| 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.7584857A>C | CA362693356 | DSP | c.6266A>C (p.Asp2089Ala) c.7595A>C (p.Asp2532Ala) c.5798A>C (p.Asp1933Ala) | |
| 6 | g.7584857A>G | CA362693357 | DSP | c.6266A>G (p.Asp2089Gly) c.7595A>G (p.Asp2532Gly) c.5798A>G (p.Asp1933Gly) | |
| 6 | g.7584857A>T | CA362693358 | DSP | c.6266A>T (p.Asp2089Val) c.7595A>T (p.Asp2532Val) c.5798A>T (p.Asp1933Val) | |
| 6 | g.7584858T>A | CA362693359 | DSP | c.6267T>A (p.Asp2089Glu) c.7596T>A (p.Asp2532Glu) c.5799T>A (p.Asp1933Glu) | |
| 6 | g.7584858T>C | CA050228 | DSP | c.6267T>C (p.Asp2089=) c.7596T>C (p.Asp2532=) c.5799T>C (p.Asp1933=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584858T>G | CA362693360 | DSP | c.6267T>G (p.Asp2089Glu) c.7596T>G (p.Asp2532Glu) c.5799T>G (p.Asp1933Glu) | |
| 6 | g.7584858T= | CA1608612395 | DSP | c.6267T= (p.Asp2089=) c.7596T= (p.Asp2532=) c.5799T= (p.Asp1933=) | |
| 6 | g.7584859G>A | CA362693361 | DSP | c.6268G>A (p.Ala2090Thr) c.7597G>A (p.Ala2533Thr) c.5800G>A (p.Ala1934Thr) | |
| 6 | g.7584859G>C | CA362693362 | DSP | c.6268G>C (p.Ala2090Pro) c.7597G>C (p.Ala2533Pro) c.5800G>C (p.Ala1934Pro) | |
| 6 | g.7584859G>T | CA362693363 | DSP | c.6268G>T (p.Ala2090Ser) c.7597G>T (p.Ala2533Ser) c.5800G>T (p.Ala1934Ser) | |
| 6 | g.7584860C>A | CA362693364 | DSP | c.6269C>A (p.Ala2090Asp) c.7598C>A (p.Ala2533Asp) c.5801C>A (p.Ala1934Asp) | gnomAD v4 |
| 6 | g.7584860C= | CA1608612403 | DSP | c.6269C= (p.Ala2090=) c.7598C= (p.Ala2533=) c.5801C= (p.Ala1934=) | |
| 6 | g.7584860C>G | CA362693365 | DSP | c.6269C>G (p.Ala2090Gly) c.7598C>G (p.Ala2533Gly) c.5801C>G (p.Ala1934Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584860C>T | CA362693366 | DSP | c.6269C>T (p.Ala2090Val) c.7598C>T (p.Ala2533Val) c.5801C>T (p.Ala1934Val) | gnomAD v4 |
| 6 | g.7584861T>A | CA448716815 | DSP | c.6270T>A (p.Ala2090=) c.7599T>A (p.Ala2533=) c.5802T>A (p.Ala1934=) | |
| 6 | g.7584861T>C | CA050247 | DSP | c.6270T>C (p.Ala2090=) c.7599T>C (p.Ala2533=) c.5802T>C (p.Ala1934=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584861T>G | CA448716821 | DSP | c.6270T>G (p.Ala2090=) c.7599T>G (p.Ala2533=) c.5802T>G (p.Ala1934=) | |
| 6 | g.7584861T= | CA1608612408 | DSP | c.6270T= (p.Ala2090=) c.7599T= (p.Ala2533=) c.5802T= (p.Ala1934=) | |
| 6 | g.7584862A= | CA1608612417 | DSP | c.6271A= (p.Ile2091=) c.7600A= (p.Ile2534=) c.5803A= (p.Ile1935=) | |
| 6 | g.7584862A>C | CA362693367 | DSP | c.6271A>C (p.Ile2091Leu) c.7600A>C (p.Ile2534Leu) c.5803A>C (p.Ile1935Leu) | |
| 6 | g.7584862A>G | CA362693369 | DSP | c.6271A>G (p.Ile2091Val) c.7600A>G (p.Ile2534Val) c.5803A>G (p.Ile1935Val) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7584862A>T | CA362693368 | DSP | c.6271A>T (p.Ile2091Phe) c.7600A>T (p.Ile2534Phe) c.5803A>T (p.Ile1935Phe) | |
| 6 | g.7584863T>A | CA362693370 | DSP | c.6272T>A (p.Ile2091Asn) c.7601T>A (p.Ile2534Asn) c.5804T>A (p.Ile1935Asn) | |
| 6 | g.7584863T>C | CA050263 | DSP | c.6272T>C (p.Ile2091Thr) c.7601T>C (p.Ile2534Thr) c.5804T>C (p.Ile1935Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584863T>G | CA362693371 | DSP | c.6272T>G (p.Ile2091Ser) c.7601T>G (p.Ile2534Ser) c.5804T>G (p.Ile1935Ser) | |
| 6 | g.7584863T= | CA1608612421 | DSP | c.6272T= (p.Ile2091=) c.7601T= (p.Ile2534=) c.5804T= (p.Ile1935=) | |
| 6 | g.7584864T>A | CA448716829 | DSP | c.6273T>A (p.Ile2091=) c.7602T>A (p.Ile2534=) c.5805T>A (p.Ile1935=) | |
| 6 | g.7584864T>C | CA448716830 | DSP | c.6273T>C (p.Ile2091=) c.7602T>C (p.Ile2534=) c.5805T>C (p.Ile1935=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584864T>G | CA362693372 | DSP | c.6273T>G (p.Ile2091Met) c.7602T>G (p.Ile2534Met) c.5805T>G (p.Ile1935Met) | |
| 6 | g.7584864T= | CA1608612425 | DSP | c.6273T= (p.Ile2091=) c.7602T= (p.Ile2534=) c.5805T= (p.Ile1935=) | |
| 6 | g.7584865G>A | CA362693375 | DSP | c.6274G>A (p.Asp2092Asn) c.7603G>A (p.Asp2535Asn) c.5806G>A (p.Asp1936Asn) | |
| 6 | g.7584865G>C | CA362693373 | DSP | c.6274G>C (p.Asp2092His) c.7603G>C (p.Asp2535His) c.5806G>C (p.Asp1936His) | |
| 6 | g.7584865G>T | CA362693374 | DSP | c.6274G>T (p.Asp2092Tyr) c.7603G>T (p.Asp2535Tyr) c.5806G>T (p.Asp1936Tyr) | |
| 6 | g.7584866A= | CA1608612429 | DSP | c.6275A= (p.Asp2092=) c.7604A= (p.Asp2535=) c.5807A= (p.Asp1936=) | |
| 6 | g.7584866A>C | CA362693376 | DSP | c.6275A>C (p.Asp2092Ala) c.7604A>C (p.Asp2535Ala) c.5807A>C (p.Asp1936Ala) | |
| 6 | g.7584866A>G | CA362693377 | DSP | c.6275A>G (p.Asp2092Gly) c.7604A>G (p.Asp2535Gly) c.5807A>G (p.Asp1936Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584866A>T | CA362693378 | DSP | c.6275A>T (p.Asp2092Val) c.7604A>T (p.Asp2535Val) c.5807A>T (p.Asp1936Val) | |
| 6 | g.7584867C>A | CA362693379 | DSP | c.6276C>A (p.Asp2092Glu) c.7605C>A (p.Asp2535Glu) c.5808C>A (p.Asp1936Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584867C= | CA1608612432 | DSP | c.6276C= (p.Asp2092=) c.7605C= (p.Asp2535=) c.5808C= (p.Asp1936=) | |
| 6 | g.7584867C>G | CA362693380 | DSP | c.6276C>G (p.Asp2092Glu) c.7605C>G (p.Asp2535Glu) c.5808C>G (p.Asp1936Glu) | |
| 6 | g.7584867C>T | CA448716839 | DSP | c.6276C>T (p.Asp2092=) c.7605C>T (p.Asp2535=) c.5808C>T (p.Asp1936=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584868A>C | CA362693381 | DSP | c.6277A>C (p.Lys2093Gln) c.7606A>C (p.Lys2536Gln) c.5809A>C (p.Lys1937Gln) | |
| 6 | g.7584868A>G | CA362693382 | DSP | c.6277A>G (p.Lys2093Glu) c.7606A>G (p.Lys2536Glu) c.5809A>G (p.Lys1937Glu) | |
| 6 | g.7584868A>T | CA362693383 | DSP | c.6277A>T (p.Lys2093Ter) c.7606A>T (p.Lys2536Ter) c.5809A>T (p.Lys1937Ter) | |
| 6 | g.7584869A= | CA1608612436 | DSP | c.6278A= (p.Lys2093=) c.7607A= (p.Lys2536=) c.5810A= (p.Lys1937=) | |
