| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.10631494A= | CA2322525752 | SLC44A2 | c.461A= (p.Gln154=) c.455A= (p.Gln152=) c.246-3262A= (n.246-3262A=) n.370A= c.302A= (p.Gln101=) c.296A= (p.Gln99=) c.-89A= (n.-89A=) c.*258A= (n.*258A=) | |
| 19 | g.10631494A>C | CA404019312 | SLC44A2 | c.461A>C (p.Gln154Pro) c.455A>C (p.Gln152Pro) c.246-3262A>C (n.246-3262A>C) n.370A>C c.302A>C (p.Gln101Pro) c.296A>C (p.Gln99Pro) c.-89A>C (n.-89A>C) c.*258A>C (n.*258A>C) | |
| 19 | g.10631494A>G | CA9198354 | SLC44A2 | c.461A>G (p.Gln154Arg) c.455A>G (p.Gln152Arg) c.246-3262A>G (n.246-3262A>G) n.370A>G c.302A>G (p.Gln101Arg) c.296A>G (p.Gln99Arg) c.-89A>G (n.-89A>G) c.*258A>G (n.*258A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10631494A>T | CA404019315 | SLC44A2 | c.461A>T (p.Gln154Leu) c.455A>T (p.Gln152Leu) c.246-3262A>T (n.246-3262A>T) n.370A>T c.302A>T (p.Gln101Leu) c.296A>T (p.Gln99Leu) c.-89A>T (n.-89A>T) c.*258A>T (n.*258A>T) | dbSNP |
| 19 | g.10631495A>C | CA404019317 | SLC44A2 | c.462A>C (p.Gln154His) c.456A>C (p.Gln152His) c.246-3261A>C (n.246-3261A>C) n.371A>C c.303A>C (p.Gln101His) c.297A>C (p.Gln99His) c.-88A>C (n.-88A>C) c.*259A>C (n.*259A>C) | |
| 19 | g.10631495A>G | CA505480858 | SLC44A2 | c.462A>G (p.Gln154=) c.456A>G (p.Gln152=) c.246-3261A>G (n.246-3261A>G) n.371A>G c.303A>G (p.Gln101=) c.297A>G (p.Gln99=) c.-88A>G (n.-88A>G) c.*259A>G (n.*259A>G) | |
| 19 | g.10631495A>T | CA404019319 | SLC44A2 | c.462A>T (p.Gln154His) c.456A>T (p.Gln152His) c.246-3261A>T (n.246-3261A>T) n.371A>T c.303A>T (p.Gln101His) c.297A>T (p.Gln99His) c.-88A>T (n.-88A>T) c.*259A>T (n.*259A>T) | |
| 19 | g.10631496G>A | CA404019322 | SLC44A2 | c.463G>A (p.Asp155Asn) c.457G>A (p.Asp153Asn) c.246-3260G>A (n.246-3260G>A) n.372G>A c.304G>A (p.Asp102Asn) c.298G>A (p.Asp100Asn) c.-87G>A (n.-87G>A) c.*260G>A (n.*260G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.10631496G>C | CA404019324 | SLC44A2 | c.463G>C (p.Asp155His) c.457G>C (p.Asp153His) c.246-3260G>C (n.246-3260G>C) n.372G>C c.304G>C (p.Asp102His) c.298G>C (p.Asp100His) c.-87G>C (n.-87G>C) c.*260G>C (n.*260G>C) | |
| 19 | g.10631496G= | CA2322525753 | SLC44A2 | c.463G= (p.Asp155=) c.457G= (p.Asp153=) c.246-3260G= (n.246-3260G=) n.372G= c.304G= (p.Asp102=) c.298G= (p.Asp100=) c.-87G= (n.-87G=) c.*260G= (n.*260G=) | |
| 19 | g.10631496G>T | CA404019326 | SLC44A2 | c.463G>T (p.Asp155Tyr) c.457G>T (p.Asp153Tyr) c.246-3260G>T (n.246-3260G>T) n.372G>T c.304G>T (p.Asp102Tyr) c.298G>T (p.Asp100Tyr) c.-87G>T (n.-87G>T) c.*260G>T (n.*260G>T) | |
| 19 | g.10631497A= | CA2322525754 | SLC44A2 | c.464A= (p.Asp155=) c.458A= (p.Asp153=) c.246-3259A= (n.246-3259A=) n.373A= c.305A= (p.Asp102=) c.299A= (p.Asp100=) c.-86A= (n.-86A=) c.*261A= (n.*261A=) | |
