Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.144186565T>A | CA2680618318 | STX11 | c.-5-58T>A (n.-5-58T>A) c.74-58T>A (n.74-58T>A) | gnomAD v4 |
6 | g.144186565T>C | CA1095330513 | STX11 | c.-5-58T>C (n.-5-58T>C) c.74-58T>C (n.74-58T>C) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186565T>G | CA2680618319 | STX11 | c.-5-58T>G (n.-5-58T>G) c.74-58T>G (n.74-58T>G) | gnomAD v4 |
6 | g.144186565T= | CA1669582388 | STX11 | c.-5-58T= (n.-5-58T=) c.74-58T= (n.74-58T=) | |
6 | g.144186566G>A | CA2680618320 | STX11 | c.-5-57G>A (n.-5-57G>A) c.74-57G>A (n.74-57G>A) | gnomAD v4 |
6 | g.144186567A= | CA1669582389 | STX11 | c.-5-56A= (n.-5-56A=) c.74-56A= (n.74-56A=) | |
6 | g.144186567A>C | CA2680618321 | STX11 | c.-5-56A>C (n.-5-56A>C) c.74-56A>C (n.74-56A>C) | gnomAD v4 |
6 | g.144186567A>G | CA1669582390 | STX11 | c.-5-56A>G (n.-5-56A>G) c.74-56A>G (n.74-56A>G) | dbSNP |
6 | g.144186569G>T | CA2773388366 | STX11 | c.-5-54G>T (n.-5-54G>T) c.74-54G>T (n.74-54G>T) | |
6 | g.144186570G>A | CA2680618322 | STX11 | c.-5-53G>A (n.-5-53G>A) c.74-53G>A (n.74-53G>A) | gnomAD v4 |
6 | g.144186572_144186577del | CA2680618323 | STX11 | c.-5-51_-5-46del (n.-5-51_-5-46del) c.74-51_74-46del (n.74-51_74-46del) | gnomAD v4 |
6 | g.144186573A>G | CA2680618324 | STX11 | c.-5-50A>G (n.-5-50A>G) c.74-50A>G (n.74-50A>G) | gnomAD v4 |
6 | g.144186578T>C | CA1669582392 | STX11 | c.-5-45T>C (n.-5-45T>C) c.74-45T>C (n.74-45T>C) | dbSNP |
6 | g.144186578T>G | CA1095330514 | STX11 | c.-5-45T>G (n.-5-45T>G) c.74-45T>G (n.74-45T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186578T= | CA1669582391 | STX11 | c.-5-45T= (n.-5-45T=) c.74-45T= (n.74-45T=) | |
6 | g.144186580G>T | CA2680618325 | STX11 | c.-5-43G>T (n.-5-43G>T) c.74-43G>T (n.74-43G>T) | gnomAD v4 |
6 | g.144186581A= | CA1669582393 | STX11 | c.-5-42A= (n.-5-42A=) c.74-42A= (n.74-42A=) | |
6 | g.144186581A>G | CA4031581 | STX11 | c.-5-42A>G (n.-5-42A>G) c.74-42A>G (n.74-42A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186582C= | CA1669582394 | STX11 | c.-5-41C= (n.-5-41C=) c.74-41C= (n.74-41C=) | |
6 | g.144186582C>T | CA570979829 | STX11 | c.-5-41C>T (n.-5-41C>T) c.74-41C>T (n.74-41C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186584C>T | CA2578760248 | STX11 | c.-5-39C>T (n.-5-39C>T) c.74-39C>T (n.74-39C>T) | |
6 | g.144186586C>A | CA2680618326 | STX11 | c.-5-37C>A (n.-5-37C>A) c.74-37C>A (n.74-37C>A) | gnomAD v4 |
6 | g.144186586C= | CA1669582395 | STX11 | c.-5-37C= (n.-5-37C=) c.74-37C= (n.74-37C=) | |
6 | g.144186586C>T | CA4031582 | STX11 | c.-5-37C>T (n.-5-37C>T) c.74-37C>T (n.74-37C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186586_144186587insT | CA2680618327 | STX11 | c.-5-37_-5-36insT (n.-5-37_-5-36insT) c.74-37_74-36insT (n.74-37_74-36insT) | gnomAD v4 |
