Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.155295463C>A | CA342755476 | PKLR | c.481G>T (p.Glu161Ter) c.289G>T (p.Glu97Ter) c.388G>T (p.Glu130Ter) c.386G>T (n.386G>T) c.640G>T (p.Glu214Ter) | |
1 | g.155295463C>G | CA342755477 | PKLR | c.481G>C (p.Glu161Gln) c.289G>C (p.Glu97Gln) c.388G>C (p.Glu130Gln) c.386G>C (n.386G>C) c.640G>C (p.Glu214Gln) | |
1 | g.155295463C>T | CA342755478 | PKLR | c.481G>A (p.Glu161Lys) c.289G>A (p.Glu97Lys) c.388G>A (p.Glu130Lys) c.386G>A (n.386G>A) c.640G>A (p.Glu214Lys) | |
1 | g.155295464C>A | CA421245797 | PKLR | c.480G>T (p.Pro160=) c.288G>T (p.Pro96=) c.387G>T (p.Pro129=) c.385G>T (n.385G>T) c.639G>T (p.Pro213=) | |
1 | g.155295464C= | CA1142100287 | PKLR | c.480G= (p.Pro160=) c.288G= (p.Pro96=) c.387G= (p.Pro129=) c.385G= (n.385G=) c.639G= (p.Pro213=) | |
1 | g.155295464C>G | CA421245798 | PKLR | c.480G>C (p.Pro160=) c.288G>C (p.Pro96=) c.387G>C (p.Pro129=) c.385G>C (n.385G>C) c.639G>C (p.Pro213=) | |
1 | g.155295464C>T | CA1144330 | PKLR | c.480G>A (p.Pro160=) c.288G>A (p.Pro96=) c.387G>A (p.Pro129=) c.385G>A (n.385G>A) c.639G>A (p.Pro213=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295465G>A | CA342755481 | PKLR | c.479C>T (p.Pro160Leu) c.287C>T (p.Pro96Leu) c.386C>T (p.Pro129Leu) c.384C>T (n.384C>T) c.638C>T (p.Pro213Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.155295465G>C | CA342755479 | PKLR | c.479C>G (p.Pro160Arg) c.287C>G (p.Pro96Arg) c.386C>G (p.Pro129Arg) c.384C>G (n.384C>G) c.638C>G (p.Pro213Arg) | |
1 | g.155295465G= | CA1200112631 | PKLR | c.479C= (p.Pro160=) c.287C= (p.Pro96=) c.386C= (p.Pro129=) c.384C= (n.384C=) c.638C= (p.Pro213=) | |
1 | g.155295465G>T | CA342755480 | PKLR | c.479C>A (p.Pro160Gln) c.287C>A (p.Pro96Gln) c.386C>A (p.Pro129Gln) c.384C>A (n.384C>A) c.638C>A (p.Pro213Gln) | COSMIC |
1 | g.155295466G>A | CA342755482 | PKLR | c.478C>T (p.Pro160Ser) c.286C>T (p.Pro96Ser) c.385C>T (p.Pro129Ser) c.383C>T (n.383C>T) c.637C>T (p.Pro213Ser) | |
1 | g.155295466G>C | CA342755483 | PKLR | c.478C>G (p.Pro160Ala) c.286C>G (p.Pro96Ala) c.385C>G (p.Pro129Ala) c.383C>G (n.383C>G) c.637C>G (p.Pro213Ala) | |
1 | g.155295466G>T | CA342755484 | PKLR | c.478C>A (p.Pro160Thr) c.286C>A (p.Pro96Thr) c.385C>A (p.Pro129Thr) c.383C>A (n.383C>A) c.637C>A (p.Pro213Thr) | |
1 | g.155295467T>A | CA421245816 | PKLR | c.477A>T (p.Gly159=) c.285A>T (p.Gly95=) c.384A>T (p.Gly128=) c.382A>T (n.382A>T) c.636A>T (p.Gly212=) | |
1 | g.155295467T>C | CA421245812 | PKLR | c.477A>G (p.Gly159=) c.285A>G (p.Gly95=) c.384A>G (p.Gly128=) c.382A>G (n.382A>G) c.636A>G (p.Gly212=) | |
1 | g.155295467T>G | CA421245815 | PKLR | c.477A>C (p.Gly159=) c.285A>C (p.Gly95=) c.384A>C (p.Gly128=) c.382A>C (n.382A>C) c.636A>C (p.Gly212=) | |
1 | g.155295468C>A | CA342755485 | PKLR | c.476G>T (p.Gly159Val) c.284G>T (p.Gly95Val) c.383G>T (p.Gly128Val) c.381G>T (n.381G>T) c.635G>T (p.Gly212Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295468C= | CA1200112632 | PKLR | c.476G= (p.Gly159=) c.284G= (p.Gly95=) c.383G= (p.Gly128=) c.381G= (n.381G=) c.635G= (p.Gly212=) | |
1 | g.155295468C>G | CA342755486 | PKLR | c.476G>C (p.Gly159Ala) c.284G>C (p.Gly95Ala) c.383G>C (p.Gly128Ala) c.381G>C (n.381G>C) c.635G>C (p.Gly212Ala) | |
1 | g.155295468C>T | CA342755487 | PKLR | c.476G>A (p.Gly159Glu) c.284G>A (p.Gly95Glu) c.383G>A (p.Gly128Glu) c.381G>A (n.381G>A) c.635G>A (p.Gly212Glu) | gnomAD v4 |
1 | g.155295469C>A | CA342755488 | PKLR | c.475G>T (p.Gly159Ter) c.283G>T (p.Gly95Ter) c.382G>T (p.Gly128Ter) c.380G>T (n.380G>T) c.634G>T (p.Gly212Ter) | |
1 | g.155295469C>G | CA342755489 | PKLR | c.475G>C (p.Gly159Arg) c.283G>C (p.Gly95Arg) c.382G>C (p.Gly128Arg) c.380G>C (n.380G>C) c.634G>C (p.Gly212Arg) | |
1 | g.155295469C>T | CA342755490 | PKLR | c.475G>A (p.Gly159Arg) c.283G>A (p.Gly95Arg) c.382G>A (p.Gly128Arg) c.380G>A (n.380G>A) c.634G>A (p.Gly212Arg) | |
1 | g.155295470C>A | CA342755492 | PKLR | c.474G>T (p.Lys158Asn) c.282G>T (p.Lys94Asn) c.381G>T (p.Lys127Asn) c.379G>T (n.379G>T) c.633G>T (p.Lys211Asn) | |
1 | g.155295470C= | CA1200112633 | PKLR | c.474G= (p.Lys158=) c.282G= (p.Lys94=) c.381G= (p.Lys127=) c.379G= (n.379G=) c.633G= (p.Lys211=) | |
1 | g.155295470C>G | CA342755494 | PKLR | c.474G>C (p.Lys158Asn) c.282G>C (p.Lys94Asn) c.381G>C (p.Lys127Asn) c.379G>C (n.379G>C) c.633G>C (p.Lys211Asn) | |
1 | g.155295470C>T | CA1144331 | PKLR | c.474G>A (p.Lys158=) c.282G>A (p.Lys94=) c.381G>A (p.Lys127=) c.379G>A (n.379G>A) c.633G>A (p.Lys211=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295471T>A | CA342755498 | PKLR | c.473A>T (p.Lys158Met) c.281A>T (p.Lys94Met) c.380A>T (p.Lys127Met) c.378A>T (n.378A>T) c.632A>T (p.Lys211Met) | |