| 6 | g.7584869A>C | CA362693384 | DSP | c.6278A>C (p.Lys2093Thr) c.7607A>C (p.Lys2536Thr) c.5810A>C (p.Lys1937Thr) | gnomAD v4 |
| 6 | g.7584869A>G | CA362693385 | DSP | c.6278A>G (p.Lys2093Arg) c.7607A>G (p.Lys2536Arg) c.5810A>G (p.Lys1937Arg) | |
| 6 | g.7584869A>T | CA050271 | DSP | c.6278A>T (p.Lys2093Met) c.7607A>T (p.Lys2536Met) c.5810A>T (p.Lys1937Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584870G>A | CA448716845 | DSP | c.6279G>A (p.Lys2093=) c.7608G>A (p.Lys2536=) c.5811G>A (p.Lys1937=) | ClinVar dbSNP |
| 6 | g.7584870G>C | CA362693386 | DSP | c.6279G>C (p.Lys2093Asn) c.7608G>C (p.Lys2536Asn) c.5811G>C (p.Lys1937Asn) | |
| 6 | g.7584870G>T | CA362693387 | DSP | c.6279G>T (p.Lys2093Asn) c.7608G>T (p.Lys2536Asn) c.5811G>T (p.Lys1937Asn) | |
| 6 | g.7584871G>A | CA362693389 | DSP | c.6280G>A (p.Gly2094Ser) c.7609G>A (p.Gly2537Ser) c.5812G>A (p.Gly1938Ser) | |
| 6 | g.7584871G>C | CA133976291 | DSP | c.6280G>C (p.Gly2094Arg) c.7609G>C (p.Gly2537Arg) c.5812G>C (p.Gly1938Arg) | ClinVar dbSNP |
| 6 | g.7584871G= | CA1608612441 | DSP | c.6280G= (p.Gly2094=) c.7609G= (p.Gly2537=) c.5812G= (p.Gly1938=) | |
| 6 | g.7584871G>T | CA362693388 | DSP | c.6280G>T (p.Gly2094Cys) c.7609G>T (p.Gly2537Cys) c.5812G>T (p.Gly1938Cys) | |
| 6 | g.7584872G>A | CA362693390 | DSP | c.6281G>A (p.Gly2094Asp) c.7610G>A (p.Gly2537Asp) c.5813G>A (p.Gly1938Asp) | ClinVar |
| 6 | g.7584872G>C | CA362693391 | DSP | c.6281G>C (p.Gly2094Ala) c.7610G>C (p.Gly2537Ala) c.5813G>C (p.Gly1938Ala) | |
| 6 | g.7584872G>T | CA362693392 | DSP | c.6281G>T (p.Gly2094Val) c.7610G>T (p.Gly2537Val) c.5813G>T (p.Gly1938Val) | ClinVar |
| 6 | g.7584873C>A | CA448716854 | DSP | c.6282C>A (p.Gly2094=) c.7611C>A (p.Gly2537=) c.5814C>A (p.Gly1938=) | |
| 6 | g.7584873C>G | CA448716856 | DSP | c.6282C>G (p.Gly2094=) c.7611C>G (p.Gly2537=) c.5814C>G (p.Gly1938=) | |
| 6 | g.7584873C>T | CA448716858 | DSP | c.6282C>T (p.Gly2094=) c.7611C>T (p.Gly2537=) c.5814C>T (p.Gly1938=) | ClinVar gnomAD v4 |
| 6 | g.7584874C>A | CA362693393 | DSP | c.6283C>A (p.Leu2095Ile) c.7612C>A (p.Leu2538Ile) c.5815C>A (p.Leu1939Ile) | |
| 6 | g.7584874C= | CA1608612466 | DSP | c.6283C= (p.Leu2095=) c.7612C= (p.Leu2538=) c.5815C= (p.Leu1939=) | |
| 6 | g.7584874C>G | CA362693394 | DSP | c.6283C>G (p.Leu2095Val) c.7612C>G (p.Leu2538Val) c.5815C>G (p.Leu1939Val) | |
| 6 | g.7584874C>T | CA362693395 | DSP | c.6283C>T (p.Leu2095Phe) c.7612C>T (p.Leu2538Phe) c.5815C>T (p.Leu1939Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584874_7584877del | CA2504763720 | DSP | c.6283_6286del (p.Val2096ThrfsTer21) c.7612_7615del (p.Val2539ThrfsTer21) c.5815_5818del (p.Val1940ThrfsTer21) | |
| 6 | g.7584875T>A | CA362693398 | DSP | c.6284T>A (p.Leu2095His) c.7613T>A (p.Leu2538His) c.5816T>A (p.Leu1939His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584875T>C | CA362693397 | DSP | c.6284T>C (p.Leu2095Pro) c.7613T>C (p.Leu2538Pro) c.5816T>C (p.Leu1939Pro) | |
| 6 | g.7584875T>G | CA362693396 | DSP | c.6284T>G (p.Leu2095Arg) c.7613T>G (p.Leu2538Arg) c.5816T>G (p.Leu1939Arg) | |
| 6 | g.7584875T= | CA1608612470 | DSP | c.6284T= (p.Leu2095=) c.7613T= (p.Leu2538=) c.5816T= (p.Leu1939=) | |
| 6 | g.7584876T>A | CA448716866 | DSP | c.6285T>A (p.Leu2095=) c.7614T>A (p.Leu2538=) c.5817T>A (p.Leu1939=) | |
| 6 | g.7584876T>C | CA448716867 | DSP | c.6285T>C (p.Leu2095=) c.7614T>C (p.Leu2538=) c.5817T>C (p.Leu1939=) | |
| 6 | g.7584876T>G | CA448716871 | DSP | c.6285T>G (p.Leu2095=) c.7614T>G (p.Leu2538=) c.5817T>G (p.Leu1939=) | |
| 6 | g.7584877G>A | CA050284 | DSP | c.6286G>A (p.Val2096Ile) c.7615G>A (p.Val2539Ile) c.5818G>A (p.Val1940Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584877G>C | CA362693399 | DSP | c.6286G>C (p.Val2096Leu) c.7615G>C (p.Val2539Leu) c.5818G>C (p.Val1940Leu) | |
| 6 | g.7584877G= | CA1608612475 | DSP | c.6286G= (p.Val2096=) c.7615G= (p.Val2539=) c.5818G= (p.Val1940=) | |
| 6 | g.7584877G>T | CA362693400 | DSP | c.6286G>T (p.Val2096Phe) c.7615G>T (p.Val2539Phe) c.5818G>T (p.Val1940Phe) | |
| 6 | g.7584878T>A | CA362693401 | DSP | c.6287T>A (p.Val2096Asp) c.7616T>A (p.Val2539Asp) c.5819T>A (p.Val1940Asp) | dbSNP |
| 6 | g.7584878T>C | CA362693402 | DSP | c.6287T>C (p.Val2096Ala) c.7616T>C (p.Val2539Ala) c.5819T>C (p.Val1940Ala) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584878T>G | CA362693403 | DSP | c.6287T>G (p.Val2096Gly) c.7616T>G (p.Val2539Gly) c.5819T>G (p.Val1940Gly) | |
| 6 | g.7584878T= | CA1608612483 | DSP | c.6287T= (p.Val2096=) c.7616T= (p.Val2539=) c.5819T= (p.Val1940=) | |
| 6 | g.7584879T>A | CA448716875 | DSP | c.6288T>A (p.Val2096=) c.7617T>A (p.Val2539=) c.5820T>A (p.Val1940=) | |
| 6 | g.7584879T>C | CA448716876 | DSP | c.6288T>C (p.Val2096=) c.7617T>C (p.Val2539=) c.5820T>C (p.Val1940=) | |
| 6 | g.7584879T>G | CA448716877 | DSP | c.6288T>G (p.Val2096=) c.7617T>G (p.Val2539=) c.5820T>G (p.Val1940=) | gnomAD v4 |
| 6 | g.7584879_7584880insCATC | CA2567062384 | DSP | c.6288_6289insCATC (p.Asp2097HisfsTer7) c.7617_7618insCATC (p.Asp2540HisfsTer7) c.5820_5821insCATC (p.Asp1941HisfsTer7) | |
| 6 | g.7584880G>A | CA050297 | DSP | c.6289G>A (p.Asp2097Asn) c.7618G>A (p.Asp2540Asn) c.5821G>A (p.Asp1941Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584880G>C | CA362693405 | DSP | c.6289G>C (p.Asp2097His) c.7618G>C (p.Asp2540His) c.5821G>C (p.Asp1941His) | ClinVar gnomAD v4 |
| 6 | g.7584880G= | CA1608612490 | DSP | c.6289G= (p.Asp2097=) c.7618G= (p.Asp2540=) c.5821G= (p.Asp1941=) | |
| 6 | g.7584880G>T | CA362693404 | DSP | c.6289G>T (p.Asp2097Tyr) c.7618G>T (p.Asp2540Tyr) c.5821G>T (p.Asp1941Tyr) | |
| 6 | g.7584881A>C | CA362693406 | DSP | c.6290A>C (p.Asp2097Ala) c.7619A>C (p.Asp2540Ala) c.5822A>C (p.Asp1941Ala) | |
| 6 | g.7584881A>G | CA362693407 | DSP | c.6290A>G (p.Asp2097Gly) c.7619A>G (p.Asp2540Gly) c.5822A>G (p.Asp1941Gly) | |
