| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |