| 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.7584825_7584829delinsTAGAA | CA1608612260 | DSP | c.6234_6238delinsTAGAA (p.Asp2078=) c.7563_7567delinsTAGAA (p.Asp2521=) c.5766_5770delinsTAGAA (p.Asp1922=) | |
| 6 | g.7584829_7584832del | CA658820675 | DSP | c.6238_6241del (p.Lys2080GlnfsTer?) c.7567_7570del (p.Lys2523GlnfsTer?) c.5770_5773del (p.Lys1924GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584828_7584829delinsC | CA658820677 | DSP | c.6237_6238delinsC (p.Arg2079SerfsTer?) c.7566_7567delinsC (p.Arg2522SerfsTer?) c.5769_5770delinsC (p.Arg1923SerfsTer?) | |
| 6 | g.7584829A= | CA1608612289 | DSP | c.6238A= (p.Lys2080=) c.7567A= (p.Lys2523=) c.5770A= (p.Lys1924=) | |
| 6 | g.7584829A>C | CA362693294 | DSP | c.6238A>C (p.Lys2080Gln) c.7567A>C (p.Lys2523Gln) c.5770A>C (p.Lys1924Gln) | |
| 6 | g.7584829A>G | CA362693296 | DSP | c.6238A>G (p.Lys2080Glu) c.7567A>G (p.Lys2523Glu) c.5770A>G (p.Lys1924Glu) | |
| 6 | g.7584829A>T | CA362693295 | DSP | c.6238A>T (p.Lys2080Ter) c.7567A>T (p.Lys2523Ter) c.5770A>T (p.Lys1924Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584829_7584833delinsAAGAC | CA1608612287 | DSP | c.6238_6242delinsAAGAC (p.Lys2080=) c.7567_7571delinsAAGAC (p.Lys2523=) c.5770_5774delinsAAGAC (p.Lys1924=) | |
| 6 | g.7584830A= | CA1608612299 | DSP | c.6239A= (p.Lys2080=) c.7568A= (p.Lys2523=) c.5771A= (p.Lys1924=) | |
| 6 | g.7584830A>C | CA362693297 | DSP | c.6239A>C (p.Lys2080Thr) c.7568A>C (p.Lys2523Thr) c.5771A>C (p.Lys1924Thr) | |
| 6 | g.7584830A>G | CA133976147 | DSP | c.6239A>G (p.Lys2080Arg) c.7568A>G (p.Lys2523Arg) c.5771A>G (p.Lys1924Arg) | dbSNP |
| 6 | g.7584830A>T | CA362693298 | DSP | c.6239A>T (p.Lys2080Met) c.7568A>T (p.Lys2523Met) c.5771A>T (p.Lys1924Met) | |
| 6 | g.7584832_7584835del | CA658821530 | DSP | c.6241_6244del (p.Thr2081AlafsTer?) c.7570_7573del (p.Thr2524AlafsTer?) c.5773_5776del (p.Thr1925AlafsTer?) | ClinVar dbSNP |
| 6 | g.7584831G>A | CA448716514 | DSP | c.6240G>A (p.Lys2080=) c.7569G>A (p.Lys2523=) c.5772G>A (p.Lys1924=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584831G>C | CA362693299 | DSP | c.6240G>C (p.Lys2080Asn) c.7569G>C (p.Lys2523Asn) c.5772G>C (p.Lys1924Asn) | |
| 6 | g.7584831G= | CA1608612304 | DSP | c.6240G= (p.Lys2080=) c.7569G= (p.Lys2523=) c.5772G= (p.Lys1924=) | |
| 6 | g.7584831G>T | CA362693300 | DSP | c.6240G>T (p.Lys2080Asn) c.7569G>T (p.Lys2523Asn) c.5772G>T (p.Lys1924Asn) | |
| 6 | g.7584832A>C | CA362693301 | DSP | c.6241A>C (p.Thr2081Pro) c.7570A>C (p.Thr2524Pro) c.5773A>C (p.Thr1925Pro) | |
| 6 | g.7584832A>G | CA362693302 | DSP | c.6241A>G (p.Thr2081Ala) c.7570A>G (p.Thr2524Ala) c.5773A>G (p.Thr1925Ala) | |
| 6 | g.7584832A>T | CA362693303 | DSP | c.6241A>T (p.Thr2081Ser) c.7570A>T (p.Thr2524Ser) c.5773A>T (p.Thr1925Ser) | |
