Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.7663376A>C | CA338121338 | CAMTA1 | c.829A>C (p.Lys277Gln) c.*680A>C (n.*680A>C) c.739A>C (p.Lys247Gln) c.757A>C (p.Lys253Gln) c.*598A>C (n.*598A>C) c.817A>C (p.Lys273Gln) | |
1 | g.7663376A>G | CA338121340 | CAMTA1 | c.829A>G (p.Lys277Glu) c.*680A>G (n.*680A>G) c.739A>G (p.Lys247Glu) c.757A>G (p.Lys253Glu) c.*598A>G (n.*598A>G) c.817A>G (p.Lys273Glu) | dbSNP |
1 | g.7663376A>T | CA338121343 | CAMTA1 | c.829A>T (p.Lys277Ter) c.*680A>T (n.*680A>T) c.739A>T (p.Lys247Ter) c.757A>T (p.Lys253Ter) c.*598A>T (n.*598A>T) c.817A>T (p.Lys273Ter) | |
1 | g.7663377A>C | CA338121347 | CAMTA1 | c.830A>C (p.Lys277Thr) c.*681A>C (n.*681A>C) c.740A>C (p.Lys247Thr) c.758A>C (p.Lys253Thr) c.*599A>C (n.*599A>C) c.818A>C (p.Lys273Thr) | |
1 | g.7663377A>G | CA338121350 | CAMTA1 | c.830A>G (p.Lys277Arg) c.*681A>G (n.*681A>G) c.740A>G (p.Lys247Arg) c.758A>G (p.Lys253Arg) c.*599A>G (n.*599A>G) c.818A>G (p.Lys273Arg) | |
1 | g.7663377A>T | CA338121353 | CAMTA1 | c.830A>T (p.Lys277Met) c.*681A>T (n.*681A>T) c.740A>T (p.Lys247Met) c.758A>T (p.Lys253Met) c.*599A>T (n.*599A>T) c.818A>T (p.Lys273Met) | |
1 | g.7663378G>A | CA566307 | CAMTA1 | c.831G>A (p.Lys277=) c.*682G>A (n.*682G>A) c.741G>A (p.Lys247=) c.759G>A (p.Lys253=) c.*600G>A (n.*600G>A) c.819G>A (p.Lys273=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663378G>C | CA338121358 | CAMTA1 | c.831G>C (p.Lys277Asn) c.*682G>C (n.*682G>C) c.741G>C (p.Lys247Asn) c.759G>C (p.Lys253Asn) c.*600G>C (n.*600G>C) c.819G>C (p.Lys273Asn) | |
1 | g.7663378G= | CA1152023591 | CAMTA1 | c.831G= (p.Lys277=) c.*682G= (n.*682G=) c.741G= (p.Lys247=) c.759G= (p.Lys253=) c.*600G= (n.*600G=) c.819G= (p.Lys273=) | |
1 | g.7663378G>T | CA338121359 | CAMTA1 | c.831G>T (p.Lys277Asn) c.*682G>T (n.*682G>T) c.741G>T (p.Lys247Asn) c.759G>T (p.Lys253Asn) c.*600G>T (n.*600G>T) c.819G>T (p.Lys273Asn) | |
1 | g.7663379T>A | CA338121361 | CAMTA1 | c.832T>A (p.Cys278Ser) c.*683T>A (n.*683T>A) c.742T>A (p.Cys248Ser) c.760T>A (p.Cys254Ser) c.*601T>A (n.*601T>A) c.820T>A (p.Cys274Ser) | |
1 | g.7663379T>C | CA338121362 | CAMTA1 | c.832T>C (p.Cys278Arg) c.*683T>C (n.*683T>C) c.742T>C (p.Cys248Arg) c.760T>C (p.Cys254Arg) c.*601T>C (n.*601T>C) c.820T>C (p.Cys274Arg) | gnomAD v4 |
1 | g.7663379T>G | CA338121360 | CAMTA1 | c.832T>G (p.Cys278Gly) c.*683T>G (n.*683T>G) c.742T>G (p.Cys248Gly) c.760T>G (p.Cys254Gly) c.*601T>G (n.*601T>G) c.820T>G (p.Cys274Gly) | |
1 | g.7663380G>A | CA338121372 | CAMTA1 | c.833G>A (p.Cys278Tyr) c.*684G>A (n.*684G>A) c.743G>A (p.Cys248Tyr) c.761G>A (p.Cys254Tyr) c.*602G>A (n.*602G>A) c.821G>A (p.Cys274Tyr) | dbSNP |
1 | g.7663380G>C | CA338121365 | CAMTA1 | c.833G>C (p.Cys278Ser) c.*684G>C (n.*684G>C) c.743G>C (p.Cys248Ser) c.761G>C (p.Cys254Ser) c.*602G>C (n.*602G>C) c.821G>C (p.Cys274Ser) | ClinVar |
1 | g.7663380G>T | CA338121375 | CAMTA1 | c.833G>T (p.Cys278Phe) c.*684G>T (n.*684G>T) c.743G>T (p.Cys248Phe) c.761G>T (p.Cys254Phe) c.*602G>T (n.*602G>T) c.821G>T (p.Cys274Phe) | gnomAD v4 |
1 | g.7663381T>A | CA566308 | CAMTA1 | c.834T>A (p.Cys278Ter) c.*685T>A (n.*685T>A) c.744T>A (p.Cys248Ter) c.762T>A (p.Cys254Ter) c.*603T>A (n.*603T>A) c.822T>A (p.Cys274Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663381T>C | CA416026338 | CAMTA1 | c.834T>C (p.Cys278=) c.*685T>C (n.*685T>C) c.744T>C (p.Cys248=) c.762T>C (p.Cys254=) c.*603T>C (n.*603T>C) c.822T>C (p.Cys274=) | |
1 | g.7663381T>G | CA338121384 | CAMTA1 | c.834T>G (p.Cys278Trp) c.*685T>G (n.*685T>G) c.744T>G (p.Cys248Trp) c.762T>G (p.Cys254Trp) c.*603T>G (n.*603T>G) c.822T>G (p.Cys274Trp) | |
1 | g.7663381T= | CA1152023594 | CAMTA1 | c.834T= (p.Cys278=) c.*685T= (n.*685T=) c.744T= (p.Cys248=) c.762T= (p.Cys254=) c.*603T= (n.*603T=) c.822T= (p.Cys274=) | |
1 | g.7663382A>C | CA338121387 | CAMTA1 | c.835A>C (p.Asn279His) c.*686A>C (n.*686A>C) c.745A>C (p.Asn249His) c.763A>C (p.Asn255His) c.*604A>C (n.*604A>C) c.823A>C (p.Asn275His) | |
1 | g.7663382A>G | CA338121388 | CAMTA1 | c.835A>G (p.Asn279Asp) c.*686A>G (n.*686A>G) c.745A>G (p.Asn249Asp) c.763A>G (p.Asn255Asp) c.*604A>G (n.*604A>G) c.823A>G (p.Asn275Asp) | |
1 | g.7663382A>T | CA338121404 | CAMTA1 | c.835A>T (p.Asn279Tyr) c.*686A>T (n.*686A>T) c.745A>T (p.Asn249Tyr) c.763A>T (p.Asn255Tyr) c.*604A>T (n.*604A>T) c.823A>T (p.Asn275Tyr) | |
1 | g.7663383A>C | CA338121409 | CAMTA1 | c.836A>C (p.Asn279Thr) c.*687A>C (n.*687A>C) c.746A>C (p.Asn249Thr) c.764A>C (p.Asn255Thr) c.*605A>C (n.*605A>C) c.824A>C (p.Asn275Thr) | |
1 | g.7663383A>G | CA338121410 | CAMTA1 | c.836A>G (p.Asn279Ser) c.*687A>G (n.*687A>G) c.746A>G (p.Asn249Ser) c.764A>G (p.Asn255Ser) c.*605A>G (n.*605A>G) c.824A>G (p.Asn275Ser) | gnomAD v4 |
1 | g.7663383A>T | CA338121413 | CAMTA1 | c.836A>T (p.Asn279Ile) c.*687A>T (n.*687A>T) c.746A>T (p.Asn249Ile) c.764A>T (p.Asn255Ile) c.*605A>T (n.*605A>T) c.824A>T (p.Asn275Ile) | |
1 | g.7663384C>A | CA338121416 | CAMTA1 | c.837C>A (p.Asn279Lys) c.*688C>A (n.*688C>A) c.747C>A (p.Asn249Lys) c.765C>A (p.Asn255Lys) c.*606C>A (n.*606C>A) c.825C>A (p.Asn275Lys) | gnomAD v4 |
1 | g.7663384C>G | CA338121419 | CAMTA1 | c.837C>G (p.Asn279Lys) c.*688C>G (n.*688C>G) c.747C>G (p.Asn249Lys) c.765C>G (p.Asn255Lys) c.*606C>G (n.*606C>G) c.825C>G (p.Asn275Lys) | |
1 | g.7663384C>T | CA416026339 | CAMTA1 | c.837C>T (p.Asn279=) c.*688C>T (n.*688C>T) c.747C>T (p.Asn249=) c.765C>T (p.Asn255=) c.*606C>T (n.*606C>T) c.825C>T (p.Asn275=) | |
1 | g.7663384_7663385delinsCA | CA1152023595 | CAMTA1 | c.837_838delinsCA (p.Asn279=) c.*688_*689delinsCA (n.*688_*689delinsCA) c.747_748delinsCA (p.Asn249=) c.765_766delinsCA (p.Asn255=) c.*606_*607delinsCA (n.*606_*607delinsCA) c.825_826delinsCA (p.Asn275=) | |
1 | g.7663385del | CA16617187 | CAMTA1 | c.838del (p.Ser280AlafsTer?) c.*689del (n.*689del) c.748del (p.Ser250AlafsTer?) c.766del (p.Ser256AlafsTer?) c.*607del (n.*607del) c.826del (p.Ser276AlafsTer?) | ClinVar dbSNP |
1 | g.7663385A= | CA1152023596 | CAMTA1 | c.838A= (p.Ser280=) c.*689A= (n.*689A=) c.748A= (p.Ser250=) c.766A= (p.Ser256=) c.*607A= (n.*607A=) c.826A= (p.Ser276=) | |
1 | g.7663385A>C | CA338121423 | CAMTA1 | c.838A>C (p.Ser280Arg) c.*689A>C (n.*689A>C) c.748A>C (p.Ser250Arg) c.766A>C (p.Ser256Arg) c.*607A>C (n.*607A>C) c.826A>C (p.Ser276Arg) | |
1 | g.7663385A>G | CA17243760 | CAMTA1 | c.838A>G (p.Ser280Gly) c.*689A>G (n.*689A>G) c.748A>G (p.Ser250Gly) c.766A>G (p.Ser256Gly) c.*607A>G (n.*607A>G) c.826A>G (p.Ser276Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663385A>T | CA338121438 | CAMTA1 | c.838A>T (p.Ser280Cys) c.*689A>T (n.*689A>T) c.748A>T (p.Ser250Cys) c.766A>T (p.Ser256Cys) c.*607A>T (n.*607A>T) c.826A>T (p.Ser276Cys) | |
1 | g.7663386G>A | CA338121440 | CAMTA1 | c.839G>A (p.Ser280Asn) c.*690G>A (n.*690G>A) c.749G>A (p.Ser250Asn) c.767G>A (p.Ser256Asn) c.*608G>A (n.*608G>A) c.827G>A (p.Ser276Asn) | gnomAD v4 COSMIC |
1 | g.7663386G>C | CA338121442 | CAMTA1 | c.839G>C (p.Ser280Thr) c.*690G>C (n.*690G>C) c.749G>C (p.Ser250Thr) c.767G>C (p.Ser256Thr) c.*608G>C (n.*608G>C) c.827G>C (p.Ser276Thr) | |
1 | g.7663386G>T | CA338121441 | CAMTA1 | c.839G>T (p.Ser280Ile) c.*690G>T (n.*690G>T) c.749G>T (p.Ser250Ile) c.767G>T (p.Ser256Ile) c.*608G>T (n.*608G>T) c.827G>T (p.Ser276Ile) | |
1 | g.7663387C>A | CA338121443 | CAMTA1 | c.840C>A (p.Ser280Arg) c.*691C>A (n.*691C>A) c.750C>A (p.Ser250Arg) c.768C>A (p.Ser256Arg) c.*609C>A (n.*609C>A) c.828C>A (p.Ser276Arg) | |
1 | g.7663387C= | CA1152023597 | CAMTA1 | c.840C= (p.Ser280=) c.*691C= (n.*691C=) c.750C= (p.Ser250=) c.768C= (p.Ser256=) c.*609C= (n.*609C=) c.828C= (p.Ser276=) | |
1 | g.7663387C>G | CA338121444 | CAMTA1 | c.840C>G (p.Ser280Arg) c.*691C>G (n.*691C>G) c.750C>G (p.Ser250Arg) c.768C>G (p.Ser256Arg) c.*609C>G (n.*609C>G) c.828C>G (p.Ser276Arg) | |
1 | g.7663387C>T | CA17243766 | CAMTA1 | c.840C>T (p.Ser280=) c.*691C>T (n.*691C>T) c.750C>T (p.Ser250=) c.768C>T (p.Ser256=) c.*609C>T (n.*609C>T) c.828C>T (p.Ser276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663388G>A | CA566309 | CAMTA1 | c.841G>A (p.Ala281Thr) c.*692G>A (n.*692G>A) c.751G>A (p.Ala251Thr) c.769G>A (p.Ala257Thr) c.*610G>A (n.*610G>A) c.829G>A (p.Ala277Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663388G>C | CA338121450 | CAMTA1 | c.841G>C (p.Ala281Pro) c.*692G>C (n.*692G>C) c.751G>C (p.Ala251Pro) c.769G>C (p.Ala257Pro) c.*610G>C (n.*610G>C) c.829G>C (p.Ala277Pro) | |
