.3964A>G (p.Thr1322Ala) | |
| 6 | g.7583023A>T | CA362689357 | DSP | c.4432A>T (p.Thr1478Ser) c.5761A>T (p.Thr1921Ser) c.3964A>T (p.Thr1322Ser) | |
| 6 | g.7583025_7583033del | CA2677234990 | DSP | c.4434_4442del (p.Arg1479_Thr1481del) c.5763_5771del (p.Arg1922_Thr1924del) c.3966_3974del (p.Arg1323_Thr1325del) | gnomAD v4 |
| 6 | g.7583024C>A | CA362689359 | DSP | c.4433C>A (p.Thr1478Asn) c.5762C>A (p.Thr1921Asn) c.3965C>A (p.Thr1322Asn) | |
| 6 | g.7583024C>G | CA362689360 | DSP | c.4433C>G (p.Thr1478Ser) c.5762C>G (p.Thr1921Ser) c.3965C>G (p.Thr1322Ser) | |
| 6 | g.7583024C>T | CA362689361 | DSP | c.4433C>T (p.Thr1478Ile) c.5762C>T (p.Thr1921Ile) c.3965C>T (p.Thr1322Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583025C>A | CA448715527 | DSP | c.4434C>A (p.Thr1478=) c.5763C>A (p.Thr1921=) c.3966C>A (p.Thr1322=) | |
| 6 | g.7583025C= | CA1608606931 | DSP | c.4434C= (p.Thr1478=) c.5763C= (p.Thr1921=) c.3966C= (p.Thr1322=) | |
| 6 | g.7583025C>G | CA448715525 | DSP | c.4434C>G (p.Thr1478=) c.5763C>G (p.Thr1921=) c.3966C>G (p.Thr1322=) | |
| 6 | g.7583025C>T | CA448715526 | DSP | c.4434C>T (p.Thr1478=) c.5763C>T (p.Thr1921=) c.3966C>T (p.Thr1322=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583025_7583026delinsCA | CA1608606929 | DSP | c.4434_4435delinsCA (p.Thr1478=) c.5763_5764delinsCA (p.Thr1921=) c.3966_3967delinsCA (p.Thr1322=) | |
| 6 | g.7583026del | CA045664 | DSP | c.4435del (p.Arg1479GlyfsTer7) c.5764del (p.Arg1922GlyfsTer7) c.3967del (p.Arg1323GlyfsTer7) | dbSNP ExAC gnomAD v2 |
| 6 | g.7583026A>C | CA448715528 | DSP | c.4435A>C (p.Arg1479=) c.5764A>C (p.Arg1922=) c.3967A>C (p.Arg1323=) | |
| 6 | g.7583026A>G | CA362689362 | DSP | c.4435A>G (p.Arg1479Gly) c.5764A>G (p.Arg1922Gly) c.3967A>G (p.Arg1323Gly) | ClinVar |
| 6 | g.7583026A>T | CA362689363 | DSP | c.4435A>T (p.Arg1479Trp) c.5764A>T (p.Arg1922Trp) c.3967A>T (p.Arg1323Trp) | |
| 6 | g.7583027G>A | CA362689364 | DSP | c.4436G>A (p.Arg1479Lys) c.5765G>A (p.Arg1922Lys) c.3968G>A (p.Arg1323Lys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583027G>C | CA362689365 | DSP | c.4436G>C (p.Arg1479Thr) c.5765G>C (p.Arg1922Thr) c.3968G>C (p.Arg1323Thr) | |
| 6 | g.7583027G= | CA1608606938 | DSP | c.4436G= (p.Arg1479=) c.5765G= (p.Arg1922=) c.3968G= (p.Arg1323=) | |
| 6 | g.7583027G>T | CA362689366 | DSP | c.4436G>T (p.Arg1479Met) c.5765G>T (p.Arg1922Met) c.3968G>T (p.Arg1323Met) | |
| 6 | g.7583028G>A | CA448715529 | DSP | c.4437G>A (p.Arg1479=) c.5766G>A (p.Arg1922=) c.3969G>A (p.Arg1323=) | |
| 6 | g.7583028G>C | CA362689367 | DSP | c.4437G>C (p.Arg1479Ser) c.5766G>C (p.Arg1922Ser) c.3969G>C (p.Arg1323Ser) | dbSNP |
| 6 | g.7583028G>T | CA362689368 | DSP | c.4437G>T (p.Arg1479Ser) c.5766G>T (p.Arg1922Ser) c.3969G>T (p.Arg1323Ser) | |