| 6 | g.7584833C>A | CA362693304 | DSP | c.6242C>A (p.Thr2081Lys) c.7571C>A (p.Thr2524Lys) c.5774C>A (p.Thr1925Lys) | gnomAD v4 |
| 6 | g.7584833C>G | CA362693305 | DSP | c.6242C>G (p.Thr2081Arg) c.7571C>G (p.Thr2524Arg) c.5774C>G (p.Thr1925Arg) | ClinVar gnomAD v4 |
| 6 | g.7584833C>T | CA362693306 | DSP | c.6242C>T (p.Thr2081Ile) c.7571C>T (p.Thr2524Ile) c.5774C>T (p.Thr1925Ile) | gnomAD v4 |
| 6 | g.7584834A>C | CA448716527 | DSP | c.6243A>C (p.Thr2081=) c.7572A>C (p.Thr2524=) c.5775A>C (p.Thr1925=) | gnomAD v4 |
| 6 | g.7584834A>G | CA448716528 | DSP | c.6243A>G (p.Thr2081=) c.7572A>G (p.Thr2524=) c.5775A>G (p.Thr1925=) | |
| 6 | g.7584834A>T | CA448716531 | DSP | c.6243A>T (p.Thr2081=) c.7572A>T (p.Thr2524=) c.5775A>T (p.Thr1925=) | |
| 6 | g.7584835G>A | CA362693307 | DSP | c.6244G>A (p.Gly2082Ser) c.7573G>A (p.Gly2525Ser) c.5776G>A (p.Gly1926Ser) | |
| 6 | g.7584835G>C | CA362693309 | DSP | c.6244G>C (p.Gly2082Arg) c.7573G>C (p.Gly2525Arg) c.5776G>C (p.Gly1926Arg) | |
| 6 | g.7584835G>T | CA362693308 | DSP | c.6244G>T (p.Gly2082Cys) c.7573G>T (p.Gly2525Cys) c.5776G>T (p.Gly1926Cys) | |
| 6 | g.7584836G>A | CA133976150 | DSP | c.6245G>A (p.Gly2082Asp) c.7574G>A (p.Gly2525Asp) c.5777G>A (p.Gly1926Asp) | dbSNP |
| 6 | g.7584836G>C | CA362693311 | DSP | c.6245G>C (p.Gly2082Ala) c.7574G>C (p.Gly2525Ala) c.5777G>C (p.Gly1926Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584836G= | CA1608612311 | DSP | c.6245G= (p.Gly2082=) c.7574G= (p.Gly2525=) c.5777G= (p.Gly1926=) | |
| 6 | g.7584836G>T | CA362693310 | DSP | c.6245G>T (p.Gly2082Val) c.7574G>T (p.Gly2525Val) c.5777G>T (p.Gly1926Val) | gnomAD v4 |
| 6 | g.7584837C>A | CA448716544 | DSP | c.6246C>A (p.Gly2082=) c.7575C>A (p.Gly2525=) c.5778C>A (p.Gly1926=) | |
| 6 | g.7584837C= | CA1608612315 | DSP | c.6246C= (p.Gly2082=) c.7575C= (p.Gly2525=) c.5778C= (p.Gly1926=) | |
| 6 | g.7584837C>G | CA448716550 | DSP | c.6246C>G (p.Gly2082=) c.7575C>G (p.Gly2525=) c.5778C>G (p.Gly1926=) | |
| 6 | g.7584837C>T | CA007234 | DSP | c.6246C>T (p.Gly2082=) c.7575C>T (p.Gly2525=) c.5778C>T (p.Gly1926=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584838A>C | CA362693312 | DSP | c.6247A>C (p.Ser2083Arg) c.7576A>C (p.Ser2526Arg) c.5779A>C (p.Ser1927Arg) | |
| 6 | g.7584838A>G | CA362693313 | DSP | c.6247A>G (p.Ser2083Gly) c.7576A>G (p.Ser2526Gly) c.5779A>G (p.Ser1927Gly) | |
| 6 | g.7584838A>T | CA362693314 | DSP | c.6247A>T (p.Ser2083Cys) c.7576A>T (p.Ser2526Cys) c.5779A>T (p.Ser1927Cys) | |
| 6 | g.7584839G>A | CA362693315 | DSP | c.6248G>A (p.Ser2083Asn) c.7577G>A (p.Ser2526Asn) c.5780G>A (p.Ser1927Asn) | |
| 6 | g.7584839G>C | CA362693316 | DSP | c.6248G>C (p.Ser2083Thr) c.7577G>C (p.Ser2526Thr) c.5780G>C (p.Ser1927Thr) | |