1 | g.7663388G= | CA1148076711 | CAMTA1 | c.841G= (p.Ala281=) c.*692G= (n.*692G=) c.751G= (p.Ala251=) c.769G= (p.Ala257=) c.*610G= (n.*610G=) c.829G= (p.Ala277=) | |
1 | g.7663388G>T | CA338121451 | CAMTA1 | c.841G>T (p.Ala281Ser) c.*692G>T (n.*692G>T) c.751G>T (p.Ala251Ser) c.769G>T (p.Ala257Ser) c.*610G>T (n.*610G>T) c.829G>T (p.Ala277Ser) | gnomAD v4 |
1 | g.7663389C>A | CA338121454 | CAMTA1 | c.842C>A (p.Ala281Asp) c.*693C>A (n.*693C>A) c.752C>A (p.Ala251Asp) c.770C>A (p.Ala257Asp) c.*611C>A (n.*611C>A) c.830C>A (p.Ala277Asp) | |
1 | g.7663389C= | CA1152023598 | CAMTA1 | c.842C= (p.Ala281=) c.*693C= (n.*693C=) c.752C= (p.Ala251=) c.770C= (p.Ala257=) c.*611C= (n.*611C=) c.830C= (p.Ala277=) | |
1 | g.7663389C>G | CA338121456 | CAMTA1 | c.842C>G (p.Ala281Gly) c.*693C>G (n.*693C>G) c.752C>G (p.Ala251Gly) c.770C>G (p.Ala257Gly) c.*611C>G (n.*611C>G) c.830C>G (p.Ala277Gly) | |
1 | g.7663389C>T | CA338121459 | CAMTA1 | c.842C>T (p.Ala281Val) c.*693C>T (n.*693C>T) c.752C>T (p.Ala251Val) c.770C>T (p.Ala257Val) c.*611C>T (n.*611C>T) c.830C>T (p.Ala277Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663390C>A | CA416026340 | CAMTA1 | c.843C>A (p.Ala281=) c.*694C>A (n.*694C>A) c.753C>A (p.Ala251=) c.771C>A (p.Ala257=) c.*612C>A (n.*612C>A) c.831C>A (p.Ala277=) | |
1 | g.7663390C>G | CA416026341 | CAMTA1 | c.843C>G (p.Ala281=) c.*694C>G (n.*694C>G) c.753C>G (p.Ala251=) c.771C>G (p.Ala257=) c.*612C>G (n.*612C>G) c.831C>G (p.Ala277=) | |
1 | g.7663390C>T | CA416026342 | CAMTA1 | c.843C>T (p.Ala281=) c.*694C>T (n.*694C>T) c.753C>T (p.Ala251=) c.771C>T (p.Ala257=) c.*612C>T (n.*612C>T) c.831C>T (p.Ala277=) | |
1 | g.7663391A>C | CA338121462 | CAMTA1 | c.844A>C (p.Lys282Gln) c.*695A>C (n.*695A>C) c.754A>C (p.Lys252Gln) c.772A>C (p.Lys258Gln) c.*613A>C (n.*613A>C) c.832A>C (p.Lys278Gln) | |
1 | g.7663391A>G | CA338121465 | CAMTA1 | c.844A>G (p.Lys282Glu) c.*695A>G (n.*695A>G) c.754A>G (p.Lys252Glu) c.772A>G (p.Lys258Glu) c.*613A>G (n.*613A>G) c.832A>G (p.Lys278Glu) | |
1 | g.7663391A>T | CA338121476 | CAMTA1 | c.844A>T (p.Lys282Ter) c.*695A>T (n.*695A>T) c.754A>T (p.Lys252Ter) c.772A>T (p.Lys258Ter) c.*613A>T (n.*613A>T) c.832A>T (p.Lys278Ter) | |
1 | g.7663392A>C | CA338121492 | CAMTA1 | c.845A>C (p.Lys282Thr) c.*696A>C (n.*696A>C) c.755A>C (p.Lys252Thr) c.773A>C (p.Lys258Thr) c.*614A>C (n.*614A>C) c.833A>C (p.Lys278Thr) | |
1 | g.7663392A>G | CA338121489 | CAMTA1 | c.845A>G (p.Lys282Arg) c.*696A>G (n.*696A>G) c.755A>G (p.Lys252Arg) c.773A>G (p.Lys258Arg) c.*614A>G (n.*614A>G) c.833A>G (p.Lys278Arg) | |
1 | g.7663392A>T | CA338121479 | CAMTA1 | c.845A>T (p.Lys282Ile) c.*696A>T (n.*696A>T) c.755A>T (p.Lys252Ile) c.773A>T (p.Lys258Ile) c.*614A>T (n.*614A>T) c.833A>T (p.Lys278Ile) | |
1 | g.7663393A>C | CA338121496 | CAMTA1 | c.846A>C (p.Lys282Asn) c.*697A>C (n.*697A>C) c.756A>C (p.Lys252Asn) c.774A>C (p.Lys258Asn) c.*615A>C (n.*615A>C) c.834A>C (p.Lys278Asn) | |
1 | g.7663393A>G | CA416026343 | CAMTA1 | c.846A>G (p.Lys282=) c.*697A>G (n.*697A>G) c.756A>G (p.Lys252=) c.774A>G (p.Lys258=) c.*615A>G (n.*615A>G) c.834A>G (p.Lys278=) | |
1 | g.7663393A>T | CA338121495 | CAMTA1 | c.846A>T (p.Lys282Asn) c.*697A>T (n.*697A>T) c.756A>T (p.Lys252Asn) c.774A>T (p.Lys258Asn) c.*615A>T (n.*615A>T) c.834A>T (p.Lys278Asn) | |
1 | g.7663394C>A | CA338121499 | CAMTA1 | c.847C>A (p.His283Asn) c.*698C>A (n.*698C>A) c.757C>A (p.His253Asn) c.775C>A (p.His259Asn) c.*616C>A (n.*616C>A) c.835C>A (p.His279Asn) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663394C= | CA1152023599 | CAMTA1 | c.847C= (p.His283=) c.*698C= (n.*698C=) c.757C= (p.His253=) c.775C= (p.His259=) c.*616C= (n.*616C=) c.835C= (p.His279=) | |
1 | g.7663394C>G | CA338121503 | CAMTA1 | c.847C>G (p.His283Asp) c.*698C>G (n.*698C>G) c.757C>G (p.His253Asp) c.775C>G (p.His259Asp) c.*616C>G (n.*616C>G) c.835C>G (p.His279Asp) | |
1 | g.7663394C>T | CA338121505 | CAMTA1 | c.847C>T (p.His283Tyr) c.*698C>T (n.*698C>T) c.757C>T (p.His253Tyr) c.775C>T (p.His259Tyr) c.*616C>T (n.*616C>T) c.835C>T (p.His279Tyr) | gnomAD v4 |
1 | g.7663395A>C | CA338121513 | CAMTA1 | c.848A>C (p.His283Pro) c.*699A>C (n.*699A>C) c.758A>C (p.His253Pro) c.776A>C (p.His259Pro) c.*617A>C (n.*617A>C) c.836A>C (p.His279Pro) | |
1 | g.7663395A>G | CA338121515 | CAMTA1 | c.848A>G (p.His283Arg) c.*699A>G (n.*699A>G) c.758A>G (p.His253Arg) c.776A>G (p.His259Arg) c.*617A>G (n.*617A>G) c.836A>G (p.His279Arg) | |
1 | g.7663395A>T | CA338121518 | CAMTA1 | c.848A>T (p.His283Leu) c.*699A>T (n.*699A>T) c.758A>T (p.His253Leu) c.776A>T (p.His259Leu) c.*617A>T (n.*617A>T) c.836A>T (p.His279Leu) | |
1 | g.7663396C>A | CA338121521 | CAMTA1 | c.849C>A (p.His283Gln) c.*700C>A (n.*700C>A) c.759C>A (p.His253Gln) c.777C>A (p.His259Gln) c.*618C>A (n.*618C>A) c.837C>A (p.His279Gln) | gnomAD v4 |
1 | g.7663396C>G | CA338121523 | CAMTA1 | c.849C>G (p.His283Gln) c.*700C>G (n.*700C>G) c.759C>G (p.His253Gln) c.777C>G (p.His259Gln) c.*618C>G (n.*618C>G) c.837C>G (p.His279Gln) | |
1 | g.7663396C>T | CA416026344 | CAMTA1 | c.849C>T (p.His283=) c.*700C>T (n.*700C>T) c.759C>T (p.His253=) c.777C>T (p.His259=) c.*618C>T (n.*618C>T) c.837C>T (p.His279=) | |
1 | g.7663397C>A | CA338121526 | CAMTA1 | c.850C>A (p.Arg284Ser) c.*701C>A (n.*701C>A) c.760C>A (p.Arg254Ser) c.778C>A (p.Arg260Ser) c.*619C>A (n.*619C>A) c.838C>A (p.Arg280Ser) | gnomAD v4 |
1 | g.7663397C= | CA1152023600 | CAMTA1 | c.850C= (p.Arg284=) c.*701C= (n.*701C=) c.760C= (p.Arg254=) c.778C= (p.Arg260=) c.*619C= (n.*619C=) c.838C= (p.Arg280=) | |
1 | g.7663397C>G | CA338121528 | CAMTA1 | c.850C>G (p.Arg284Gly) c.*701C>G (n.*701C>G) c.760C>G (p.Arg254Gly) c.778C>G (p.Arg260Gly) c.*619C>G (n.*619C>G) c.838C>G (p.Arg280Gly) | dbSNP gnomAD v4 |
1 | g.7663397C>T | CA338121530 | CAMTA1 | c.850C>T (p.Arg284Cys) c.*701C>T (n.*701C>T) c.760C>T (p.Arg254Cys) c.778C>T (p.Arg260Cys) c.*619C>T (n.*619C>T) c.838C>T (p.Arg280Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663398G>A | CA566311 | CAMTA1 | c.851G>A (p.Arg284His) c.*702G>A (n.*702G>A) c.761G>A (p.Arg254His) c.779G>A (p.Arg260His) c.*620G>A (n.*620G>A) c.839G>A (p.Arg280His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663398G>C | CA338121536 | CAMTA1 | c.851G>C (p.Arg284Pro) c.*702G>C (n.*702G>C) c.761G>C (p.Arg254Pro) c.779G>C (p.Arg260Pro) c.*620G>C (n.*620G>C) c.839G>C (p.Arg280Pro) | |
1 | g.7663398G= | CA1152023601 | CAMTA1 | c.851G= (p.Arg284=) c.*702G= (n.*702G=) c.761G= (p.Arg254=) c.779G= (p.Arg260=) c.*620G= (n.*620G=) c.839G= (p.Arg280=) | |
1 | g.7663398G>T | CA566310 | CAMTA1 | c.851G>T (p.Arg284Leu) c.*702G>T (n.*702G>T) c.761G>T (p.Arg254Leu) c.779G>T (p.Arg260Leu) c.*620G>T (n.*620G>T) c.839G>T (p.Arg280Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663399C>A | CA416026347 | CAMTA1 | c.852C>A (p.Arg284=) c.*703C>A (n.*703C>A) c.762C>A (p.Arg254=) c.780C>A (p.Arg260=) c.*621C>A (n.*621C>A) c.840C>A (p.Arg280=) | |
1 | g.7663399C>G | CA416026346 | CAMTA1 | c.852C>G (p.Arg284=) c.*703C>G (n.*703C>G) c.762C>G (p.Arg254=) c.780C>G (p.Arg260=) c.*621C>G (n.*621C>G) c.840C>G (p.Arg280=) | |
1 | g.7663399C>T | CA416026345 | CAMTA1 | c.852C>T (p.Arg284=) c.*703C>T (n.*703C>T) c.762C>T (p.Arg254=) c.780C>T (p.Arg260=) c.*621C>T (n.*621C>T) c.840C>T (p.Arg280=) | COSMIC |
1 | g.7663400A>C | CA338121538 | CAMTA1 | c.853A>C (p.Ile285Leu) c.*704A>C (n.*704A>C) c.763A>C (p.Ile255Leu) c.781A>C (p.Ile261Leu) c.*622A>C (n.*622A>C) c.841A>C (p.Ile281Leu) | |
1 | g.7663400A>G | CA338121539 | CAMTA1 | c.853A>G (p.Ile285Val) c.*704A>G (n.*704A>G) c.763A>G (p.Ile255Val) c.781A>G (p.Ile261Val) c.*622A>G (n.*622A>G) c.841A>G (p.Ile281Val) | |
1 | g.7663400A>T | CA338121541 | CAMTA1 | c.853A>T (p.Ile285Phe) c.*704A>T (n.*704A>T) c.763A>T (p.Ile255Phe) c.781A>T (p.Ile261Phe) c.*622A>T (n.*622A>T) c.841A>T (p.Ile281Phe) | |
1 | g.7663401T>A | CA338121545 | CAMTA1 | c.854T>A (p.Ile285Asn) c.*705T>A (n.*705T>A) c.764T>A (p.Ile255Asn) c.782T>A (p.Ile261Asn) c.*623T>A (n.*623T>A) c.842T>A (p.Ile281Asn) | |
1 | g.7663401T>C | CA338121547 | CAMTA1 | c.854T>C (p.Ile285Thr) c.*705T>C (n.*705T>C) c.764T>C (p.Ile255Thr) c.782T>C (p.Ile261Thr) c.*623T>C (n.*623T>C) c.842T>C (p.Ile281Thr) | |
1 | g.7663401T>G | CA338121555 | CAMTA1 | c.854T>G (p.Ile285Ser) c.*705T>G (n.*705T>G) c.764T>G (p.Ile255Ser) c.782T>G (p.Ile261Ser) c.*623T>G (n.*623T>G) c.842T>G (p.Ile281Ser) | |
1 | g.7663402C>A | CA416026348 | CAMTA1 | c.855C>A (p.Ile285=) c.*706C>A (n.*706C>A) c.765C>A (p.Ile255=) c.783C>A (p.Ile261=) c.*624C>A (n.*624C>A) c.843C>A (p.Ile281=) | |
