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.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=) | ClinVar 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) | ClinVar |
| 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=) | |
| 6 | g.7583035C>A | CA362689384 | DSP | c.4444C>A (p.Gln1482Lys) c.5773C>A (p.Gln1925Lys) c.3976C>A (p.Gln1326Lys) | gnomAD v4 |
| 6 | g.7583035C>G | CA362689382 | DSP | c.4444C>G (p.Gln1482Glu) c.5773C>G (p.Gln1925Glu) c.3976C>G (p.Gln1326Glu) | |
| 6 | g.7583035C>T | CA362689383 | DSP | c.4444C>T (p.Gln1482Ter) c.5773C>T (p.Gln1925Ter) c.3976C>T (p.Gln1326Ter) | ClinVar dbSNP |
| 6 | g.7583036A>C | CA362689385 | DSP | c.4445A>C (p.Gln1482Pro) c.5774A>C (p.Gln1925Pro) c.3977A>C (p.Gln1326Pro) | |
| 6 | g.7583036A>G | CA362689386 | DSP | c.4445A>G (p.Gln1482Arg) c.5774A>G (p.Gln1925Arg) c.3977A>G (p.Gln1326Arg) | COSMIC |
| 6 | g.7583036A>T | CA362689387 | DSP | c.4445A>T (p.Gln1482Leu) c.5774A>T (p.Gln1925Leu) c.3977A>T (p.Gln1326Leu) | |
| 6 | g.7583037G>A | CA448715534 | DSP | c.4446G>A (p.Gln1482=) c.5775G>A (p.Gln1925=) c.3978G>A (p.Gln1326=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583037G>C | CA362689388 | DSP | c.4446G>C (p.Gln1482His) c.5775G>C (p.Gln1925His) c.3978G>C (p.Gln1326His) | |
| 6 | g.7583037G= | CA1608606970 | DSP | c.4446G= (p.Gln1482=) c.5775G= (p.Gln1925=) c.3978G= (p.Gln1326=) | |
| 6 | g.7583037G>T | CA362689389 | DSP | c.4446G>T (p.Gln1482His) c.5775G>T (p.Gln1925His) c.3978G>T (p.Gln1326His) | |
| 6 | g.7583038T>A | CA362689390 | DSP | c.4447T>A (p.Ser1483Thr) c.5776T>A (p.Ser1926Thr) c.3979T>A (p.Ser1327Thr) | gnomAD v4 |
| 6 | g.7583038T>C | CA362689392 | DSP | c.4447T>C (p.Ser1483Pro) c.5776T>C (p.Ser1926Pro) c.3979T>C (p.Ser1327Pro) | |
| 6 | g.7583038T>G | CA362689391 | DSP | c.4447T>G (p.Ser1483Ala) c.5776T>G (p.Ser1926Ala) c.3979T>G (p.Ser1327Ala) | |
| 6 | g.7583038_7583040delinsTCA | CA1608606982 | DSP | c.4447_4449delinsTCA (p.Ser1483=) c.5776_5778delinsTCA (p.Ser1926=) c.3979_3981delinsTCA (p.Ser1327=) | |
| 6 | g.7583039C>A | CA362689393 | DSP | c.4448C>A (p.Ser1483Ter) c.5777C>A (p.Ser1926Ter) c.3980C>A (p.Ser1327Ter) | |
| 6 | g.7583039C>G | CA362689394 | DSP | c.4448C>G (p.Ser1483Ter) c.5777C>G (p.Ser1926Ter) c.3980C>G (p.Ser1327Ter) | |
| 6 | g.7583039C>T | CA362689395 | DSP | c.4448C>T (p.Ser1483Leu) c.5777C>T (p.Ser1926Leu) c.3980C>T (p.Ser1327Leu) | |
| 6 | g.7583041_7583042del | CA1085707805 | DSP | c.4450_4451del (p.Gln1484ValfsTer13) c.5779_5780del (p.Gln1927ValfsTer13) c.3982_3983del (p.Gln1328ValfsTer13) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583040A>C | CA448715535 | DSP | c.4449A>C (p.Ser1483=) c.5778A>C (p.Ser1926=) c.3981A>C (p.Ser1327=) | |