1 | g.155295471T>C | CA30904541 | PKLR | c.473A>G (p.Lys158Arg) c.281A>G (p.Lys94Arg) c.380A>G (p.Lys127Arg) c.378A>G (n.378A>G) c.632A>G (p.Lys211Arg) | dbSNP gnomAD v4 |
1 | g.155295471T>G | CA342755499 | PKLR | c.473A>C (p.Lys158Thr) c.281A>C (p.Lys94Thr) c.380A>C (p.Lys127Thr) c.378A>C (n.378A>C) c.632A>C (p.Lys211Thr) | |
1 | g.155295471T= | CA1200112634 | PKLR | c.473A= (p.Lys158=) c.281A= (p.Lys94=) c.380A= (p.Lys127=) c.378A= (n.378A=) c.632A= (p.Lys211=) | |
1 | g.155295471_155295472del | CA913067767 | PKLR | c.472_473del (p.Lys158GlyfsTer?) c.280_281del (p.Lys94GlyfsTer?) c.379_380del (p.Lys127GlyfsTer?) c.377_378del (n.377_378del) c.631_632del (p.Lys211GlyfsTer?) | |
1 | g.155295472T>A | CA342755503 | PKLR | c.472A>T (p.Lys158Ter) c.280A>T (p.Lys94Ter) c.379A>T (p.Lys127Ter) c.377A>T (n.377A>T) c.631A>T (p.Lys211Ter) | |
1 | g.155295472T>C | CA342755505 | PKLR | c.472A>G (p.Lys158Glu) c.280A>G (p.Lys94Glu) c.379A>G (p.Lys127Glu) c.377A>G (n.377A>G) c.631A>G (p.Lys211Glu) | |
1 | g.155295472T>G | CA342755507 | PKLR | c.472A>C (p.Lys158Gln) c.280A>C (p.Lys94Gln) c.379A>C (p.Lys127Gln) c.377A>C (n.377A>C) c.631A>C (p.Lys211Gln) | |
1 | g.155295473G>A | CA421245835 | PKLR | c.471C>T (p.Thr157=) c.279C>T (p.Thr93=) c.378C>T (p.Thr126=) c.376C>T (n.376C>T) c.630C>T (p.Thr210=) | |
1 | g.155295473G>C | CA421245833 | PKLR | c.471C>G (p.Thr157=) c.279C>G (p.Thr93=) c.378C>G (p.Thr126=) c.376C>G (n.376C>G) c.630C>G (p.Thr210=) | dbSNP gnomAD v4 |
1 | g.155295473G= | CA1200112635 | PKLR | c.471C= (p.Thr157=) c.279C= (p.Thr93=) c.378C= (p.Thr126=) c.376C= (n.376C=) c.630C= (p.Thr210=) | |
1 | g.155295473G>T | CA421245834 | PKLR | c.471C>A (p.Thr157=) c.279C>A (p.Thr93=) c.378C>A (p.Thr126=) c.376C>A (n.376C>A) c.630C>A (p.Thr210=) | gnomAD v4 |
1 | g.155295474G>A | CA342755509 | PKLR | c.470C>T (p.Thr157Ile) c.278C>T (p.Thr93Ile) c.377C>T (p.Thr126Ile) c.375C>T (n.375C>T) c.629C>T (p.Thr210Ile) | |
1 | g.155295474G>C | CA342755511 | PKLR | c.470C>G (p.Thr157Ser) c.278C>G (p.Thr93Ser) c.377C>G (p.Thr126Ser) c.375C>G (n.375C>G) c.629C>G (p.Thr210Ser) | |
1 | g.155295474G>T | CA342755514 | PKLR | c.470C>A (p.Thr157Asn) c.278C>A (p.Thr93Asn) c.377C>A (p.Thr126Asn) c.375C>A (n.375C>A) c.629C>A (p.Thr210Asn) | gnomAD v4 |
1 | g.155295475T>A | CA342755517 | PKLR | c.469A>T (p.Thr157Ser) c.277A>T (p.Thr93Ser) c.376A>T (p.Thr126Ser) c.374A>T (n.374A>T) c.628A>T (p.Thr210Ser) | |
1 | g.155295475T>C | CA30904543 | PKLR | c.469A>G (p.Thr157Ala) c.277A>G (p.Thr93Ala) c.376A>G (p.Thr126Ala) c.374A>G (n.374A>G) c.628A>G (p.Thr210Ala) | dbSNP |
1 | g.155295475T>G | CA1144332 | PKLR | c.469A>C (p.Thr157Pro) c.277A>C (p.Thr93Pro) c.376A>C (p.Thr126Pro) c.374A>C (n.374A>C) c.628A>C (p.Thr210Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295475T= | CA1200112636 | PKLR | c.469A= (p.Thr157=) c.277A= (p.Thr93=) c.376A= (p.Thr126=) c.374A= (n.374A=) c.628A= (p.Thr210=) | |
1 | g.155295476G>A | CA30904548 | PKLR | c.468C>T (p.Asp156=) c.276C>T (p.Asp92=) c.375C>T (p.Asp125=) c.373C>T (n.373C>T) c.627C>T (p.Asp209=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295476G>C | CA342755521 | PKLR | c.468C>G (p.Asp156Glu) c.276C>G (p.Asp92Glu) c.375C>G (p.Asp125Glu) c.373C>G (n.373C>G) c.627C>G (p.Asp209Glu) | |
1 | g.155295476G= | CA1200112637 | PKLR | c.468C= (p.Asp156=) c.276C= (p.Asp92=) c.375C= (p.Asp125=) c.373C= (n.373C=) c.627C= (p.Asp209=) | |
1 | g.155295476G>T | CA342755522 | PKLR | c.468C>A (p.Asp156Glu) c.276C>A (p.Asp92Glu) c.375C>A (p.Asp125Glu) c.373C>A (n.373C>A) c.627C>A (p.Asp209Glu) | |
1 | g.155295477T>A | CA342755529 | PKLR | c.467A>T (p.Asp156Val) c.275A>T (p.Asp92Val) c.374A>T (p.Asp125Val) c.372A>T (n.372A>T) c.626A>T (p.Asp209Val) | |
1 | g.155295477T>C | CA342755527 | PKLR | c.467A>G (p.Asp156Gly) c.275A>G (p.Asp92Gly) c.374A>G (p.Asp125Gly) c.372A>G (n.372A>G) c.626A>G (p.Asp209Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155295477T>G | CA342755525 | PKLR | c.467A>C (p.Asp156Ala) c.275A>C (p.Asp92Ala) c.374A>C (p.Asp125Ala) c.372A>C (n.372A>C) c.626A>C (p.Asp209Ala) | |
1 | g.155295477T= | CA1200112638 | PKLR | c.467A= (p.Asp156=) c.275A= (p.Asp92=) c.374A= (p.Asp125=) c.372A= (n.372A=) c.626A= (p.Asp209=) | |
1 | g.155295478C>A | CA342755532 | PKLR | c.466G>T (p.Asp156Tyr) c.274G>T (p.Asp92Tyr) c.373G>T (p.Asp125Tyr) c.371G>T (n.371G>T) c.625G>T (p.Asp209Tyr) | dbSNP |