1 | g.7663402C>G | CA338121558 | CAMTA1 | c.855C>G (p.Ile285Met) c.*706C>G (n.*706C>G) c.765C>G (p.Ile255Met) c.783C>G (p.Ile261Met) c.*624C>G (n.*624C>G) c.843C>G (p.Ile281Met) | |
1 | g.7663402C>T | CA416026349 | CAMTA1 | c.855C>T (p.Ile285=) c.*706C>T (n.*706C>T) c.765C>T (p.Ile255=) c.783C>T (p.Ile261=) c.*624C>T (n.*624C>T) c.843C>T (p.Ile281=) | |
1 | g.7663403A>C | CA338121561 | CAMTA1 | c.856A>C (p.Ile286Leu) c.*707A>C (n.*707A>C) c.766A>C (p.Ile256Leu) c.784A>C (p.Ile262Leu) c.*625A>C (n.*625A>C) c.844A>C (p.Ile282Leu) | |
1 | g.7663403A>G | CA338121562 | CAMTA1 | c.856A>G (p.Ile286Val) c.*707A>G (n.*707A>G) c.766A>G (p.Ile256Val) c.784A>G (p.Ile262Val) c.*625A>G (n.*625A>G) c.844A>G (p.Ile282Val) | |
1 | g.7663403A>T | CA338121563 | CAMTA1 | c.856A>T (p.Ile286Phe) c.*707A>T (n.*707A>T) c.766A>T (p.Ile256Phe) c.784A>T (p.Ile262Phe) c.*625A>T (n.*625A>T) c.844A>T (p.Ile282Phe) | |
1 | g.7663404T>A | CA338121564 | CAMTA1 | c.857T>A (p.Ile286Asn) c.*708T>A (n.*708T>A) c.767T>A (p.Ile256Asn) c.785T>A (p.Ile262Asn) c.*626T>A (n.*626T>A) c.845T>A (p.Ile282Asn) | gnomAD v4 |
1 | g.7663404T>C | CA338121565 | CAMTA1 | c.857T>C (p.Ile286Thr) c.*708T>C (n.*708T>C) c.767T>C (p.Ile256Thr) c.785T>C (p.Ile262Thr) c.*626T>C (n.*626T>C) c.845T>C (p.Ile282Thr) | gnomAD v4 |
1 | g.7663404T>G | CA338121568 | CAMTA1 | c.857T>G (p.Ile286Ser) c.*708T>G (n.*708T>G) c.767T>G (p.Ile256Ser) c.785T>G (p.Ile262Ser) c.*626T>G (n.*626T>G) c.845T>G (p.Ile282Ser) | |
1 | g.7663405C>A | CA416026350 | CAMTA1 | c.858C>A (p.Ile286=) c.*709C>A (n.*709C>A) c.768C>A (p.Ile256=) c.786C>A (p.Ile262=) c.*627C>A (n.*627C>A) c.846C>A (p.Ile282=) | gnomAD v4 COSMIC |
1 | g.7663405C>G | CA338121569 | CAMTA1 | c.858C>G (p.Ile286Met) c.*709C>G (n.*709C>G) c.768C>G (p.Ile256Met) c.786C>G (p.Ile262Met) c.*627C>G (n.*627C>G) c.846C>G (p.Ile282Met) | |
1 | g.7663405C>T | CA416026351 | CAMTA1 | c.858C>T (p.Ile286=) c.*709C>T (n.*709C>T) c.768C>T (p.Ile256=) c.786C>T (p.Ile262=) c.*627C>T (n.*627C>T) c.846C>T (p.Ile282=) | COSMIC |
1 | g.7663406T>A | CA338121573 | CAMTA1 | c.859T>A (p.Ser287Thr) c.*710T>A (n.*710T>A) c.769T>A (p.Ser257Thr) c.787T>A (p.Ser263Thr) c.*628T>A (n.*628T>A) c.847T>A (p.Ser283Thr) | |
1 | g.7663406T>C | CA338121577 | CAMTA1 | c.859T>C (p.Ser287Pro) c.*710T>C (n.*710T>C) c.769T>C (p.Ser257Pro) c.787T>C (p.Ser263Pro) c.*628T>C (n.*628T>C) c.847T>C (p.Ser283Pro) | gnomAD v4 |
1 | g.7663406T>G | CA338121571 | CAMTA1 | c.859T>G (p.Ser287Ala) c.*710T>G (n.*710T>G) c.769T>G (p.Ser257Ala) c.787T>G (p.Ser263Ala) c.*628T>G (n.*628T>G) c.847T>G (p.Ser283Ala) | |
1 | g.7663407C>A | CA338121579 | CAMTA1 | c.860C>A (p.Ser287Ter) c.*711C>A (n.*711C>A) c.770C>A (p.Ser257Ter) c.788C>A (p.Ser263Ter) c.*629C>A (n.*629C>A) c.848C>A (p.Ser283Ter) | |
1 | g.7663407C= | CA1152023602 | CAMTA1 | c.860C= (p.Ser287=) c.*711C= (n.*711C=) c.770C= (p.Ser257=) c.788C= (p.Ser263=) c.*629C= (n.*629C=) c.848C= (p.Ser283=) | |
1 | g.7663407C>G | CA338121585 | CAMTA1 | c.860C>G (p.Ser287Trp) c.*711C>G (n.*711C>G) c.770C>G (p.Ser257Trp) c.788C>G (p.Ser263Trp) c.*629C>G (n.*629C>G) c.848C>G (p.Ser283Trp) | COSMIC COSMIC |
1 | g.7663407C>T | CA338121582 | CAMTA1 | c.860C>T (p.Ser287Leu) c.*711C>T (n.*711C>T) c.770C>T (p.Ser257Leu) c.788C>T (p.Ser263Leu) c.*629C>T (n.*629C>T) c.848C>T (p.Ser283Leu) | dbSNP gnomAD v4 COSMIC |
1 | g.7663408G>A | CA566312 | CAMTA1 | c.861G>A (p.Ser287=) c.*712G>A (n.*712G>A) c.771G>A (p.Ser257=) c.789G>A (p.Ser263=) c.*630G>A (n.*630G>A) c.849G>A (p.Ser283=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663408G>C | CA416026352 | CAMTA1 | c.861G>C (p.Ser287=) c.*712G>C (n.*712G>C) c.771G>C (p.Ser257=) c.789G>C (p.Ser263=) c.*630G>C (n.*630G>C) c.849G>C (p.Ser283=) | dbSNP |
1 | g.7663408G= | CA1152023603 | CAMTA1 | c.861G= (p.Ser287=) c.*712G= (n.*712G=) c.771G= (p.Ser257=) c.789G= (p.Ser263=) c.*630G= (n.*630G=) c.849G= (p.Ser283=) | |
1 | g.7663408G>T | CA416026353 | CAMTA1 | c.861G>T (p.Ser287=) c.*712G>T (n.*712G>T) c.771G>T (p.Ser257=) c.789G>T (p.Ser263=) c.*630G>T (n.*630G>T) c.849G>T (p.Ser283=) | gnomAD v4 |
1 | g.7663409C>A | CA338121590 | CAMTA1 | c.862C>A (p.Pro288Thr) c.*713C>A (n.*713C>A) c.772C>A (p.Pro258Thr) c.790C>A (p.Pro264Thr) c.*631C>A (n.*631C>A) c.850C>A (p.Pro284Thr) | gnomAD v4 |
1 | g.7663409C>G | CA338121593 | CAMTA1 | c.862C>G (p.Pro288Ala) c.*713C>G (n.*713C>G) c.772C>G (p.Pro258Ala) c.790C>G (p.Pro264Ala) c.*631C>G (n.*631C>G) c.850C>G (p.Pro284Ala) | |
1 | g.7663409C>T | CA338121602 | CAMTA1 | c.862C>T (p.Pro288Ser) c.*713C>T (n.*713C>T) c.772C>T (p.Pro258Ser) c.790C>T (p.Pro264Ser) c.*631C>T (n.*631C>T) c.850C>T (p.Pro284Ser) | |
1 | g.7663410C>A | CA338121606 | CAMTA1 | c.863C>A (p.Pro288His) c.*714C>A (n.*714C>A) c.773C>A (p.Pro258His) c.791C>A (p.Pro264His) c.*632C>A (n.*632C>A) c.851C>A (p.Pro284His) | gnomAD v4 |
1 | g.7663410C>G | CA338121614 | CAMTA1 | c.863C>G (p.Pro288Arg) c.*714C>G (n.*714C>G) c.773C>G (p.Pro258Arg) c.791C>G (p.Pro264Arg) c.*632C>G (n.*632C>G) c.851C>G (p.Pro284Arg) | |
1 | g.7663410C>T | CA338121615 | CAMTA1 | c.863C>T (p.Pro288Leu) c.*714C>T (n.*714C>T) c.773C>T (p.Pro258Leu) c.791C>T (p.Pro264Leu) c.*632C>T (n.*632C>T) c.851C>T (p.Pro284Leu) | |
1 | g.7663411C>A | CA416026354 | CAMTA1 | c.864C>A (p.Pro288=) c.*715C>A (n.*715C>A) c.774C>A (p.Pro258=) c.792C>A (p.Pro264=) c.*633C>A (n.*633C>A) c.852C>A (p.Pro284=) | |
1 | g.7663411C= | CA1152023604 | CAMTA1 | c.864C= (p.Pro288=) c.*715C= (n.*715C=) c.774C= (p.Pro258=) c.792C= (p.Pro264=) c.*633C= (n.*633C=) c.852C= (p.Pro284=) | |
1 | g.7663411C>G | CA416026355 | CAMTA1 | c.864C>G (p.Pro288=) c.*715C>G (n.*715C>G) c.774C>G (p.Pro258=) c.792C>G (p.Pro264=) c.*633C>G (n.*633C>G) c.852C>G (p.Pro284=) | |
1 | g.7663411C>T | CA416026356 | CAMTA1 | c.864C>T (p.Pro288=) c.*715C>T (n.*715C>T) c.774C>T (p.Pro258=) c.792C>T (p.Pro264=) c.*633C>T (n.*633C>T) c.852C>T (p.Pro284=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663412A>C | CA338121616 | CAMTA1 | c.865A>C (p.Lys289Gln) c.*716A>C (n.*716A>C) c.775A>C (p.Lys259Gln) c.793A>C (p.Lys265Gln) c.*634A>C (n.*634A>C) c.853A>C (p.Lys285Gln) | |
1 | g.7663412A>G | CA338121617 | CAMTA1 | c.865A>G (p.Lys289Glu) c.*716A>G (n.*716A>G) c.775A>G (p.Lys259Glu) c.793A>G (p.Lys265Glu) c.*634A>G (n.*634A>G) c.853A>G (p.Lys285Glu) | |
1 | g.7663412A>T | CA338121618 | CAMTA1 | c.865A>T (p.Lys289Ter) c.*716A>T (n.*716A>T) c.775A>T (p.Lys259Ter) c.793A>T (p.Lys265Ter) c.*634A>T (n.*634A>T) c.853A>T (p.Lys285Ter) | |
1 | g.7663413del | CA2643031703 | CAMTA1 | c.866del (p.Lys289ArgfsTer?) c.*717del (n.*717del) c.776del (p.Lys259ArgfsTer?) c.794del (p.Lys265ArgfsTer?) c.*635del (n.*635del) c.854del (p.Lys285ArgfsTer?) | gnomAD v4 |
1 | g.7663413A>C | CA338121625 | CAMTA1 | c.866A>C (p.Lys289Thr) c.*717A>C (n.*717A>C) c.776A>C (p.Lys259Thr) c.794A>C (p.Lys265Thr) c.*635A>C (n.*635A>C) c.854A>C (p.Lys285Thr) | |
1 | g.7663413A>G | CA338121623 | CAMTA1 | c.866A>G (p.Lys289Arg) c.*717A>G (n.*717A>G) c.776A>G (p.Lys259Arg) c.794A>G (p.Lys265Arg) c.*635A>G (n.*635A>G) c.854A>G (p.Lys285Arg) | |
1 | g.7663413A>T | CA338121621 | CAMTA1 | c.866A>T (p.Lys289Met) c.*717A>T (n.*717A>T) c.776A>T (p.Lys259Met) c.794A>T (p.Lys265Met) c.*635A>T (n.*635A>T) c.854A>T (p.Lys285Met) | |
1 | g.7663414G>A | CA17243836 | CAMTA1 | c.867G>A (p.Lys289=) c.*718G>A (n.*718G>A) c.777G>A (p.Lys259=) c.795G>A (p.Lys265=) c.*636G>A (n.*636G>A) c.855G>A (p.Lys285=) | dbSNP |
1 | g.7663414G>C | CA338121629 | CAMTA1 | c.867G>C (p.Lys289Asn) c.*718G>C (n.*718G>C) c.777G>C (p.Lys259Asn) c.795G>C (p.Lys265Asn) c.*636G>C (n.*636G>C) c.855G>C (p.Lys285Asn) | gnomAD v4 |
1 | g.7663414G= | CA1152023605 | CAMTA1 | c.867G= (p.Lys289=) c.*718G= (n.*718G=) c.777G= (p.Lys259=) c.795G= (p.Lys265=) c.*636G= (n.*636G=) c.855G= (p.Lys285=) | |
1 | g.7663414G>T | CA338121631 | CAMTA1 | c.867G>T (p.Lys289Asn) c.*718G>T (n.*718G>T) c.777G>T (p.Lys259Asn) c.795G>T (p.Lys265Asn) c.*636G>T (n.*636G>T) c.855G>T (p.Lys285Asn) | gnomAD v4 |
1 | g.7663415G>A | CA338121635 | CAMTA1 | c.868G>A (p.Val290Met) c.*719G>A (n.*719G>A) c.778G>A (p.Val260Met) c.796G>A (p.Val266Met) c.*637G>A (n.*637G>A) c.856G>A (p.Val286Met) | |
1 | g.7663415G>C | CA338121639 | CAMTA1 | c.868G>C (p.Val290Leu) c.*719G>C (n.*719G>C) c.778G>C (p.Val260Leu) c.796G>C (p.Val266Leu) c.*637G>C (n.*637G>C) c.856G>C (p.Val286Leu) | |