6 | g.144186586_144186587insTAT | CA2578760249 | STX11 | c.-5-37_-5-36insTAT (n.-5-37_-5-36insTAT) c.74-37_74-36insTAT (n.74-37_74-36insTAT) | |
6 | g.144186587A>C | CA2499690091 | STX11 | c.-5-36A>C (n.-5-36A>C) c.74-36A>C (n.74-36A>C) | |
6 | g.144186587A>G | CA2578760250 | STX11 | c.-5-36A>G (n.-5-36A>G) c.74-36A>G (n.74-36A>G) | |
6 | g.144186587A>T | CA2578760251 | STX11 | c.-5-36A>T (n.-5-36A>T) c.74-36A>T (n.74-36A>T) | |
6 | g.144186587_144186588insTT | CA2680618328 | STX11 | c.-5-36_-5-35insTT (n.-5-36_-5-35insTT) c.74-36_74-35insTT (n.74-36_74-35insTT) | gnomAD v4 |
6 | g.144186588A= | CA1669582396 | STX11 | c.-5-35A= (n.-5-35A=) c.74-35A= (n.74-35A=) | |
6 | g.144186588A>C | CA2535072166 | STX11 | c.-5-35A>C (n.-5-35A>C) c.74-35A>C (n.74-35A>C) | gnomAD v4 |
6 | g.144186588A>G | CA4031583 | STX11 | c.-5-35A>G (n.-5-35A>G) c.74-35A>G (n.74-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186589T>C | CA2680618329 | STX11 | c.-5-34T>C (n.-5-34T>C) c.74-34T>C (n.74-34T>C) | gnomAD v4 |
6 | g.144186591G>A | CA570979830 | STX11 | c.-5-32G>A (n.-5-32G>A) c.74-32G>A (n.74-32G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186591G= | CA1669582397 | STX11 | c.-5-32G= (n.-5-32G=) c.74-32G= (n.74-32G=) | |
6 | g.144186592A= | CA1669582398 | STX11 | c.-5-31A= (n.-5-31A=) c.74-31A= (n.74-31A=) | |
6 | g.144186592A>C | CA2680618330 | STX11 | c.-5-31A>C (n.-5-31A>C) c.74-31A>C (n.74-31A>C) | gnomAD v4 |
6 | g.144186592A>G | CA4031584 | STX11 | c.-5-31A>G (n.-5-31A>G) c.74-31A>G (n.74-31A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186593G>A | CA4031585 | STX11 | c.-5-30G>A (n.-5-30G>A) c.74-30G>A (n.74-30G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186593G= | CA1669582399 | STX11 | c.-5-30G= (n.-5-30G=) c.74-30G= (n.74-30G=) | |
6 | g.144186594A= | CA1669582400 | STX11 | c.-5-29A= (n.-5-29A=) c.74-29A= (n.74-29A=) | |
6 | g.144186594A>G | CA820185419 | STX11 | c.-5-29A>G (n.-5-29A>G) c.74-29A>G (n.74-29A>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186596A= | CA1669582401 | STX11 | c.-5-27A= (n.-5-27A=) c.74-27A= (n.74-27A=) | |
6 | g.144186596A>G | CA1669582402 | STX11 | c.-5-27A>G (n.-5-27A>G) c.74-27A>G (n.74-27A>G) | dbSNP gnomAD v4 |
6 | g.144186599T>A | CA2680618331 | STX11 | c.-5-24T>A (n.-5-24T>A) c.74-24T>A (n.74-24T>A) | gnomAD v4 |
6 | g.144186600A= | CA1669582403 | STX11 | c.-5-23A= (n.-5-23A=) c.74-23A= (n.74-23A=) | |
6 | g.144186600A>C | CA149823909 | STX11 | c.-5-23A>C (n.-5-23A>C) c.74-23A>C (n.74-23A>C) | dbSNP |
6 | g.144186602C>T | CA2578760252 | STX11 | c.-5-21C>T (n.-5-21C>T) c.74-21C>T (n.74-21C>T) | |