1 | g.155295478C= | CA1200112639 | PKLR | c.466G= (p.Asp156=) c.274G= (p.Asp92=) c.373G= (p.Asp125=) c.371G= (n.371G=) c.625G= (p.Asp209=) | |
1 | g.155295478C>G | CA342755534 | PKLR | c.466G>C (p.Asp156His) c.274G>C (p.Asp92His) c.373G>C (p.Asp125His) c.371G>C (n.371G>C) c.625G>C (p.Asp209His) | dbSNP |
1 | g.155295478C>T | CA342755536 | PKLR | c.466G>A (p.Asp156Asn) c.274G>A (p.Asp92Asn) c.373G>A (p.Asp125Asn) c.371G>A (n.371G>A) c.625G>A (p.Asp209Asn) | |
1 | g.155295478_155295479del | CA2648264777 | PKLR | c.465_466del (p.Asp156HisfsTer?) c.273_274del (p.Asp92HisfsTer?) c.372_373del (p.Asp125HisfsTer?) c.370_371del (n.370_371del) c.624_625del (p.Asp209HisfsTer?) | gnomAD v4 |
1 | g.155295479C>A | CA421245843 | PKLR | c.465G>T (p.Leu155=) c.273G>T (p.Leu91=) c.372G>T (p.Leu124=) c.370G>T (n.370G>T) c.624G>T (p.Leu208=) | gnomAD v4 |
1 | g.155295479C>G | CA421245844 | PKLR | c.465G>C (p.Leu155=) c.273G>C (p.Leu91=) c.372G>C (p.Leu124=) c.370G>C (n.370G>C) c.624G>C (p.Leu208=) | |
1 | g.155295479C>T | CA421245845 | PKLR | c.465G>A (p.Leu155=) c.273G>A (p.Leu91=) c.372G>A (p.Leu124=) c.370G>A (n.370G>A) c.624G>A (p.Leu208=) | |
1 | g.155295480A>C | CA342755539 | PKLR | c.464T>G (p.Leu155Arg) c.272T>G (p.Leu91Arg) c.371T>G (p.Leu124Arg) c.369T>G (n.369T>G) c.623T>G (p.Leu208Arg) | |
1 | g.155295480A>G | CA342755540 | PKLR | c.464T>C (p.Leu155Pro) c.272T>C (p.Leu91Pro) c.371T>C (p.Leu124Pro) c.369T>C (n.369T>C) c.623T>C (p.Leu208Pro) | gnomAD v4 |
1 | g.155295480A>T | CA342755542 | PKLR | c.464T>A (p.Leu155Gln) c.272T>A (p.Leu91Gln) c.371T>A (p.Leu124Gln) c.369T>A (n.369T>A) c.623T>A (p.Leu208Gln) | |
1 | g.155295481G>A | CA1144333 | PKLR | c.463C>T (p.Leu155=) c.271C>T (p.Leu91=) c.370C>T (p.Leu124=) c.368C>T (n.368C>T) c.622C>T (p.Leu208=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295481G>C | CA342755544 | PKLR | c.463C>G (p.Leu155Val) c.271C>G (p.Leu91Val) c.370C>G (p.Leu124Val) c.368C>G (n.368C>G) c.622C>G (p.Leu208Val) | |
1 | g.155295481G= | CA1200112640 | PKLR | c.463C= (p.Leu155=) c.271C= (p.Leu91=) c.370C= (p.Leu124=) c.368C= (n.368C=) c.622C= (p.Leu208=) | |
1 | g.155295481G>T | CA342755545 | PKLR | c.463C>A (p.Leu155Met) c.271C>A (p.Leu91Met) c.370C>A (p.Leu124Met) c.368C>A (n.368C>A) c.622C>A (p.Leu208Met) | |
1 | g.155295482G>A | CA421245851 | PKLR | c.462C>T (p.Ala154=) c.270C>T (p.Ala90=) c.369C>T (p.Ala123=) c.367C>T (n.367C>T) c.621C>T (p.Ala207=) | |
1 | g.155295482G>C | CA421245853 | PKLR | c.462C>G (p.Ala154=) c.270C>G (p.Ala90=) c.369C>G (p.Ala123=) c.367C>G (n.367C>G) c.621C>G (p.Ala207=) | |
1 | g.155295482G>T | CA421245855 | PKLR | c.462C>A (p.Ala154=) c.270C>A (p.Ala90=) c.369C>A (p.Ala123=) c.367C>A (n.367C>A) c.621C>A (p.Ala207=) | |
1 | g.155295485_155295490del | CA2830782445 | PKLR | c.457_462del (p.Ile153_Ala154del) c.265_270del (p.Ile89_Ala90del) c.364_369del (p.Ile122_Ala123del) c.362_367del (n.362_367del) c.616_621del (p.Ile206_Ala207del) | |
1 | g.155295483G>A | CA342755548 | PKLR | c.461C>T (p.Ala154Val) c.269C>T (p.Ala90Val) c.368C>T (p.Ala123Val) c.366C>T (n.366C>T) c.620C>T (p.Ala207Val) | |
1 | g.155295483G>C | CA342755549 | PKLR | c.461C>G (p.Ala154Gly) c.269C>G (p.Ala90Gly) c.368C>G (p.Ala123Gly) c.366C>G (n.366C>G) c.620C>G (p.Ala207Gly) | |
1 | g.155295483G>T | CA342755551 | PKLR | c.461C>A (p.Ala154Asp) c.269C>A (p.Ala90Asp) c.368C>A (p.Ala123Asp) c.366C>A (n.366C>A) c.620C>A (p.Ala207Asp) | |
1 | g.155295484C>A | CA342755558 | PKLR | c.460G>T (p.Ala154Ser) c.268G>T (p.Ala90Ser) c.367G>T (p.Ala123Ser) c.365G>T (n.365G>T) c.619G>T (p.Ala207Ser) | gnomAD v4 |
1 | g.155295484C= | CA1200112641 | PKLR | c.460G= (p.Ala154=) c.268G= (p.Ala90=) c.367G= (p.Ala123=) c.365G= (n.365G=) c.619G= (p.Ala207=) | |
1 | g.155295484C>G | CA342755556 | PKLR | c.460G>C (p.Ala154Pro) c.268G>C (p.Ala90Pro) c.367G>C (p.Ala123Pro) c.365G>C (n.365G>C) c.619G>C (p.Ala207Pro) | dbSNP |
1 | g.155295484C>T | CA1144334 | PKLR | c.460G>A (p.Ala154Thr) c.268G>A (p.Ala90Thr) c.367G>A (p.Ala123Thr) c.365G>A (n.365G>A) c.619G>A (p.Ala207Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295485G>A | CA421245862 | PKLR | c.459C>T (p.Ile153=) c.267C>T (p.Ile89=) c.366C>T (p.Ile122=) c.364C>T (n.364C>T) c.618C>T (p.Ile206=) | |
1 | g.155295485G>C | CA342755560 | PKLR | c.459C>G (p.Ile153Met) c.267C>G (p.Ile89Met) c.366C>G (p.Ile122Met) c.364C>G (n.364C>G) c.618C>G (p.Ile206Met) | |
1 | g.155295485G>T | CA421245863 | PKLR | c.459C>A (p.Ile153=) c.267C>A (p.Ile89=) c.366C>A (p.Ile122=) c.364C>A (n.364C>A) c.618C>A (p.Ile206=) | gnomAD v4 |