1 | g.7663415G>T | CA338121644 | CAMTA1 | c.868G>T (p.Val290Leu) c.*719G>T (n.*719G>T) c.778G>T (p.Val260Leu) c.796G>T (p.Val266Leu) c.*637G>T (n.*637G>T) c.856G>T (p.Val286Leu) | |
1 | g.7663416T>A | CA338121647 | CAMTA1 | c.869T>A (p.Val290Glu) c.*720T>A (n.*720T>A) c.779T>A (p.Val260Glu) c.797T>A (p.Val266Glu) c.*638T>A (n.*638T>A) c.857T>A (p.Val286Glu) | |
1 | g.7663416T>C | CA338121650 | CAMTA1 | c.869T>C (p.Val290Ala) c.*720T>C (n.*720T>C) c.779T>C (p.Val260Ala) c.797T>C (p.Val266Ala) c.*638T>C (n.*638T>C) c.857T>C (p.Val286Ala) | |
1 | g.7663416T>G | CA338121653 | CAMTA1 | c.869T>G (p.Val290Gly) c.*720T>G (n.*720T>G) c.779T>G (p.Val260Gly) c.797T>G (p.Val266Gly) c.*638T>G (n.*638T>G) c.857T>G (p.Val286Gly) | |
1 | g.7663417G>A | CA416026357 | CAMTA1 | c.870G>A (p.Val290=) c.*721G>A (n.*721G>A) c.780G>A (p.Val260=) c.798G>A (p.Val266=) c.*639G>A (n.*639G>A) c.858G>A (p.Val286=) | gnomAD v4 |
1 | g.7663417G>C | CA416026359 | CAMTA1 | c.870G>C (p.Val290=) c.*721G>C (n.*721G>C) c.780G>C (p.Val260=) c.798G>C (p.Val266=) c.*639G>C (n.*639G>C) c.858G>C (p.Val286=) | |
1 | g.7663417G>T | CA416026358 | CAMTA1 | c.870G>T (p.Val290=) c.*721G>T (n.*721G>T) c.780G>T (p.Val260=) c.798G>T (p.Val266=) c.*639G>T (n.*639G>T) c.858G>T (p.Val286=) | |
1 | g.7663418G>A | CA338121656 | CAMTA1 | c.871G>A (p.Glu291Lys) c.*722G>A (n.*722G>A) c.781G>A (p.Glu261Lys) c.799G>A (p.Glu267Lys) c.*640G>A (n.*640G>A) c.859G>A (p.Glu287Lys) | |
1 | g.7663418G>C | CA338121660 | CAMTA1 | c.871G>C (p.Glu291Gln) c.*722G>C (n.*722G>C) c.781G>C (p.Glu261Gln) c.799G>C (p.Glu267Gln) c.*640G>C (n.*640G>C) c.859G>C (p.Glu287Gln) | |
1 | g.7663418G>T | CA338121662 | CAMTA1 | c.871G>T (p.Glu291Ter) c.*722G>T (n.*722G>T) c.781G>T (p.Glu261Ter) c.799G>T (p.Glu267Ter) c.*640G>T (n.*640G>T) c.859G>T (p.Glu287Ter) | |
1 | g.7663419A= | CA1152023606 | CAMTA1 | c.872A= (p.Glu291=) c.*723A= (n.*723A=) c.782A= (p.Glu261=) c.800A= (p.Glu267=) c.*641A= (n.*641A=) c.860A= (p.Glu287=) | |
1 | g.7663419A>C | CA338121668 | CAMTA1 | c.872A>C (p.Glu291Ala) c.*723A>C (n.*723A>C) c.782A>C (p.Glu261Ala) c.800A>C (p.Glu267Ala) c.*641A>C (n.*641A>C) c.860A>C (p.Glu287Ala) | |
1 | g.7663419A>G | CA338121669 | CAMTA1 | c.872A>G (p.Glu291Gly) c.*723A>G (n.*723A>G) c.782A>G (p.Glu261Gly) c.800A>G (p.Glu267Gly) c.*641A>G (n.*641A>G) c.860A>G (p.Glu287Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663419A>T | CA338121666 | CAMTA1 | c.872A>T (p.Glu291Val) c.*723A>T (n.*723A>T) c.782A>T (p.Glu261Val) c.800A>T (p.Glu267Val) c.*641A>T (n.*641A>T) c.860A>T (p.Glu287Val) | |
1 | g.7663420G>A | CA17243839 | CAMTA1 | c.873G>A (p.Glu291=) c.*724G>A (n.*724G>A) c.783G>A (p.Glu261=) c.801G>A (p.Glu267=) c.*642G>A (n.*642G>A) c.861G>A (p.Glu287=) | dbSNP gnomAD v4 |
1 | g.7663420G>C | CA338121671 | CAMTA1 | c.873G>C (p.Glu291Asp) c.*724G>C (n.*724G>C) c.783G>C (p.Glu261Asp) c.801G>C (p.Glu267Asp) c.*642G>C (n.*642G>C) c.861G>C (p.Glu287Asp) | |
1 | g.7663420G= | CA1152023607 | CAMTA1 | c.873G= (p.Glu291=) c.*724G= (n.*724G=) c.783G= (p.Glu261=) c.801G= (p.Glu267=) c.*642G= (n.*642G=) c.861G= (p.Glu287=) | |
1 | g.7663420G>T | CA338121673 | CAMTA1 | c.873G>T (p.Glu291Asp) c.*724G>T (n.*724G>T) c.783G>T (p.Glu261Asp) c.801G>T (p.Glu267Asp) c.*642G>T (n.*642G>T) c.861G>T (p.Glu287Asp) | |
1 | g.7663421C>A | CA338121675 | CAMTA1 | c.874C>A (p.Pro292Thr) c.*725C>A (n.*725C>A) c.784C>A (p.Pro262Thr) c.802C>A (p.Pro268Thr) c.*643C>A (n.*643C>A) c.862C>A (p.Pro288Thr) | gnomAD v4 |
1 | g.7663421C>G | CA338121678 | CAMTA1 | c.874C>G (p.Pro292Ala) c.*725C>G (n.*725C>G) c.784C>G (p.Pro262Ala) c.802C>G (p.Pro268Ala) c.*643C>G (n.*643C>G) c.862C>G (p.Pro288Ala) | |
1 | g.7663421C>T | CA338121679 | CAMTA1 | c.874C>T (p.Pro292Ser) c.*725C>T (n.*725C>T) c.784C>T (p.Pro262Ser) c.802C>T (p.Pro268Ser) c.*643C>T (n.*643C>T) c.862C>T (p.Pro288Ser) | gnomAD v4 |
1 | g.7663422C>A | CA338121681 | CAMTA1 | c.875C>A (p.Pro292Gln) c.*726C>A (n.*726C>A) c.785C>A (p.Pro262Gln) c.803C>A (p.Pro268Gln) c.*644C>A (n.*644C>A) c.863C>A (p.Pro288Gln) | gnomAD v4 |
1 | g.7663422C= | CA1152023608 | CAMTA1 | c.875C= (p.Pro292=) c.*726C= (n.*726C=) c.785C= (p.Pro262=) c.803C= (p.Pro268=) c.*644C= (n.*644C=) c.863C= (p.Pro288=) | |
1 | g.7663422C>G | CA338121684 | CAMTA1 | c.875C>G (p.Pro292Arg) c.*726C>G (n.*726C>G) c.785C>G (p.Pro262Arg) c.803C>G (p.Pro268Arg) c.*644C>G (n.*644C>G) c.863C>G (p.Pro288Arg) | |
1 | g.7663422C>T | CA566313 | CAMTA1 | c.875C>T (p.Pro292Leu) c.*726C>T (n.*726C>T) c.785C>T (p.Pro262Leu) c.803C>T (p.Pro268Leu) c.*644C>T (n.*644C>T) c.863C>T (p.Pro288Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663423A>C | CA416026360 | CAMTA1 | c.876A>C (p.Pro292=) c.*727A>C (n.*727A>C) c.786A>C (p.Pro262=) c.804A>C (p.Pro268=) c.*645A>C (n.*645A>C) c.864A>C (p.Pro288=) | |
1 | g.7663423A>G | CA416026362 | CAMTA1 | c.876A>G (p.Pro292=) c.*727A>G (n.*727A>G) c.786A>G (p.Pro262=) c.804A>G (p.Pro268=) c.*645A>G (n.*645A>G) c.864A>G (p.Pro288=) | |
1 | g.7663423A>T | CA416026361 | CAMTA1 | c.876A>T (p.Pro292=) c.*727A>T (n.*727A>T) c.786A>T (p.Pro262=) c.804A>T (p.Pro268=) c.*645A>T (n.*645A>T) c.864A>T (p.Pro288=) | |
1 | g.7663424C>A | CA416026363 | CAMTA1 | c.877C>A (p.Arg293=) c.*728C>A (n.*728C>A) c.787C>A (p.Arg263=) c.805C>A (p.Arg269=) c.*646C>A (n.*646C>A) c.865C>A (p.Arg289=) | gnomAD v4 |
1 | g.7663424C= | CA1152023609 | CAMTA1 | c.877C= (p.Arg293=) c.*728C= (n.*728C=) c.787C= (p.Arg263=) c.805C= (p.Arg269=) c.*646C= (n.*646C=) c.865C= (p.Arg289=) | |
1 | g.7663424C>G | CA338121690 | CAMTA1 | c.877C>G (p.Arg293Gly) c.*728C>G (n.*728C>G) c.787C>G (p.Arg263Gly) c.805C>G (p.Arg269Gly) c.*646C>G (n.*646C>G) c.865C>G (p.Arg289Gly) | |
1 | g.7663424C>T | CA338121691 | CAMTA1 | c.877C>T (p.Arg293Trp) c.*728C>T (n.*728C>T) c.787C>T (p.Arg263Trp) c.805C>T (p.Arg269Trp) c.*646C>T (n.*646C>T) c.865C>T (p.Arg289Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.7663425G>A | CA566314 | CAMTA1 | c.878G>A (p.Arg293Gln) c.*729G>A (n.*729G>A) c.788G>A (p.Arg263Gln) c.806G>A (p.Arg269Gln) c.*647G>A (n.*647G>A) c.866G>A (p.Arg289Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663425G>C | CA338121698 | CAMTA1 | c.878G>C (p.Arg293Pro) c.*729G>C (n.*729G>C) c.788G>C (p.Arg263Pro) c.806G>C (p.Arg269Pro) c.*647G>C (n.*647G>C) c.866G>C (p.Arg289Pro) | |
1 | g.7663425G= | CA1152023610 | CAMTA1 | c.878G= (p.Arg293=) c.*729G= (n.*729G=) c.788G= (p.Arg263=) c.806G= (p.Arg269=) c.*647G= (n.*647G=) c.866G= (p.Arg289=) | |
1 | g.7663425G>T | CA338121701 | CAMTA1 | c.878G>T (p.Arg293Leu) c.*729G>T (n.*729G>T) c.788G>T (p.Arg263Leu) c.806G>T (p.Arg269Leu) c.*647G>T (n.*647G>T) c.866G>T (p.Arg289Leu) | gnomAD v4 |
1 | g.7663426G>A | CA416026364 | CAMTA1 | c.879G>A (p.Arg293=) c.*730G>A (n.*730G>A) c.789G>A (p.Arg263=) c.807G>A (p.Arg269=) c.*648G>A (n.*648G>A) c.867G>A (p.Arg289=) | |
1 | g.7663426G>C | CA416026365 | CAMTA1 | c.879G>C (p.Arg293=) c.*730G>C (n.*730G>C) c.789G>C (p.Arg263=) c.807G>C (p.Arg269=) c.*648G>C (n.*648G>C) c.867G>C (p.Arg289=) | |
1 | g.7663426G>T | CA416026366 | CAMTA1 | c.879G>T (p.Arg293=) c.*730G>T (n.*730G>T) c.789G>T (p.Arg263=) c.807G>T (p.Arg269=) c.*648G>T (n.*648G>T) c.867G>T (p.Arg289=) | gnomAD v4 |
1 | g.7663427A>C | CA338121708 | CAMTA1 | c.880A>C (p.Thr294Pro) c.*731A>C (n.*731A>C) c.790A>C (p.Thr264Pro) c.808A>C (p.Thr270Pro) c.*649A>C (n.*649A>C) c.868A>C (p.Thr290Pro) | |
1 | g.7663427A>G | CA338121706 | CAMTA1 | c.880A>G (p.Thr294Ala) c.*731A>G (n.*731A>G) c.790A>G (p.Thr264Ala) c.808A>G (p.Thr270Ala) c.*649A>G (n.*649A>G) c.868A>G (p.Thr290Ala) | gnomAD v4 |
1 | g.7663427A>T | CA338121704 | CAMTA1 | c.880A>T (p.Thr294Ser) c.*731A>T (n.*731A>T) c.790A>T (p.Thr264Ser) c.808A>T (p.Thr270Ser) c.*649A>T (n.*649A>T) c.868A>T (p.Thr290Ser) | |
1 | g.7663428C>A | CA338121712 | CAMTA1 | c.881C>A (p.Thr294Lys) c.*732C>A (n.*732C>A) c.791C>A (p.Thr264Lys) c.809C>A (p.Thr270Lys) c.*650C>A (n.*650C>A) c.869C>A (p.Thr290Lys) | gnomAD v4 |
1 | g.7663428C= | CA1152023612 | CAMTA1 | c.881C= (p.Thr294=) c.*732C= (n.*732C=) c.791C= (p.Thr264=) c.809C= (p.Thr270=) c.*650C= (n.*650C=) c.869C= (p.Thr290=) | |
1 | g.7663428C>G | CA338121714 | CAMTA1 | c.881C>G (p.Thr294Arg) c.*732C>G (n.*732C>G) c.791C>G (p.Thr264Arg) c.809C>G (p.Thr270Arg) c.*650C>G (n.*650C>G) c.869C>G (p.Thr290Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663428C>T | CA338121719 | CAMTA1 | c.881C>T (p.Thr294Ile) c.*732C>T (n.*732C>T) c.791C>T (p.Thr264Ile) c.809C>T (p.Thr270Ile) c.*650C>T (n.*650C>T) c.869C>T (p.Thr290Ile) | |