| 6 | g.7584881A>T | CA362693408 | DSP | c.6290A>T (p.Asp2097Val) c.7619A>T (p.Asp2540Val) c.5822A>T (p.Asp1941Val) | ClinVar |
| 6 | g.7584882C>A | CA362693409 | DSP | c.6291C>A (p.Asp2097Glu) c.7620C>A (p.Asp2540Glu) c.5823C>A (p.Asp1941Glu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584882C>G | CA362693410 | DSP | c.6291C>G (p.Asp2097Glu) c.7620C>G (p.Asp2540Glu) c.5823C>G (p.Asp1941Glu) | |
| 6 | g.7584882C>T | CA448716883 | DSP | c.6291C>T (p.Asp2097=) c.7620C>T (p.Asp2540=) c.5823C>T (p.Asp1941=) | gnomAD v4 |
| 6 | g.7584883A= | CA1608612494 | DSP | c.6292A= (p.Arg2098=) c.7621A= (p.Arg2541=) c.5824A= (p.Arg1942=) | |
| 6 | g.7584883A>C | CA050307 | DSP | c.6292A>C (p.Arg2098=) c.7621A>C (p.Arg2541=) c.5824A>C (p.Arg1942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584883A>G | CA362693411 | DSP | c.6292A>G (p.Arg2098Gly) c.7621A>G (p.Arg2541Gly) c.5824A>G (p.Arg1942Gly) | |
| 6 | g.7584883A>T | CA362693412 | DSP | c.6292A>T (p.Arg2098Trp) c.7621A>T (p.Arg2541Trp) c.5824A>T (p.Arg1942Trp) | gnomAD v4 |
| 6 | g.7584883_7584884delinsAG | CA1608612493 | DSP | c.6292_6293delinsAG (p.Arg2098=) c.7621_7622delinsAG (p.Arg2541=) c.5824_5825delinsAG (p.Arg1942=) | |
| 6 | g.7584884G>A | CA050314 | DSP | c.6293G>A (p.Arg2098Lys) c.7622G>A (p.Arg2541Lys) c.5825G>A (p.Arg1942Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584884G>C | CA362693413 | DSP | c.6293G>C (p.Arg2098Thr) c.7622G>C (p.Arg2541Thr) c.5825G>C (p.Arg1942Thr) | dbSNP |
| 6 | g.7584884G= | CA1608612502 | DSP | c.6293G= (p.Arg2098=) c.7622G= (p.Arg2541=) c.5825G= (p.Arg1942=) | |
| 6 | g.7584884G>T | CA362693414 | DSP | c.6293G>T (p.Arg2098Met) c.7622G>T (p.Arg2541Met) c.5825G>T (p.Arg1942Met) | |
| 6 | g.7584885dup | CA565358158 | DSP | c.6294dup (p.Lys2099GlufsTer4) c.7623dup (p.Lys2542GlufsTer4) c.5826dup (p.Lys1943GlufsTer4) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584885del | CA007248 | DSP | c.6294del (p.Lys2099SerfsTer19) c.7623del (p.Lys2542SerfsTer19) c.5826del (p.Lys1943SerfsTer19) | ClinVar dbSNP |
| 6 | g.7584885G>A | CA448716892 | DSP | c.6294G>A (p.Arg2098=) c.7623G>A (p.Arg2541=) c.5826G>A (p.Arg1942=) | |
| 6 | g.7584885G>C | CA362693416 | DSP | c.6294G>C (p.Arg2098Ser) c.7623G>C (p.Arg2541Ser) c.5826G>C (p.Arg1942Ser) | |
| 6 | g.7584885G>T | CA362693415 | DSP | c.6294G>T (p.Arg2098Ser) c.7623G>T (p.Arg2541Ser) c.5826G>T (p.Arg1942Ser) | gnomAD v4 |
| 6 | g.7584886A>C | CA362693417 | DSP | c.6295A>C (p.Lys2099Gln) c.7624A>C (p.Lys2542Gln) c.5827A>C (p.Lys1943Gln) | |
| 6 | g.7584886A>G | CA362693419 | DSP | c.6295A>G (p.Lys2099Glu) c.7624A>G (p.Lys2542Glu) c.5827A>G (p.Lys1943Glu) | |
| 6 | g.7584886A>T | CA362693418 | DSP | c.6295A>T (p.Lys2099Ter) c.7624A>T (p.Lys2542Ter) c.5827A>T (p.Lys1943Ter) | |
| 6 | g.7584887A>C | CA362693420 | DSP | c.6296A>C (p.Lys2099Thr) c.7625A>C (p.Lys2542Thr) c.5828A>C (p.Lys1943Thr) | |
| 6 | g.7584887A>G | CA362693421 | DSP | c.6296A>G (p.Lys2099Arg) c.7625A>G (p.Lys2542Arg) c.5828A>G (p.Lys1943Arg) | |
| 6 | g.7584887A>T | CA362693422 | DSP | c.6296A>T (p.Lys2099Met) c.7625A>T (p.Lys2542Met) c.5828A>T (p.Lys1943Met) | COSMIC |
| 6 | g.7584888G>A | CA448716898 | DSP | c.6297G>A (p.Lys2099=) c.7626G>A (p.Lys2542=) c.5829G>A (p.Lys1943=) | |
| 6 | g.7584888G>C | CA362693423 | DSP | c.6297G>C (p.Lys2099Asn) c.7626G>C (p.Lys2542Asn) c.5829G>C (p.Lys1943Asn) | |
| 6 | g.7584888G>T | CA362693424 | DSP | c.6297G>T (p.Lys2099Asn) c.7626G>T (p.Lys2542Asn) c.5829G>T (p.Lys1943Asn) | |
| 6 | g.7584889T>A | CA362693425 | DSP | c.6298T>A (p.Phe2100Ile) c.7627T>A (p.Phe2543Ile) c.5830T>A (p.Phe1944Ile) | |
| 6 | g.7584889T>C | CA362693426 | DSP | c.6298T>C (p.Phe2100Leu) c.7627T>C (p.Phe2543Leu) c.5830T>C (p.Phe1944Leu) | |
| 6 | g.7584889T>G | CA362693427 | DSP | c.6298T>G (p.Phe2100Val) c.7627T>G (p.Phe2543Val) c.5830T>G (p.Phe1944Val) | |
| 6 | g.7584890T>A | CA362693428 | DSP | c.6299T>A (p.Phe2100Tyr) c.7628T>A (p.Phe2543Tyr) c.5831T>A (p.Phe1944Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584890T>C | CA362693429 | DSP | c.6299T>C (p.Phe2100Ser) c.7628T>C (p.Phe2543Ser) c.5831T>C (p.Phe1944Ser) | gnomAD v4 |
| 6 | g.7584890T>G | CA362693430 | DSP | c.6299T>G (p.Phe2100Cys) c.7628T>G (p.Phe2543Cys) c.5831T>G (p.Phe1944Cys) | |
| 6 | g.7584890T= | CA1608612510 | DSP | c.6299T= (p.Phe2100=) c.7628T= (p.Phe2543=) c.5831T= (p.Phe1944=) | |
| 6 | g.7584891del | CA2677220394 | DSP | c.6300del (p.Phe2101LeufsTer17) c.7629del (p.Phe2544LeufsTer17) c.5832del (p.Phe1945LeufsTer17) | gnomAD v4 |
| 6 | g.7584891C>A | CA362693431 | DSP | c.6300C>A (p.Phe2100Leu) c.7629C>A (p.Phe2543Leu) c.5832C>A (p.Phe1944Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584891C= | CA1608612513 | DSP | c.6300C= (p.Phe2100=) c.7629C= (p.Phe2543=) c.5832C= (p.Phe1944=) | |
| 6 | g.7584891C>G | CA362693432 | DSP | c.6300C>G (p.Phe2100Leu) c.7629C>G (p.Phe2543Leu) c.5832C>G (p.Phe1944Leu) | |
| 6 | g.7584891C>T | CA448716909 | DSP | c.6300C>T (p.Phe2100=) c.7629C>T (p.Phe2543=) c.5832C>T (p.Phe1944=) | |
| 6 | g.7584892T>A | CA362693433 | DSP | c.6301T>A (p.Phe2101Ile) c.7630T>A (p.Phe2544Ile) c.5833T>A (p.Phe1945Ile) | |
| 6 | g.7584892T>C | CA362693434 | DSP | c.6301T>C (p.Phe2101Leu) c.7630T>C (p.Phe2544Leu) c.5833T>C (p.Phe1945Leu) | |
| 6 | g.7584892T>G | CA050328 | DSP | c.6301T>G (p.Phe2101Val) c.7630T>G (p.Phe2544Val) c.5833T>G (p.Phe1945Val) | dbSNP ExAC gnomAD v2 |
| 6 | g.7584892T= | CA1608612517 | DSP | c.6301T= (p.Phe2101=) c.7630T= (p.Phe2544=) c.5833T= (p.Phe1945=) | |
| 6 | g.7584893T>A | CA362693435 | DSP | c.6302T>A (p.Phe2101Tyr) c.7631T>A (p.Phe2544Tyr) c.5834T>A (p.Phe1945Tyr) | |