1 | g.155295486A>C | CA342755566 | PKLR | c.458T>G (p.Ile153Ser) c.266T>G (p.Ile89Ser) c.365T>G (p.Ile122Ser) c.363T>G (n.363T>G) c.617T>G (p.Ile206Ser) | |
1 | g.155295486A>G | CA342755562 | PKLR | c.458T>C (p.Ile153Thr) c.266T>C (p.Ile89Thr) c.365T>C (p.Ile122Thr) c.363T>C (n.363T>C) c.617T>C (p.Ile206Thr) | |
1 | g.155295486A>T | CA342755565 | PKLR | c.458T>A (p.Ile153Asn) c.266T>A (p.Ile89Asn) c.365T>A (p.Ile122Asn) c.363T>A (n.363T>A) c.617T>A (p.Ile206Asn) | |
1 | g.155295487T>A | CA342755569 | PKLR | c.457A>T (p.Ile153Phe) c.265A>T (p.Ile89Phe) c.364A>T (p.Ile122Phe) c.362A>T (n.362A>T) c.616A>T (p.Ile206Phe) | |
1 | g.155295487T>C | CA342755571 | PKLR | c.457A>G (p.Ile153Val) c.265A>G (p.Ile89Val) c.364A>G (p.Ile122Val) c.362A>G (n.362A>G) c.616A>G (p.Ile206Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295487T>G | CA342755572 | PKLR | c.457A>C (p.Ile153Leu) c.265A>C (p.Ile89Leu) c.364A>C (p.Ile122Leu) c.362A>C (n.362A>C) c.616A>C (p.Ile206Leu) | |
1 | g.155295487T= | CA1200112642 | PKLR | c.457A= (p.Ile153=) c.265A= (p.Ile89=) c.364A= (p.Ile122=) c.362A= (n.362A=) c.616A= (p.Ile206=) | |
1 | g.155295488G>A | CA421245870 | PKLR | c.456C>T (p.Ala152=) c.264C>T (p.Ala88=) c.363C>T (p.Ala121=) c.361C>T (n.361C>T) c.615C>T (p.Ala205=) | |
1 | g.155295488G>C | CA421245872 | PKLR | c.456C>G (p.Ala152=) c.264C>G (p.Ala88=) c.363C>G (p.Ala121=) c.361C>G (n.361C>G) c.615C>G (p.Ala205=) | |
1 | g.155295488G>T | CA421245874 | PKLR | c.456C>A (p.Ala152=) c.264C>A (p.Ala88=) c.363C>A (p.Ala121=) c.361C>A (n.361C>A) c.615C>A (p.Ala205=) | |
1 | g.155295489G>A | CA342755577 | PKLR | c.455C>T (p.Ala152Val) c.263C>T (p.Ala88Val) c.362C>T (p.Ala121Val) c.360C>T (n.360C>T) c.614C>T (p.Ala205Val) | |
1 | g.155295489G>C | CA1144335 | PKLR | c.455C>G (p.Ala152Gly) c.263C>G (p.Ala88Gly) c.362C>G (p.Ala121Gly) c.360C>G (n.360C>G) c.614C>G (p.Ala205Gly) | dbSNP ExAC gnomAD v2 |
1 | g.155295489G= | CA1200112643 | PKLR | c.455C= (p.Ala152=) c.263C= (p.Ala88=) c.362C= (p.Ala121=) c.360C= (n.360C=) c.614C= (p.Ala205=) | |
1 | g.155295489G>T | CA342755575 | PKLR | c.455C>A (p.Ala152Asp) c.263C>A (p.Ala88Asp) c.362C>A (p.Ala121Asp) c.360C>A (n.360C>A) c.614C>A (p.Ala205Asp) | |
1 | g.155295490C>A | CA342755579 | PKLR | c.454G>T (p.Ala152Ser) c.262G>T (p.Ala88Ser) c.361G>T (p.Ala121Ser) c.359G>T (n.359G>T) c.613G>T (p.Ala205Ser) | |
1 | g.155295490C>G | CA342755581 | PKLR | c.454G>C (p.Ala152Pro) c.262G>C (p.Ala88Pro) c.361G>C (p.Ala121Pro) c.359G>C (n.359G>C) c.613G>C (p.Ala205Pro) | |
1 | g.155295490C>T | CA342755582 | PKLR | c.454G>A (p.Ala152Thr) c.262G>A (p.Ala88Thr) c.361G>A (p.Ala121Thr) c.359G>A (n.359G>A) c.613G>A (p.Ala205Thr) | |
1 | g.155295491C>A | CA421245764 | PKLR | c.453G>T (p.Val151=) c.261G>T (p.Val87=) c.360G>T (p.Val120=) c.358G>T (n.358G>T) c.612G>T (p.Val204=) | COSMIC |
1 | g.155295491C= | CA1200112644 | PKLR | c.453G= (p.Val151=) c.261G= (p.Val87=) c.360G= (p.Val120=) c.358G= (n.358G=) c.612G= (p.Val204=) | |
1 | g.155295491C>G | CA421245766 | PKLR | c.453G>C (p.Val151=) c.261G>C (p.Val87=) c.360G>C (p.Val120=) c.358G>C (n.358G>C) c.612G>C (p.Val204=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295491C>T | CA421245768 | PKLR | c.453G>A (p.Val151=) c.261G>A (p.Val87=) c.360G>A (p.Val120=) c.358G>A (n.358G>A) c.612G>A (p.Val204=) | |
1 | g.155295492A>C | CA342755585 | PKLR | c.452T>G (p.Val151Gly) c.260T>G (p.Val87Gly) c.359T>G (p.Val120Gly) c.357T>G (n.357T>G) c.611T>G (p.Val204Gly) | |
1 | g.155295492A>G | CA342755586 | PKLR | c.452T>C (p.Val151Ala) c.260T>C (p.Val87Ala) c.359T>C (p.Val120Ala) c.357T>C (n.357T>C) c.611T>C (p.Val204Ala) | |
1 | g.155295492A>T | CA342755588 | PKLR | c.452T>A (p.Val151Glu) c.260T>A (p.Val87Glu) c.359T>A (p.Val120Glu) c.357T>A (n.357T>A) c.611T>A (p.Val204Glu) | |
1 | g.155295493C>A | CA342755591 | PKLR | c.451G>T (p.Val151Leu) c.259G>T (p.Val87Leu) c.358G>T (p.Val120Leu) c.356G>T (n.356G>T) c.610G>T (p.Val204Leu) | dbSNP gnomAD v2 |
1 | g.155295493C= | CA1200112645 | PKLR | c.451G= (p.Val151=) c.259G= (p.Val87=) c.358G= (p.Val120=) c.356G= (n.356G=) c.610G= (p.Val204=) | |
1 | g.155295493C>G | CA342755594 | PKLR | c.451G>C (p.Val151Leu) c.259G>C (p.Val87Leu) c.358G>C (p.Val120Leu) c.356G>C (n.356G>C) c.610G>C (p.Val204Leu) | |
1 | g.155295493C>T | CA342755592 | PKLR | c.451G>A (p.Val151Met) c.259G>A (p.Val87Met) c.358G>A (p.Val120Met) c.356G>A (n.356G>A) c.610G>A (p.Val204Met) | ClinVar dbSNP gnomAD v2 |