6 | g.144186603T>C | CA2501342760 | STX11 | c.-5-20T>C (n.-5-20T>C) c.74-20T>C (n.74-20T>C) | |
6 | g.144186605_144186608del | CA2680618332 | STX11 | c.-5-18_-5-15del (n.-5-18_-5-15del) c.74-18_74-15del (n.74-18_74-15del) | gnomAD v4 |
6 | g.144186605C= | CA1669582404 | STX11 | c.-5-18C= (n.-5-18C=) c.74-18C= (n.74-18C=) | |
6 | g.144186605C>T | CA2680618333 | STX11 | c.-5-18C>T (n.-5-18C>T) c.74-18C>T (n.74-18C>T) | gnomAD v4 |
6 | g.144186606dup | CA820185420 | STX11 | c.-5-17dup (n.-5-17dup) c.74-17dup (n.74-17dup) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186607T>C | CA4031586 | STX11 | c.-5-16T>C (n.-5-16T>C) c.74-16T>C (n.74-16T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186607T>G | CA2544122102 | STX11 | c.-5-16T>G (n.-5-16T>G) c.74-16T>G (n.74-16T>G) | |
6 | g.144186607T= | CA1669582405 | STX11 | c.-5-16T= (n.-5-16T=) c.74-16T= (n.74-16T=) | |
6 | g.144186609A>C | CA2680618334 | STX11 | c.-5-14A>C (n.-5-14A>C) c.74-14A>C (n.74-14A>C) | gnomAD v4 |
6 | g.144186610T>A | CA149823910 | STX11 | c.-5-13T>A (n.-5-13T>A) c.74-13T>A (n.74-13T>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186610T>G | CA2578760253 | STX11 | c.-5-13T>G (n.-5-13T>G) c.74-13T>G (n.74-13T>G) | |
6 | g.144186610T= | CA1669582406 | STX11 | c.-5-13T= (n.-5-13T=) c.74-13T= (n.74-13T=) | |
6 | g.144186611C>T | CA2680618335 | STX11 | c.-5-12C>T (n.-5-12C>T) c.74-12C>T (n.74-12C>T) | gnomAD v4 |
6 | g.144186612T>C | CA2680618336 | STX11 | c.-5-11T>C (n.-5-11T>C) c.74-11T>C (n.74-11T>C) | gnomAD v4 |
6 | g.144186613C>A | CA2773388367 | STX11 | c.-5-10C>A (n.-5-10C>A) c.74-10C>A (n.74-10C>A) | |
6 | g.144186614T>C | CA149823911 | STX11 | c.-5-9T>C (n.-5-9T>C) c.74-9T>C (n.74-9T>C) | dbSNP gnomAD v4 |
6 | g.144186614T= | CA1669582407 | STX11 | c.-5-9T= (n.-5-9T=) c.74-9T= (n.74-9T=) | |
6 | g.144186615A= | CA1669582408 | STX11 | c.-5-8A= (n.-5-8A=) c.74-8A= (n.74-8A=) | |
6 | g.144186615A>G | CA570979831 | STX11 | c.-5-8A>G (n.-5-8A>G) c.74-8A>G (n.74-8A>G) | dbSNP gnomAD v2 |
6 | g.144186616C= | CA1669582409 | STX11 | c.-5-7C= (n.-5-7C=) c.74-7C= (n.74-7C=) | |
6 | g.144186616C>G | CA4031587 | STX11 | c.-5-7C>G (n.-5-7C>G) c.74-7C>G (n.74-7C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186616C>T | CA149823912 | STX11 | c.-5-7C>T (n.-5-7C>T) c.74-7C>T (n.74-7C>T) | dbSNP |
6 | g.144186617T>C | CA2680618337 | STX11 | c.-5-6T>C (n.-5-6T>C) c.74-6T>C (n.74-6T>C) | gnomAD v4 |
6 | g.144186620C>A | CA2536549439 | STX11 | c.-5-3C>A (n.-5-3C>A) c.74-3C>A (n.74-3C>A) | |
6 | g.144186620C= | CA1669582410 | STX11 | c.-5-3C= (n.-5-3C=) c.74-3C= (n.74-3C=) | |
6 | g.144186620C>G | CA1095330515 | STX11 | c.-5-3C>G (n.-5-3C>G) c.74-3C>G (n.74-3C>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186620C>T | CA2680618338 | STX11 | c.-5-3C>T (n.-5-3C>T) c.74-3C>T (n.74-3C>T) | gnomAD v4 |