| 19 | g.10631497A>C | CA404019329 | SLC44A2 | c.464A>C (p.Asp155Ala) c.458A>C (p.Asp153Ala) c.246-3259A>C (n.246-3259A>C) n.373A>C c.305A>C (p.Asp102Ala) c.299A>C (p.Asp100Ala) c.-86A>C (n.-86A>C) c.*261A>C (n.*261A>C) | |
| 19 | g.10631497A>G | CA404019330 | SLC44A2 | c.464A>G (p.Asp155Gly) c.458A>G (p.Asp153Gly) c.246-3259A>G (n.246-3259A>G) n.373A>G c.305A>G (p.Asp102Gly) c.299A>G (p.Asp100Gly) c.-86A>G (n.-86A>G) c.*261A>G (n.*261A>G) | dbSNP |
| 19 | g.10631497A>T | CA404019332 | SLC44A2 | c.464A>T (p.Asp155Val) c.458A>T (p.Asp153Val) c.246-3259A>T (n.246-3259A>T) n.373A>T c.305A>T (p.Asp102Val) c.299A>T (p.Asp100Val) c.-86A>T (n.-86A>T) c.*261A>T (n.*261A>T) | |
| 19 | g.10631498T>A | CA404019335 | SLC44A2 | c.465T>A (p.Asp155Glu) c.459T>A (p.Asp153Glu) c.246-3258T>A (n.246-3258T>A) n.374T>A c.306T>A (p.Asp102Glu) c.300T>A (p.Asp100Glu) c.-85T>A (n.-85T>A) c.*262T>A (n.*262T>A) | |
| 19 | g.10631498T>C | CA505480859 | SLC44A2 | c.465T>C (p.Asp155=) c.459T>C (p.Asp153=) c.246-3258T>C (n.246-3258T>C) n.374T>C c.306T>C (p.Asp102=) c.300T>C (p.Asp100=) c.-85T>C (n.-85T>C) c.*262T>C (n.*262T>C) | |
| 19 | g.10631498T>G | CA404019337 | SLC44A2 | c.465T>G (p.Asp155Glu) c.459T>G (p.Asp153Glu) c.246-3258T>G (n.246-3258T>G) n.374T>G c.306T>G (p.Asp102Glu) c.300T>G (p.Asp100Glu) c.-85T>G (n.-85T>G) c.*262T>G (n.*262T>G) | |
| 19 | g.10631499G>A | CA404019342 | SLC44A2 | c.466G>A (p.Gly156Ser) c.460G>A (p.Gly154Ser) c.246-3257G>A (n.246-3257G>A) n.375G>A c.307G>A (p.Gly103Ser) c.301G>A (p.Gly101Ser) c.-84G>A (n.-84G>A) c.*263G>A (n.*263G>A) | |
| 19 | g.10631499G>C | CA404019343 | SLC44A2 | c.466G>C (p.Gly156Arg) c.460G>C (p.Gly154Arg) c.246-3257G>C (n.246-3257G>C) n.375G>C c.307G>C (p.Gly103Arg) c.301G>C (p.Gly101Arg) c.-84G>C (n.-84G>C) c.*263G>C (n.*263G>C) | |
| 19 | g.10631499G>T | CA404019340 | SLC44A2 | c.466G>T (p.Gly156Cys) c.460G>T (p.Gly154Cys) c.246-3257G>T (n.246-3257G>T) n.375G>T c.307G>T (p.Gly103Cys) c.301G>T (p.Gly101Cys) c.-84G>T (n.-84G>T) c.*263G>T (n.*263G>T) | |
| 19 | g.10631500G>A | CA404019345 | SLC44A2 | c.467G>A (p.Gly156Asp) c.461G>A (p.Gly154Asp) c.246-3256G>A (n.246-3256G>A) n.376G>A c.308G>A (p.Gly103Asp) c.302G>A (p.Gly101Asp) c.-83G>A (n.-83G>A) c.*264G>A (n.*264G>A) | |
| 19 | g.10631500G>C | CA404019344 | SLC44A2 | c.467G>C (p.Gly156Ala) c.461G>C (p.Gly154Ala) c.246-3256G>C (n.246-3256G>C) n.376G>C c.308G>C (p.Gly103Ala) c.302G>C (p.Gly101Ala) c.-83G>C (n.-83G>C) c.*264G>C (n.*264G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10631500G= | CA2322525755 | SLC44A2 | c.467G= (p.Gly156=) c.461G= (p.Gly154=) c.246-3256G= (n.246-3256G=) n.376G= c.308G= (p.Gly103=) c.302G= (p.Gly101=) c.-83G= (n.-83G=) c.*264G= (n.*264G=) | |
| 19 | g.10631500G>T | CA404019346 | SLC44A2 | c.467G>T (p.Gly156Val) c.461G>T (p.Gly154Val) c.246-3256G>T (n.246-3256G>T) n.376G>T c.308G>T (p.Gly103Val) c.302G>T (p.Gly101Val) c.-83G>T (n.-83G>T) c.*264G>T (n.*264G>T) | |