| 6 | g.7583040A>G | CA448715536 | DSP | c.4449A>G (p.Ser1483=) c.5778A>G (p.Ser1926=) c.3981A>G (p.Ser1327=) | |
| 6 | g.7583040A>T | CA448715537 | DSP | c.4449A>T (p.Ser1483=) c.5778A>T (p.Ser1926=) c.3981A>T (p.Ser1327=) | |
| 6 | g.7583041C>A | CA362689396 | DSP | c.4450C>A (p.Gln1484Lys) c.5779C>A (p.Gln1927Lys) c.3982C>A (p.Gln1328Lys) | |
| 6 | g.7583041C= | CA1608606997 | DSP | c.4450C= (p.Gln1484=) c.5779C= (p.Gln1927=) c.3982C= (p.Gln1328=) | |
| 6 | g.7583041C>G | CA006604 | DSP | c.4450C>G (p.Gln1484Glu) c.5779C>G (p.Gln1927Glu) c.3982C>G (p.Gln1328Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583041C>T | CA362689397 | DSP | c.4450C>T (p.Gln1484Ter) c.5779C>T (p.Gln1927Ter) c.3982C>T (p.Gln1328Ter) | ClinVar gnomAD v4 |
| 6 | g.7583042A>C | CA362689398 | DSP | c.4451A>C (p.Gln1484Pro) c.5780A>C (p.Gln1927Pro) c.3983A>C (p.Gln1328Pro) | |
| 6 | g.7583042A>G | CA362689399 | DSP | c.4451A>G (p.Gln1484Arg) c.5780A>G (p.Gln1927Arg) c.3983A>G (p.Gln1328Arg) | |
| 6 | g.7583042A>T | CA362689400 | DSP | c.4451A>T (p.Gln1484Leu) c.5780A>T (p.Gln1927Leu) c.3983A>T (p.Gln1328Leu) | |
| 6 | g.7583044_7583047del | CA2580075503 | DSP | c.4453_4456del (p.Leu1485LysfsTer?) c.5782_5785del (p.Leu1928LysfsTer?) c.3985_3988del (p.Leu1329LysfsTer?) | ClinVar |
| 6 | g.7583043G>A | CA448715538 | DSP | c.4452G>A (p.Gln1484=) c.5781G>A (p.Gln1927=) c.3984G>A (p.Gln1328=) | |
| 6 | g.7583043G>C | CA362689401 | DSP | c.4452G>C (p.Gln1484His) c.5781G>C (p.Gln1927His) c.3984G>C (p.Gln1328His) | |
| 6 | g.7583043G>T | CA362689402 | DSP | c.4452G>T (p.Gln1484His) c.5781G>T (p.Gln1927His) c.3984G>T (p.Gln1328His) | |
| 6 | g.7583044T>A | CA362689404 | DSP | c.4453T>A (p.Leu1485Ile) c.5782T>A (p.Leu1928Ile) c.3985T>A (p.Leu1329Ile) | |
| 6 | g.7583044T>C | CA448715539 | DSP | c.4453T>C (p.Leu1485=) c.5782T>C (p.Leu1928=) c.3985T>C (p.Leu1329=) | |
| 6 | g.7583044T>G | CA362689403 | DSP | c.4453T>G (p.Leu1485Val) c.5782T>G (p.Leu1928Val) c.3985T>G (p.Leu1329Val) | gnomAD v4 |
| 6 | g.7583045T>A | CA362689405 | DSP | c.4454T>A (p.Leu1485Ter) c.5783T>A (p.Leu1928Ter) c.3986T>A (p.Leu1329Ter) | |
| 6 | g.7583045T>C | CA362689406 | DSP | c.4454T>C (p.Leu1485Ser) c.5783T>C (p.Leu1928Ser) c.3986T>C (p.Leu1329Ser) | |
| 6 | g.7583045T>G | CA362689407 | DSP | c.4454T>G (p.Leu1485Ter) c.5783T>G (p.Leu1928Ter) c.3986T>G (p.Leu1329Ter) | |
| 6 | g.7583045_7583051delinsTAGAAAC | CA1608607004 | DSP | c.4454_4460delinsTAGAAAC (p.Leu1485=) c.5783_5789delinsTAGAAAC (p.Leu1928=) c.3986_3992delinsTAGAAAC (p.Leu1329=) | |