6 | g.144186622G>A | CA1669582412 | STX11 | c.-5-1G>A (n.-5-1G>A) c.74-1G>A (n.74-1G>A) | dbSNP |
6 | g.144186622G= | CA1669582411 | STX11 | c.-5-1G= (n.-5-1G=) c.74-1G= (n.74-1G=) | |
6 | g.144186622G>T | CA2680618339 | STX11 | c.-5-1G>T (n.-5-1G>T) c.74-1G>T (n.74-1G>T) | gnomAD v4 |
6 | g.144186623G>A | CA2578760254 | STX11 | c.-5G>A (n.-5G>A) c.74G>A (p.Ser25Asn) | ClinVar dbSNP gnomAD v4 |
6 | g.144186623G= | CA1669582413 | STX11 | c.-5G= (n.-5G=) c.74G= (p.Ser25=) | |
6 | g.144186623G>T | CA4031588 | STX11 | c.-5G>T (n.-5G>T) c.74G>T (p.Ser25Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186624C= | CA1669582414 | STX11 | c.-4C= (n.-4C=) c.75C= (p.Ser25=) | |
6 | g.144186624C>T | CA820185427 | STX11 | c.-4C>T (n.-4C>T) c.75C>T (p.Ser25=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186625A= | CA1669582415 | STX11 | c.-3A= (n.-3A=) c.76A= (p.Lys26=) | |
6 | g.144186625A>C | CA4031590 | STX11 | c.-3A>C (n.-3A>C) c.76A>C (p.Lys26Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186625A>G | CA4031589 | STX11 | c.-3A>G (n.-3A>G) c.76A>G (p.Lys26Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186626A>C | CA2680618340 | STX11 | c.-2A>C (n.-2A>C) c.77A>C (p.Lys26Thr) | gnomAD v4 |
6 | g.144186628A>C | CA365948322 | STX11 | c.1A>C (p.Met1Leu) c.79A>C (p.Met27Leu) | |
6 | g.144186628A>G | CA365948323 | STX11 | c.1A>G (p.Met1Val) c.79A>G (p.Met27Val) | |
6 | g.144186628A>T | CA365948324 | STX11 | c.1A>T (p.Met1Leu) c.79A>T (p.Met27Leu) | |
6 | g.144186629T>A | CA365948325 | STX11 | c.2T>A (p.Met1Lys) c.80T>A (p.Met27Lys) | |
6 | g.144186629T>C | CA365948326 | STX11 | c.2T>C (p.Met1Thr) c.80T>C (p.Met27Thr) | |
6 | g.144186629T>G | CA365948327 | STX11 | c.2T>G (p.Met1Arg) c.80T>G (p.Met27Arg) | |
6 | g.144186630G>A | CA365948328 | STX11 | c.3G>A (p.Met1Ile) c.81G>A (p.Met27Ile) | |
6 | g.144186630G>C | CA365948329 | STX11 | c.3G>C (p.Met1Ile) c.81G>C (p.Met27Ile) | |
6 | g.144186630G>T | CA365948330 | STX11 | c.3G>T (p.Met1Ile) c.81G>T (p.Met27Ile) | |
6 | g.144186631A= | CA1669582416 | STX11 | c.4A= (p.Lys2=) c.82A= (p.Lys28=) | |
6 | g.144186631A>C | CA365948331 | STX11 | c.4A>C (p.Lys2Gln) c.82A>C (p.Lys28Gln) | |
6 | g.144186631A>G | CA365948332 | STX11 | c.4A>G (p.Lys2Glu) c.82A>G (p.Lys28Glu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186631A>T | CA365948333 | STX11 | c.4A>T (p.Lys2Ter) c.82A>T (p.Lys28Ter) | |
6 | g.144186632A>C | CA365948336 | STX11 | c.5A>C (p.Lys2Thr) c.83A>C (p.Lys28Thr) | |
6 | g.144186632A>G | CA365948335 | STX11 | c.5A>G (p.Lys2Arg) c.83A>G (p.Lys28Arg) | |
6 | g.144186632A>T | CA365948334 | STX11 | c.5A>T (p.Lys2Ile) c.83A>T (p.Lys28Ile) | |
