| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 6 | g.144186665A= | CA1669582434 | STX11 | c.38A= (p.Lys13=) c.116A= (p.Lys39=) | |
| 6 | g.144186665A>C | CA365948397 | STX11 | c.38A>C (p.Lys13Thr) c.116A>C (p.Lys39Thr) | |
| 6 | g.144186665A>G | CA365948398 | STX11 | c.38A>G (p.Lys13Arg) c.116A>G (p.Lys39Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186665A>T | CA365948399 | STX11 | c.38A>T (p.Lys13Met) c.116A>T (p.Lys39Met) | |
| 6 | g.144186666G>A | CA149823915 | STX11 | c.39G>A (p.Lys13=) c.117G>A (p.Lys39=) | dbSNP |
| 6 | g.144186666G>C | CA365948400 | STX11 | c.39G>C (p.Lys13Asn) c.117G>C (p.Lys39Asn) | |
| 6 | g.144186666G= | CA1669582435 | STX11 | c.39G= (p.Lys13=) c.117G= (p.Lys39=) | |
| 6 | g.144186666G>T | CA365948401 | STX11 | c.39G>T (p.Lys13Asn) c.117G>T (p.Lys39Asn) | |
| 6 | g.144186667C>A | CA365948402 | STX11 | c.40C>A (p.Gln14Lys) c.118C>A (p.Gln40Lys) | |
| 6 | g.144186667C>G | CA365948403 | STX11 | c.40C>G (p.Gln14Glu) c.118C>G (p.Gln40Glu) | |
| 6 | g.144186667C>T | CA365948404 | STX11 | c.40C>T (p.Gln14Ter) c.118C>T (p.Gln40Ter) | gnomAD v4 |
| 6 | g.144186668A>C | CA365948405 | STX11 | c.41A>C (p.Gln14Pro) c.119A>C (p.Gln40Pro) | |
| 6 | g.144186668A>G | CA365948406 | STX11 | c.41A>G (p.Gln14Arg) c.119A>G (p.Gln40Arg) | |
| 6 | g.144186668A>T | CA365948407 | STX11 | c.41A>T (p.Gln14Leu) c.119A>T (p.Gln40Leu) | |
| 6 | g.144186669A= | CA1669582436 | STX11 | c.42A= (p.Gln14=) c.120A= (p.Gln40=) | |
| 6 | g.144186669A>C | CA365948408 | STX11 | c.42A>C (p.Gln14His) c.120A>C (p.Gln40His) | |
| 6 | g.144186669A>G | CA4031602 | STX11 | c.42A>G (p.Gln14=) c.120A>G (p.Gln40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186669A>T | CA365948409 | STX11 | c.42A>T (p.Gln14His) c.120A>T (p.Gln40His) | |
| 6 | g.144186670T>A | CA365948410 | STX11 | c.43T>A (p.Tyr15Asn) c.121T>A (p.Tyr41Asn) | |
| 6 | g.144186670T>C | CA365948411 | STX11 | c.43T>C (p.Tyr15His) c.121T>C (p.Tyr41His) | |
| 6 | g.144186670T>G | CA365948412 | STX11 | c.43T>G (p.Tyr15Asp) c.121T>G (p.Tyr41Asp) | |
| 6 | g.144186671A= | CA1669582437 | STX11 | c.44A= (p.Tyr15=) c.122A= (p.Tyr41=) | |
| 6 | g.144186671A>C | CA365948415 | STX11 | c.44A>C (p.Tyr15Ser) c.122A>C (p.Tyr41Ser) | |
| 6 | g.144186671A>G | CA365948414 | STX11 | c.44A>G (p.Tyr15Cys) c.122A>G (p.Tyr41Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186671A>T | CA365948413 | STX11 | c.44A>T (p.Tyr15Phe) c.122A>T (p.Tyr41Phe) | |
| 6 | g.144186672T>A | CA365948416 | STX11 | c.45T>A (p.Tyr15Ter) c.123T>A (p.Tyr41Ter) | |
| 6 | g.144186672T>C | CA452707635 | STX11 | c.45T>C (p.Tyr15=) c.123T>C (p.Tyr41=) | |
| 6 | g.144186672T>G | CA365948417 | STX11 | c.45T>G (p.Tyr15Ter) c.123T>G (p.Tyr41Ter) | |
| 6 | g.144186673G>A | CA4031603 | STX11 | c.46G>A (p.Asp16Asn) c.124G>A (p.Asp42Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186673G>C | CA365948419 | STX11 | c.46G>C (p.Asp16His) c.124G>C (p.Asp42His) | |