| 6 | g.7584839G>T | CA362693317 | DSP | c.6248G>T (p.Ser2083Ile) c.7577G>T (p.Ser2526Ile) c.5780G>T (p.Ser1927Ile) | |
| 6 | g.7584840T>A | CA362693318 | DSP | c.6249T>A (p.Ser2083Arg) c.7578T>A (p.Ser2526Arg) c.5781T>A (p.Ser1927Arg) | |
| 6 | g.7584840T>C | CA448716557 | DSP | c.6249T>C (p.Ser2083=) c.7578T>C (p.Ser2526=) c.5781T>C (p.Ser1927=) | ClinVar dbSNP |
| 6 | g.7584840T>G | CA133976164 | DSP | c.6249T>G (p.Ser2083Arg) c.7578T>G (p.Ser2526Arg) c.5781T>G (p.Ser1927Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584840T= | CA1608612324 | DSP | c.6249T= (p.Ser2083=) c.7578T= (p.Ser2526=) c.5781T= (p.Ser1927=) | |
| 6 | g.7584841C>A | CA362693319 | DSP | c.6250C>A (p.Gln2084Lys) c.7579C>A (p.Gln2527Lys) c.5782C>A (p.Gln1928Lys) | |
| 6 | g.7584841C>G | CA362693320 | DSP | c.6250C>G (p.Gln2084Glu) c.7579C>G (p.Gln2527Glu) c.5782C>G (p.Gln1928Glu) | ClinVar dbSNP |
| 6 | g.7584841C>T | CA362693321 | DSP | c.6250C>T (p.Gln2084Ter) c.7579C>T (p.Gln2527Ter) c.5782C>T (p.Gln1928Ter) | |
| 6 | g.7584842A>C | CA362693324 | DSP | c.6251A>C (p.Gln2084Pro) c.7580A>C (p.Gln2527Pro) c.5783A>C (p.Gln1928Pro) | |
| 6 | g.7584842A>G | CA362693322 | DSP | c.6251A>G (p.Gln2084Arg) c.7580A>G (p.Gln2527Arg) c.5783A>G (p.Gln1928Arg) | |
| 6 | g.7584842A>T | CA362693323 | DSP | c.6251A>T (p.Gln2084Leu) c.7580A>T (p.Gln2527Leu) c.5783A>T (p.Gln1928Leu) | |
| 6 | g.7584843G>A | CA10584682 | DSP | c.6252G>A (p.Gln2084=) c.7581G>A (p.Gln2527=) c.5784G>A (p.Gln1928=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584843G>C | CA362693325 | DSP | c.6252G>C (p.Gln2084His) c.7581G>C (p.Gln2527His) c.5784G>C (p.Gln1928His) | |
| 6 | g.7584843G= | CA1608612334 | DSP | c.6252G= (p.Gln2084=) c.7581G= (p.Gln2527=) c.5784G= (p.Gln1928=) | |
| 6 | g.7584843G>T | CA362693326 | DSP | c.6252G>T (p.Gln2084His) c.7581G>T (p.Gln2527His) c.5784G>T (p.Gln1928His) | |
| 6 | g.7584844T>A | CA362693327 | DSP | c.6253T>A (p.Tyr2085Asn) c.7582T>A (p.Tyr2528Asn) c.5785T>A (p.Tyr1929Asn) | |
| 6 | g.7584844T>C | CA362693328 | DSP | c.6253T>C (p.Tyr2085His) c.7582T>C (p.Tyr2528His) c.5785T>C (p.Tyr1929His) | gnomAD v4 |
| 6 | g.7584844T>G | CA362693329 | DSP | c.6253T>G (p.Tyr2085Asp) c.7582T>G (p.Tyr2528Asp) c.5785T>G (p.Tyr1929Asp) | ClinVar dbSNP |
| 6 | g.7584845A= | CA1608612339 | DSP | c.6254A= (p.Tyr2085=) c.7583A= (p.Tyr2528=) c.5786A= (p.Tyr1929=) | |
| 6 | g.7584845A>C | CA362693330 | DSP | c.6254A>C (p.Tyr2085Ser) c.7583A>C (p.Tyr2528Ser) c.5786A>C (p.Tyr1929Ser) | |
| 6 | g.7584845A>G | CA050178 | DSP | c.6254A>G (p.Tyr2085Cys) c.7583A>G (p.Tyr2528Cys) c.5786A>G (p.Tyr1929Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584845A>T | CA362693331 | DSP | c.6254A>T (p.Tyr2085Phe) c.7583A>T (p.Tyr2528Phe) c.5786A>T (p.Tyr1929Phe) | |