| 6 | g.7583046A>C | CA362689408 | DSP | c.4455A>C (p.Leu1485Phe) c.5784A>C (p.Leu1928Phe) c.3987A>C (p.Leu1329Phe) | |
| 6 | g.7583046A>G | CA448715540 | DSP | c.4455A>G (p.Leu1485=) c.5784A>G (p.Leu1928=) c.3987A>G (p.Leu1329=) | |
| 6 | g.7583046A>T | CA362689409 | DSP | c.4455A>T (p.Leu1485Phe) c.5784A>T (p.Leu1928Phe) c.3987A>T (p.Leu1329Phe) | |
| 6 | g.7583050_7583055del | CA565358152 | DSP | c.4459_4464del (p.Thr1487_Glu1488del) c.5788_5793del (p.Thr1930_Glu1931del) c.3991_3996del (p.Thr1331_Glu1332del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583047G>A | CA133972315 | DSP | c.4456G>A (p.Glu1486Lys) c.5785G>A (p.Glu1929Lys) c.3988G>A (p.Glu1330Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583047G>C | CA362689410 | DSP | c.4456G>C (p.Glu1486Gln) c.5785G>C (p.Glu1929Gln) c.3988G>C (p.Glu1330Gln) | |
| 6 | g.7583047G= | CA1608607012 | DSP | c.4456G= (p.Glu1486=) c.5785G= (p.Glu1929=) c.3988G= (p.Glu1330=) | |
| 6 | g.7583047G>T | CA362689411 | DSP | c.4456G>T (p.Glu1486Ter) c.5785G>T (p.Glu1929Ter) c.3988G>T (p.Glu1330Ter) | |
| 6 | g.7583048A>C | CA362689412 | DSP | c.4457A>C (p.Glu1486Ala) c.5786A>C (p.Glu1929Ala) c.3989A>C (p.Glu1330Ala) | |
| 6 | g.7583048A>G | CA362689413 | DSP | c.4457A>G (p.Glu1486Gly) c.5786A>G (p.Glu1929Gly) c.3989A>G (p.Glu1330Gly) | |
| 6 | g.7583048A>T | CA362689414 | DSP | c.4457A>T (p.Glu1486Val) c.5786A>T (p.Glu1929Val) c.3989A>T (p.Glu1330Val) | |
| 6 | g.7583049A>C | CA362689415 | DSP | c.4458A>C (p.Glu1486Asp) c.5787A>C (p.Glu1929Asp) c.3990A>C (p.Glu1330Asp) | gnomAD v4 |
| 6 | g.7583049A>G | CA448715541 | DSP | c.4458A>G (p.Glu1486=) c.5787A>G (p.Glu1929=) c.3990A>G (p.Glu1330=) | |
| 6 | g.7583049A>T | CA362689416 | DSP | c.4458A>T (p.Glu1486Asp) c.5787A>T (p.Glu1929Asp) c.3990A>T (p.Glu1330Asp) | |
| 6 | g.7583050A>C | CA362689419 | DSP | c.4459A>C (p.Thr1487Pro) c.5788A>C (p.Thr1930Pro) c.3991A>C (p.Thr1331Pro) | |
| 6 | g.7583050A>G | CA362689418 | DSP | c.4459A>G (p.Thr1487Ala) c.5788A>G (p.Thr1930Ala) c.3991A>G (p.Thr1331Ala) | COSMIC |
| 6 | g.7583050A>T | CA362689417 | DSP | c.4459A>T (p.Thr1487Ser) c.5788A>T (p.Thr1930Ser) c.3991A>T (p.Thr1331Ser) | |
| 6 | g.7583051C>A | CA362689420 | DSP | c.4460C>A (p.Thr1487Lys) c.5789C>A (p.Thr1930Lys) c.3992C>A (p.Thr1331Lys) | |
| 6 | g.7583051C= | CA1608607020 | DSP | c.4460C= (p.Thr1487=) c.5789C= (p.Thr1930=) c.3992C= (p.Thr1331=) | |
| 6 | g.7583051C>G | CA006614 | DSP | c.4460C>G (p.Thr1487Arg) c.5789C>G (p.Thr1930Arg) c.3992C>G (p.Thr1331Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583051C>T | CA362689421 | DSP | c.4460C>T (p.Thr1487Ile) c.5789C>T (p.Thr1930Ile) c.3992C>T (p.Thr1331Ile) | |