| 6 | g.144186673G= | CA1669582438 | STX11 | c.46G= (p.Asp16=) c.124G= (p.Asp42=) | |
| 6 | g.144186673G>T | CA365948418 | STX11 | c.46G>T (p.Asp16Tyr) c.124G>T (p.Asp42Tyr) | dbSNP gnomAD v4 |
| 6 | g.144186674A>C | CA365948420 | STX11 | c.47A>C (p.Asp16Ala) c.125A>C (p.Asp42Ala) | |
| 6 | g.144186674A>G | CA365948422 | STX11 | c.47A>G (p.Asp16Gly) c.125A>G (p.Asp42Gly) | |
| 6 | g.144186674A>T | CA365948421 | STX11 | c.47A>T (p.Asp16Val) c.125A>T (p.Asp42Val) | |
| 6 | g.144186675C>A | CA365948423 | STX11 | c.48C>A (p.Asp16Glu) c.126C>A (p.Asp42Glu) | |
| 6 | g.144186675C= | CA1669582439 | STX11 | c.48C= (p.Asp16=) c.126C= (p.Asp42=) | |
| 6 | g.144186675C>G | CA365948424 | STX11 | c.48C>G (p.Asp16Glu) c.126C>G (p.Asp42Glu) | |
| 6 | g.144186675C>T | CA452707636 | STX11 | c.48C>T (p.Asp16=) c.126C>T (p.Asp42=) | |
| 6 | g.144186676C>A | CA365948425 | STX11 | c.49C>A (p.Gln17Lys) c.127C>A (p.Gln43Lys) | |
| 6 | g.144186676C>G | CA365948426 | STX11 | c.49C>G (p.Gln17Glu) c.127C>G (p.Gln43Glu) | |
| 6 | g.144186676C>T | CA365948427 | STX11 | c.49C>T (p.Gln17Ter) c.127C>T (p.Gln43Ter) | |
| 6 | g.144186679_144186681dup | CA1095330516 | STX11 | c.52_54dup (p.Gln18_Phe19insGln) c.130_132dup (p.Gln44_Phe45insGln) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186677A= | CA1669582440 | STX11 | c.50A= (p.Gln17=) c.128A= (p.Gln43=) | |
| 6 | g.144186677A>C | CA365948428 | STX11 | c.50A>C (p.Gln17Pro) c.128A>C (p.Gln43Pro) | |
| 6 | g.144186677A>G | CA4031604 | STX11 | c.50A>G (p.Gln17Arg) c.128A>G (p.Gln43Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186677A>T | CA365948429 | STX11 | c.50A>T (p.Gln17Leu) c.128A>T (p.Gln43Leu) | |
| 6 | g.144186678G>A | CA452707637 | STX11 | c.51G>A (p.Gln17=) c.129G>A (p.Gln43=) | ClinVar dbSNP |
| 6 | g.144186678G>C | CA365948430 | STX11 | c.51G>C (p.Gln17His) c.129G>C (p.Gln43His) | |
| 6 | g.144186678G= | CA1669582441 | STX11 | c.51G= (p.Gln17=) c.129G= (p.Gln43=) | |
| 6 | g.144186678G>T | CA365948431 | STX11 | c.51G>T (p.Gln17His) c.129G>T (p.Gln43His) | |
| 6 | g.144186679C>A | CA365948432 | STX11 | c.52C>A (p.Gln18Lys) c.130C>A (p.Gln44Lys) | |
| 6 | g.144186679C>G | CA365948433 | STX11 | c.52C>G (p.Gln18Glu) c.130C>G (p.Gln44Glu) | |
| 6 | g.144186679C>T | CA365948434 | STX11 | c.52C>T (p.Gln18Ter) c.130C>T (p.Gln44Ter) | |
| 6 | g.144186680A= | CA1669582442 | STX11 | c.53A= (p.Gln18=) c.131A= (p.Gln44=) | |
| 6 | g.144186680A>C | CA365948436 | STX11 | c.53A>C (p.Gln18Pro) c.131A>C (p.Gln44Pro) | |
| 6 | g.144186680A>G | CA365948435 | STX11 | c.53A>G (p.Gln18Arg) c.131A>G (p.Gln44Arg) | ClinVar dbSNP gnomAD v4 |
| 6 | g.144186680A>T | CA149823916 | STX11 | c.53A>T (p.Gln18Leu) c.131A>T (p.Gln44Leu) | dbSNP gnomAD v4 |
| 6 | g.144186681G>A | CA452707638 | STX11 | c.54G>A (p.Gln18=) c.132G>A (p.Gln44=) | |
| 6 | g.144186681G>C | CA365948437 | STX11 | c.54G>C (p.Gln18His) c.132G>C (p.Gln44His) | |