6 | g.144186633A>C | CA365948337 | STX11 | c.6A>C (p.Lys2Asn) c.84A>C (p.Lys28Asn) | |
6 | g.144186633A>G | CA452707607 | STX11 | c.6A>G (p.Lys2=) c.84A>G (p.Lys28=) | |
6 | g.144186633A>T | CA365948338 | STX11 | c.6A>T (p.Lys2Asn) c.84A>T (p.Lys28Asn) | |
6 | g.144186634G>A | CA365948339 | STX11 | c.7G>A (p.Asp3Asn) c.85G>A (p.Asp29Asn) | gnomAD v4 |
6 | g.144186634G>C | CA365948340 | STX11 | c.7G>C (p.Asp3His) c.85G>C (p.Asp29His) | |
6 | g.144186634G>T | CA365948341 | STX11 | c.7G>T (p.Asp3Tyr) c.85G>T (p.Asp29Tyr) | |
6 | g.144186635A>C | CA365948342 | STX11 | c.8A>C (p.Asp3Ala) c.86A>C (p.Asp29Ala) | |
6 | g.144186635A>G | CA365948343 | STX11 | c.8A>G (p.Asp3Gly) c.86A>G (p.Asp29Gly) | gnomAD v4 |
6 | g.144186635A>T | CA365948344 | STX11 | c.8A>T (p.Asp3Val) c.86A>T (p.Asp29Val) | |
6 | g.144186636C>A | CA4031591 | STX11 | c.9C>A (p.Asp3Glu) c.87C>A (p.Asp29Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186636C= | CA1669582417 | STX11 | c.9C= (p.Asp3=) c.87C= (p.Asp29=) | |
6 | g.144186636C>G | CA365948345 | STX11 | c.9C>G (p.Asp3Glu) c.87C>G (p.Asp29Glu) | |
6 | g.144186636C>T | CA452707608 | STX11 | c.9C>T (p.Asp3=) c.87C>T (p.Asp29=) | dbSNP gnomAD v4 COSMIC |
6 | g.144186637C>A | CA452707610 | STX11 | c.10C>A (p.Arg4=) c.88C>A (p.Arg30=) | |
6 | g.144186637C= | CA1669582418 | STX11 | c.10C= (p.Arg4=) c.88C= (p.Arg30=) | |
6 | g.144186637C>G | CA365948346 | STX11 | c.10C>G (p.Arg4Gly) c.88C>G (p.Arg30Gly) | gnomAD v4 |
6 | g.144186637C>T | CA4031592 | STX11 | c.10C>T (p.Arg4Trp) c.88C>T (p.Arg30Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186638G>A | CA4031594 | STX11 | c.11G>A (p.Arg4Gln) c.89G>A (p.Arg30Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.144186638G>C | CA365948347 | STX11 | c.11G>C (p.Arg4Pro) c.89G>C (p.Arg30Pro) | gnomAD v4 |
6 | g.144186638G= | CA1669582419 | STX11 | c.11G= (p.Arg4=) c.89G= (p.Arg30=) | |
6 | g.144186638G>T | CA4031593 | STX11 | c.11G>T (p.Arg4Leu) c.89G>T (p.Arg30Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186639G>A | CA452707611 | STX11 | c.12G>A (p.Arg4=) c.90G>A (p.Arg30=) | |
6 | g.144186639G>C | CA452707612 | STX11 | c.12G>C (p.Arg4=) c.90G>C (p.Arg30=) | |
6 | g.144186639G= | CA1669582420 | STX11 | c.12G= (p.Arg4=) c.90G= (p.Arg30=) | |
6 | g.144186639G>T | CA149823913 | STX11 | c.12G>T (p.Arg4=) c.90G>T (p.Arg30=) | dbSNP gnomAD v4 |
6 | g.144186640C>A | CA365948348 | STX11 | c.13C>A (p.Leu5Ile) c.91C>A (p.Leu31Ile) | |
6 | g.144186640C= | CA1669582421 | STX11 | c.13C= (p.Leu5=) c.91C= (p.Leu31=) | |
6 | g.144186640C>G | CA365948349 | STX11 | c.13C>G (p.Leu5Val) c.91C>G (p.Leu31Val) | |
6 | g.144186640C>T | CA452707613 | STX11 | c.13C>T (p.Leu5=) c.91C>T (p.Leu31=) | ClinVar dbSNP |