| 19 | g.10631501T>A | CA505480860 | SLC44A2 | c.468T>A (p.Gly156=) c.462T>A (p.Gly154=) c.246-3255T>A (n.246-3255T>A) n.377T>A c.309T>A (p.Gly103=) c.303T>A (p.Gly101=) c.-82T>A (n.-82T>A) c.*265T>A (n.*265T>A) | |
| 19 | g.10631501T>C | CA505480861 | SLC44A2 | c.468T>C (p.Gly156=) c.462T>C (p.Gly154=) c.246-3255T>C (n.246-3255T>C) n.377T>C c.309T>C (p.Gly103=) c.303T>C (p.Gly101=) c.-82T>C (n.-82T>C) c.*265T>C (n.*265T>C) | gnomAD v4 |
| 19 | g.10631501T>G | CA505480862 | SLC44A2 | c.468T>G (p.Gly156=) c.462T>G (p.Gly154=) c.246-3255T>G (n.246-3255T>G) n.377T>G c.309T>G (p.Gly103=) c.303T>G (p.Gly101=) c.-82T>G (n.-82T>G) c.*265T>G (n.*265T>G) | |
| 19 | g.10631502G>A | CA404019347 | SLC44A2 | c.469G>A (p.Asp157Asn) c.463G>A (p.Asp155Asn) c.246-3254G>A (n.246-3254G>A) n.378G>A c.310G>A (p.Asp104Asn) c.304G>A (p.Asp102Asn) c.-81G>A (n.-81G>A) c.*266G>A (n.*266G>A) | |
| 19 | g.10631502G>C | CA404019348 | SLC44A2 | c.469G>C (p.Asp157His) c.463G>C (p.Asp155His) c.246-3254G>C (n.246-3254G>C) n.378G>C c.310G>C (p.Asp104His) c.304G>C (p.Asp102His) c.-81G>C (n.-81G>C) c.*266G>C (n.*266G>C) | |
| 19 | g.10631502G= | CA2322525756 | SLC44A2 | c.469G= (p.Asp157=) c.463G= (p.Asp155=) c.246-3254G= (n.246-3254G=) n.378G= c.310G= (p.Asp104=) c.304G= (p.Asp102=) c.-81G= (n.-81G=) c.*266G= (n.*266G=) | |
| 19 | g.10631502G>T | CA305238627 | SLC44A2 | c.469G>T (p.Asp157Tyr) c.463G>T (p.Asp155Tyr) c.246-3254G>T (n.246-3254G>T) n.378G>T c.310G>T (p.Asp104Tyr) c.304G>T (p.Asp102Tyr) c.-81G>T (n.-81G>T) c.*266G>T (n.*266G>T) | dbSNP gnomAD v4 |
| 19 | g.10631503A>C | CA404019349 | SLC44A2 | c.470A>C (p.Asp157Ala) c.464A>C (p.Asp155Ala) c.246-3253A>C (n.246-3253A>C) n.379A>C c.311A>C (p.Asp104Ala) c.305A>C (p.Asp102Ala) c.-80A>C (n.-80A>C) c.*267A>C (n.*267A>C) | |
| 19 | g.10631503A>G | CA404019351 | SLC44A2 | c.470A>G (p.Asp157Gly) c.464A>G (p.Asp155Gly) c.246-3253A>G (n.246-3253A>G) n.379A>G c.311A>G (p.Asp104Gly) c.305A>G (p.Asp102Gly) c.-80A>G (n.-80A>G) c.*267A>G (n.*267A>G) | |
| 19 | g.10631503A>T | CA404019350 | SLC44A2 | c.470A>T (p.Asp157Val) c.464A>T (p.Asp155Val) c.246-3253A>T (n.246-3253A>T) n.379A>T c.311A>T (p.Asp104Val) c.305A>T (p.Asp102Val) c.-80A>T (n.-80A>T) c.*267A>T (n.*267A>T) | |
| 19 | g.10631504C>A | CA9198355 | SLC44A2 | c.471C>A (p.Asp157Glu) c.465C>A (p.Asp155Glu) c.246-3252C>A (n.246-3252C>A) n.380C>A c.312C>A (p.Asp104Glu) c.306C>A (p.Asp102Glu) c.-79C>A (n.-79C>A) c.*268C>A (n.*268C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.10631504C= | CA2322525757 | SLC44A2 | c.471C= (p.Asp157=) c.465C= (p.Asp155=) c.246-3252C= (n.246-3252C=) n.380C= c.312C= (p.Asp104=) c.306C= (p.Asp102=) c.-79C= (n.-79C=) c.*268C= (n.*268C=) | |