| 6 | g.7584847_7584849del | CA2677220213 | DSP | c.6256_6258del (p.Asp2086del) c.7585_7587del (p.Asp2529del) c.5788_5790del (p.Asp1930del) | gnomAD v4 |
| 6 | g.7584846T>A | CA362693332 | DSP | c.6255T>A (p.Tyr2085Ter) c.7584T>A (p.Tyr2528Ter) c.5787T>A (p.Tyr1929Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584846T>C | CA448716771 | DSP | c.6255T>C (p.Tyr2085=) c.7584T>C (p.Tyr2528=) c.5787T>C (p.Tyr1929=) | |
| 6 | g.7584846T>G | CA362693333 | DSP | c.6255T>G (p.Tyr2085Ter) c.7584T>G (p.Tyr2528Ter) c.5787T>G (p.Tyr1929Ter) | dbSNP |
| 6 | g.7584846T= | CA1608612343 | DSP | c.6255T= (p.Tyr2085=) c.7584T= (p.Tyr2528=) c.5787T= (p.Tyr1929=) | |
| 6 | g.7584846dup | CA2677220223 | DSP | c.6255dup (p.Asp2086Ter) c.7584dup (p.Asp2529Ter) c.5787dup (p.Asp1930Ter) | gnomAD v4 |
| 6 | g.7584847G>A | CA362693336 | DSP | c.6256G>A (p.Asp2086Asn) c.7585G>A (p.Asp2529Asn) c.5788G>A (p.Asp1930Asn) | ClinVar dbSNP |
| 6 | g.7584847G>C | CA362693335 | DSP | c.6256G>C (p.Asp2086His) c.7585G>C (p.Asp2529His) c.5788G>C (p.Asp1930His) | gnomAD v4 |
| 6 | g.7584847G= | CA1608612348 | DSP | c.6256G= (p.Asp2086=) c.7585G= (p.Asp2529=) c.5788G= (p.Asp1930=) | |
| 6 | g.7584847G>T | CA362693334 | DSP | c.6256G>T (p.Asp2086Tyr) c.7585G>T (p.Asp2529Tyr) c.5788G>T (p.Asp1930Tyr) | dbSNP |
| 6 | g.7584848A>C | CA362693337 | DSP | c.6257A>C (p.Asp2086Ala) c.7586A>C (p.Asp2529Ala) c.5789A>C (p.Asp1930Ala) | |
| 6 | g.7584848A>G | CA362693338 | DSP | c.6257A>G (p.Asp2086Gly) c.7586A>G (p.Asp2529Gly) c.5789A>G (p.Asp1930Gly) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584848A>T | CA362693339 | DSP | c.6257A>T (p.Asp2086Val) c.7586A>T (p.Asp2529Val) c.5789A>T (p.Asp1930Val) | |
| 6 | g.7584849T>A | CA362693340 | DSP | c.6258T>A (p.Asp2086Glu) c.7587T>A (p.Asp2529Glu) c.5790T>A (p.Asp1930Glu) | |
| 6 | g.7584849T>C | CA448716779 | DSP | c.6258T>C (p.Asp2086=) c.7587T>C (p.Asp2529=) c.5790T>C (p.Asp1930=) | |
| 6 | g.7584849T>G | CA362693341 | DSP | c.6258T>G (p.Asp2086Glu) c.7587T>G (p.Asp2529Glu) c.5790T>G (p.Asp1930Glu) | |
| 6 | g.7584850A= | CA1608612353 | DSP | c.6259A= (p.Ile2087=) c.7588A= (p.Ile2530=) c.5791A= (p.Ile1931=) | |
| 6 | g.7584850A>C | CA362693342 | DSP | c.6259A>C (p.Ile2087Leu) c.7588A>C (p.Ile2530Leu) c.5791A>C (p.Ile1931Leu) | |
| 6 | g.7584850A>G | CA362693343 | DSP | c.6259A>G (p.Ile2087Val) c.7588A>G (p.Ile2530Val) c.5791A>G (p.Ile1931Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584850A>T | CA007241 | DSP | c.6259A>T (p.Ile2087Phe) c.7588A>T (p.Ile2530Phe) c.5791A>T (p.Ile1931Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584851T>A | CA133976217 | DSP | c.6260T>A (p.Ile2087Asn) c.7589T>A (p.Ile2530Asn) c.5792T>A (p.Ile1931Asn) | ClinVar dbSNP |