6 | g.144186641T>A | CA365948350 | STX11 | c.14T>A (p.Leu5Gln) c.92T>A (p.Leu31Gln) | |
6 | g.144186641T>C | CA365948351 | STX11 | c.14T>C (p.Leu5Pro) c.92T>C (p.Leu31Pro) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186641T>G | CA365948352 | STX11 | c.14T>G (p.Leu5Arg) c.92T>G (p.Leu31Arg) | |
6 | g.144186641T= | CA1669582422 | STX11 | c.14T= (p.Leu5=) c.92T= (p.Leu31=) | |
6 | g.144186642A= | CA1669582423 | STX11 | c.15A= (p.Leu5=) c.93A= (p.Leu31=) | |
6 | g.144186642A>C | CA452707615 | STX11 | c.15A>C (p.Leu5=) c.93A>C (p.Leu31=) | |
6 | g.144186642A>G | CA149823914 | STX11 | c.15A>G (p.Leu5=) c.93A>G (p.Leu31=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186642A>T | CA452707614 | STX11 | c.15A>T (p.Leu5=) c.93A>T (p.Leu31=) | |
6 | g.144186643G>A | CA4031595 | STX11 | c.16G>A (p.Ala6Thr) c.94G>A (p.Ala32Thr) | dbSNP ExAC gnomAD v2 |
6 | g.144186643G>C | CA365948353 | STX11 | c.16G>C (p.Ala6Pro) c.94G>C (p.Ala32Pro) | |
6 | g.144186643G= | CA1669582424 | STX11 | c.16G= (p.Ala6=) c.94G= (p.Ala32=) | |
6 | g.144186643G>T | CA365948354 | STX11 | c.16G>T (p.Ala6Ser) c.94G>T (p.Ala32Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.144186644C>A | CA365948355 | STX11 | c.17C>A (p.Ala6Glu) c.95C>A (p.Ala32Glu) | |
6 | g.144186644C= | CA1669582425 | STX11 | c.17C= (p.Ala6=) c.95C= (p.Ala32=) | |
6 | g.144186644C>G | CA365948356 | STX11 | c.17C>G (p.Ala6Gly) c.95C>G (p.Ala32Gly) | |
6 | g.144186644C>T | CA365948357 | STX11 | c.17C>T (p.Ala6Val) c.95C>T (p.Ala32Val) | ClinVar dbSNP gnomAD v4 |
6 | g.144186645A>C | CA452707617 | STX11 | c.18A>C (p.Ala6=) c.96A>C (p.Ala32=) | |
6 | g.144186645A>G | CA452707618 | STX11 | c.18A>G (p.Ala6=) c.96A>G (p.Ala32=) | |
6 | g.144186645A>T | CA452707619 | STX11 | c.18A>T (p.Ala6=) c.96A>T (p.Ala32=) | |
6 | g.144186646G>A | CA365948359 | STX11 | c.19G>A (p.Glu7Lys) c.97G>A (p.Glu33Lys) | |
6 | g.144186646G>C | CA365948360 | STX11 | c.19G>C (p.Glu7Gln) c.97G>C (p.Glu33Gln) | |
6 | g.144186646G>T | CA365948358 | STX11 | c.19G>T (p.Glu7Ter) c.97G>T (p.Glu33Ter) | |
6 | g.144186647A= | CA1669582426 | STX11 | c.20A= (p.Glu7=) c.98A= (p.Glu33=) | |
6 | g.144186647A>C | CA4031596 | STX11 | c.20A>C (p.Glu7Ala) c.98A>C (p.Glu33Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186647A>G | CA365948361 | STX11 | c.20A>G (p.Glu7Gly) c.98A>G (p.Glu33Gly) | |
6 | g.144186647A>T | CA365948362 | STX11 | c.20A>T (p.Glu7Val) c.98A>T (p.Glu33Val) | |
6 | g.144186648A>C | CA365948363 | STX11 | c.21A>C (p.Glu7Asp) c.99A>C (p.Glu33Asp) | |
6 | g.144186648A>G | CA452707620 | STX11 | c.21A>G (p.Glu7=) c.99A>G (p.Glu33=) | gnomAD v4 |
6 | g.144186648A>T | CA365948364 | STX11 | c.21A>T (p.Glu7Asp) c.99A>T (p.Glu33Asp) | |