1 | g.155295494G>A | CA421245773 | PKLR | c.450C>T (p.Pro150=) c.258C>T (p.Pro86=) c.357C>T (p.Pro119=) c.355C>T (n.355C>T) c.609C>T (p.Pro203=) | COSMIC |
1 | g.155295494G>C | CA421245775 | PKLR | c.450C>G (p.Pro150=) c.258C>G (p.Pro86=) c.357C>G (p.Pro119=) c.355C>G (n.355C>G) c.609C>G (p.Pro203=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295494G= | CA1200112646 | PKLR | c.450C= (p.Pro150=) c.258C= (p.Pro86=) c.357C= (p.Pro119=) c.355C= (n.355C=) c.609C= (p.Pro203=) | |
1 | g.155295494G>T | CA421245774 | PKLR | c.450C>A (p.Pro150=) c.258C>A (p.Pro86=) c.357C>A (p.Pro119=) c.355C>A (n.355C>A) c.609C>A (p.Pro203=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295495G>A | CA342755595 | PKLR | c.449C>T (p.Pro150Leu) c.257C>T (p.Pro86Leu) c.356C>T (p.Pro119Leu) c.354C>T (n.354C>T) c.608C>T (p.Pro203Leu) | gnomAD v4 |
1 | g.155295495G>C | CA342755596 | PKLR | c.449C>G (p.Pro150Arg) c.257C>G (p.Pro86Arg) c.356C>G (p.Pro119Arg) c.354C>G (n.354C>G) c.608C>G (p.Pro203Arg) | |
1 | g.155295495G>T | CA342755597 | PKLR | c.449C>A (p.Pro150His) c.257C>A (p.Pro86His) c.356C>A (p.Pro119His) c.354C>A (n.354C>A) c.608C>A (p.Pro203His) | |
1 | g.155295496G>A | CA342755598 | PKLR | c.448C>T (p.Pro150Ser) c.256C>T (p.Pro86Ser) c.355C>T (p.Pro119Ser) c.353C>T (n.353C>T) c.607C>T (p.Pro203Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295496G>C | CA342755599 | PKLR | c.448C>G (p.Pro150Ala) c.256C>G (p.Pro86Ala) c.355C>G (p.Pro119Ala) c.353C>G (n.353C>G) c.607C>G (p.Pro203Ala) | |
1 | g.155295496G= | CA1200112647 | PKLR | c.448C= (p.Pro150=) c.256C= (p.Pro86=) c.355C= (p.Pro119=) c.353C= (n.353C=) c.607C= (p.Pro203=) | |
1 | g.155295496G>T | CA342755600 | PKLR | c.448C>A (p.Pro150Thr) c.256C>A (p.Pro86Thr) c.355C>A (p.Pro119Thr) c.353C>A (n.353C>A) c.607C>A (p.Pro203Thr) | |
1 | g.155295497C>A | CA421245780 | PKLR | c.447G>T (p.Arg149=) c.255G>T (p.Arg85=) c.354G>T (p.Arg118=) c.352G>T (n.352G>T) c.606G>T (p.Arg202=) | |
1 | g.155295497C= | CA1200112648 | PKLR | c.447G= (p.Arg149=) c.255G= (p.Arg85=) c.354G= (p.Arg118=) c.352G= (n.352G=) c.606G= (p.Arg202=) | |
1 | g.155295497C>G | CA421245781 | PKLR | c.447G>C (p.Arg149=) c.255G>C (p.Arg85=) c.354G>C (p.Arg118=) c.352G>C (n.352G>C) c.606G>C (p.Arg202=) | |
1 | g.155295497C>T | CA421245783 | PKLR | c.447G>A (p.Arg149=) c.255G>A (p.Arg85=) c.354G>A (p.Arg118=) c.352G>A (n.352G>A) c.606G>A (p.Arg202=) | dbSNP gnomAD v2 |
1 | g.155295498C>A | CA342755601 | PKLR | c.446G>T (p.Arg149Leu) c.254G>T (p.Arg85Leu) c.353G>T (p.Arg118Leu) c.351G>T (n.351G>T) c.605G>T (p.Arg202Leu) | gnomAD v4 |
1 | g.155295498C= | CA1200112649 | PKLR | c.446G= (p.Arg149=) c.254G= (p.Arg85=) c.353G= (p.Arg118=) c.351G= (n.351G=) c.605G= (p.Arg202=) | |
1 | g.155295498C>G | CA342755603 | PKLR | c.446G>C (p.Arg149Pro) c.254G>C (p.Arg85Pro) c.353G>C (p.Arg118Pro) c.351G>C (n.351G>C) c.605G>C (p.Arg202Pro) | gnomAD v4 |
1 | g.155295498C>T | CA30904573 | PKLR | c.446G>A (p.Arg149Gln) c.254G>A (p.Arg85Gln) c.353G>A (p.Arg118Gln) c.351G>A (n.351G>A) c.605G>A (p.Arg202Gln) | dbSNP |
1 | g.155295499G>A | CA342755608 | PKLR | c.445C>T (p.Arg149Trp) c.253C>T (p.Arg85Trp) c.352C>T (p.Arg118Trp) c.350C>T (n.350C>T) c.604C>T (p.Arg202Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295499G>C | CA342755609 | PKLR | c.445C>G (p.Arg149Gly) c.253C>G (p.Arg85Gly) c.352C>G (p.Arg118Gly) c.350C>G (n.350C>G) c.604C>G (p.Arg202Gly) | |
1 | g.155295499G= | CA1200112650 | PKLR | c.445C= (p.Arg149=) c.253C= (p.Arg85=) c.352C= (p.Arg118=) c.350C= (n.350C=) c.604C= (p.Arg202=) | |
1 | g.155295499G>T | CA421245787 | PKLR | c.445C>A (p.Arg149=) c.253C>A (p.Arg85=) c.352C>A (p.Arg118=) c.350C>A (n.350C>A) c.604C>A (p.Arg202=) | gnomAD v4 |
1 | g.155295500del | CA2648264843 | PKLR | c.445del (p.Arg149GlyfsTer30) c.253del (p.Arg85GlyfsTer30) c.352del (p.Arg118GlyfsTer30) c.350del (n.350del) c.604del (p.Arg202GlyfsTer30) | gnomAD v4 |
1 | g.155295500G>A | CA421245789 | PKLR | c.444C>T (p.Tyr148=) c.252C>T (p.Tyr84=) c.351C>T (p.Tyr117=) c.349C>T (n.349C>T) c.603C>T (p.Tyr201=) | dbSNP gnomAD v4 |
1 | g.155295500G>C | CA342755611 | PKLR | c.444C>G (p.Tyr148Ter) c.252C>G (p.Tyr84Ter) c.351C>G (p.Tyr117Ter) c.349C>G (n.349C>G) c.603C>G (p.Tyr201Ter) | |
1 | g.155295500G= | CA1200112651 | PKLR | c.444C= (p.Tyr148=) c.252C= (p.Tyr84=) c.351C= (p.Tyr117=) c.349C= (n.349C=) c.603C= (p.Tyr201=) | |
1 | g.155295500G>T | CA342755613 | PKLR | c.444C>A (p.Tyr148Ter) c.252C>A (p.Tyr84Ter) c.351C>A (p.Tyr117Ter) c.349C>A (n.349C>A) c.603C>A (p.Tyr201Ter) | |