| 6 | g.7583052A= | CA1608607026 | DSP | c.4461A= (p.Thr1487=) c.5790A= (p.Thr1930=) c.3993A= (p.Thr1331=) | |
| 6 | g.7583052A>C | CA448715580 | DSP | c.4461A>C (p.Thr1487=) c.5790A>C (p.Thr1930=) c.3993A>C (p.Thr1331=) | |
| 6 | g.7583052A>G | CA448715581 | DSP | c.4461A>G (p.Thr1487=) c.5790A>G (p.Thr1930=) c.3993A>G (p.Thr1331=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583052A>T | CA448715582 | DSP | c.4461A>T (p.Thr1487=) c.5790A>T (p.Thr1930=) c.3993A>T (p.Thr1331=) | |
| 6 | g.7583053G>A | CA362689422 | DSP | c.4462G>A (p.Glu1488Lys) c.5791G>A (p.Glu1931Lys) c.3994G>A (p.Glu1332Lys) | |
| 6 | g.7583053G>C | CA362689423 | DSP | c.4462G>C (p.Glu1488Gln) c.5791G>C (p.Glu1931Gln) c.3994G>C (p.Glu1332Gln) | |
| 6 | g.7583053G>T | CA362689424 | DSP | c.4462G>T (p.Glu1488Ter) c.5791G>T (p.Glu1931Ter) c.3994G>T (p.Glu1332Ter) | |
| 6 | g.7583054A>C | CA362689425 | DSP | c.4463A>C (p.Glu1488Ala) c.5792A>C (p.Glu1931Ala) c.3995A>C (p.Glu1332Ala) | |
| 6 | g.7583054A>G | CA362689426 | DSP | c.4463A>G (p.Glu1488Gly) c.5792A>G (p.Glu1931Gly) c.3995A>G (p.Glu1332Gly) | |
| 6 | g.7583054A>T | CA362689427 | DSP | c.4463A>T (p.Glu1488Val) c.5792A>T (p.Glu1931Val) c.3995A>T (p.Glu1332Val) | |
| 6 | g.7583054_7583055insGAGTTAGATA | CA2677235036 | DSP | c.4463_4464insGAGTTAGATA (p.Arg1489SerfsTer2) c.5792_5793insGAGTTAGATA (p.Arg1932SerfsTer2) c.3995_3996insGAGTTAGATA (p.Arg1333SerfsTer2) | gnomAD v4 |
| 6 | g.7583055A>C | CA362689428 | DSP | c.4464A>C (p.Glu1488Asp) c.5793A>C (p.Glu1931Asp) c.3996A>C (p.Glu1332Asp) | |
| 6 | g.7583055A>G | CA448715585 | DSP | c.4464A>G (p.Glu1488=) c.5793A>G (p.Glu1931=) c.3996A>G (p.Glu1332=) | |
| 6 | g.7583055A>T | CA362689429 | DSP | c.4464A>T (p.Glu1488Asp) c.5793A>T (p.Glu1931Asp) c.3996A>T (p.Glu1332Asp) | |
| 6 | g.7583056C>A | CA362689430 | DSP | c.4465C>A (p.Arg1489Ser) c.5794C>A (p.Arg1932Ser) c.3997C>A (p.Arg1333Ser) | |
| 6 | g.7583056C= | CA1608607040 | DSP | c.4465C= (p.Arg1489=) c.5794C= (p.Arg1932=) c.3997C= (p.Arg1333=) | |
| 6 | g.7583056C>G | CA362689431 | DSP | c.4465C>G (p.Arg1489Gly) c.5794C>G (p.Arg1932Gly) c.3997C>G (p.Arg1333Gly) | |
| 6 | g.7583056C>T | CA045687 | DSP | c.4465C>T (p.Arg1489Cys) c.5794C>T (p.Arg1932Cys) c.3997C>T (p.Arg1333Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583057G>A | CA045698 | DSP | c.4466G>A (p.Arg1489His) c.5795G>A (p.Arg1932His) c.3998G>A (p.Arg1333His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583057G>C | CA362689433 | DSP | c.4466G>C (p.Arg1489Pro) c.5795G>C (p.Arg1932Pro) c.3998G>C (p.Arg1333Pro) | |