| 6 | g.7584893T>C | CA362693436 | DSP | c.6302T>C (p.Phe2101Ser) c.7631T>C (p.Phe2544Ser) c.5834T>C (p.Phe1945Ser) | |
| 6 | g.7584893T>G | CA362693437 | DSP | c.6302T>G (p.Phe2101Cys) c.7631T>G (p.Phe2544Cys) c.5834T>G (p.Phe1945Cys) | |
| 6 | g.7584894T>A | CA362693438 | DSP | c.6303T>A (p.Phe2101Leu) c.7632T>A (p.Phe2544Leu) c.5835T>A (p.Phe1945Leu) | |
| 6 | g.7584894T>C | CA448716922 | DSP | c.6303T>C (p.Phe2101=) c.7632T>C (p.Phe2544=) c.5835T>C (p.Phe1945=) | |
| 6 | g.7584894T>G | CA362693439 | DSP | c.6303T>G (p.Phe2101Leu) c.7632T>G (p.Phe2544Leu) c.5835T>G (p.Phe1945Leu) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584894T= | CA1608612526 | DSP | c.6303T= (p.Phe2101=) c.7632T= (p.Phe2544=) c.5835T= (p.Phe1945=) | |
| 6 | g.7584895G>A | CA362693440 | DSP | c.6304G>A (p.Asp2102Asn) c.7633G>A (p.Asp2545Asn) c.5836G>A (p.Asp1946Asn) | ClinVar |
| 6 | g.7584895G>C | CA362693441 | DSP | c.6304G>C (p.Asp2102His) c.7633G>C (p.Asp2545His) c.5836G>C (p.Asp1946His) | |
| 6 | g.7584895G>T | CA362693442 | DSP | c.6304G>T (p.Asp2102Tyr) c.7633G>T (p.Asp2545Tyr) c.5836G>T (p.Asp1946Tyr) | ClinVar |
| 6 | g.7584896A>C | CA362693443 | DSP | c.6305A>C (p.Asp2102Ala) c.7634A>C (p.Asp2545Ala) c.5837A>C (p.Asp1946Ala) | |
| 6 | g.7584896A>G | CA362693444 | DSP | c.6305A>G (p.Asp2102Gly) c.7634A>G (p.Asp2545Gly) c.5837A>G (p.Asp1946Gly) | |
| 6 | g.7584896A>T | CA362693445 | DSP | c.6305A>T (p.Asp2102Val) c.7634A>T (p.Asp2545Val) c.5837A>T (p.Asp1946Val) | |
| 6 | g.7584897T>A | CA362693447 | DSP | c.6306T>A (p.Asp2102Glu) c.7635T>A (p.Asp2545Glu) c.5838T>A (p.Asp1946Glu) | |
| 6 | g.7584897T>C | CA448716928 | DSP | c.6306T>C (p.Asp2102=) c.7635T>C (p.Asp2545=) c.5838T>C (p.Asp1946=) | |
| 6 | g.7584897T>G | CA362693446 | DSP | c.6306T>G (p.Asp2102Glu) c.7635T>G (p.Asp2545Glu) c.5838T>G (p.Asp1946Glu) | ClinVar dbSNP |
| 6 | g.7584897T= | CA1608612534 | DSP | c.6306T= (p.Asp2102=) c.7635T= (p.Asp2545=) c.5838T= (p.Asp1946=) | |
| 6 | g.7584898C>A | CA362693448 | DSP | c.6307C>A (p.Gln2103Lys) c.7636C>A (p.Gln2546Lys) c.5839C>A (p.Gln1947Lys) | |
| 6 | g.7584898C= | CA1608612536 | DSP | c.6307C= (p.Gln2103=) c.7636C= (p.Gln2546=) c.5839C= (p.Gln1947=) | |
| 6 | g.7584898C>G | CA362693449 | DSP | c.6307C>G (p.Gln2103Glu) c.7636C>G (p.Gln2546Glu) c.5839C>G (p.Gln1947Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584898C>T | CA362693450 | DSP | c.6307C>T (p.Gln2103Ter) c.7636C>T (p.Gln2546Ter) c.5839C>T (p.Gln1947Ter) | gnomAD v4 |
| 6 | g.7584899A= | CA1608612538 | DSP | c.6308A= (p.Gln2103=) c.7637A= (p.Gln2546=) c.5840A= (p.Gln1947=) | |
| 6 | g.7584899A>C | CA362693451 | DSP | c.6308A>C (p.Gln2103Pro) c.7637A>C (p.Gln2546Pro) c.5840A>C (p.Gln1947Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584899A>G | CA362693452 | DSP | c.6308A>G (p.Gln2103Arg) c.7637A>G (p.Gln2546Arg) c.5840A>G (p.Gln1947Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584899A>T | CA362693453 | DSP | c.6308A>T (p.Gln2103Leu) c.7637A>T (p.Gln2546Leu) c.5840A>T (p.Gln1947Leu) | |
| 6 | g.7584900G>A | CA448716937 | DSP | c.6309G>A (p.Gln2103=) c.7638G>A (p.Gln2546=) c.5841G>A (p.Gln1947=) | gnomAD v4 |
| 6 | g.7584900G>C | CA362693454 | DSP | c.6309G>C (p.Gln2103His) c.7638G>C (p.Gln2546His) c.5841G>C (p.Gln1947His) | |
| 6 | g.7584900G>T | CA362693455 | DSP | c.6309G>T (p.Gln2103His) c.7638G>T (p.Gln2546His) c.5841G>T (p.Gln1947His) | |
| 6 | g.7584901T>A | CA362693456 | DSP | c.6310T>A (p.Tyr2104Asn) c.7639T>A (p.Tyr2547Asn) c.5842T>A (p.Tyr1948Asn) | gnomAD v4 |
| 6 | g.7584901T>C | CA362693457 | DSP | c.6310T>C (p.Tyr2104His) c.7639T>C (p.Tyr2547His) c.5842T>C (p.Tyr1948His) | |
| 6 | g.7584901T>G | CA362693458 | DSP | c.6310T>G (p.Tyr2104Asp) c.7639T>G (p.Tyr2547Asp) c.5842T>G (p.Tyr1948Asp) | |
| 6 | g.7584902A= | CA1608612544 | DSP | c.6311A= (p.Tyr2104=) c.7640A= (p.Tyr2547=) c.5843A= (p.Tyr1948=) | |
| 6 | g.7584902A>C | CA362693459 | DSP | c.6311A>C (p.Tyr2104Ser) c.7640A>C (p.Tyr2547Ser) c.5843A>C (p.Tyr1948Ser) | dbSNP |
| 6 | g.7584902A>G | CA362693460 | DSP | c.6311A>G (p.Tyr2104Cys) c.7640A>G (p.Tyr2547Cys) c.5843A>G (p.Tyr1948Cys) | |
| 6 | g.7584902A>T | CA362693461 | DSP | c.6311A>T (p.Tyr2104Phe) c.7640A>T (p.Tyr2547Phe) c.5843A>T (p.Tyr1948Phe) | |
| 6 | g.7584903C>A | CA362693463 | DSP | c.6312C>A (p.Tyr2104Ter) c.7641C>A (p.Tyr2547Ter) c.5844C>A (p.Tyr1948Ter) | |
| 6 | g.7584903C= | CA1608612555 | DSP | c.6312C= (p.Tyr2104=) c.7641C= (p.Tyr2547=) c.5844C= (p.Tyr1948=) | |
| 6 | g.7584903C>G | CA362693462 | DSP | c.6312C>G (p.Tyr2104Ter) c.7641C>G (p.Tyr2547Ter) c.5844C>G (p.Tyr1948Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584903C>T | CA448716948 | DSP | c.6312C>T (p.Tyr2104=) c.7641C>T (p.Tyr2547=) c.5844C>T (p.Tyr1948=) | ClinVar |
| 6 | g.7584904C>A | CA448716949 | DSP | c.6313C>A (p.Arg2105=) c.7642C>A (p.Arg2548=) c.5845C>A (p.Arg1949=) | |
| 6 | g.7584904C= | CA1608612562 | DSP | c.6313C= (p.Arg2105=) c.7642C= (p.Arg2548=) c.5845C= (p.Arg1949=) | |
| 6 | g.7584904C>G | CA133976314 | DSP | c.6313C>G (p.Arg2105Gly) c.7642C>G (p.Arg2548Gly) c.5845C>G (p.Arg1949Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584904C>T | CA362693464 | DSP | c.6313C>T (p.Arg2105Ter) c.7642C>T (p.Arg2548Ter) c.5845C>T (p.Arg1949Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584905G>A | CA133976323 | DSP | c.6314G>A (p.Arg2105Gln) c.7643G>A (p.Arg2548Gln) c.5846G>A (p.Arg1949Gln) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584905G>C | CA362693465 | DSP | c.6314G>C (p.Arg2105Pro) c.7643G>C (p.Arg2548Pro) c.5846G>C (p.Arg1949Pro) | ClinVar |
| 6 | g.7584905G= | CA1608612573 | DSP | c.6314G= (p.Arg2105=) c.7643G= (p.Arg2548=) c.5846G= (p.Arg1949=) | |
| 6 | g.7584905G>T | CA362693466 | DSP | c.6314G>T (p.Arg2105Leu) c.7643G>T (p.Arg2548Leu) c.5846G>T (p.Arg1949Leu) | |