1 | g.155295501T>A | CA342755615 | PKLR | c.443A>T (p.Tyr148Phe) c.251A>T (p.Tyr84Phe) c.350A>T (p.Tyr117Phe) c.348A>T (n.348A>T) c.602A>T (p.Tyr201Phe) | |
1 | g.155295501T>C | CA342755617 | PKLR | c.443A>G (p.Tyr148Cys) c.251A>G (p.Tyr84Cys) c.350A>G (p.Tyr117Cys) c.348A>G (n.348A>G) c.602A>G (p.Tyr201Cys) | |
1 | g.155295501T>G | CA342755619 | PKLR | c.443A>C (p.Tyr148Ser) c.251A>C (p.Tyr84Ser) c.350A>C (p.Tyr117Ser) c.348A>C (n.348A>C) c.602A>C (p.Tyr201Ser) | |
1 | g.155295502A>C | CA342755621 | PKLR | c.442T>G (p.Tyr148Asp) c.250T>G (p.Tyr84Asp) c.349T>G (p.Tyr117Asp) c.347T>G (n.347T>G) c.601T>G (p.Tyr201Asp) | |
1 | g.155295502A>G | CA342755623 | PKLR | c.442T>C (p.Tyr148His) c.250T>C (p.Tyr84His) c.349T>C (p.Tyr117His) c.347T>C (n.347T>C) c.601T>C (p.Tyr201His) | |
1 | g.155295502A>T | CA342755629 | PKLR | c.442T>A (p.Tyr148Asn) c.250T>A (p.Tyr84Asn) c.349T>A (p.Tyr117Asn) c.347T>A (n.347T>A) c.601T>A (p.Tyr201Asn) | |
1 | g.155295503G>A | CA421245794 | PKLR | c.441C>T (p.Ser147=) c.249C>T (p.Ser83=) c.348C>T (p.Ser116=) c.346C>T (n.346C>T) c.600C>T (p.Ser200=) | |
1 | g.155295503G>C | CA342755633 | PKLR | c.441C>G (p.Ser147Arg) c.249C>G (p.Ser83Arg) c.348C>G (p.Ser116Arg) c.346C>G (n.346C>G) c.600C>G (p.Ser200Arg) | |
1 | g.155295503G>T | CA342755631 | PKLR | c.441C>A (p.Ser147Arg) c.249C>A (p.Ser83Arg) c.348C>A (p.Ser116Arg) c.346C>A (n.346C>A) c.600C>A (p.Ser200Arg) | |
1 | g.155295504C>A | CA342755636 | PKLR | c.440G>T (p.Ser147Ile) c.248G>T (p.Ser83Ile) c.347G>T (p.Ser116Ile) c.345G>T (n.345G>T) c.599G>T (p.Ser200Ile) | |
1 | g.155295504C= | CA1200112652 | PKLR | c.440G= (p.Ser147=) c.248G= (p.Ser83=) c.347G= (p.Ser116=) c.345G= (n.345G=) c.599G= (p.Ser200=) | |
1 | g.155295504C>G | CA342755638 | PKLR | c.440G>C (p.Ser147Thr) c.248G>C (p.Ser83Thr) c.347G>C (p.Ser116Thr) c.345G>C (n.345G>C) c.599G>C (p.Ser200Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295504C>T | CA342755640 | PKLR | c.440G>A (p.Ser147Asn) c.248G>A (p.Ser83Asn) c.347G>A (p.Ser116Asn) c.345G>A (n.345G>A) c.599G>A (p.Ser200Asn) | |
1 | g.155295505del | CA2586967549 | PKLR | c.439del (p.Ser147AlafsTer?) c.247del (p.Ser83AlafsTer?) c.346del (p.Ser116AlafsTer?) c.344del (n.344del) c.598del (p.Ser200AlafsTer?) | |
1 | g.155295505T>A | CA342755643 | PKLR | c.439A>T (p.Ser147Cys) c.247A>T (p.Ser83Cys) c.346A>T (p.Ser116Cys) c.344A>T (n.344A>T) c.598A>T (p.Ser200Cys) | dbSNP gnomAD v2 |
1 | g.155295505T>C | CA342755645 | PKLR | c.439A>G (p.Ser147Gly) c.247A>G (p.Ser83Gly) c.346A>G (p.Ser116Gly) c.344A>G (n.344A>G) c.598A>G (p.Ser200Gly) | gnomAD v4 |
1 | g.155295505T>G | CA342755646 | PKLR | c.439A>C (p.Ser147Arg) c.247A>C (p.Ser83Arg) c.346A>C (p.Ser116Arg) c.344A>C (n.344A>C) c.598A>C (p.Ser200Arg) | |
1 | g.155295505T= | CA1200112653 | PKLR | c.439A= (p.Ser147=) c.247A= (p.Ser83=) c.346A= (p.Ser116=) c.344A= (n.344A=) c.598A= (p.Ser200=) | |
1 | g.155295506G>A | CA421245800 | PKLR | c.438C>T (p.Leu146=) c.246C>T (p.Leu82=) c.345C>T (p.Leu115=) c.343C>T (n.343C>T) c.597C>T (p.Leu199=) | gnomAD v4 |
1 | g.155295506G>C | CA421245804 | PKLR | c.438C>G (p.Leu146=) c.246C>G (p.Leu82=) c.345C>G (p.Leu115=) c.343C>G (n.343C>G) c.597C>G (p.Leu199=) | |
1 | g.155295506G>T | CA421245802 | PKLR | c.438C>A (p.Leu146=) c.246C>A (p.Leu82=) c.345C>A (p.Leu115=) c.343C>A (n.343C>A) c.597C>A (p.Leu199=) | |
1 | g.155295507A>C | CA342755649 | PKLR | c.437T>G (p.Leu146Arg) c.245T>G (p.Leu82Arg) c.344T>G (p.Leu115Arg) c.342T>G (n.342T>G) c.596T>G (p.Leu199Arg) | |
1 | g.155295507A>G | CA342755653 | PKLR | c.437T>C (p.Leu146Pro) c.245T>C (p.Leu82Pro) c.344T>C (p.Leu115Pro) c.342T>C (n.342T>C) c.596T>C (p.Leu199Pro) | |
1 | g.155295507A>T | CA342755651 | PKLR | c.437T>A (p.Leu146His) c.245T>A (p.Leu82His) c.344T>A (p.Leu115His) c.342T>A (n.342T>A) c.596T>A (p.Leu199His) | |
1 | g.155295508G>A | CA342755656 | PKLR | c.436C>T (p.Leu146Phe) c.244C>T (p.Leu82Phe) c.343C>T (p.Leu115Phe) c.341C>T (n.341C>T) c.595C>T (p.Leu199Phe) | |
1 | g.155295508G>C | CA342755658 | PKLR | c.436C>G (p.Leu146Val) c.244C>G (p.Leu82Val) c.343C>G (p.Leu115Val) c.341C>G (n.341C>G) c.595C>G (p.Leu199Val) | gnomAD v4 |
1 | g.155295508G>T | CA342755660 | PKLR | c.436C>A (p.Leu146Ile) c.244C>A (p.Leu82Ile) c.343C>A (p.Leu115Ile) c.341C>A (n.341C>A) c.595C>A (p.Leu199Ile) | |
1 | g.155295509T>A | CA421245809 | PKLR | c.435A>T (p.Pro145=) c.243A>T (p.Pro81=) c.342A>T (p.Pro114=) c.340A>T (n.340A>T) c.594A>T (p.Pro198=) | |
1 | g.155295509T>C | CA421245811 | PKLR | c.435A>G (p.Pro145=) c.243A>G (p.Pro81=) c.342A>G (p.Pro114=) c.340A>G (n.340A>G) c.594A>G (p.Pro198=) | gnomAD v4 |