6 | g.144186648_144186651delinsACTT | CA1669582427 | STX11 | c.21_24delinsACTT (p.Glu7=) c.99_102delinsACTT (p.Glu33=) | |
6 | g.144186649C>A | CA365948365 | STX11 | c.22C>A (p.Leu8Ile) c.100C>A (p.Leu34Ile) | |
6 | g.144186649C= | CA1669582428 | STX11 | c.22C= (p.Leu8=) c.100C= (p.Leu34=) | |
6 | g.144186649C>G | CA365948366 | STX11 | c.22C>G (p.Leu8Val) c.100C>G (p.Leu34Val) | |
6 | g.144186649C>T | CA4031598 | STX11 | c.22C>T (p.Leu8Phe) c.100C>T (p.Leu34Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186651_144186653del | CA4031597 | STX11 | c.24_26del (p.Leu9del) c.102_104del (p.Leu35del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186650T>A | CA365948367 | STX11 | c.23T>A (p.Leu8His) c.101T>A (p.Leu34His) | |
6 | g.144186650T>C | CA365948368 | STX11 | c.23T>C (p.Leu8Pro) c.101T>C (p.Leu34Pro) | |
6 | g.144186650T>G | CA365948369 | STX11 | c.23T>G (p.Leu8Arg) c.101T>G (p.Leu34Arg) | |
6 | g.144186651T>A | CA452707622 | STX11 | c.24T>A (p.Leu8=) c.102T>A (p.Leu34=) | |
6 | g.144186651T>C | CA452707623 | STX11 | c.24T>C (p.Leu8=) c.102T>C (p.Leu34=) | gnomAD v4 |
6 | g.144186651T>G | CA452707624 | STX11 | c.24T>G (p.Leu8=) c.102T>G (p.Leu34=) | |
6 | g.144186652C>A | CA365948371 | STX11 | c.25C>A (p.Leu9Met) c.103C>A (p.Leu35Met) | |
6 | g.144186652C= | CA1669582429 | STX11 | c.25C= (p.Leu9=) c.103C= (p.Leu35=) | |
6 | g.144186652C>G | CA365948370 | STX11 | c.25C>G (p.Leu9Val) c.103C>G (p.Leu35Val) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.144186652C>T | CA452707625 | STX11 | c.25C>T (p.Leu9=) c.103C>T (p.Leu35=) | |
6 | g.144186653del | CA2680618341 | STX11 | c.26del (p.Leu9ArgfsTer?) c.104del (p.Leu35ArgfsTer?) | gnomAD v4 |
6 | g.144186653T>A | CA365948372 | STX11 | c.26T>A (p.Leu9Gln) c.104T>A (p.Leu35Gln) | gnomAD v4 |
6 | g.144186653T>C | CA4031600 | STX11 | c.26T>C (p.Leu9Pro) c.104T>C (p.Leu35Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.144186653T>G | CA4031599 | STX11 | c.26T>G (p.Leu9Arg) c.104T>G (p.Leu35Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186653T= | CA1669582430 | STX11 | c.26T= (p.Leu9=) c.104T= (p.Leu35=) | |
6 | g.144186654G>A | CA452707626 | STX11 | c.27G>A (p.Leu9=) c.105G>A (p.Leu35=) | |
6 | g.144186654G>C | CA452707627 | STX11 | c.27G>C (p.Leu9=) c.105G>C (p.Leu35=) | |
6 | g.144186654G>T | CA452707628 | STX11 | c.27G>T (p.Leu9=) c.105G>T (p.Leu35=) | |
6 | g.144186655G>A | CA365948373 | STX11 | c.28G>A (p.Asp10Asn) c.106G>A (p.Asp36Asn) | |
6 | g.144186655G>C | CA365948374 | STX11 | c.28G>C (p.Asp10His) c.106G>C (p.Asp36His) | |
6 | g.144186655G= | CA1669582431 | STX11 | c.28G= (p.Asp10=) c.106G= (p.Asp36=) | |
6 | g.144186655G>T | CA365948375 | STX11 | c.28G>T (p.Asp10Tyr) c.106G>T (p.Asp36Tyr) | dbSNP gnomAD v4 COSMIC |