| 6 | g.7584906A= | CA1608612585 | DSP | c.6315A= (p.Arg2105=) c.7644A= (p.Arg2548=) c.5847A= (p.Arg1949=) | |
| 6 | g.7584906A>C | CA448716955 | DSP | c.6315A>C (p.Arg2105=) c.7644A>C (p.Arg2548=) c.5847A>C (p.Arg1949=) | |
| 6 | g.7584906A>G | CA448716954 | DSP | c.6315A>G (p.Arg2105=) c.7644A>G (p.Arg2548=) c.5847A>G (p.Arg1949=) | |
| 6 | g.7584906A>T | CA10587636 | DSP | c.6315A>T (p.Arg2105=) c.7644A>T (p.Arg2548=) c.5847A>T (p.Arg1949=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584907T>A | CA362693467 | DSP | c.6316T>A (p.Ser2106Thr) c.7645T>A (p.Ser2549Thr) c.5848T>A (p.Ser1950Thr) | |
| 6 | g.7584907T>C | CA362693468 | DSP | c.6316T>C (p.Ser2106Pro) c.7645T>C (p.Ser2549Pro) c.5848T>C (p.Ser1950Pro) | |
| 6 | g.7584907T>G | CA362693469 | DSP | c.6316T>G (p.Ser2106Ala) c.7645T>G (p.Ser2549Ala) c.5848T>G (p.Ser1950Ala) | gnomAD v4 |
| 6 | g.7584908C>A | CA362693470 | DSP | c.6317C>A (p.Ser2106Tyr) c.7646C>A (p.Ser2549Tyr) c.5849C>A (p.Ser1950Tyr) | gnomAD v4 |
| 6 | g.7584908C= | CA1608612598 | DSP | c.6317C= (p.Ser2106=) c.7646C= (p.Ser2549=) c.5849C= (p.Ser1950=) | |
| 6 | g.7584908C>G | CA362693471 | DSP | c.6317C>G (p.Ser2106Cys) c.7646C>G (p.Ser2549Cys) c.5849C>G (p.Ser1950Cys) | |
| 6 | g.7584908C>T | CA362693472 | DSP | c.6317C>T (p.Ser2106Phe) c.7646C>T (p.Ser2549Phe) c.5849C>T (p.Ser1950Phe) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584909C>A | CA448716965 | DSP | c.6318C>A (p.Ser2106=) c.7647C>A (p.Ser2549=) c.5850C>A (p.Ser1950=) | |
| 6 | g.7584909C= | CA1608612609 | DSP | c.6318C= (p.Ser2106=) c.7647C= (p.Ser2549=) c.5850C= (p.Ser1950=) | |
| 6 | g.7584909C>G | CA448716964 | DSP | c.6318C>G (p.Ser2106=) c.7647C>G (p.Ser2549=) c.5850C>G (p.Ser1950=) | dbSNP |
| 6 | g.7584909C>T | CA050340 | DSP | c.6318C>T (p.Ser2106=) c.7647C>T (p.Ser2549=) c.5850C>T (p.Ser1950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584910G>A | CA050354 | DSP | c.6319G>A (p.Gly2107Ser) c.7648G>A (p.Gly2550Ser) c.5851G>A (p.Gly1951Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584910G>C | CA050364 | DSP | c.6319G>C (p.Gly2107Arg) c.7648G>C (p.Gly2550Arg) c.5851G>C (p.Gly1951Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584910G= | CA1608612620 | DSP | c.6319G= (p.Gly2107=) c.7648G= (p.Gly2550=) c.5851G= (p.Gly1951=) | |
| 6 | g.7584910G>T | CA362693473 | DSP | c.6319G>T (p.Gly2107Cys) c.7648G>T (p.Gly2550Cys) c.5851G>T (p.Gly1951Cys) | |
| 6 | g.7584911G>A | CA133976369 | DSP | c.6320G>A (p.Gly2107Asp) c.7649G>A (p.Gly2550Asp) c.5852G>A (p.Gly1951Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584911G>C | CA362693474 | DSP | c.6320G>C (p.Gly2107Ala) c.7649G>C (p.Gly2550Ala) c.5852G>C (p.Gly1951Ala) | gnomAD v4 |
| 6 | g.7584911G= | CA1608612630 | DSP | c.6320G= (p.Gly2107=) c.7649G= (p.Gly2550=) c.5852G= (p.Gly1951=) | |
| 6 | g.7584911G>T | CA362693475 | DSP | c.6320G>T (p.Gly2107Val) c.7649G>T (p.Gly2550Val) c.5852G>T (p.Gly1951Val) | COSMIC |
| 6 | g.7584912C>A | CA448716968 | DSP | c.6321C>A (p.Gly2107=) c.7650C>A (p.Gly2550=) c.5853C>A (p.Gly1951=) | |
| 6 | g.7584912C= | CA1608612638 | DSP | c.6321C= (p.Gly2107=) c.7650C= (p.Gly2550=) c.5853C= (p.Gly1951=) | |
| 6 | g.7584912C>G | CA448716972 | DSP | c.6321C>G (p.Gly2107=) c.7650C>G (p.Gly2550=) c.5853C>G (p.Gly1951=) | ClinVar dbSNP |
| 6 | g.7584912C>T | CA050371 | DSP | c.6321C>T (p.Gly2107=) c.7650C>T (p.Gly2550=) c.5853C>T (p.Gly1951=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584913A= | CA1608612648 | DSP | c.6322A= (p.Ser2108=) c.7651A= (p.Ser2551=) c.5854A= (p.Ser1952=) | |
| 6 | g.7584913A>C | CA362693476 | DSP | c.6322A>C (p.Ser2108Arg) c.7651A>C (p.Ser2551Arg) c.5854A>C (p.Ser1952Arg) | |
| 6 | g.7584913A>G | CA362693477 | DSP | c.6322A>G (p.Ser2108Gly) c.7651A>G (p.Ser2551Gly) c.5854A>G (p.Ser1952Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584913A>T | CA362693478 | DSP | c.6322A>T (p.Ser2108Cys) c.7651A>T (p.Ser2551Cys) c.5854A>T (p.Ser1952Cys) | |
| 6 | g.7584914G>A | CA362693479 | DSP | c.6323G>A (p.Ser2108Asn) c.7652G>A (p.Ser2551Asn) c.5855G>A (p.Ser1952Asn) | |
| 6 | g.7584914G>C | CA362693480 | DSP | c.6323G>C (p.Ser2108Thr) c.7652G>C (p.Ser2551Thr) c.5855G>C (p.Ser1952Thr) | |
| 6 | g.7584914G>T | CA362693481 | DSP | c.6323G>T (p.Ser2108Ile) c.7652G>T (p.Ser2551Ile) c.5855G>T (p.Ser1952Ile) | |
| 6 | g.7584915C>A | CA362693482 | DSP | c.6324C>A (p.Ser2108Arg) c.7653C>A (p.Ser2551Arg) c.5856C>A (p.Ser1952Arg) | |
| 6 | g.7584915C= | CA1608612652 | DSP | c.6324C= (p.Ser2108=) c.7653C= (p.Ser2551=) c.5856C= (p.Ser1952=) | |
| 6 | g.7584915C>G | CA362693483 | DSP | c.6324C>G (p.Ser2108Arg) c.7653C>G (p.Ser2551Arg) c.5856C>G (p.Ser1952Arg) | |
| 6 | g.7584915C>T | CA050381 | DSP | c.6324C>T (p.Ser2108=) c.7653C>T (p.Ser2551=) c.5856C>T (p.Ser1952=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584916C>A | CA362693486 | DSP | c.6325C>A (p.Leu2109Ile) c.7654C>A (p.Leu2552Ile) c.5857C>A (p.Leu1953Ile) | |
| 6 | g.7584916C= | CA1608612660 | DSP | c.6325C= (p.Leu2109=) c.7654C= (p.Leu2552=) c.5857C= (p.Leu1953=) | |
| 6 | g.7584916C>G | CA362693485 | DSP | c.6325C>G (p.Leu2109Val) c.7654C>G (p.Leu2552Val) c.5857C>G (p.Leu1953Val) | dbSNP |
| 6 | g.7584916C>T | CA362693484 | DSP | c.6325C>T (p.Leu2109Phe) c.7654C>T (p.Leu2552Phe) c.5857C>T (p.Leu1953Phe) | |
| 6 | g.7584917T>A | CA362693487 | DSP | c.6326T>A (p.Leu2109His) c.7655T>A (p.Leu2552His) c.5858T>A (p.Leu1953His) | |
| 6 | g.7584917T>C | CA362693488 | DSP | c.6326T>C (p.Leu2109Pro) c.7655T>C (p.Leu2552Pro) c.5858T>C (p.Leu1953Pro) | dbSNP |
| 6 | g.7584917T>G | CA362693489 | DSP | c.6326T>G (p.Leu2109Arg) c.7655T>G (p.Leu2552Arg) c.5858T>G (p.Leu1953Arg) | |