1 | g.155295509T>G | CA421245814 | PKLR | c.435A>C (p.Pro145=) c.243A>C (p.Pro81=) c.342A>C (p.Pro114=) c.340A>C (n.340A>C) c.594A>C (p.Pro198=) | |
1 | g.155295509T= | CA1200112654 | PKLR | c.435A= (p.Pro145=) c.243A= (p.Pro81=) c.342A= (p.Pro114=) c.340A= (n.340A=) c.594A= (p.Pro198=) | |
1 | g.155295510G>A | CA342755663 | PKLR | c.434C>T (p.Pro145Leu) c.242C>T (p.Pro81Leu) c.341C>T (p.Pro114Leu) c.339C>T (n.339C>T) c.593C>T (p.Pro198Leu) | dbSNP gnomAD v4 |
1 | g.155295510G>C | CA342755665 | PKLR | c.434C>G (p.Pro145Arg) c.242C>G (p.Pro81Arg) c.341C>G (p.Pro114Arg) c.339C>G (n.339C>G) c.593C>G (p.Pro198Arg) | |
1 | g.155295510G= | CA1200112655 | PKLR | c.434C= (p.Pro145=) c.242C= (p.Pro81=) c.341C= (p.Pro114=) c.339C= (n.339C=) c.593C= (p.Pro198=) | |
1 | g.155295510G>T | CA342755667 | PKLR | c.434C>A (p.Pro145Gln) c.242C>A (p.Pro81Gln) c.341C>A (p.Pro114Gln) c.339C>A (n.339C>A) c.593C>A (p.Pro198Gln) | gnomAD v4 |
1 | g.155295513dup | CA526668645 | PKLR | c.434dup (p.Leu146ThrfsTer?) c.242dup (p.Leu82ThrfsTer?) c.341dup (p.Leu115ThrfsTer?) c.339dup (n.339dup) c.593dup (p.Leu199ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295513del | CA2586967550 | PKLR | c.434del (p.Pro145HisfsTer?) c.242del (p.Pro81HisfsTer?) c.341del (p.Pro114HisfsTer?) c.339del (n.339del) c.593del (p.Pro198HisfsTer?) | |
1 | g.155295511G>A | CA342755669 | PKLR | c.433C>T (p.Pro145Ser) c.241C>T (p.Pro81Ser) c.340C>T (p.Pro114Ser) c.338C>T (n.338C>T) c.592C>T (p.Pro198Ser) | gnomAD v4 |
1 | g.155295511G>C | CA342755671 | PKLR | c.433C>G (p.Pro145Ala) c.241C>G (p.Pro81Ala) c.340C>G (p.Pro114Ala) c.338C>G (n.338C>G) c.592C>G (p.Pro198Ala) | |
1 | g.155295511G>T | CA342755673 | PKLR | c.433C>A (p.Pro145Thr) c.241C>A (p.Pro81Thr) c.340C>A (p.Pro114Thr) c.338C>A (n.338C>A) c.592C>A (p.Pro198Thr) | |
1 | g.155295512G>A | CA1144336 | PKLR | c.432C>T (p.Ser144=) c.240C>T (p.Ser80=) c.339C>T (p.Ser113=) c.337C>T (n.337C>T) c.591C>T (p.Ser197=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295512G>C | CA421245820 | PKLR | c.432C>G (p.Ser144=) c.240C>G (p.Ser80=) c.339C>G (p.Ser113=) c.337C>G (n.337C>G) c.591C>G (p.Ser197=) | |
1 | g.155295512G= | CA1200112656 | PKLR | c.432C= (p.Ser144=) c.240C= (p.Ser80=) c.339C= (p.Ser113=) c.337C= (n.337C=) c.591C= (p.Ser197=) | |
1 | g.155295512G>T | CA421245822 | PKLR | c.432C>A (p.Ser144=) c.240C>A (p.Ser80=) c.339C>A (p.Ser113=) c.337C>A (n.337C>A) c.591C>A (p.Ser197=) | dbSNP gnomAD v4 |
1 | g.155295513G>A | CA342755680 | PKLR | c.431C>T (p.Ser144Phe) c.239C>T (p.Ser80Phe) c.338C>T (p.Ser113Phe) c.336C>T (n.336C>T) c.590C>T (p.Ser197Phe) | |
1 | g.155295513G>C | CA342755678 | PKLR | c.431C>G (p.Ser144Cys) c.239C>G (p.Ser80Cys) c.338C>G (p.Ser113Cys) c.336C>G (n.336C>G) c.590C>G (p.Ser197Cys) | dbSNP |
1 | g.155295513G= | CA1200112657 | PKLR | c.431C= (p.Ser144=) c.239C= (p.Ser80=) c.338C= (p.Ser113=) c.336C= (n.336C=) c.590C= (p.Ser197=) | |
1 | g.155295513G>T | CA342755676 | PKLR | c.431C>A (p.Ser144Tyr) c.239C>A (p.Ser80Tyr) c.338C>A (p.Ser113Tyr) c.336C>A (n.336C>A) c.590C>A (p.Ser197Tyr) | |
1 | g.155295514A>C | CA342755682 | PKLR | c.430T>G (p.Ser144Ala) c.238T>G (p.Ser80Ala) c.337T>G (p.Ser113Ala) c.335T>G (n.335T>G) c.589T>G (p.Ser197Ala) | |
1 | g.155295514A>G | CA342755686 | PKLR | c.430T>C (p.Ser144Pro) c.238T>C (p.Ser80Pro) c.337T>C (p.Ser113Pro) c.335T>C (n.335T>C) c.589T>C (p.Ser197Pro) | |
1 | g.155295514A>T | CA342755684 | PKLR | c.430T>A (p.Ser144Thr) c.238T>A (p.Ser80Thr) c.337T>A (p.Ser113Thr) c.335T>A (n.335T>A) c.589T>A (p.Ser197Thr) | |
1 | g.155295515A>C | CA421245827 | PKLR | c.429T>G (p.Gly143=) c.237T>G (p.Gly79=) c.336T>G (p.Gly112=) c.334T>G (n.334T>G) c.588T>G (p.Gly196=) | |
1 | g.155295515A>G | CA421245825 | PKLR | c.429T>C (p.Gly143=) c.237T>C (p.Gly79=) c.336T>C (p.Gly112=) c.334T>C (n.334T>C) c.588T>C (p.Gly196=) | |
1 | g.155295515A>T | CA421245823 | PKLR | c.429T>A (p.Gly143=) c.237T>A (p.Gly79=) c.336T>A (p.Gly112=) c.334T>A (n.334T>A) c.588T>A (p.Gly196=) | |
1 | g.155295516C>A | CA342755690 | PKLR | c.428G>T (p.Gly143Val) c.236G>T (p.Gly79Val) c.335G>T (p.Gly112Val) c.333G>T (n.333G>T) c.587G>T (p.Gly196Val) | |
1 | g.155295516C>G | CA342755693 | PKLR | c.428G>C (p.Gly143Ala) c.236G>C (p.Gly79Ala) c.335G>C (p.Gly112Ala) c.333G>C (n.333G>C) c.587G>C (p.Gly196Ala) | |
1 | g.155295516C>T | CA342755692 | PKLR | c.428G>A (p.Gly143Asp) c.236G>A (p.Gly79Asp) c.335G>A (p.Gly112Asp) c.333G>A (n.333G>A) c.587G>A (p.Gly196Asp) | |