| 6 | g.7583057G= | CA1608607046 | DSP | c.4466G= (p.Arg1489=) c.5795G= (p.Arg1932=) c.3998G= (p.Arg1333=) | |
| 6 | g.7583057G>T | CA362689432 | DSP | c.4466G>T (p.Arg1489Leu) c.5795G>T (p.Arg1932Leu) c.3998G>T (p.Arg1333Leu) | |
| 6 | g.7583058C>A | CA448715587 | DSP | c.4467C>A (p.Arg1489=) c.5796C>A (p.Arg1932=) c.3999C>A (p.Arg1333=) | |
| 6 | g.7583058C= | CA1608607054 | DSP | c.4467C= (p.Arg1489=) c.5796C= (p.Arg1932=) c.3999C= (p.Arg1333=) | |
| 6 | g.7583058C>G | CA045714 | DSP | c.4467C>G (p.Arg1489=) c.5796C>G (p.Arg1932=) c.3999C>G (p.Arg1333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583058C>T | CA045726 | DSP | c.4467C>T (p.Arg1489=) c.5796C>T (p.Arg1932=) c.3999C>T (p.Arg1333=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583059T>A | CA362689434 | DSP | c.4468T>A (p.Ser1490Thr) c.5797T>A (p.Ser1933Thr) c.4000T>A (p.Ser1334Thr) | |
| 6 | g.7583059T>C | CA362689435 | DSP | c.4468T>C (p.Ser1490Pro) c.5797T>C (p.Ser1933Pro) c.4000T>C (p.Ser1334Pro) | |
| 6 | g.7583059T>G | CA362689436 | DSP | c.4468T>G (p.Ser1490Ala) c.5797T>G (p.Ser1933Ala) c.4000T>G (p.Ser1334Ala) | |
| 6 | g.7583060C>A | CA362689437 | DSP | c.4469C>A (p.Ser1490Tyr) c.5798C>A (p.Ser1933Tyr) c.4001C>A (p.Ser1334Tyr) | |
| 6 | g.7583060C= | CA1608607062 | DSP | c.4469C= (p.Ser1490=) c.5798C= (p.Ser1933=) c.4001C= (p.Ser1334=) | |
| 6 | g.7583060C>G | CA362689438 | DSP | c.4469C>G (p.Ser1490Cys) c.5798C>G (p.Ser1933Cys) c.4001C>G (p.Ser1334Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583060C>T | CA133972347 | DSP | c.4469C>T (p.Ser1490Phe) c.5798C>T (p.Ser1933Phe) c.4001C>T (p.Ser1334Phe) | ClinVar dbSNP |
| 6 | g.7583061C>A | CA448715589 | DSP | c.4470C>A (p.Ser1490=) c.5799C>A (p.Ser1933=) c.4002C>A (p.Ser1334=) | |
| 6 | g.7583061C>G | CA448715590 | DSP | c.4470C>G (p.Ser1490=) c.5799C>G (p.Ser1933=) c.4002C>G (p.Ser1334=) | |
| 6 | g.7583061C>T | CA448715591 | DSP | c.4470C>T (p.Ser1490=) c.5799C>T (p.Ser1933=) c.4002C>T (p.Ser1334=) | |
| 6 | g.7583062C>A | CA045761 | DSP | c.4471C>A (p.Arg1491=) c.5800C>A (p.Arg1934=) c.4003C>A (p.Arg1335=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583062C= | CA1608607078 | DSP | c.4471C= (p.Arg1491=) c.5800C= (p.Arg1934=) c.4003C= (p.Arg1335=) | |
| 6 | g.7583062C>G | CA362689439 | DSP | c.4471C>G (p.Arg1491Gly) c.5800C>G (p.Arg1934Gly) c.4003C>G (p.Arg1335Gly) | gnomAD v4 |
| 6 | g.7583062C>T | CA006621 | DSP | c.4471C>T (p.Arg1491Ter) c.5800C>T (p.Arg1934Ter) c.4003C>T (p.Arg1335Ter) | ClinVar dbSNP |