| 6 | g.7584917T= | CA1608612663 | DSP | c.6326T= (p.Leu2109=) c.7655T= (p.Leu2552=) c.5858T= (p.Leu1953=) | |
| 6 | g.7584918C>A | CA448716983 | DSP | c.6327C>A (p.Leu2109=) c.7656C>A (p.Leu2552=) c.5859C>A (p.Leu1953=) | |
| 6 | g.7584918C= | CA1608612671 | DSP | c.6327C= (p.Leu2109=) c.7656C= (p.Leu2552=) c.5859C= (p.Leu1953=) | |
| 6 | g.7584918C>G | CA133976376 | DSP | c.6327C>G (p.Leu2109=) c.7656C>G (p.Leu2552=) c.5859C>G (p.Leu1953=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584918C>T | CA448716986 | DSP | c.6327C>T (p.Leu2109=) c.7656C>T (p.Leu2552=) c.5859C>T (p.Leu1953=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584918_7584919dup | CA2578524530 | DSP | c.6327_6328dup (p.Ser2110ThrfsTer9) c.7656_7657dup (p.Ser2553ThrfsTer9) c.5859_5860dup (p.Ser1954ThrfsTer9) | |
| 6 | g.7584919A= | CA1608612684 | DSP | c.6328A= (p.Ser2110=) c.7657A= (p.Ser2553=) c.5860A= (p.Ser1954=) | |
| 6 | g.7584919A>C | CA362693490 | DSP | c.6328A>C (p.Ser2110Arg) c.7657A>C (p.Ser2553Arg) c.5860A>C (p.Ser1954Arg) | |
| 6 | g.7584919A>G | CA133976392 | DSP | c.6328A>G (p.Ser2110Gly) c.7657A>G (p.Ser2553Gly) c.5860A>G (p.Ser1954Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584919A>T | CA362693491 | DSP | c.6328A>T (p.Ser2110Cys) c.7657A>T (p.Ser2553Cys) c.5860A>T (p.Ser1954Cys) | |
| 6 | g.7584920G>A | CA362693492 | DSP | c.6329G>A (p.Ser2110Asn) c.7658G>A (p.Ser2553Asn) c.5861G>A (p.Ser1954Asn) | |
| 6 | g.7584920G>C | CA362693493 | DSP | c.6329G>C (p.Ser2110Thr) c.7658G>C (p.Ser2553Thr) c.5861G>C (p.Ser1954Thr) | |
| 6 | g.7584920G>T | CA362693494 | DSP | c.6329G>T (p.Ser2110Ile) c.7658G>T (p.Ser2553Ile) c.5861G>T (p.Ser1954Ile) | |
| 6 | g.7584921C>A | CA362693495 | DSP | c.6330C>A (p.Ser2110Arg) c.7659C>A (p.Ser2553Arg) c.5862C>A (p.Ser1954Arg) | |
| 6 | g.7584921C>G | CA362693496 | DSP | c.6330C>G (p.Ser2110Arg) c.7659C>G (p.Ser2553Arg) c.5862C>G (p.Ser1954Arg) | |
| 6 | g.7584921C>T | CA448716997 | DSP | c.6330C>T (p.Ser2110=) c.7659C>T (p.Ser2553=) c.5862C>T (p.Ser1954=) | ClinVar |
| 6 | g.7584922C>A | CA362693497 | DSP | c.6331C>A (p.Leu2111Ile) c.7660C>A (p.Leu2554Ile) c.5863C>A (p.Leu1955Ile) | |
| 6 | g.7584922C>G | CA362693498 | DSP | c.6331C>G (p.Leu2111Val) c.7660C>G (p.Leu2554Val) c.5863C>G (p.Leu1955Val) | |
| 6 | g.7584922C>T | CA362693499 | DSP | c.6331C>T (p.Leu2111Phe) c.7660C>T (p.Leu2554Phe) c.5863C>T (p.Leu1955Phe) | |
| 6 | g.7584923T>A | CA362693502 | DSP | c.6332T>A (p.Leu2111His) c.7661T>A (p.Leu2554His) c.5864T>A (p.Leu1955His) | |
| 6 | g.7584923T>C | CA362693501 | DSP | c.6332T>C (p.Leu2111Pro) c.7661T>C (p.Leu2554Pro) c.5864T>C (p.Leu1955Pro) | |
| 6 | g.7584923T>G | CA362693500 | DSP | c.6332T>G (p.Leu2111Arg) c.7661T>G (p.Leu2554Arg) c.5864T>G (p.Leu1955Arg) | |
| 6 | g.7584924del | CA2580075378 | DSP | c.6333del (p.Thr2112LeufsTer6) c.7662del (p.Thr2555LeufsTer6) c.5865del (p.Thr1956LeufsTer6) | ClinVar |
| 6 | g.7584924C>A | CA448717003 | DSP | c.6333C>A (p.Leu2111=) c.7662C>A (p.Leu2554=) c.5865C>A (p.Leu1955=) | |
| 6 | g.7584924C>G | CA448717004 | DSP | c.6333C>G (p.Leu2111=) c.7662C>G (p.Leu2554=) c.5865C>G (p.Leu1955=) | |
| 6 | g.7584924C>T | CA448717006 | DSP | c.6333C>T (p.Leu2111=) c.7662C>T (p.Leu2554=) c.5865C>T (p.Leu1955=) | |
| 6 | g.7584925A>C | CA362693503 | DSP | c.6334A>C (p.Thr2112Pro) c.7663A>C (p.Thr2555Pro) c.5866A>C (p.Thr1956Pro) | |
| 6 | g.7584925A>G | CA362693504 | DSP | c.6334A>G (p.Thr2112Ala) c.7663A>G (p.Thr2555Ala) c.5866A>G (p.Thr1956Ala) | |
| 6 | g.7584925A>T | CA362693505 | DSP | c.6334A>T (p.Thr2112Ser) c.7663A>T (p.Thr2555Ser) c.5866A>T (p.Thr1956Ser) | |
| 6 | g.7584926C>A | CA362693506 | DSP | c.6335C>A (p.Thr2112Asn) c.7664C>A (p.Thr2555Asn) c.5867C>A (p.Thr1956Asn) | |
| 6 | g.7584926C= | CA1608612696 | DSP | c.6335C= (p.Thr2112=) c.7664C= (p.Thr2555=) c.5867C= (p.Thr1956=) | |
| 6 | g.7584926C>G | CA362693507 | DSP | c.6335C>G (p.Thr2112Ser) c.7664C>G (p.Thr2555Ser) c.5867C>G (p.Thr1956Ser) | gnomAD v4 |
| 6 | g.7584926C>T | CA050411 | DSP | c.6335C>T (p.Thr2112Ile) c.7664C>T (p.Thr2555Ile) c.5867C>T (p.Thr1956Ile) | dbSNP ExAC |
| 6 | g.7584927T>A | CA448717015 | DSP | c.6336T>A (p.Thr2112=) c.7665T>A (p.Thr2555=) c.5868T>A (p.Thr1956=) | |
| 6 | g.7584927T>C | CA448717014 | DSP | c.6336T>C (p.Thr2112=) c.7665T>C (p.Thr2555=) c.5868T>C (p.Thr1956=) | gnomAD v4 |
| 6 | g.7584927T>G | CA448717013 | DSP | c.6336T>G (p.Thr2112=) c.7665T>G (p.Thr2555=) c.5868T>G (p.Thr1956=) | |
| 6 | g.7584928C>A | CA362693510 | DSP | c.6337C>A (p.Gln2113Lys) c.7666C>A (p.Gln2556Lys) c.5869C>A (p.Gln1957Lys) | |
| 6 | g.7584928C>G | CA362693508 | DSP | c.6337C>G (p.Gln2113Glu) c.7666C>G (p.Gln2556Glu) c.5869C>G (p.Gln1957Glu) | |
| 6 | g.7584928C>T | CA362693509 | DSP | c.6337C>T (p.Gln2113Ter) c.7666C>T (p.Gln2556Ter) c.5869C>T (p.Gln1957Ter) | |
| 6 | g.7584929A= | CA1608612713 | DSP | c.6338A= (p.Gln2113=) c.7667A= (p.Gln2556=) c.5870A= (p.Gln1957=) | |
| 6 | g.7584929A>C | CA362693511 | DSP | c.6338A>C (p.Gln2113Pro) c.7667A>C (p.Gln2556Pro) c.5870A>C (p.Gln1957Pro) | |
| 6 | g.7584929A>G | CA362693512 | DSP | c.6338A>G (p.Gln2113Arg) c.7667A>G (p.Gln2556Arg) c.5870A>G (p.Gln1957Arg) | |
| 6 | g.7584929A>T | CA133976393 | DSP | c.6338A>T (p.Gln2113Leu) c.7667A>T (p.Gln2556Leu) c.5870A>T (p.Gln1957Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584930A= | CA1608612722 | DSP | c.6339A= (p.Gln2113=) c.7668A= (p.Gln2556=) c.5871A= (p.Gln1957=) | |
| 6 | g.7584930A>C | CA362693513 | DSP | c.6339A>C (p.Gln2113His) c.7668A>C (p.Gln2556His) c.5871A>C (p.Gln1957His) | |
| 6 | g.7584930A>G | CA448717019 | DSP | c.6339A>G (p.Gln2113=) c.7668A>G (p.Gln2556=) c.5871A>G (p.Gln1957=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584930A>T | CA362693514 | DSP | c.6339A>T (p.Gln2113His) c.7668A>T (p.Gln2556His) c.5871A>T (p.Gln1957His) | |