1 | g.7663428_7663429delinsCA | CA1152023611 | CAMTA1 | c.881_882delinsCA (p.Thr294=) c.*732_*733delinsCA (n.*732_*733delinsCA) c.791_792delinsCA (p.Thr264=) c.809_810delinsCA (p.Thr270=) c.*650_*651delinsCA (n.*650_*651delinsCA) c.869_870delinsCA (p.Thr290=) | |
1 | g.7663429del | CA10602797 | CAMTA1 | c.882del (p.Tyr297ThrfsTer?) c.*733del (n.*733del) c.792del (p.Tyr267ThrfsTer?) c.810del (p.Tyr273ThrfsTer?) c.*651del (n.*651del) c.870del (p.Tyr293ThrfsTer?) | ClinVar dbSNP gnomAD v4 |
1 | g.7663429A= | CA1152023613 | CAMTA1 | c.882A= (p.Thr294=) c.*733A= (n.*733A=) c.792A= (p.Thr264=) c.810A= (p.Thr270=) c.*651A= (n.*651A=) c.870A= (p.Thr290=) | |
1 | g.7663429A>C | CA416026367 | CAMTA1 | c.882A>C (p.Thr294=) c.*733A>C (n.*733A>C) c.792A>C (p.Thr264=) c.810A>C (p.Thr270=) c.*651A>C (n.*651A>C) c.870A>C (p.Thr290=) | gnomAD v4 |
1 | g.7663429A>G | CA416026368 | CAMTA1 | c.882A>G (p.Thr294=) c.*733A>G (n.*733A>G) c.792A>G (p.Thr264=) c.810A>G (p.Thr270=) c.*651A>G (n.*651A>G) c.870A>G (p.Thr290=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663429A>T | CA416026369 | CAMTA1 | c.882A>T (p.Thr294=) c.*733A>T (n.*733A>T) c.792A>T (p.Thr264=) c.810A>T (p.Thr270=) c.*651A>T (n.*651A>T) c.870A>T (p.Thr290=) | |
1 | g.7663429_7663430insCG | CA16617188 | CAMTA1 | c.882_883insCG (p.Gly295ArgfsTer?) c.*733_*734insCG (n.*733_*734insCG) c.792_793insCG (p.Gly265ArgfsTer?) c.810_811insCG (p.Gly271ArgfsTer?) c.*651_*652insCG (n.*651_*652insCG) c.870_871insCG (p.Gly291ArgfsTer?) | ClinVar dbSNP |
1 | g.7663430G>A | CA338121732 | CAMTA1 | c.883G>A (p.Gly295Arg) c.*734G>A (n.*734G>A) c.793G>A (p.Gly265Arg) c.811G>A (p.Gly271Arg) c.*652G>A (n.*652G>A) c.871G>A (p.Gly291Arg) | ClinVar gnomAD v4 |
1 | g.7663430G>C | CA17243861 | CAMTA1 | c.883G>C (p.Gly295Arg) c.*734G>C (n.*734G>C) c.793G>C (p.Gly265Arg) c.811G>C (p.Gly271Arg) c.*652G>C (n.*652G>C) c.871G>C (p.Gly291Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.7663430G= | CA1152023614 | CAMTA1 | c.883G= (p.Gly295=) c.*734G= (n.*734G=) c.793G= (p.Gly265=) c.811G= (p.Gly271=) c.*652G= (n.*652G=) c.871G= (p.Gly291=) | |
1 | g.7663430G>T | CA338121737 | CAMTA1 | c.883G>T (p.Gly295Trp) c.*734G>T (n.*734G>T) c.793G>T (p.Gly265Trp) c.811G>T (p.Gly271Trp) c.*652G>T (n.*652G>T) c.871G>T (p.Gly291Trp) | |
1 | g.7663435dup | CA2643031704 | CAMTA1 | c.888dup (p.Tyr297ValfsTer11) c.*739dup (n.*739dup) c.798dup (p.Tyr267ValfsTer11) c.816dup (p.Tyr273ValfsTer11) c.*657dup (n.*657dup) c.876dup (p.Tyr293ValfsTer11) | gnomAD v4 |
1 | g.7663435del | CA416026370 | CAMTA1 | c.888del (p.Tyr297ThrfsTer?) c.*739del (n.*739del) c.798del (p.Tyr267ThrfsTer?) c.816del (p.Tyr273ThrfsTer?) c.*657del (n.*657del) c.876del (p.Tyr293ThrfsTer?) | gnomAD v4 COSMIC |
1 | g.7663431G>A | CA17243868 | CAMTA1 | c.884G>A (p.Gly295Glu) c.*735G>A (n.*735G>A) c.794G>A (p.Gly265Glu) c.812G>A (p.Gly271Glu) c.*653G>A (n.*653G>A) c.872G>A (p.Gly291Glu) | ClinVar dbSNP gnomAD v4 |
1 | g.7663431G>C | CA566315 | CAMTA1 | c.884G>C (p.Gly295Ala) c.*735G>C (n.*735G>C) c.794G>C (p.Gly265Ala) c.812G>C (p.Gly271Ala) c.*653G>C (n.*653G>C) c.872G>C (p.Gly291Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663431G= | CA1152023615 | CAMTA1 | c.884G= (p.Gly295=) c.*735G= (n.*735G=) c.794G= (p.Gly265=) c.812G= (p.Gly271=) c.*653G= (n.*653G=) c.872G= (p.Gly291=) | |
1 | g.7663431G>T | CA338121745 | CAMTA1 | c.884G>T (p.Gly295Val) c.*735G>T (n.*735G>T) c.794G>T (p.Gly265Val) c.812G>T (p.Gly271Val) c.*653G>T (n.*653G>T) c.872G>T (p.Gly291Val) | dbSNP gnomAD v4 |
1 | g.7663432G>A | CA416026371 | CAMTA1 | c.885G>A (p.Gly295=) c.*736G>A (n.*736G>A) c.795G>A (p.Gly265=) c.813G>A (p.Gly271=) c.*654G>A (n.*654G>A) c.873G>A (p.Gly291=) | gnomAD v4 |
1 | g.7663432G>C | CA416026372 | CAMTA1 | c.885G>C (p.Gly295=) c.*736G>C (n.*736G>C) c.795G>C (p.Gly265=) c.813G>C (p.Gly271=) c.*654G>C (n.*654G>C) c.873G>C (p.Gly291=) | |
1 | g.7663432G= | CA1152023616 | CAMTA1 | c.885G= (p.Gly295=) c.*736G= (n.*736G=) c.795G= (p.Gly265=) c.813G= (p.Gly271=) c.*654G= (n.*654G=) c.873G= (p.Gly291=) | |
1 | g.7663432G>T | CA416026373 | CAMTA1 | c.885G>T (p.Gly295=) c.*736G>T (n.*736G>T) c.795G>T (p.Gly265=) c.813G>T (p.Gly271=) c.*654G>T (n.*654G>T) c.873G>T (p.Gly291=) | dbSNP gnomAD v4 |
1 | g.7663433G>A | CA338121750 | CAMTA1 | c.886G>A (p.Gly296Arg) c.*737G>A (n.*737G>A) c.796G>A (p.Gly266Arg) c.814G>A (p.Gly272Arg) c.*655G>A (n.*655G>A) c.874G>A (p.Gly292Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.7663433G>C | CA338121752 | CAMTA1 | c.886G>C (p.Gly296Arg) c.*737G>C (n.*737G>C) c.796G>C (p.Gly266Arg) c.814G>C (p.Gly272Arg) c.*655G>C (n.*655G>C) c.874G>C (p.Gly292Arg) | |
1 | g.7663433G= | CA1152023617 | CAMTA1 | c.886G= (p.Gly296=) c.*737G= (n.*737G=) c.796G= (p.Gly266=) c.814G= (p.Gly272=) c.*655G= (n.*655G=) c.874G= (p.Gly292=) | |
1 | g.7663433G>T | CA338121754 | CAMTA1 | c.886G>T (p.Gly296Trp) c.*737G>T (n.*737G>T) c.796G>T (p.Gly266Trp) c.814G>T (p.Gly272Trp) c.*655G>T (n.*655G>T) c.874G>T (p.Gly292Trp) | dbSNP gnomAD v4 |
1 | g.7663434G>A | CA338121760 | CAMTA1 | c.887G>A (p.Gly296Glu) c.*738G>A (n.*738G>A) c.797G>A (p.Gly266Glu) c.815G>A (p.Gly272Glu) c.*656G>A (n.*656G>A) c.875G>A (p.Gly292Glu) | gnomAD v4 COSMIC COSMIC |
1 | g.7663434G>C | CA566316 | CAMTA1 | c.887G>C (p.Gly296Ala) c.*738G>C (n.*738G>C) c.797G>C (p.Gly266Ala) c.815G>C (p.Gly272Ala) c.*656G>C (n.*656G>C) c.875G>C (p.Gly292Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663434G= | CA1152023618 | CAMTA1 | c.887G= (p.Gly296=) c.*738G= (n.*738G=) c.797G= (p.Gly266=) c.815G= (p.Gly272=) c.*656G= (n.*656G=) c.875G= (p.Gly292=) | |
1 | g.7663434G>T | CA338121758 | CAMTA1 | c.887G>T (p.Gly296Val) c.*738G>T (n.*738G>T) c.797G>T (p.Gly266Val) c.815G>T (p.Gly272Val) c.*656G>T (n.*656G>T) c.875G>T (p.Gly292Val) | gnomAD v4 |
1 | g.7663435G>A | CA566317 | CAMTA1 | c.888G>A (p.Gly296=) c.*739G>A (n.*739G>A) c.798G>A (p.Gly266=) c.816G>A (p.Gly272=) c.*657G>A (n.*657G>A) c.876G>A (p.Gly292=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663435G>C | CA416026374 | CAMTA1 | c.888G>C (p.Gly296=) c.*739G>C (n.*739G>C) c.798G>C (p.Gly266=) c.816G>C (p.Gly272=) c.*657G>C (n.*657G>C) c.876G>C (p.Gly292=) | gnomAD v4 |
1 | g.7663435G= | CA1152023619 | CAMTA1 | c.888G= (p.Gly296=) c.*739G= (n.*739G=) c.798G= (p.Gly266=) c.816G= (p.Gly272=) c.*657G= (n.*657G=) c.876G= (p.Gly292=) | |
1 | g.7663435G>T | CA416026375 | CAMTA1 | c.888G>T (p.Gly296=) c.*739G>T (n.*739G>T) c.798G>T (p.Gly266=) c.816G>T (p.Gly272=) c.*657G>T (n.*657G>T) c.876G>T (p.Gly292=) | gnomAD v4 |
1 | g.7663436T>A | CA338121768 | CAMTA1 | c.889T>A (p.Tyr297Asn) c.*740T>A (n.*740T>A) c.799T>A (p.Tyr267Asn) c.817T>A (p.Tyr273Asn) c.*658T>A (n.*658T>A) c.877T>A (p.Tyr293Asn) | |
1 | g.7663436T>C | CA338121772 | CAMTA1 | c.889T>C (p.Tyr297His) c.*740T>C (n.*740T>C) c.799T>C (p.Tyr267His) c.817T>C (p.Tyr273His) c.*658T>C (n.*658T>C) c.877T>C (p.Tyr293His) | gnomAD v4 |
1 | g.7663436T>G | CA338121770 | CAMTA1 | c.889T>G (p.Tyr297Asp) c.*740T>G (n.*740T>G) c.799T>G (p.Tyr267Asp) c.817T>G (p.Tyr273Asp) c.*658T>G (n.*658T>G) c.877T>G (p.Tyr293Asp) | |
1 | g.7663437A= | CA1152023620 | CAMTA1 | c.890A= (p.Tyr297=) c.*741A= (n.*741A=) c.800A= (p.Tyr267=) c.818A= (p.Tyr273=) c.*659A= (n.*659A=) c.878A= (p.Tyr293=) | |
1 | g.7663437A>C | CA338121774 | CAMTA1 | c.890A>C (p.Tyr297Ser) c.*741A>C (n.*741A>C) c.800A>C (p.Tyr267Ser) c.818A>C (p.Tyr273Ser) c.*659A>C (n.*659A>C) c.878A>C (p.Tyr293Ser) | |
1 | g.7663437A>G | CA566318 | CAMTA1 | c.890A>G (p.Tyr297Cys) c.*741A>G (n.*741A>G) c.800A>G (p.Tyr267Cys) c.818A>G (p.Tyr273Cys) c.*659A>G (n.*659A>G) c.878A>G (p.Tyr293Cys) | dbSNP ExAC |
1 | g.7663437A>T | CA338121776 | CAMTA1 | c.890A>T (p.Tyr297Phe) c.*741A>T (n.*741A>T) c.800A>T (p.Tyr267Phe) c.818A>T (p.Tyr273Phe) c.*659A>T (n.*659A>T) c.878A>T (p.Tyr293Phe) | |
1 | g.7663438C>A | CA338121781 | CAMTA1 | c.891C>A (p.Tyr297Ter) c.*742C>A (n.*742C>A) c.801C>A (p.Tyr267Ter) c.819C>A (p.Tyr273Ter) c.*660C>A (n.*660C>A) c.879C>A (p.Tyr293Ter) | gnomAD v4 |
1 | g.7663438C= | CA1152023621 | CAMTA1 | c.891C= (p.Tyr297=) c.*742C= (n.*742C=) c.801C= (p.Tyr267=) c.819C= (p.Tyr273=) c.*660C= (n.*660C=) c.879C= (p.Tyr293=) | |