6 | g.144186656A>C | CA365948376 | STX11 | c.29A>C (p.Asp10Ala) c.107A>C (p.Asp36Ala) | |
6 | g.144186656A>G | CA365948377 | STX11 | c.29A>G (p.Asp10Gly) c.107A>G (p.Asp36Gly) | |
6 | g.144186656A>T | CA365948378 | STX11 | c.29A>T (p.Asp10Val) c.107A>T (p.Asp36Val) | |
6 | g.144186657C>A | CA365948379 | STX11 | c.30C>A (p.Asp10Glu) c.108C>A (p.Asp36Glu) | |
6 | g.144186657C>G | CA365948380 | STX11 | c.30C>G (p.Asp10Glu) c.108C>G (p.Asp36Glu) | |
6 | g.144186657C>T | CA452707629 | STX11 | c.30C>T (p.Asp10=) c.108C>T (p.Asp36=) | gnomAD v4 |
6 | g.144186658T>A | CA365948381 | STX11 | c.31T>A (p.Leu11Met) c.109T>A (p.Leu37Met) | |
6 | g.144186658T>C | CA452707631 | STX11 | c.31T>C (p.Leu11=) c.109T>C (p.Leu37=) | |
6 | g.144186658T>G | CA365948382 | STX11 | c.31T>G (p.Leu11Val) c.109T>G (p.Leu37Val) | |
6 | g.144186659T>A | CA365948385 | STX11 | c.32T>A (p.Leu11Ter) c.110T>A (p.Leu37Ter) | |
6 | g.144186659T>C | CA365948384 | STX11 | c.32T>C (p.Leu11Ser) c.110T>C (p.Leu37Ser) | |
6 | g.144186659T>G | CA365948383 | STX11 | c.32T>G (p.Leu11Trp) c.110T>G (p.Leu37Trp) | |
6 | g.144186660G>A | CA4031601 | STX11 | c.33G>A (p.Leu11=) c.111G>A (p.Leu37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.144186660G>C | CA365948387 | STX11 | c.33G>C (p.Leu11Phe) c.111G>C (p.Leu37Phe) | |
6 | g.144186660G= | CA1669582432 | STX11 | c.33G= (p.Leu11=) c.111G= (p.Leu37=) | |
6 | g.144186660G>T | CA365948386 | STX11 | c.33G>T (p.Leu11Phe) c.111G>T (p.Leu37Phe) | gnomAD v4 |
6 | g.144186661T>A | CA365948388 | STX11 | c.34T>A (p.Ser12Thr) c.112T>A (p.Ser38Thr) | |
6 | g.144186661T>C | CA365948389 | STX11 | c.34T>C (p.Ser12Pro) c.112T>C (p.Ser38Pro) | |
6 | g.144186661T>G | CA365948390 | STX11 | c.34T>G (p.Ser12Ala) c.112T>G (p.Ser38Ala) | ClinVar dbSNP |
6 | g.144186661T= | CA1669582433 | STX11 | c.34T= (p.Ser12=) c.112T= (p.Ser38=) | |
6 | g.144186662C>A | CA365948391 | STX11 | c.35C>A (p.Ser12Tyr) c.113C>A (p.Ser38Tyr) | |
6 | g.144186662C>G | CA365948392 | STX11 | c.35C>G (p.Ser12Cys) c.113C>G (p.Ser38Cys) | |
6 | g.144186662C>T | CA365948393 | STX11 | c.35C>T (p.Ser12Phe) c.113C>T (p.Ser38Phe) | |
6 | g.144186663C>A | CA452707632 | STX11 | c.36C>A (p.Ser12=) c.114C>A (p.Ser38=) | |
6 | g.144186663C>G | CA452707634 | STX11 | c.36C>G (p.Ser12=) c.114C>G (p.Ser38=) | gnomAD v4 |
6 | g.144186663C>T | CA452707633 | STX11 | c.36C>T (p.Ser12=) c.114C>T (p.Ser38=) | ClinVar |
6 | g.144186664A>C | CA365948394 | STX11 | c.37A>C (p.Lys13Gln) c.115A>C (p.Lys39Gln) | |
6 | g.144186664A>G | CA365948395 | STX11 | c.37A>G (p.Lys13Glu) c.115A>G (p.Lys39Glu) | gnomAD v4 |
6 | g.144186664A>T | CA365948396 | STX11 | c.37A>T (p.Lys13Ter) c.115A>T (p.Lys39Ter) |