| 6 | g.7584931T>A | CA362693515 | DSP | c.6340T>A (p.Phe2114Ile) c.7669T>A (p.Phe2557Ile) c.5872T>A (p.Phe1958Ile) | |
| 6 | g.7584931T>C | CA362693517 | DSP | c.6340T>C (p.Phe2114Leu) c.7669T>C (p.Phe2557Leu) c.5872T>C (p.Phe1958Leu) | |
| 6 | g.7584931T>G | CA362693516 | DSP | c.6340T>G (p.Phe2114Val) c.7669T>G (p.Phe2557Val) c.5872T>G (p.Phe1958Val) | gnomAD v4 |
| 6 | g.7584932T>A | CA362693518 | DSP | c.6341T>A (p.Phe2114Tyr) c.7670T>A (p.Phe2557Tyr) c.5873T>A (p.Phe1958Tyr) | |
| 6 | g.7584932T>C | CA362693519 | DSP | c.6341T>C (p.Phe2114Ser) c.7670T>C (p.Phe2557Ser) c.5873T>C (p.Phe1958Ser) | |
| 6 | g.7584932T>G | CA362693520 | DSP | c.6341T>G (p.Phe2114Cys) c.7670T>G (p.Phe2557Cys) c.5873T>G (p.Phe1958Cys) | |
| 6 | g.7584933T>A | CA362693521 | DSP | c.6342T>A (p.Phe2114Leu) c.7671T>A (p.Phe2557Leu) c.5874T>A (p.Phe1958Leu) | |
| 6 | g.7584933T>C | CA448717024 | DSP | c.6342T>C (p.Phe2114=) c.7671T>C (p.Phe2557=) c.5874T>C (p.Phe1958=) | |
| 6 | g.7584933T>G | CA362693522 | DSP | c.6342T>G (p.Phe2114Leu) c.7671T>G (p.Phe2557Leu) c.5874T>G (p.Phe1958Leu) | |
| 6 | g.7584934G>A | CA362693523 | DSP | c.6343G>A (p.Ala2115Thr) c.7672G>A (p.Ala2558Thr) c.5875G>A (p.Ala1959Thr) | |
| 6 | g.7584934G>C | CA362693524 | DSP | c.6343G>C (p.Ala2115Pro) c.7672G>C (p.Ala2558Pro) c.5875G>C (p.Ala1959Pro) | |
| 6 | g.7584934G>T | CA362693525 | DSP | c.6343G>T (p.Ala2115Ser) c.7672G>T (p.Ala2558Ser) c.5875G>T (p.Ala1959Ser) | |
| 6 | g.7584935C>A | CA362693526 | DSP | c.6344C>A (p.Ala2115Asp) c.7673C>A (p.Ala2558Asp) c.5876C>A (p.Ala1959Asp) | |
| 6 | g.7584935C>G | CA362693527 | DSP | c.6344C>G (p.Ala2115Gly) c.7673C>G (p.Ala2558Gly) c.5876C>G (p.Ala1959Gly) | |
| 6 | g.7584935C>T | CA362693528 | DSP | c.6344C>T (p.Ala2115Val) c.7673C>T (p.Ala2558Val) c.5876C>T (p.Ala1959Val) | |
| 6 | g.7584936T>A | CA448717031 | DSP | c.6345T>A (p.Ala2115=) c.7674T>A (p.Ala2558=) c.5877T>A (p.Ala1959=) | COSMIC |
| 6 | g.7584936T>C | CA448717032 | DSP | c.6345T>C (p.Ala2115=) c.7674T>C (p.Ala2558=) c.5877T>C (p.Ala1959=) | |
| 6 | g.7584936T>G | CA448717034 | DSP | c.6345T>G (p.Ala2115=) c.7674T>G (p.Ala2558=) c.5877T>G (p.Ala1959=) | |
| 6 | g.7584937G>A | CA362693531 | DSP | c.6346G>A (p.Asp2116Asn) c.7675G>A (p.Asp2559Asn) c.5878G>A (p.Asp1960Asn) | ClinVar dbSNP |
| 6 | g.7584937G>C | CA362693529 | DSP | c.6346G>C (p.Asp2116His) c.7675G>C (p.Asp2559His) c.5878G>C (p.Asp1960His) | |
| 6 | g.7584937G>T | CA362693530 | DSP | c.6346G>T (p.Asp2116Tyr) c.7675G>T (p.Asp2559Tyr) c.5878G>T (p.Asp1960Tyr) | |
| 6 | g.7584938A>C | CA362693532 | DSP | c.6347A>C (p.Asp2116Ala) c.7676A>C (p.Asp2559Ala) c.5879A>C (p.Asp1960Ala) | |
| 6 | g.7584938A>G | CA362693533 | DSP | c.6347A>G (p.Asp2116Gly) c.7676A>G (p.Asp2559Gly) c.5879A>G (p.Asp1960Gly) | |
| 6 | g.7584938A>T | CA362693534 | DSP | c.6347A>T (p.Asp2116Val) c.7676A>T (p.Asp2559Val) c.5879A>T (p.Asp1960Val) | |
| 6 | g.7584939C>A | CA362693535 | DSP | c.6348C>A (p.Asp2116Glu) c.7677C>A (p.Asp2559Glu) c.5880C>A (p.Asp1960Glu) | |
| 6 | g.7584939C>G | CA362693536 | DSP | c.6348C>G (p.Asp2116Glu) c.7677C>G (p.Asp2559Glu) c.5880C>G (p.Asp1960Glu) | |
| 6 | g.7584939C>T | CA448717046 | DSP | c.6348C>T (p.Asp2116=) c.7677C>T (p.Asp2559=) c.5880C>T (p.Asp1960=) | gnomAD v4 |
| 6 | g.7584940A= | CA1608612732 | DSP | c.6349A= (p.Met2117=) c.7678A= (p.Met2560=) c.5881A= (p.Met1961=) | |
| 6 | g.7584940A>C | CA362693538 | DSP | c.6349A>C (p.Met2117Leu) c.7678A>C (p.Met2560Leu) c.5881A>C (p.Met1961Leu) | gnomAD v4 |
| 6 | g.7584940A>G | CA050425 | DSP | c.6349A>G (p.Met2117Val) c.7678A>G (p.Met2560Val) c.5881A>G (p.Met1961Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584940A>T | CA362693537 | DSP | c.6349A>T (p.Met2117Leu) c.7678A>T (p.Met2560Leu) c.5881A>T (p.Met1961Leu) | |
| 6 | g.7584941T>A | CA362693539 | DSP | c.6350T>A (p.Met2117Lys) c.7679T>A (p.Met2560Lys) c.5882T>A (p.Met1961Lys) | |
| 6 | g.7584941T>C | CA050441 | DSP | c.6350T>C (p.Met2117Thr) c.7679T>C (p.Met2560Thr) c.5882T>C (p.Met1961Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584941T>G | CA362693540 | DSP | c.6350T>G (p.Met2117Arg) c.7679T>G (p.Met2560Arg) c.5882T>G (p.Met1961Arg) | |
| 6 | g.7584941T= | CA1608612734 | DSP | c.6350T= (p.Met2117=) c.7679T= (p.Met2560=) c.5882T= (p.Met1961=) | |
| 6 | g.7584942G>A | CA362693541 | DSP | c.6351G>A (p.Met2117Ile) c.7680G>A (p.Met2560Ile) c.5883G>A (p.Met1961Ile) | |
| 6 | g.7584942G>C | CA362693542 | DSP | c.6351G>C (p.Met2117Ile) c.7680G>C (p.Met2560Ile) c.5883G>C (p.Met1961Ile) | |
| 6 | g.7584942G>T | CA362693543 | DSP | c.6351G>T (p.Met2117Ile) c.7680G>T (p.Met2560Ile) c.5883G>T (p.Met1961Ile) | |
| 6 | g.7584943A>C | CA362693546 | DSP | c.6352A>C (p.Ile2118Leu) c.7681A>C (p.Ile2561Leu) c.5884A>C (p.Ile1962Leu) | |
| 6 | g.7584943A>G | CA362693544 | DSP | c.6352A>G (p.Ile2118Val) c.7681A>G (p.Ile2561Val) c.5884A>G (p.Ile1962Val) | |
| 6 | g.7584943A>T | CA362693545 | DSP | c.6352A>T (p.Ile2118Phe) c.7681A>T (p.Ile2561Phe) c.5884A>T (p.Ile1962Phe) | |
| 6 | g.7584944T>A | CA362693547 | DSP | c.6353T>A (p.Ile2118Asn) c.7682T>A (p.Ile2561Asn) c.5885T>A (p.Ile1962Asn) | dbSNP |
| 6 | g.7584944T>C | CA362693548 | DSP | c.6353T>C (p.Ile2118Thr) c.7682T>C (p.Ile2561Thr) c.5885T>C (p.Ile1962Thr) | |
| 6 | g.7584944T>G | CA362693549 | DSP | c.6353T>G (p.Ile2118Ser) c.7682T>G (p.Ile2561Ser) c.5885T>G (p.Ile1962Ser) | |
| 6 | g.7584944T= | CA1608612738 | DSP | c.6353T= (p.Ile2118=) c.7682T= (p.Ile2561=) c.5885T= (p.Ile1962=) | |
| 6 | g.7584944_7584947delinsTCTC | CA1608612740 | DSP | c.6353_6356delinsTCTC (p.Ile2118=) c.7682_7685delinsTCTC (p.Ile2561=) c.5885_5888delinsTCTC (p.Ile1962=) | |