| 6 | g.7583063G>A | CA362689440 | DSP | c.4472G>A (p.Arg1491Gln) c.5801G>A (p.Arg1934Gln) c.4004G>A (p.Arg1335Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7583063G>C | CA362689441 | DSP | c.4472G>C (p.Arg1491Pro) c.5801G>C (p.Arg1934Pro) c.4004G>C (p.Arg1335Pro) | |
| 6 | g.7583063G= | CA1608607087 | DSP | c.4472G= (p.Arg1491=) c.5801G= (p.Arg1934=) c.4004G= (p.Arg1335=) | |
| 6 | g.7583063G>T | CA362689442 | DSP | c.4472G>T (p.Arg1491Leu) c.5801G>T (p.Arg1934Leu) c.4004G>T (p.Arg1335Leu) | ClinVar |
| 6 | g.7583064A= | CA1608607094 | DSP | c.4473A= (p.Arg1491=) c.5802A= (p.Arg1934=) c.4005A= (p.Arg1335=) | |
| 6 | g.7583064A>C | CA448715595 | DSP | c.4473A>C (p.Arg1491=) c.5802A>C (p.Arg1934=) c.4005A>C (p.Arg1335=) | |
| 6 | g.7583064A>G | CA448715596 | DSP | c.4473A>G (p.Arg1491=) c.5802A>G (p.Arg1934=) c.4005A>G (p.Arg1335=) | ClinVar dbSNP |
| 6 | g.7583064A>T | CA448715597 | DSP | c.4473A>T (p.Arg1491=) c.5802A>T (p.Arg1934=) c.4005A>T (p.Arg1335=) | ClinVar gnomAD v4 |
| 6 | g.7583065T>A | CA362689445 | DSP | c.4474T>A (p.Tyr1492Asn) c.5803T>A (p.Tyr1935Asn) c.4006T>A (p.Tyr1336Asn) | |
| 6 | g.7583065T>C | CA362689443 | DSP | c.4474T>C (p.Tyr1492His) c.5803T>C (p.Tyr1935His) c.4006T>C (p.Tyr1336His) | |
| 6 | g.7583065T>G | CA362689444 | DSP | c.4474T>G (p.Tyr1492Asp) c.5803T>G (p.Tyr1935Asp) c.4006T>G (p.Tyr1336Asp) | |
| 6 | g.7583066A= | CA1608607101 | DSP | c.4475A= (p.Tyr1492=) c.5804A= (p.Tyr1935=) c.4007A= (p.Tyr1336=) | |
| 6 | g.7583066A>C | CA362689446 | DSP | c.4475A>C (p.Tyr1492Ser) c.5804A>C (p.Tyr1935Ser) c.4007A>C (p.Tyr1336Ser) | |
| 6 | g.7583066A>G | CA045770 | DSP | c.4475A>G (p.Tyr1492Cys) c.5804A>G (p.Tyr1935Cys) c.4007A>G (p.Tyr1336Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583066A>T | CA362689447 | DSP | c.4475A>T (p.Tyr1492Phe) c.5804A>T (p.Tyr1935Phe) c.4007A>T (p.Tyr1336Phe) | |
| 6 | g.7583067T>A | CA362689448 | DSP | c.4476T>A (p.Tyr1492Ter) c.5805T>A (p.Tyr1935Ter) c.4008T>A (p.Tyr1336Ter) | |
| 6 | g.7583067T>C | CA045784 | DSP | c.4476T>C (p.Tyr1492=) c.5805T>C (p.Tyr1935=) c.4008T>C (p.Tyr1336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583067T>G | CA362689449 | DSP | c.4476T>G (p.Tyr1492Ter) c.5805T>G (p.Tyr1935Ter) c.4008T>G (p.Tyr1336Ter) | |
| 6 | g.7583067T= | CA1608607105 | DSP | c.4476T= (p.Tyr1492=) c.5805T= (p.Tyr1935=) c.4008T= (p.Tyr1336=) | |
| 6 | g.7583068C>A | CA362689450 | DSP | c.4477C>A (p.Gln1493Lys) c.5806C>A (p.Gln1936Lys) c.4009C>A (p.Gln1337Lys) | |
| 6 | g.7583068C>G | CA362689451 | DSP | c.4477C>G (p.Gln1493Glu) c.5806C>G (p.Gln1936Glu) c.4009C>G (p.Gln1337Glu) | |
| 6 | g.7583068C>T | CA362689452 | DSP | c.4477C>T (p.Gln1493Ter) c.5806C>T (p.Gln1936Ter) c.4009C>T (p.Gln1337Ter) | ClinVar dbSNP |