| 6 | g.7583029G>A | CA006596 | DSP | c.4438G>A (p.Glu1480Lys) c.5767G>A (p.Glu1923Lys) c.3970G>A (p.Glu1324Lys) | ClinVar dbSNP |
| 6 | g.7583029G>C | CA362689370 | DSP | c.4438G>C (p.Glu1480Gln) c.5767G>C (p.Glu1923Gln) c.3970G>C (p.Glu1324Gln) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583029G= | CA1608606948 | DSP | c.4438G= (p.Glu1480=) c.5767G= (p.Glu1923=) c.3970G= (p.Glu1324=) | |
| 6 | g.7583029G>T | CA362689369 | DSP | c.4438G>T (p.Glu1480Ter) c.5767G>T (p.Glu1923Ter) c.3970G>T (p.Glu1324Ter) | |
| 6 | g.7583030A>C | CA362689372 | DSP | c.4439A>C (p.Glu1480Ala) c.5768A>C (p.Glu1923Ala) c.3971A>C (p.Glu1324Ala) | |
| 6 | g.7583030A>G | CA362689371 | DSP | c.4439A>G (p.Glu1480Gly) c.5768A>G (p.Glu1923Gly) c.3971A>G (p.Glu1324Gly) | |
| 6 | g.7583030A>T | CA362689373 | DSP | c.4439A>T (p.Glu1480Val) c.5768A>T (p.Glu1923Val) c.3971A>T (p.Glu1324Val) | |
| 6 | g.7583031G>A | CA448715530 | DSP | c.4440G>A (p.Glu1480=) c.5769G>A (p.Glu1923=) c.3972G>A (p.Glu1324=) | |
| 6 | g.7583031G>C | CA362689374 | DSP | c.4440G>C (p.Glu1480Asp) c.5769G>C (p.Glu1923Asp) c.3972G>C (p.Glu1324Asp) | |
| 6 | g.7583031G>T | CA362689375 | DSP | c.4440G>T (p.Glu1480Asp) c.5769G>T (p.Glu1923Asp) c.3972G>T (p.Glu1324Asp) | |
| 6 | g.7583031_7583033delinsGAC | CA1608606954 | DSP | c.4440_4442delinsGAC (p.Glu1480=) c.5769_5771delinsGAC (p.Glu1923=) c.3972_3974delinsGAC (p.Glu1324=) | |
| 6 | g.7583032A>C | CA362689376 | DSP | c.4441A>C (p.Thr1481Pro) c.5770A>C (p.Thr1924Pro) c.3973A>C (p.Thr1325Pro) | |
| 6 | g.7583032A>G | CA362689377 | DSP | c.4441A>G (p.Thr1481Ala) c.5770A>G (p.Thr1924Ala) c.3973A>G (p.Thr1325Ala) | |
| 6 | g.7583032A>T | CA362689378 | DSP | c.4441A>T (p.Thr1481Ser) c.5770A>T (p.Thr1924Ser) c.3973A>T (p.Thr1325Ser) | |
| 6 | g.7583035_7583036del | CA891843113 | DSP | c.4444_4445del (p.Gln1482ValfsTer15) c.5773_5774del (p.Gln1925ValfsTer15) c.3976_3977del (p.Gln1326ValfsTer15) | ClinVar dbSNP |
| 6 | g.7583033C>A | CA362689379 | DSP | c.4442C>A (p.Thr1481Lys) c.5771C>A (p.Thr1924Lys) c.3974C>A (p.Thr1325Lys) | |
| 6 | g.7583033C= | CA1608606966 | DSP | c.4442C= (p.Thr1481=) c.5771C= (p.Thr1924=) c.3974C= (p.Thr1325=) | |
| 6 | g.7583033C>G | CA362689380 | DSP | c.4442C>G (p.Thr1481Arg) c.5771C>G (p.Thr1924Arg) c.3974C>G (p.Thr1325Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583033C>T | CA362689381 | DSP | c.4442C>T (p.Thr1481Ile) c.5771C>T (p.Thr1924Ile) c.3974C>T (p.Thr1325Ile) | dbSNP |
| 6 | g.7583034A>C | CA448715531 | DSP | c.4443A>C (p.Thr1481=) c.5772A>C (p.Thr1924=) c.3975A>C (p.Thr1325=) | |
| 6 | g.7583034A>G | CA448715532 | DSP | c.4443A>G (p.Thr1481=) c.5772A>G (p.Thr1924=) c.3975A>G (p.Thr1325=) | |
| 6 | g.7583034A>T | CA448715533 | DSP | c.4443A>T (p.Thr1481=) c.5772A>T (p.Thr1924=) c.3975A>T (p.Thr1325=) |