| 6 | g.7584945C>A | CA448717057 | DSP | c.6354C>A (p.Ile2118=) c.7683C>A (p.Ile2561=) c.5886C>A (p.Ile1962=) | |
| 6 | g.7584945C>G | CA362693550 | DSP | c.6354C>G (p.Ile2118Met) c.7683C>G (p.Ile2561Met) c.5886C>G (p.Ile1962Met) | |
| 6 | g.7584945C>T | CA448717059 | DSP | c.6354C>T (p.Ile2118=) c.7683C>T (p.Ile2561=) c.5886C>T (p.Ile1962=) | |
| 6 | g.7584947_7584949del | CA050453 | DSP | c.6356_6358del (p.Ser2119del) c.7685_7687del (p.Ser2562del) c.5888_5890del (p.Ser1963del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584946T>A | CA362693551 | DSP | c.6355T>A (p.Ser2119Thr) c.7684T>A (p.Ser2562Thr) c.5887T>A (p.Ser1963Thr) | |
| 6 | g.7584946T>C | CA362693552 | DSP | c.6355T>C (p.Ser2119Pro) c.7684T>C (p.Ser2562Pro) c.5887T>C (p.Ser1963Pro) | ClinVar gnomAD v4 |
| 6 | g.7584946T>G | CA362693553 | DSP | c.6355T>G (p.Ser2119Ala) c.7684T>G (p.Ser2562Ala) c.5887T>G (p.Ser1963Ala) | ClinVar |
| 6 | g.7584947C>A | CA362693554 | DSP | c.6356C>A (p.Ser2119Tyr) c.7685C>A (p.Ser2562Tyr) c.5888C>A (p.Ser1963Tyr) | |
| 6 | g.7584947C>G | CA362693555 | DSP | c.6356C>G (p.Ser2119Cys) c.7685C>G (p.Ser2562Cys) c.5888C>G (p.Ser1963Cys) | |
| 6 | g.7584947C>T | CA362693556 | DSP | c.6356C>T (p.Ser2119Phe) c.7685C>T (p.Ser2562Phe) c.5888C>T (p.Ser1963Phe) | |
| 6 | g.7584948C>A | CA448717066 | DSP | c.6357C>A (p.Ser2119=) c.7686C>A (p.Ser2562=) c.5889C>A (p.Ser1963=) | |
| 6 | g.7584948C>G | CA448717069 | DSP | c.6357C>G (p.Ser2119=) c.7686C>G (p.Ser2562=) c.5889C>G (p.Ser1963=) | |
| 6 | g.7584948C>T | CA448717070 | DSP | c.6357C>T (p.Ser2119=) c.7686C>T (p.Ser2562=) c.5889C>T (p.Ser1963=) | gnomAD v4 |
| 6 | g.7584949T>A | CA362693557 | DSP | c.6358T>A (p.Leu2120Met) c.7687T>A (p.Leu2563Met) c.5890T>A (p.Leu1964Met) | |
| 6 | g.7584949T>C | CA448717073 | DSP | c.6358T>C (p.Leu2120=) c.7687T>C (p.Leu2563=) c.5890T>C (p.Leu1964=) | |
| 6 | g.7584949T>G | CA362693558 | DSP | c.6358T>G (p.Leu2120Val) c.7687T>G (p.Leu2563Val) c.5890T>G (p.Leu1964Val) | |
| 6 | g.7584950T>A | CA362693559 | DSP | c.6359T>A (p.Leu2120Ter) c.7688T>A (p.Leu2563Ter) c.5891T>A (p.Leu1964Ter) | |
| 6 | g.7584950T>C | CA362693561 | DSP | c.6359T>C (p.Leu2120Ser) c.7688T>C (p.Leu2563Ser) c.5891T>C (p.Leu1964Ser) | |
| 6 | g.7584950T>G | CA362693560 | DSP | c.6359T>G (p.Leu2120Trp) c.7688T>G (p.Leu2563Trp) c.5891T>G (p.Leu1964Trp) | |
| 6 | g.7584950T= | CA1608612751 | DSP | c.6359T= (p.Leu2120=) c.7688T= (p.Leu2563=) c.5891T= (p.Leu1964=) | |
| 6 | g.7584951G>A | CA448717074 | DSP | c.6360G>A (p.Leu2120=) c.7689G>A (p.Leu2563=) c.5892G>A (p.Leu1964=) | dbSNP |
| 6 | g.7584951G>C | CA362693562 | DSP | c.6360G>C (p.Leu2120Phe) c.7689G>C (p.Leu2563Phe) c.5892G>C (p.Leu1964Phe) | ClinVar |
| 6 | g.7584951G= | CA1608612756 | DSP | c.6360G= (p.Leu2120=) c.7689G= (p.Leu2563=) c.5892G= (p.Leu1964=) | |
| 6 | g.7584951G>T | CA362693563 | DSP | c.6360G>T (p.Leu2120Phe) c.7689G>T (p.Leu2563Phe) c.5892G>T (p.Leu1964Phe) | |
| 6 | g.7584951_7584956dup | CA16612051 | DSP | c.6360_6365dup (p.Lys2121_Asn2122insLysLys) c.7689_7694dup (p.Lys2564_Asn2565insLysLys) c.5892_5897dup (p.Lys1965_Asn1966insLysLys) | ClinVar dbSNP |
| 6 | g.7584952A>C | CA362693564 | DSP | c.6361A>C (p.Lys2121Gln) c.7690A>C (p.Lys2564Gln) c.5893A>C (p.Lys1965Gln) | |
| 6 | g.7584952A>G | CA362693565 | DSP | c.6361A>G (p.Lys2121Glu) c.7690A>G (p.Lys2564Glu) c.5893A>G (p.Lys1965Glu) | |
| 6 | g.7584952A>T | CA362693566 | DSP | c.6361A>T (p.Lys2121Ter) c.7690A>T (p.Lys2564Ter) c.5893A>T (p.Lys1965Ter) | |
| 6 | g.7584953A>C | CA362693567 | DSP | c.6362A>C (p.Lys2121Thr) c.7691A>C (p.Lys2564Thr) c.5894A>C (p.Lys1965Thr) | |
| 6 | g.7584953A>G | CA362693568 | DSP | c.6362A>G (p.Lys2121Arg) c.7691A>G (p.Lys2564Arg) c.5894A>G (p.Lys1965Arg) | |
| 6 | g.7584953A>T | CA362693569 | DSP | c.6362A>T (p.Lys2121Ile) c.7691A>T (p.Lys2564Ile) c.5894A>T (p.Lys1965Ile) | |
| 6 | g.7584954A= | CA1608612762 | DSP | c.6363A= (p.Lys2121=) c.7692A= (p.Lys2564=) c.5895A= (p.Lys1965=) | |
| 6 | g.7584954A>C | CA362693570 | DSP | c.6363A>C (p.Lys2121Asn) c.7692A>C (p.Lys2564Asn) c.5895A>C (p.Lys1965Asn) | dbSNP |
| 6 | g.7584954A>G | CA448717081 | DSP | c.6363A>G (p.Lys2121=) c.7692A>G (p.Lys2564=) c.5895A>G (p.Lys1965=) | |
| 6 | g.7584954A>T | CA362693571 | DSP | c.6363A>T (p.Lys2121Asn) c.7692A>T (p.Lys2564Asn) c.5895A>T (p.Lys1965Asn) | |
| 6 | g.7584955A= | CA1608612773 | DSP | c.6364A= (p.Asn2122=) c.7693A= (p.Asn2565=) c.5896A= (p.Asn1966=) | |
| 6 | g.7584955A>C | CA362693572 | DSP | c.6364A>C (p.Asn2122His) c.7693A>C (p.Asn2565His) c.5896A>C (p.Asn1966His) | |
| 6 | g.7584955A>G | CA362693573 | DSP | c.6364A>G (p.Asn2122Asp) c.7693A>G (p.Asn2565Asp) c.5896A>G (p.Asn1966Asp) | |
| 6 | g.7584955A>T | CA362693574 | DSP | c.6364A>T (p.Asn2122Tyr) c.7693A>T (p.Asn2565Tyr) c.5896A>T (p.Asn1966Tyr) | dbSNP |
| 6 | g.7584956A= | CA1608612782 | DSP | c.6365A= (p.Asn2122=) c.7694A= (p.Asn2565=) c.5897A= (p.Asn1966=) | |
| 6 | g.7584956A>C | CA050463 | DSP | c.6365A>C (p.Asn2122Thr) c.7694A>C (p.Asn2565Thr) c.5897A>C (p.Asn1966Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584956A>G | CA362693575 | DSP | c.6365A>G (p.Asn2122Ser) c.7694A>G (p.Asn2565Ser) c.5897A>G (p.Asn1966Ser) | |
| 6 | g.7584956A>T | CA362693576 | DSP | c.6365A>T (p.Asn2122Ile) c.7694A>T (p.Asn2565Ile) c.5897A>T (p.Asn1966Ile) | |
| 6 | g.7584957T>A | CA362693577 | DSP | c.6366T>A (p.Asn2122Lys) c.7695T>A (p.Asn2565Lys) c.5898T>A (p.Asn1966Lys) | |
| 6 | g.7584957T>C | CA448717086 | DSP | c.6366T>C (p.Asn2122=) c.7695T>C (p.Asn2565=) c.5898T>C (p.Asn1966=) | dbSNP |
| 6 | g.7584957T>G | CA362693578 | DSP | c.6366T>G (p.Asn2122Lys) c.7695T>G (p.Asn2565Lys) c.5898T>G (p.Asn1966Lys) | |
| 6 | g.7584957T= | CA1608612796 | DSP | c.6366T= (p.Asn2122=) c.7695T= (p.Asn2565=) c.5898T= (p.Asn1966=) |