| 6 | g.144186681G= | CA1669582443 | STX11 | c.54G= (p.Gln18=) c.132G= (p.Gln44=) | |
| 6 | g.144186681G>T | CA365948438 | STX11 | c.54G>T (p.Gln18His) c.132G>T (p.Gln44His) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186682T>A | CA365948439 | STX11 | c.55T>A (p.Phe19Ile) c.133T>A (p.Phe45Ile) | |
| 6 | g.144186682T>C | CA365948440 | STX11 | c.55T>C (p.Phe19Leu) c.133T>C (p.Phe45Leu) | |
| 6 | g.144186682T>G | CA365948441 | STX11 | c.55T>G (p.Phe19Val) c.133T>G (p.Phe45Val) | |
| 6 | g.144186683T>A | CA365948442 | STX11 | c.56T>A (p.Phe19Tyr) c.134T>A (p.Phe45Tyr) | |
| 6 | g.144186683T>C | CA365948443 | STX11 | c.56T>C (p.Phe19Ser) c.134T>C (p.Phe45Ser) | |
| 6 | g.144186683T>G | CA365948444 | STX11 | c.56T>G (p.Phe19Cys) c.134T>G (p.Phe45Cys) | gnomAD v4 |
| 6 | g.144186683_144186684delinsTC | CA1669582444 | STX11 | c.56_57delinsTC (p.Phe19=) c.134_135delinsTC (p.Phe45=) | |
| 6 | g.144186684C>A | CA365948445 | STX11 | c.57C>A (p.Phe19Leu) c.135C>A (p.Phe45Leu) | |
| 6 | g.144186684C= | CA1669582445 | STX11 | c.57C= (p.Phe19=) c.135C= (p.Phe45=) | |
| 6 | g.144186684C>G | CA365948446 | STX11 | c.57C>G (p.Phe19Leu) c.135C>G (p.Phe45Leu) | |
| 6 | g.144186684C>T | CA452707639 | STX11 | c.57C>T (p.Phe19=) c.135C>T (p.Phe45=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.144186686del | CA570979832 | STX11 | c.59del (p.Pro20GlnfsTer?) c.137del (p.Pro46GlnfsTer?) | dbSNP gnomAD v2 |
| 6 | g.144186685C>A | CA365948448 | STX11 | c.58C>A (p.Pro20Thr) c.136C>A (p.Pro46Thr) | |
| 6 | g.144186685C= | CA1669582446 | STX11 | c.58C= (p.Pro20=) c.136C= (p.Pro46=) | |
| 6 | g.144186685C>G | CA365948447 | STX11 | c.58C>G (p.Pro20Ala) c.136C>G (p.Pro46Ala) | |
| 6 | g.144186685C>T | CA4031605 | STX11 | c.58C>T (p.Pro20Ser) c.136C>T (p.Pro46Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186686C>A | CA365948449 | STX11 | c.59C>A (p.Pro20Gln) c.137C>A (p.Pro46Gln) | |
| 6 | g.144186686C>G | CA365948450 | STX11 | c.59C>G (p.Pro20Arg) c.137C>G (p.Pro46Arg) | |
| 6 | g.144186686C>T | CA365948451 | STX11 | c.59C>T (p.Pro20Leu) c.137C>T (p.Pro46Leu) | |
| 6 | g.144186687A>C | CA452707640 | STX11 | c.60A>C (p.Pro20=) c.138A>C (p.Pro46=) | |
| 6 | g.144186687A>G | CA452707641 | STX11 | c.60A>G (p.Pro20=) c.138A>G (p.Pro46=) | |
| 6 | g.144186687A>T | CA452707642 | STX11 | c.60A>T (p.Pro20=) c.138A>T (p.Pro46=) | |
| 6 | g.144186688G>A | CA365948452 | STX11 | c.61G>A (p.Asp21Asn) c.139G>A (p.Asp47Asn) | |
| 6 | g.144186688G>C | CA365948453 | STX11 | c.61G>C (p.Asp21His) c.139G>C (p.Asp47His) | |
| 6 | g.144186688G>T | CA365948454 | STX11 | c.61G>T (p.Asp21Tyr) c.139G>T (p.Asp47Tyr) | |
| 6 | g.144186689A= | CA1669582447 | STX11 | c.62A= (p.Asp21=) c.140A= (p.Asp47=) | |
| 6 | g.144186689A>C | CA4031606 | STX11 | c.62A>C (p.Asp21Ala) c.140A>C (p.Asp47Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186689A>G | CA365948455 | STX11 | c.62A>G (p.Asp21Gly) c.140A>G (p.Asp47Gly) | gnomAD v4 |