1 | g.7663438C>G | CA566319 | CAMTA1 | c.891C>G (p.Tyr297Ter) c.*742C>G (n.*742C>G) c.801C>G (p.Tyr267Ter) c.819C>G (p.Tyr273Ter) c.*660C>G (n.*660C>G) c.879C>G (p.Tyr293Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663438C>T | CA566320 | CAMTA1 | c.891C>T (p.Tyr297=) c.*742C>T (n.*742C>T) c.801C>T (p.Tyr267=) c.819C>T (p.Tyr273=) c.*660C>T (n.*660C>T) c.879C>T (p.Tyr293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663439G>A | CA566321 | CAMTA1 | c.892G>A (p.Gly298Arg) c.*743G>A (n.*743G>A) c.802G>A (p.Gly268Arg) c.820G>A (p.Gly274Arg) c.*661G>A (n.*661G>A) c.880G>A (p.Gly294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.7663439G>C | CA338121783 | CAMTA1 | c.892G>C (p.Gly298Arg) c.*743G>C (n.*743G>C) c.802G>C (p.Gly268Arg) c.820G>C (p.Gly274Arg) c.*661G>C (n.*661G>C) c.880G>C (p.Gly294Arg) | |
1 | g.7663439G= | CA1152023622 | CAMTA1 | c.892G= (p.Gly298=) c.*743G= (n.*743G=) c.802G= (p.Gly268=) c.820G= (p.Gly274=) c.*661G= (n.*661G=) c.880G= (p.Gly294=) | |
1 | g.7663439G>T | CA338121784 | CAMTA1 | c.892G>T (p.Gly298Trp) c.*743G>T (n.*743G>T) c.802G>T (p.Gly268Trp) c.820G>T (p.Gly274Trp) c.*661G>T (n.*661G>T) c.880G>T (p.Gly294Trp) | gnomAD v4 |
1 | g.7663441dup | CA2840116652 | CAMTA1 | c.894dup (p.Ser299GlufsTer9) c.*745dup (n.*745dup) c.804dup (p.Ser269GlufsTer9) c.822dup (p.Ser275GlufsTer9) c.*663dup (n.*663dup) c.882dup (p.Ser295GlufsTer9) | |
1 | g.7663440G>A | CA16603758 | CAMTA1 | c.893G>A (p.Gly298Glu) c.*744G>A (n.*744G>A) c.803G>A (p.Gly268Glu) c.821G>A (p.Gly274Glu) c.*662G>A (n.*662G>A) c.881G>A (p.Gly294Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.7663440G>C | CA338121788 | CAMTA1 | c.893G>C (p.Gly298Ala) c.*744G>C (n.*744G>C) c.803G>C (p.Gly268Ala) c.821G>C (p.Gly274Ala) c.*662G>C (n.*662G>C) c.881G>C (p.Gly294Ala) | |
1 | g.7663440G= | CA1152023623 | CAMTA1 | c.893G= (p.Gly298=) c.*744G= (n.*744G=) c.803G= (p.Gly268=) c.821G= (p.Gly274=) c.*662G= (n.*662G=) c.881G= (p.Gly294=) | |
1 | g.7663440G>T | CA338121791 | CAMTA1 | c.893G>T (p.Gly298Val) c.*744G>T (n.*744G>T) c.803G>T (p.Gly268Val) c.821G>T (p.Gly274Val) c.*662G>T (n.*662G>T) c.881G>T (p.Gly294Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663441G>A | CA566322 | CAMTA1 | c.894G>A (p.Gly298=) c.*745G>A (n.*745G>A) c.804G>A (p.Gly268=) c.822G>A (p.Gly274=) c.*663G>A (n.*663G>A) c.882G>A (p.Gly294=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663441G>C | CA416026377 | CAMTA1 | c.894G>C (p.Gly298=) c.*745G>C (n.*745G>C) c.804G>C (p.Gly268=) c.822G>C (p.Gly274=) c.*663G>C (n.*663G>C) c.882G>C (p.Gly294=) | COSMIC |
1 | g.7663441G= | CA1152023624 | CAMTA1 | c.894G= (p.Gly298=) c.*745G= (n.*745G=) c.804G= (p.Gly268=) c.822G= (p.Gly274=) c.*663G= (n.*663G=) c.882G= (p.Gly294=) | |
1 | g.7663441G>T | CA416026376 | CAMTA1 | c.894G>T (p.Gly298=) c.*745G>T (n.*745G>T) c.804G>T (p.Gly268=) c.822G>T (p.Gly274=) c.*663G>T (n.*663G>T) c.882G>T (p.Gly294=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663442A>C | CA338121794 | CAMTA1 | c.895A>C (p.Ser299Arg) c.*746A>C (n.*746A>C) c.805A>C (p.Ser269Arg) c.823A>C (p.Ser275Arg) c.*664A>C (n.*664A>C) c.883A>C (p.Ser295Arg) | |
1 | g.7663442A>G | CA338121797 | CAMTA1 | c.895A>G (p.Ser299Gly) c.*746A>G (n.*746A>G) c.805A>G (p.Ser269Gly) c.823A>G (p.Ser275Gly) c.*664A>G (n.*664A>G) c.883A>G (p.Ser295Gly) | gnomAD v4 |
1 | g.7663442A>T | CA338121799 | CAMTA1 | c.895A>T (p.Ser299Cys) c.*746A>T (n.*746A>T) c.805A>T (p.Ser269Cys) c.823A>T (p.Ser275Cys) c.*664A>T (n.*664A>T) c.883A>T (p.Ser295Cys) | |
1 | g.7663443G>A | CA338121802 | CAMTA1 | c.896G>A (p.Ser299Asn) c.*747G>A (n.*747G>A) c.806G>A (p.Ser269Asn) c.824G>A (p.Ser275Asn) c.*665G>A (n.*665G>A) c.884G>A (p.Ser295Asn) | gnomAD v4 |
1 | g.7663443G>C | CA338121805 | CAMTA1 | c.896G>C (p.Ser299Thr) c.*747G>C (n.*747G>C) c.806G>C (p.Ser269Thr) c.824G>C (p.Ser275Thr) c.*665G>C (n.*665G>C) c.884G>C (p.Ser295Thr) | |
1 | g.7663443G= | CA1152023625 | CAMTA1 | c.896G= (p.Ser299=) c.*747G= (n.*747G=) c.806G= (p.Ser269=) c.824G= (p.Ser275=) c.*665G= (n.*665G=) c.884G= (p.Ser295=) | |
1 | g.7663443G>T | CA338121807 | CAMTA1 | c.896G>T (p.Ser299Ile) c.*747G>T (n.*747G>T) c.806G>T (p.Ser269Ile) c.824G>T (p.Ser275Ile) c.*665G>T (n.*665G>T) c.884G>T (p.Ser295Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663444C>A | CA338121809 | CAMTA1 | c.897C>A (p.Ser299Arg) c.*748C>A (n.*748C>A) c.807C>A (p.Ser269Arg) c.825C>A (p.Ser275Arg) c.*666C>A (n.*666C>A) c.885C>A (p.Ser295Arg) | gnomAD v4 |
1 | g.7663444C= | CA1152023626 | CAMTA1 | c.897C= (p.Ser299=) c.*748C= (n.*748C=) c.807C= (p.Ser269=) c.825C= (p.Ser275=) c.*666C= (n.*666C=) c.885C= (p.Ser295=) | |
1 | g.7663444C>G | CA338121810 | CAMTA1 | c.897C>G (p.Ser299Arg) c.*748C>G (n.*748C>G) c.807C>G (p.Ser269Arg) c.825C>G (p.Ser275Arg) c.*666C>G (n.*666C>G) c.885C>G (p.Ser295Arg) | |
1 | g.7663444C>T | CA416026378 | CAMTA1 | c.897C>T (p.Ser299=) c.*748C>T (n.*748C>T) c.807C>T (p.Ser269=) c.825C>T (p.Ser275=) c.*666C>T (n.*666C>T) c.885C>T (p.Ser295=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663445C>A | CA338121814 | CAMTA1 | c.898C>A (p.His300Asn) c.*749C>A (n.*749C>A) c.808C>A (p.His270Asn) c.826C>A (p.His276Asn) c.*667C>A (n.*667C>A) c.886C>A (p.His296Asn) | |
1 | g.7663445C>G | CA338121817 | CAMTA1 | c.898C>G (p.His300Asp) c.*749C>G (n.*749C>G) c.808C>G (p.His270Asp) c.826C>G (p.His276Asp) c.*667C>G (n.*667C>G) c.886C>G (p.His296Asp) | |
1 | g.7663445C>T | CA338121821 | CAMTA1 | c.898C>T (p.His300Tyr) c.*749C>T (n.*749C>T) c.808C>T (p.His270Tyr) c.826C>T (p.His276Tyr) c.*667C>T (n.*667C>T) c.886C>T (p.His296Tyr) | gnomAD v4 |
1 | g.7663446A>C | CA338121823 | CAMTA1 | c.899A>C (p.His300Pro) c.*750A>C (n.*750A>C) c.809A>C (p.His270Pro) c.827A>C (p.His276Pro) c.*668A>C (n.*668A>C) c.887A>C (p.His296Pro) | |
1 | g.7663446A>G | CA338121824 | CAMTA1 | c.899A>G (p.His300Arg) c.*750A>G (n.*750A>G) c.809A>G (p.His270Arg) c.827A>G (p.His276Arg) c.*668A>G (n.*668A>G) c.887A>G (p.His296Arg) | |
1 | g.7663446A>T | CA338121825 | CAMTA1 | c.899A>T (p.His300Leu) c.*750A>T (n.*750A>T) c.809A>T (p.His270Leu) c.827A>T (p.His276Leu) c.*668A>T (n.*668A>T) c.887A>T (p.His296Leu) | gnomAD v4 |
1 | g.7663447C>A | CA338121826 | CAMTA1 | c.900C>A (p.His300Gln) c.*751C>A (n.*751C>A) c.810C>A (p.His270Gln) c.828C>A (p.His276Gln) c.*669C>A (n.*669C>A) c.888C>A (p.His296Gln) | gnomAD v4 |
1 | g.7663447C>G | CA338121827 | CAMTA1 | c.900C>G (p.His300Gln) c.*751C>G (n.*751C>G) c.810C>G (p.His270Gln) c.828C>G (p.His276Gln) c.*669C>G (n.*669C>G) c.888C>G (p.His296Gln) | |
1 | g.7663447C>T | CA416026379 | CAMTA1 | c.900C>T (p.His300=) c.*751C>T (n.*751C>T) c.810C>T (p.His270=) c.828C>T (p.His276=) c.*669C>T (n.*669C>T) c.888C>T (p.His296=) | |
1 | g.7663448T>A | CA338121828 | CAMTA1 | c.901T>A (p.Ser301Thr) c.*752T>A (n.*752T>A) c.811T>A (p.Ser271Thr) c.829T>A (p.Ser277Thr) c.*670T>A (n.*670T>A) c.889T>A (p.Ser297Thr) | |
1 | g.7663448T>C | CA338121829 | CAMTA1 | c.901T>C (p.Ser301Pro) c.*752T>C (n.*752T>C) c.811T>C (p.Ser271Pro) c.829T>C (p.Ser277Pro) c.*670T>C (n.*670T>C) c.889T>C (p.Ser297Pro) | |
1 | g.7663448T>G | CA338121833 | CAMTA1 | c.901T>G (p.Ser301Ala) c.*752T>G (n.*752T>G) c.811T>G (p.Ser271Ala) c.829T>G (p.Ser277Ala) c.*670T>G (n.*670T>G) c.889T>G (p.Ser297Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663448T= | CA1152023627 | CAMTA1 | c.901T= (p.Ser301=) c.*752T= (n.*752T=) c.811T= (p.Ser271=) c.829T= (p.Ser277=) c.*670T= (n.*670T=) c.889T= (p.Ser297=) | |
1 | g.7663449C>A | CA338121840 | CAMTA1 | c.902C>A (p.Ser301Ter) c.*753C>A (n.*753C>A) c.812C>A (p.Ser271Ter) c.830C>A (p.Ser277Ter) c.*671C>A (n.*671C>A) c.890C>A (p.Ser297Ter) | gnomAD v4 |
1 | g.7663449C= | CA1148233100 | CAMTA1 | c.902C= (p.Ser301=) c.*753C= (n.*753C=) c.812C= (p.Ser271=) c.830C= (p.Ser277=) c.*671C= (n.*671C=) c.890C= (p.Ser297=) | |
1 | g.7663449C>G | CA566323 | CAMTA1 | c.902C>G (p.Ser301Trp) c.*753C>G (n.*753C>G) c.812C>G (p.Ser271Trp) c.830C>G (p.Ser277Trp) c.*671C>G (n.*671C>G) c.890C>G (p.Ser297Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663449C>T | CA338121841 | CAMTA1 | c.902C>T (p.Ser301Leu) c.*753C>T (n.*753C>T) c.812C>T (p.Ser271Leu) c.830C>T (p.Ser277Leu) c.*671C>T (n.*671C>T) c.890C>T (p.Ser297Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663450G>A | CA566325 | CAMTA1 | c.903G>A (p.Ser301=) c.*754G>A (n.*754G>A) c.813G>A (p.Ser271=) c.831G>A (p.Ser277=) c.*672G>A (n.*672G>A) c.891G>A (p.Ser297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663450G>C | CA566324 | CAMTA1 | c.903G>C (p.Ser301=) c.*754G>C (n.*754G>C) c.813G>C (p.Ser271=) c.831G>C (p.Ser277=) c.*672G>C (n.*672G>C) c.891G>C (p.Ser297=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663450G= | CA1144105843 | CAMTA1 | c.903G= (p.Ser301=) c.*754G= (n.*754G=) c.813G= (p.Ser271=) c.831G= (p.Ser277=) c.*672G= (n.*672G=) c.891G= (p.Ser297=) | |