| 19 | g.10631504C>G | CA404019352 | SLC44A2 | c.471C>G (p.Asp157Glu) c.465C>G (p.Asp155Glu) c.246-3252C>G (n.246-3252C>G) n.380C>G c.312C>G (p.Asp104Glu) c.306C>G (p.Asp102Glu) c.-79C>G (n.-79C>G) c.*268C>G (n.*268C>G) | |
| 19 | g.10631504C>T | CA505480863 | SLC44A2 | c.471C>T (p.Asp157=) c.465C>T (p.Asp155=) c.246-3252C>T (n.246-3252C>T) n.380C>T c.312C>T (p.Asp104=) c.306C>T (p.Asp102=) c.-79C>T (n.-79C>T) c.*268C>T (n.*268C>T) | gnomAD v4 |
| 19 | g.10631505T>A | CA404019353 | SLC44A2 | c.472T>A (p.Cys158Ser) c.466T>A (p.Cys156Ser) c.246-3251T>A (n.246-3251T>A) n.381T>A c.313T>A (p.Cys105Ser) c.307T>A (p.Cys103Ser) c.-78T>A (n.-78T>A) c.*269T>A (n.*269T>A) | |
| 19 | g.10631505T>C | CA404019354 | SLC44A2 | c.472T>C (p.Cys158Arg) c.466T>C (p.Cys156Arg) c.246-3251T>C (n.246-3251T>C) n.381T>C c.313T>C (p.Cys105Arg) c.307T>C (p.Cys103Arg) c.-78T>C (n.-78T>C) c.*269T>C (n.*269T>C) | |
| 19 | g.10631505T>G | CA404019355 | SLC44A2 | c.472T>G (p.Cys158Gly) c.466T>G (p.Cys156Gly) c.246-3251T>G (n.246-3251T>G) n.381T>G c.313T>G (p.Cys105Gly) c.307T>G (p.Cys103Gly) c.-78T>G (n.-78T>G) c.*269T>G (n.*269T>G) | |
| 19 | g.10631506G>A | CA404019356 | SLC44A2 | c.473G>A (p.Cys158Tyr) c.467G>A (p.Cys156Tyr) c.246-3250G>A (n.246-3250G>A) n.382G>A c.314G>A (p.Cys105Tyr) c.308G>A (p.Cys103Tyr) c.-77G>A (n.-77G>A) c.*270G>A (n.*270G>A) | |
| 19 | g.10631506G>C | CA404019357 | SLC44A2 | c.473G>C (p.Cys158Ser) c.467G>C (p.Cys156Ser) c.246-3250G>C (n.246-3250G>C) n.382G>C c.314G>C (p.Cys105Ser) c.308G>C (p.Cys103Ser) c.-77G>C (n.-77G>C) c.*270G>C (n.*270G>C) | |
| 19 | g.10631506G>T | CA404019358 | SLC44A2 | c.473G>T (p.Cys158Phe) c.467G>T (p.Cys156Phe) c.246-3250G>T (n.246-3250G>T) n.382G>T c.314G>T (p.Cys105Phe) c.308G>T (p.Cys103Phe) c.-77G>T (n.-77G>T) c.*270G>T (n.*270G>T) | |
| 19 | g.10631507C>A | CA404019359 | SLC44A2 | c.474C>A (p.Cys158Ter) c.468C>A (p.Cys156Ter) c.246-3249C>A (n.246-3249C>A) n.383C>A c.315C>A (p.Cys105Ter) c.309C>A (p.Cys103Ter) c.-76C>A (n.-76C>A) c.*271C>A (n.*271C>A) | |
| 19 | g.10631507C= | CA2322525758 | SLC44A2 | c.474C= (p.Cys158=) c.468C= (p.Cys156=) c.246-3249C= (n.246-3249C=) n.383C= c.315C= (p.Cys105=) c.309C= (p.Cys103=) c.-76C= (n.-76C=) c.*271C= (n.*271C=) | |
| 19 | g.10631507C>G | CA404019360 | SLC44A2 | c.474C>G (p.Cys158Trp) c.468C>G (p.Cys156Trp) c.246-3249C>G (n.246-3249C>G) n.383C>G c.315C>G (p.Cys105Trp) c.309C>G (p.Cys103Trp) c.-76C>G (n.-76C>G) c.*271C>G (n.*271C>G) | |
| 19 | g.10631507C>T | CA9198356 | SLC44A2 | c.474C>T (p.Cys158=) c.468C>T (p.Cys156=) c.246-3249C>T (n.246-3249C>T) n.383C>T c.315C>T (p.Cys105=) c.309C>T (p.Cys103=) c.-76C>T (n.-76C>T) c.*271C>T (n.*271C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.10631508C>A | CA404019361 | SLC44A2 | c.475C>A (p.Pro159Thr) c.469C>A (p.Pro157Thr) c.246-3248C>A (n.246-3248C>A) n.384C>A c.316C>A (p.Pro106Thr) c.310C>A (p.Pro104Thr) c.-75C>A (n.-75C>A) c.*272C>A (n.*272C>A) | gnomAD v4 |