| 6 | g.144186689A>T | CA365948456 | STX11 | c.62A>T (p.Asp21Val) c.140A>T (p.Asp47Val) | |
| 6 | g.144186690C>A | CA149823917 | STX11 | c.63C>A (p.Asp21Glu) c.141C>A (p.Asp47Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186690C= | CA1669582448 | STX11 | c.63C= (p.Asp21=) c.141C= (p.Asp47=) | |
| 6 | g.144186690C>G | CA4031607 | STX11 | c.63C>G (p.Asp21Glu) c.141C>G (p.Asp47Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186690C>T | CA10623067 | STX11 | c.63C>T (p.Asp21=) c.141C>T (p.Asp47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.144186691G>A | CA365948458 | STX11 | c.64G>A (p.Gly22Arg) c.142G>A (p.Gly48Arg) | |
| 6 | g.144186691G>C | CA149823918 | STX11 | c.64G>C (p.Gly22Arg) c.142G>C (p.Gly48Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186691G= | CA1669582450 | STX11 | c.64G= (p.Gly22=) c.142G= (p.Gly48=) | |
| 6 | g.144186691G>T | CA365948457 | STX11 | c.64G>T (p.Gly22Trp) c.142G>T (p.Gly48Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186691_144186696delinsGGGGAC | CA1669582449 | STX11 | c.64_69delinsGGGGAC (p.Gly22=) c.142_147delinsGGGGAC (p.Gly48=) | |
| 6 | g.144186692G>A | CA365948459 | STX11 | c.65G>A (p.Gly22Glu) c.143G>A (p.Gly48Glu) | gnomAD v4 |
| 6 | g.144186692G>C | CA365948460 | STX11 | c.65G>C (p.Gly22Ala) c.143G>C (p.Gly48Ala) | |
| 6 | g.144186692G>T | CA365948461 | STX11 | c.65G>T (p.Gly22Val) c.143G>T (p.Gly48Val) | |
| 6 | g.144186693_144186697del | CA820185587 | STX11 | c.66_70del (p.Asp23Ter) c.144_148del (p.Asp49Ter) | dbSNP |
| 6 | g.144186693G>A | CA452707643 | STX11 | c.66G>A (p.Gly22=) c.144G>A (p.Gly48=) | |
| 6 | g.144186693G>C | CA452707644 | STX11 | c.66G>C (p.Gly22=) c.144G>C (p.Gly48=) | |
| 6 | g.144186693G>T | CA452707645 | STX11 | c.66G>T (p.Gly22=) c.144G>T (p.Gly48=) | |
| 6 | g.144186694G>A | CA4031608 | STX11 | c.67G>A (p.Asp23Asn) c.145G>A (p.Asp49Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186694G>C | CA365948462 | STX11 | c.67G>C (p.Asp23His) c.145G>C (p.Asp49His) | gnomAD v4 |
| 6 | g.144186694G= | CA1669582451 | STX11 | c.67G= (p.Asp23=) c.145G= (p.Asp49=) | |
| 6 | g.144186694G>T | CA365948463 | STX11 | c.67G>T (p.Asp23Tyr) c.145G>T (p.Asp49Tyr) | gnomAD v4 |
| 6 | g.144186695A= | CA1669582452 | STX11 | c.68A= (p.Asp23=) c.146A= (p.Asp49=) | |
| 6 | g.144186695A>C | CA365948464 | STX11 | c.68A>C (p.Asp23Ala) c.146A>C (p.Asp49Ala) | |
| 6 | g.144186695A>G | CA365948465 | STX11 | c.68A>G (p.Asp23Gly) c.146A>G (p.Asp49Gly) | |
| 6 | g.144186695A>T | CA4031609 | STX11 | c.68A>T (p.Asp23Val) c.146A>T (p.Asp49Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186696C>A | CA365948466 | STX11 | c.69C>A (p.Asp23Glu) c.147C>A (p.Asp49Glu) | |
| 6 | g.144186696C= | CA1669582453 | STX11 | c.69C= (p.Asp23=) c.147C= (p.Asp49=) | |
| 6 | g.144186696C>G | CA365948467 | STX11 | c.69C>G (p.Asp23Glu) c.147C>G (p.Asp49Glu) | |