1 | g.7663450G>T | CA416026380 | CAMTA1 | c.903G>T (p.Ser301=) c.*754G>T (n.*754G>T) c.813G>T (p.Ser271=) c.831G>T (p.Ser277=) c.*672G>T (n.*672G>T) c.891G>T (p.Ser297=) | gnomAD v4 |
1 | g.7663451G>A | CA338121844 | CAMTA1 | c.904G>A (p.Glu302Lys) c.*755G>A (n.*755G>A) c.814G>A (p.Glu272Lys) c.832G>A (p.Glu278Lys) c.*673G>A (n.*673G>A) c.892G>A (p.Glu298Lys) | |
1 | g.7663451G>C | CA338121847 | CAMTA1 | c.904G>C (p.Glu302Gln) c.*755G>C (n.*755G>C) c.814G>C (p.Glu272Gln) c.832G>C (p.Glu278Gln) c.*673G>C (n.*673G>C) c.892G>C (p.Glu298Gln) | |
1 | g.7663451G>T | CA338121849 | CAMTA1 | c.904G>T (p.Glu302Ter) c.*755G>T (n.*755G>T) c.814G>T (p.Glu272Ter) c.832G>T (p.Glu278Ter) c.*673G>T (n.*673G>T) c.892G>T (p.Glu298Ter) | |
1 | g.7663452A>C | CA338121852 | CAMTA1 | c.905A>C (p.Glu302Ala) c.*756A>C (n.*756A>C) c.815A>C (p.Glu272Ala) c.833A>C (p.Glu278Ala) c.*674A>C (n.*674A>C) c.893A>C (p.Glu298Ala) | |
1 | g.7663452A>G | CA338121855 | CAMTA1 | c.905A>G (p.Glu302Gly) c.*756A>G (n.*756A>G) c.815A>G (p.Glu272Gly) c.833A>G (p.Glu278Gly) c.*674A>G (n.*674A>G) c.893A>G (p.Glu298Gly) | gnomAD v4 |
1 | g.7663452A>T | CA338121857 | CAMTA1 | c.905A>T (p.Glu302Val) c.*756A>T (n.*756A>T) c.815A>T (p.Glu272Val) c.833A>T (p.Glu278Val) c.*674A>T (n.*674A>T) c.893A>T (p.Glu298Val) | |
1 | g.7663453G>A | CA416026381 | CAMTA1 | c.906G>A (p.Glu302=) c.*757G>A (n.*757G>A) c.816G>A (p.Glu272=) c.834G>A (p.Glu278=) c.*675G>A (n.*675G>A) c.894G>A (p.Glu298=) | gnomAD v4 |
1 | g.7663453G>C | CA338121872 | CAMTA1 | c.906G>C (p.Glu302Asp) c.*757G>C (n.*757G>C) c.816G>C (p.Glu272Asp) c.834G>C (p.Glu278Asp) c.*675G>C (n.*675G>C) c.894G>C (p.Glu298Asp) | |
1 | g.7663453G>T | CA338121860 | CAMTA1 | c.906G>T (p.Glu302Asp) c.*757G>T (n.*757G>T) c.816G>T (p.Glu272Asp) c.834G>T (p.Glu278Asp) c.*675G>T (n.*675G>T) c.894G>T (p.Glu298Asp) | |
1 | g.7663454G>A | CA338121876 | CAMTA1 | c.907G>A (p.Val303Met) c.*758G>A (n.*758G>A) c.817G>A (p.Val273Met) c.835G>A (p.Val279Met) c.*676G>A (n.*676G>A) c.895G>A (p.Val299Met) | gnomAD v4 |
1 | g.7663454G>C | CA338121878 | CAMTA1 | c.907G>C (p.Val303Leu) c.*758G>C (n.*758G>C) c.817G>C (p.Val273Leu) c.835G>C (p.Val279Leu) c.*676G>C (n.*676G>C) c.895G>C (p.Val299Leu) | |
1 | g.7663454G>T | CA338121885 | CAMTA1 | c.907G>T (p.Val303Leu) c.*758G>T (n.*758G>T) c.817G>T (p.Val273Leu) c.835G>T (p.Val279Leu) c.*676G>T (n.*676G>T) c.895G>T (p.Val299Leu) | |
1 | g.7663455T>A | CA338121889 | CAMTA1 | c.908T>A (p.Val303Glu) c.*759T>A (n.*759T>A) c.818T>A (p.Val273Glu) c.836T>A (p.Val279Glu) c.*677T>A (n.*677T>A) c.896T>A (p.Val299Glu) | |
1 | g.7663455T>C | CA338121893 | CAMTA1 | c.908T>C (p.Val303Ala) c.*759T>C (n.*759T>C) c.818T>C (p.Val273Ala) c.836T>C (p.Val279Ala) c.*677T>C (n.*677T>C) c.896T>C (p.Val299Ala) | gnomAD v4 |
1 | g.7663455T>G | CA338121896 | CAMTA1 | c.908T>G (p.Val303Gly) c.*759T>G (n.*759T>G) c.818T>G (p.Val273Gly) c.836T>G (p.Val279Gly) c.*677T>G (n.*677T>G) c.896T>G (p.Val299Gly) | dbSNP |
1 | g.7663455T= | CA1152023628 | CAMTA1 | c.908T= (p.Val303=) c.*759T= (n.*759T=) c.818T= (p.Val273=) c.836T= (p.Val279=) c.*677T= (n.*677T=) c.896T= (p.Val299=) | |
1 | g.7663456G>A | CA416026382 | CAMTA1 | c.909G>A (p.Val303=) c.*760G>A (n.*760G>A) c.819G>A (p.Val273=) c.837G>A (p.Val279=) c.*678G>A (n.*678G>A) c.897G>A (p.Val299=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663456G>C | CA416026383 | CAMTA1 | c.909G>C (p.Val303=) c.*760G>C (n.*760G>C) c.819G>C (p.Val273=) c.837G>C (p.Val279=) c.*678G>C (n.*678G>C) c.897G>C (p.Val299=) | |
1 | g.7663456G= | CA1152023629 | CAMTA1 | c.909G= (p.Val303=) c.*760G= (n.*760G=) c.819G= (p.Val273=) c.837G= (p.Val279=) c.*678G= (n.*678G=) c.897G= (p.Val299=) | |
1 | g.7663456G>T | CA416026384 | CAMTA1 | c.909G>T (p.Val303=) c.*760G>T (n.*760G>T) c.819G>T (p.Val273=) c.837G>T (p.Val279=) c.*678G>T (n.*678G>T) c.897G>T (p.Val299=) | |
1 | g.7663457C>A | CA338121905 | CAMTA1 | c.910C>A (p.Gln304Lys) c.*761C>A (n.*761C>A) c.820C>A (p.Gln274Lys) c.838C>A (p.Gln280Lys) c.*679C>A (n.*679C>A) c.898C>A (p.Gln300Lys) | gnomAD v4 |
1 | g.7663457C= | CA1152023630 | CAMTA1 | c.910C= (p.Gln304=) c.*761C= (n.*761C=) c.820C= (p.Gln274=) c.838C= (p.Gln280=) c.*679C= (n.*679C=) c.898C= (p.Gln300=) | |
1 | g.7663457C>G | CA338121900 | CAMTA1 | c.910C>G (p.Gln304Glu) c.*761C>G (n.*761C>G) c.820C>G (p.Gln274Glu) c.838C>G (p.Gln280Glu) c.*679C>G (n.*679C>G) c.898C>G (p.Gln300Glu) | |
1 | g.7663457C>T | CA17243904 | CAMTA1 | c.910C>T (p.Gln304Ter) c.*761C>T (n.*761C>T) c.820C>T (p.Gln274Ter) c.838C>T (p.Gln280Ter) c.*679C>T (n.*679C>T) c.898C>T (p.Gln300Ter) | dbSNP gnomAD v4 |
1 | g.7663458A= | CA1149061314 | CAMTA1 | c.911A= (p.Gln304=) c.*762A= (n.*762A=) c.821A= (p.Gln274=) c.839A= (p.Gln280=) c.*680A= (n.*680A=) c.899A= (p.Gln300=) | |
1 | g.7663458A>C | CA566326 | CAMTA1 | c.911A>C (p.Gln304Pro) c.*762A>C (n.*762A>C) c.821A>C (p.Gln274Pro) c.839A>C (p.Gln280Pro) c.*680A>C (n.*680A>C) c.899A>C (p.Gln300Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663458A>G | CA338121910 | CAMTA1 | c.911A>G (p.Gln304Arg) c.*762A>G (n.*762A>G) c.821A>G (p.Gln274Arg) c.839A>G (p.Gln280Arg) c.*680A>G (n.*680A>G) c.899A>G (p.Gln300Arg) | |
1 | g.7663458A>T | CA338121912 | CAMTA1 | c.911A>T (p.Gln304Leu) c.*762A>T (n.*762A>T) c.821A>T (p.Gln274Leu) c.839A>T (p.Gln280Leu) c.*680A>T (n.*680A>T) c.899A>T (p.Gln300Leu) | |
1 | g.7663459G>A | CA17243911 | CAMTA1 | c.912G>A (p.Gln304=) c.*763G>A (n.*763G>A) c.822G>A (p.Gln274=) c.840G>A (p.Gln280=) c.*681G>A (n.*681G>A) c.900G>A (p.Gln300=) | dbSNP gnomAD v4 |
1 | g.7663459G>C | CA338121913 | CAMTA1 | c.912G>C (p.Gln304His) c.*763G>C (n.*763G>C) c.822G>C (p.Gln274His) c.840G>C (p.Gln280His) c.*681G>C (n.*681G>C) c.900G>C (p.Gln300His) | |
1 | g.7663459G= | CA1152023631 | CAMTA1 | c.912G= (p.Gln304=) c.*763G= (n.*763G=) c.822G= (p.Gln274=) c.840G= (p.Gln280=) c.*681G= (n.*681G=) c.900G= (p.Gln300=) | |
1 | g.7663459G>T | CA338121914 | CAMTA1 | c.912G>T (p.Gln304His) c.*763G>T (n.*763G>T) c.822G>T (p.Gln274His) c.840G>T (p.Gln280His) c.*681G>T (n.*681G>T) c.900G>T (p.Gln300His) | |
1 | g.7663460C>A | CA338121915 | CAMTA1 | c.913C>A (p.His305Asn) c.*764C>A (n.*764C>A) c.823C>A (p.His275Asn) c.841C>A (p.His281Asn) c.*682C>A (n.*682C>A) c.901C>A (p.His301Asn) | gnomAD v4 |
1 | g.7663460C>G | CA338121917 | CAMTA1 | c.913C>G (p.His305Asp) c.*764C>G (n.*764C>G) c.823C>G (p.His275Asp) c.841C>G (p.His281Asp) c.*682C>G (n.*682C>G) c.901C>G (p.His301Asp) | |
1 | g.7663460C>T | CA338121916 | CAMTA1 | c.913C>T (p.His305Tyr) c.*764C>T (n.*764C>T) c.823C>T (p.His275Tyr) c.841C>T (p.His281Tyr) c.*682C>T (n.*682C>T) c.901C>T (p.His301Tyr) | gnomAD v4 |
1 | g.7663461A>C | CA338121919 | CAMTA1 | c.914A>C (p.His305Pro) c.*765A>C (n.*765A>C) c.824A>C (p.His275Pro) c.842A>C (p.His281Pro) c.*683A>C (n.*683A>C) c.902A>C (p.His301Pro) | |
1 | g.7663461A>G | CA338121921 | CAMTA1 | c.914A>G (p.His305Arg) c.*765A>G (n.*765A>G) c.824A>G (p.His275Arg) c.842A>G (p.His281Arg) c.*683A>G (n.*683A>G) c.902A>G (p.His301Arg) | |
1 | g.7663461A>T | CA338121924 | CAMTA1 | c.914A>T (p.His305Leu) c.*765A>T (n.*765A>T) c.824A>T (p.His275Leu) c.842A>T (p.His281Leu) c.*683A>T (n.*683A>T) c.902A>T (p.His301Leu) | |
1 | g.7663462C>A | CA338121928 | CAMTA1 | c.915C>A (p.His305Gln) c.*766C>A (n.*766C>A) c.825C>A (p.His275Gln) c.843C>A (p.His281Gln) c.*684C>A (n.*684C>A) c.903C>A (p.His301Gln) | gnomAD v4 |
1 | g.7663462C>G | CA338121931 | CAMTA1 | c.915C>G (p.His305Gln) c.*766C>G (n.*766C>G) c.825C>G (p.His275Gln) c.843C>G (p.His281Gln) c.*684C>G (n.*684C>G) c.903C>G (p.His301Gln) | |
1 | g.7663462C>T | CA416026385 | CAMTA1 | c.915C>T (p.His305=) c.*766C>T (n.*766C>T) c.825C>T (p.His275=) c.843C>T (p.His281=) c.*684C>T (n.*684C>T) c.903C>T (p.His301=) | |
1 | g.7663463A>C | CA338121933 | CAMTA1 | c.916A>C (p.Asn306His) c.*767A>C (n.*767A>C) c.826A>C (p.Asn276His) c.844A>C (p.Asn282His) c.*685A>C (n.*685A>C) c.904A>C (p.Asn302His) | |
1 | g.7663463A>G | CA338121945 | CAMTA1 | c.916A>G (p.Asn306Asp) c.*767A>G (n.*767A>G) c.826A>G (p.Asn276Asp) c.844A>G (p.Asn282Asp) c.*685A>G (n.*685A>G) c.904A>G (p.Asn302Asp) | |
1 | g.7663463A>T | CA338121948 | CAMTA1 | c.916A>T (p.Asn306Tyr) c.*767A>T (n.*767A>T) c.826A>T (p.Asn276Tyr) c.844A>T (p.Asn282Tyr) c.*685A>T (n.*685A>T) c.904A>T (p.Asn302Tyr) | |
1 | g.7663464A= | CA1152023632 | CAMTA1 | c.917A= (p.Asn306=) c.*768A= (n.*768A=) c.827A= (p.Asn276=) c.845A= (p.Asn282=) c.*686A= (n.*686A=) c.905A= (p.Asn302=) | |
1 | g.7663464A>C | CA338121952 | CAMTA1 | c.917A>C (p.Asn306Thr) c.*768A>C (n.*768A>C) c.827A>C (p.Asn276Thr) c.845A>C (p.Asn282Thr) c.*686A>C (n.*686A>C) c.905A>C (p.Asn302Thr) | |
1 | g.7663464A>G | CA338121955 | CAMTA1 | c.917A>G (p.Asn306Ser) c.*768A>G (n.*768A>G) c.827A>G (p.Asn276Ser) c.845A>G (p.Asn282Ser) c.*686A>G (n.*686A>G) c.905A>G (p.Asn302Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663464A>T | CA338121966 | CAMTA1 | c.917A>T (p.Asn306Ile) c.*768A>T (n.*768A>T) c.827A>T (p.Asn276Ile) c.845A>T (p.Asn282Ile) c.*686A>T (n.*686A>T) c.905A>T (p.Asn302Ile) | |
1 | g.7663465T>A | CA338121967 | CAMTA1 | c.918T>A (p.Asn306Lys) c.*769T>A (n.*769T>A) c.828T>A (p.Asn276Lys) c.846T>A (p.Asn282Lys) c.*687T>A (n.*687T>A) c.906T>A (p.Asn302Lys) | |
1 | g.7663465T>C | CA416026386 | CAMTA1 | c.918T>C (p.Asn306=) c.*769T>C (n.*769T>C) c.828T>C (p.Asn276=) c.846T>C (p.Asn282=) c.*687T>C (n.*687T>C) c.906T>C (p.Asn302=) | |
1 | g.7663465T>G | CA338121968 | CAMTA1 | c.918T>G (p.Asn306Lys) c.*769T>G (n.*769T>G) c.828T>G (p.Asn276Lys) c.846T>G (p.Asn282Lys) c.*687T>G (n.*687T>G) c.906T>G (p.Asn302Lys) | |
1 | g.7663466G>A | CA338121974 | CAMTA1 | c.919G>A (p.Asp307Asn) c.*770G>A (n.*770G>A) c.829G>A (p.Asp277Asn) c.847G>A (p.Asp283Asn) c.*688G>A (n.*688G>A) c.907G>A (p.Asp303Asn) | gnomAD v4 |
1 | g.7663466G>C | CA338121971 | CAMTA1 | c.919G>C (p.Asp307His) c.*770G>C (n.*770G>C) c.829G>C (p.Asp277His) c.847G>C (p.Asp283His) c.*688G>C (n.*688G>C) c.907G>C (p.Asp303His) | |
1 | g.7663466G= | CA1152023633 | CAMTA1 | c.919G= (p.Asp307=) c.*770G= (n.*770G=) c.829G= (p.Asp277=) c.847G= (p.Asp283=) c.*688G= (n.*688G=) c.907G= (p.Asp303=) | |
1 | g.7663466G>T | CA566327 | CAMTA1 | c.919G>T (p.Asp307Tyr) c.*770G>T (n.*770G>T) c.829G>T (p.Asp277Tyr) c.847G>T (p.Asp283Tyr) c.*688G>T (n.*688G>T) c.907G>T (p.Asp303Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663467A>C | CA338121987 | CAMTA1 | c.920A>C (p.Asp307Ala) c.*771A>C (n.*771A>C) c.830A>C (p.Asp277Ala) c.848A>C (p.Asp283Ala) c.*689A>C (n.*689A>C) c.908A>C (p.Asp303Ala) | |
1 | g.7663467A>G | CA338121988 | CAMTA1 | c.920A>G (p.Asp307Gly) c.*771A>G (n.*771A>G) c.830A>G (p.Asp277Gly) c.848A>G (p.Asp283Gly) c.*689A>G (n.*689A>G) c.908A>G (p.Asp303Gly) | gnomAD v4 |
1 | g.7663467A>T | CA338121995 | CAMTA1 | c.920A>T (p.Asp307Val) c.*771A>T (n.*771A>T) c.830A>T (p.Asp277Val) c.848A>T (p.Asp283Val) c.*689A>T (n.*689A>T) c.908A>T (p.Asp303Val) | |
1 | g.7663468C>A | CA338122001 | CAMTA1 | c.921C>A (p.Asp307Glu) c.*772C>A (n.*772C>A) c.831C>A (p.Asp277Glu) c.849C>A (p.Asp283Glu) c.*690C>A (n.*690C>A) c.909C>A (p.Asp303Glu) | gnomAD v4 |
1 | g.7663468C= | CA1152023634 | CAMTA1 | c.921C= (p.Asp307=) c.*772C= (n.*772C=) c.831C= (p.Asp277=) c.849C= (p.Asp283=) c.*690C= (n.*690C=) c.909C= (p.Asp303=) | |
1 | g.7663468C>G | CA338122005 | CAMTA1 | c.921C>G (p.Asp307Glu) c.*772C>G (n.*772C>G) c.831C>G (p.Asp277Glu) c.849C>G (p.Asp283Glu) c.*690C>G (n.*690C>G) c.909C>G (p.Asp303Glu) | |
1 | g.7663468C>T | CA416026387 | CAMTA1 | c.921C>T (p.Asp307=) c.*772C>T (n.*772C>T) c.831C>T (p.Asp277=) c.849C>T (p.Asp283=) c.*690C>T (n.*690C>T) c.909C>T (p.Asp303=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.7663469G>A | CA566328 | CAMTA1 | c.922G>A (p.Val308Met) c.*773G>A (n.*773G>A) c.832G>A (p.Val278Met) c.850G>A (p.Val284Met) c.*691G>A (n.*691G>A) c.910G>A (p.Val304Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.7663469G>C | CA338122018 | CAMTA1 | c.922G>C (p.Val308Leu) c.*773G>C (n.*773G>C) c.832G>C (p.Val278Leu) c.850G>C (p.Val284Leu) c.*691G>C (n.*691G>C) c.910G>C (p.Val304Leu) | |
1 | g.7663469G= | CA1152023635 | CAMTA1 | c.922G= (p.Val308=) c.*773G= (n.*773G=) c.832G= (p.Val278=) c.850G= (p.Val284=) c.*691G= (n.*691G=) c.910G= (p.Val304=) | |
1 | g.7663469G>T | CA338122022 | CAMTA1 | c.922G>T (p.Val308Leu) c.*773G>T (n.*773G>T) c.832G>T (p.Val278Leu) c.850G>T (p.Val284Leu) c.*691G>T (n.*691G>T) c.910G>T (p.Val304Leu) | |
1 | g.7663470T>A | CA338122025 | CAMTA1 | c.923T>A (p.Val308Glu) c.*774T>A (n.*774T>A) c.833T>A (p.Val278Glu) c.851T>A (p.Val284Glu) c.*692T>A (n.*692T>A) c.911T>A (p.Val304Glu) | |
1 | g.7663470T>C | CA338122031 | CAMTA1 | c.923T>C (p.Val308Ala) c.*774T>C (n.*774T>C) c.833T>C (p.Val278Ala) c.851T>C (p.Val284Ala) c.*692T>C (n.*692T>C) c.911T>C (p.Val304Ala) | |
1 | g.7663470T>G | CA338122033 | CAMTA1 | c.923T>G (p.Val308Gly) c.*774T>G (n.*774T>G) c.833T>G (p.Val278Gly) c.851T>G (p.Val284Gly) c.*692T>G (n.*692T>G) c.911T>G (p.Val304Gly) | |
1 | g.7663471G>A | CA416026389 | CAMTA1 | c.924G>A (p.Val308=) c.*775G>A (n.*775G>A) c.834G>A (p.Val278=) c.852G>A (p.Val284=) c.*693G>A (n.*693G>A) c.912G>A (p.Val304=) | gnomAD v4 |
1 | g.7663471G>C | CA416026390 | CAMTA1 | c.924G>C (p.Val308=) c.*775G>C (n.*775G>C) c.834G>C (p.Val278=) c.852G>C (p.Val284=) c.*693G>C (n.*693G>C) c.912G>C (p.Val304=) | |
1 | g.7663471G>T | CA416026388 | CAMTA1 | c.924G>T (p.Val308=) c.*775G>T (n.*775G>T) c.834G>T (p.Val278=) c.852G>T (p.Val284=) c.*693G>T (n.*693G>T) c.912G>T (p.Val304=) | |
1 | g.7663472T>A | CA338122036 | CAMTA1 | c.925T>A (p.Ser309Thr) c.*776T>A (n.*776T>A) c.835T>A (p.Ser279Thr) c.853T>A (p.Ser285Thr) c.*694T>A (n.*694T>A) c.913T>A (p.Ser305Thr) | |
1 | g.7663472T>C | CA338122037 | CAMTA1 | c.925T>C (p.Ser309Pro) c.*776T>C (n.*776T>C) c.835T>C (p.Ser279Pro) c.853T>C (p.Ser285Pro) c.*694T>C (n.*694T>C) c.913T>C (p.Ser305Pro) | |
1 | g.7663472T>G | CA338122040 | CAMTA1 | c.925T>G (p.Ser309Ala) c.*776T>G (n.*776T>G) c.835T>G (p.Ser279Ala) c.853T>G (p.Ser285Ala) c.*694T>G (n.*694T>G) c.913T>G (p.Ser305Ala) | |
1 | g.7663473C>A | CA338122044 | CAMTA1 | c.926C>A (p.Ser309Ter) c.*777C>A (n.*777C>A) c.836C>A (p.Ser279Ter) c.854C>A (p.Ser285Ter) c.*695C>A (n.*695C>A) c.914C>A (p.Ser305Ter) | ClinVar gnomAD v4 |
1 | g.7663473C= | CA1152023636 | CAMTA1 | c.926C= (p.Ser309=) c.*777C= (n.*777C=) c.836C= (p.Ser279=) c.854C= (p.Ser285=) c.*695C= (n.*695C=) c.914C= (p.Ser305=) | |
1 | g.7663473C>G | CA338122053 | CAMTA1 | c.926C>G (p.Ser309Trp) c.*777C>G (n.*777C>G) c.836C>G (p.Ser279Trp) c.854C>G (p.Ser285Trp) c.*695C>G (n.*695C>G) c.914C>G (p.Ser305Trp) | |
1 | g.7663473C>T | CA338122042 | CAMTA1 | c.926C>T (p.Ser309Leu) c.*777C>T (n.*777C>T) c.836C>T (p.Ser279Leu) c.854C>T (p.Ser285Leu) c.*695C>T (n.*695C>T) c.914C>T (p.Ser305Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.7663474G>A | CA566329 | CAMTA1 | c.927G>A (p.Ser309=) c.*778G>A (n.*778G>A) c.837G>A (p.Ser279=) c.855G>A (p.Ser285=) c.*696G>A (n.*696G>A) c.915G>A (p.Ser305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.7663474G>C | CA416026391 | CAMTA1 | c.927G>C (p.Ser309=) c.*778G>C (n.*778G>C) c.837G>C (p.Ser279=) c.855G>C (p.Ser285=) c.*696G>C (n.*696G>C) c.915G>C (p.Ser305=) | dbSNP |
1 | g.7663474G= | CA1139990299 | CAMTA1 | c.927G= (p.Ser309=) c.*778G= (n.*778G=) c.837G= (p.Ser279=) c.855G= (p.Ser285=) c.*696G= (n.*696G=) c.915G= (p.Ser305=) | |
1 | g.7663474G>T | CA416026392 | CAMTA1 | c.927G>T (p.Ser309=) c.*778G>T (n.*778G>T) c.837G>T (p.Ser279=) c.855G>T (p.Ser285=) c.*696G>T (n.*696G>T) c.915G>T (p.Ser305=) | gnomAD v4 |
1 | g.7663475G>A | CA338122067 | CAMTA1 | c.928G>A (p.Glu310Lys) c.*779G>A (n.*779G>A) c.838G>A (p.Glu280Lys) c.856G>A (p.Glu286Lys) c.*697G>A (n.*697G>A) c.916G>A (p.Glu306Lys) | |
1 | g.7663475G>C | CA338122069 | CAMTA1 | c.928G>C (p.Glu310Gln) c.*779G>C (n.*779G>C) c.838G>C (p.Glu280Gln) c.856G>C (p.Glu286Gln) c.*697G>C (n.*697G>C) c.916G>C (p.Glu306Gln) | COSMIC |
1 | g.7663475G>T | CA338122077 | CAMTA1 | c.928G>T (p.Glu310Ter) c.*779G>T (n.*779G>T) c.838G>T (p.Glu280Ter) c.856G>T (p.Glu286Ter) c.*697G>T (n.*697G>T) c.916G>T (p.Glu306Ter) | |
1 | g.7663476A>C | CA338122080 | CAMTA1 | c.929A>C (p.Glu310Ala) c.*780A>C (n.*780A>C) c.839A>C (p.Glu280Ala) c.857A>C (p.Glu286Ala) c.*698A>C (n.*698A>C) c.917A>C (p.Glu306Ala) | |
1 | g.7663476A>G | CA338122081 | CAMTA1 | c.929A>G (p.Glu310Gly) c.*780A>G (n.*780A>G) c.839A>G (p.Glu280Gly) c.857A>G (p.Glu286Gly) c.*698A>G (n.*698A>G) c.917A>G (p.Glu306Gly) | gnomAD v4 |
1 | g.7663476A>T | CA338122082 | CAMTA1 | c.929A>T (p.Glu310Val) c.*780A>T (n.*780A>T) c.839A>T (p.Glu280Val) c.857A>T (p.Glu286Val) c.*698A>T (n.*698A>T) c.917A>T (p.Glu306Val) |