| 6 | g.7584851T>C | CA050189 | DSP | c.6260T>C (p.Ile2087Thr) c.7589T>C (p.Ile2530Thr) c.5792T>C (p.Ile1931Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584851T>G | CA362693344 | DSP | c.6260T>G (p.Ile2087Ser) c.7589T>G (p.Ile2530Ser) c.5792T>G (p.Ile1931Ser) | gnomAD v4 |
| 6 | g.7584851T= | CA1608612363 | DSP | c.6260T= (p.Ile2087=) c.7589T= (p.Ile2530=) c.5792T= (p.Ile1931=) | |
| 6 | g.7584852T>A | CA448716787 | DSP | c.6261T>A (p.Ile2087=) c.7590T>A (p.Ile2530=) c.5793T>A (p.Ile1931=) | |
| 6 | g.7584852T>C | CA050204 | DSP | c.6261T>C (p.Ile2087=) c.7590T>C (p.Ile2530=) c.5793T>C (p.Ile1931=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584852T>G | CA362693345 | DSP | c.6261T>G (p.Ile2087Met) c.7590T>G (p.Ile2530Met) c.5793T>G (p.Ile1931Met) | |
| 6 | g.7584852T= | CA1608612374 | DSP | c.6261T= (p.Ile2087=) c.7590T= (p.Ile2530=) c.5793T= (p.Ile1931=) | |
| 6 | g.7584853C>A | CA362693348 | DSP | c.6262C>A (p.Gln2088Lys) c.7591C>A (p.Gln2531Lys) c.5794C>A (p.Gln1932Lys) | |
| 6 | g.7584853C>G | CA362693346 | DSP | c.6262C>G (p.Gln2088Glu) c.7591C>G (p.Gln2531Glu) c.5794C>G (p.Gln1932Glu) | gnomAD v4 |
| 6 | g.7584853C>T | CA362693347 | DSP | c.6262C>T (p.Gln2088Ter) c.7591C>T (p.Gln2531Ter) c.5794C>T (p.Gln1932Ter) | |
| 6 | g.7584854A= | CA1608612377 | DSP | c.6263A= (p.Gln2088=) c.7592A= (p.Gln2531=) c.5795A= (p.Gln1932=) | |
| 6 | g.7584854A>C | CA050216 | DSP | c.6263A>C (p.Gln2088Pro) c.7592A>C (p.Gln2531Pro) c.5795A>C (p.Gln1932Pro) | ClinVar dbSNP ExAC gnomAD v2 |
| 6 | g.7584854A>G | CA362693349 | DSP | c.6263A>G (p.Gln2088Arg) c.7592A>G (p.Gln2531Arg) c.5795A>G (p.Gln1932Arg) | gnomAD v4 |
| 6 | g.7584854A>T | CA362693350 | DSP | c.6263A>T (p.Gln2088Leu) c.7592A>T (p.Gln2531Leu) c.5795A>T (p.Gln1932Leu) | |
| 6 | g.7584855A= | CA1608612385 | DSP | c.6264A= (p.Gln2088=) c.7593A= (p.Gln2531=) c.5796A= (p.Gln1932=) | |
| 6 | g.7584855A>C | CA362693351 | DSP | c.6264A>C (p.Gln2088His) c.7593A>C (p.Gln2531His) c.5796A>C (p.Gln1932His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584855A>G | CA448716796 | DSP | c.6264A>G (p.Gln2088=) c.7593A>G (p.Gln2531=) c.5796A>G (p.Gln1932=) | |
| 6 | g.7584855A>T | CA362693352 | DSP | c.6264A>T (p.Gln2088His) c.7593A>T (p.Gln2531His) c.5796A>T (p.Gln1932His) | |
| 6 | g.7584856G>A | CA362693353 | DSP | c.6265G>A (p.Asp2089Asn) c.7594G>A (p.Asp2532Asn) c.5797G>A (p.Asp1933Asn) | |
| 6 | g.7584856G>C | CA362693354 | DSP | c.6265G>C (p.Asp2089His) c.7594G>C (p.Asp2532His) c.5797G>C (p.Asp1933His) | |
| 6 | g.7584856G>T | CA362693355 | DSP | c.6265G>T (p.Asp2089Tyr) c.7594G>T (p.Asp2532Tyr) c.5797G>T (p.Asp1933Tyr) | |
| 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 |