| 6 | g.144186696C>T | CA452707646 | STX11 | c.69C>T (p.Asp23=) c.147C>T (p.Asp49=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186697G>A | CA4031610 | STX11 | c.70G>A (p.Asp24Asn) c.148G>A (p.Asp50Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.144186697G>C | CA365948469 | STX11 | c.70G>C (p.Asp24His) c.148G>C (p.Asp50His) | |
| 6 | g.144186697G= | CA1669582454 | STX11 | c.70G= (p.Asp24=) c.148G= (p.Asp50=) | |
| 6 | g.144186697G>T | CA365948468 | STX11 | c.70G>T (p.Asp24Tyr) c.148G>T (p.Asp50Tyr) | |
| 6 | g.144186698A>C | CA365948470 | STX11 | c.71A>C (p.Asp24Ala) c.149A>C (p.Asp50Ala) | |
| 6 | g.144186698A>G | CA365948471 | STX11 | c.71A>G (p.Asp24Gly) c.149A>G (p.Asp50Gly) | gnomAD v4 |
| 6 | g.144186698A>T | CA365948472 | STX11 | c.71A>T (p.Asp24Val) c.149A>T (p.Asp50Val) | |
| 6 | g.144186699T>A | CA365948473 | STX11 | c.72T>A (p.Asp24Glu) c.150T>A (p.Asp50Glu) | |
| 6 | g.144186699T>C | CA452707647 | STX11 | c.72T>C (p.Asp24=) c.150T>C (p.Asp50=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186699T>G | CA365948474 | STX11 | c.72T>G (p.Asp24Glu) c.150T>G (p.Asp50Glu) | |
| 6 | g.144186699T= | CA1669582455 | STX11 | c.72T= (p.Asp24=) c.150T= (p.Asp50=) | |
| 6 | g.144186700G>A | CA365948477 | STX11 | c.73G>A (p.Glu25Lys) c.151G>A (p.Glu51Lys) | |
| 6 | g.144186700G>C | CA365948475 | STX11 | c.73G>C (p.Glu25Gln) c.151G>C (p.Glu51Gln) | |
| 6 | g.144186700G= | CA1669582456 | STX11 | c.73G= (p.Glu25=) c.151G= (p.Glu51=) | |
| 6 | g.144186700G>T | CA365948476 | STX11 | c.73G>T (p.Glu25Ter) c.151G>T (p.Glu51Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.144186701A= | CA1669582457 | STX11 | c.74A= (p.Glu25=) c.152A= (p.Glu51=) | |
| 6 | g.144186701A>C | CA365948478 | STX11 | c.74A>C (p.Glu25Ala) c.152A>C (p.Glu51Ala) | |
| 6 | g.144186701A>G | CA149823919 | STX11 | c.74A>G (p.Glu25Gly) c.152A>G (p.Glu51Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186701A>T | CA365948479 | STX11 | c.74A>T (p.Glu25Val) c.152A>T (p.Glu51Val) | |
| 6 | g.144186702G>A | CA452707648 | STX11 | c.75G>A (p.Glu25=) c.153G>A (p.Glu51=) | |
| 6 | g.144186702G>C | CA365948480 | STX11 | c.75G>C (p.Glu25Asp) c.153G>C (p.Glu51Asp) | |
| 6 | g.144186702G>T | CA365948481 | STX11 | c.75G>T (p.Glu25Asp) c.153G>T (p.Glu51Asp) | |
| 6 | g.144186703T>A | CA4031611 | STX11 | c.76T>A (p.Phe26Ile) c.154T>A (p.Phe52Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.144186703T>C | CA365948482 | STX11 | c.76T>C (p.Phe26Leu) c.154T>C (p.Phe52Leu) | |
| 6 | g.144186703T>G | CA365948483 | STX11 | c.76T>G (p.Phe26Val) c.154T>G (p.Phe52Val) | |
| 6 | g.144186703T= | CA1669582458 | STX11 | c.76T= (p.Phe26=) c.154T= (p.Phe52=) | |
| 6 | g.144186704T>A | CA365948484 | STX11 | c.77T>A (p.Phe26Tyr) c.155T>A (p.Phe52Tyr) | |
| 6 | g.144186704T>C | CA365948485 | STX11 | c.77T>C (p.Phe26Ser) c.155T>C (p.Phe52Ser) | gnomAD v4 |
| 6 | g.144186704T>G | CA365948486 | STX11 | c.77T>G (p.Phe26Cys) c.155T>G (p.Phe52Cys) |