1 | g.155295517C>A | CA342755697 | PKLR | c.427G>T (p.Gly143Cys) c.235G>T (p.Gly79Cys) c.334G>T (p.Gly112Cys) c.332G>T (n.332G>T) c.586G>T (p.Gly196Cys) | |
1 | g.155295517C>G | CA342755701 | PKLR | c.427G>C (p.Gly143Arg) c.235G>C (p.Gly79Arg) c.334G>C (p.Gly112Arg) c.332G>C (n.332G>C) c.586G>C (p.Gly196Arg) | dbSNP |
1 | g.155295517C>T | CA342755698 | PKLR | c.427G>A (p.Gly143Ser) c.235G>A (p.Gly79Ser) c.334G>A (p.Gly112Ser) c.332G>A (n.332G>A) c.586G>A (p.Gly196Ser) | |
1 | g.155295518T>A | CA421245830 | PKLR | c.426A>T (p.Ala142=) c.234A>T (p.Ala78=) c.333A>T (p.Ala111=) c.331A>T (n.331A>T) c.585A>T (p.Ala195=) | |
1 | g.155295518T>C | CA421245831 | PKLR | c.426A>G (p.Ala142=) c.234A>G (p.Ala78=) c.333A>G (p.Ala111=) c.331A>G (n.331A>G) c.585A>G (p.Ala195=) | |
1 | g.155295518T>G | CA421245832 | PKLR | c.426A>C (p.Ala142=) c.234A>C (p.Ala78=) c.333A>C (p.Ala111=) c.331A>C (n.331A>C) c.585A>C (p.Ala195=) | |
1 | g.155295518_155295519del | CA2842069211 | PKLR | c.425_426del (p.Ala142GlyfsTer?) c.233_234del (p.Ala78GlyfsTer?) c.332_333del (p.Ala111GlyfsTer?) c.330_331del (n.330_331del) c.584_585del (p.Ala195GlyfsTer?) | |
1 | g.155295519G>A | CA342755704 | PKLR | c.425C>T (p.Ala142Val) c.233C>T (p.Ala78Val) c.332C>T (p.Ala111Val) c.330C>T (n.330C>T) c.584C>T (p.Ala195Val) | |
1 | g.155295519G>C | CA342755706 | PKLR | c.425C>G (p.Ala142Gly) c.233C>G (p.Ala78Gly) c.332C>G (p.Ala111Gly) c.330C>G (n.330C>G) c.584C>G (p.Ala195Gly) | |
1 | g.155295519G>T | CA342755707 | PKLR | c.425C>A (p.Ala142Glu) c.233C>A (p.Ala78Glu) c.332C>A (p.Ala111Glu) c.330C>A (n.330C>A) c.584C>A (p.Ala195Glu) | |
1 | g.155295520del | CA2573919411 | PKLR | c.424del (p.Ala142GlnfsTer?) c.232del (p.Ala78GlnfsTer?) c.331del (p.Ala111GlnfsTer?) c.329del (n.329del) c.583del (p.Ala195GlnfsTer?) | |
1 | g.155295520C>A | CA342755710 | PKLR | c.424G>T (p.Ala142Ser) c.232G>T (p.Ala78Ser) c.331G>T (p.Ala111Ser) c.329G>T (n.329G>T) c.583G>T (p.Ala195Ser) | |
1 | g.155295520C= | CA1200112658 | PKLR | c.424G= (p.Ala142=) c.232G= (p.Ala78=) c.331G= (p.Ala111=) c.329G= (n.329G=) c.583G= (p.Ala195=) | |
1 | g.155295520C>G | CA342755711 | PKLR | c.424G>C (p.Ala142Pro) c.232G>C (p.Ala78Pro) c.331G>C (p.Ala111Pro) c.329G>C (n.329G>C) c.583G>C (p.Ala195Pro) | dbSNP |
1 | g.155295520C>T | CA342755712 | PKLR | c.424G>A (p.Ala142Thr) c.232G>A (p.Ala78Thr) c.331G>A (p.Ala111Thr) c.329G>A (n.329G>A) c.583G>A (p.Ala195Thr) | gnomAD v4 |
1 | g.155295521A>C | CA342755715 | PKLR | c.423T>G (p.Phe141Leu) c.231T>G (p.Phe77Leu) c.330T>G (p.Phe110Leu) c.328T>G (n.328T>G) c.582T>G (p.Phe194Leu) | |
1 | g.155295521A>G | CA421245838 | PKLR | c.423T>C (p.Phe141=) c.231T>C (p.Phe77=) c.330T>C (p.Phe110=) c.328T>C (n.328T>C) c.582T>C (p.Phe194=) | ClinVar |
1 | g.155295521A>T | CA342755717 | PKLR | c.423T>A (p.Phe141Leu) c.231T>A (p.Phe77Leu) c.330T>A (p.Phe110Leu) c.328T>A (n.328T>A) c.582T>A (p.Phe194Leu) | |
1 | g.155295522A= | CA1200112659 | PKLR | c.422T= (p.Phe141=) c.230T= (p.Phe77=) c.329T= (p.Phe110=) c.327T= (n.327T=) c.581T= (p.Phe194=) | |
1 | g.155295522A>C | CA342755719 | PKLR | c.422T>G (p.Phe141Cys) c.230T>G (p.Phe77Cys) c.329T>G (p.Phe110Cys) c.327T>G (n.327T>G) c.581T>G (p.Phe194Cys) | |
1 | g.155295522A>G | CA342755721 | PKLR | c.422T>C (p.Phe141Ser) c.230T>C (p.Phe77Ser) c.329T>C (p.Phe110Ser) c.327T>C (n.327T>C) c.581T>C (p.Phe194Ser) | ClinVar dbSNP gnomAD v4 |
1 | g.155295522A>T | CA342755723 | PKLR | c.422T>A (p.Phe141Tyr) c.230T>A (p.Phe77Tyr) c.329T>A (p.Phe110Tyr) c.327T>A (n.327T>A) c.581T>A (p.Phe194Tyr) | |
1 | g.155295523A= | CA1200112660 | PKLR | c.421T= (p.Phe141=) c.229T= (p.Phe77=) c.328T= (p.Phe110=) c.326T= (n.326T=) c.580T= (p.Phe194=) | |
1 | g.155295523A>C | CA342755730 | PKLR | c.421T>G (p.Phe141Val) c.229T>G (p.Phe77Val) c.328T>G (p.Phe110Val) c.326T>G (n.326T>G) c.580T>G (p.Phe194Val) | |
1 | g.155295523A>G | CA342755726 | PKLR | c.421T>C (p.Phe141Leu) c.229T>C (p.Phe77Leu) c.328T>C (p.Phe110Leu) c.326T>C (n.326T>C) c.580T>C (p.Phe194Leu) | dbSNP |
1 | g.155295523A>T | CA342755728 | PKLR | c.421T>A (p.Phe141Ile) c.229T>A (p.Phe77Ile) c.328T>A (p.Phe110Ile) c.326T>A (n.326T>A) c.580T>A (p.Phe194Ile) | |
1 | g.155295524G>A | CA421245839 | PKLR | c.420C>T (p.Ser140=) c.228C>T (p.Ser76=) c.327C>T (p.Ser109=) c.325C>T (n.325C>T) c.579C>T (p.Ser193=) | |
1 | g.155295524G>C | CA342755732 | PKLR | c.420C>G (p.Ser140Arg) c.228C>G (p.Ser76Arg) c.327C>G (p.Ser109Arg) c.325C>G (n.325C>G) c.579C>G (p.Ser193Arg) | |
1 | g.155295524G= | CA1200112661 | PKLR | c.420C= (p.Ser140=) c.228C= (p.Ser76=) c.327C= (p.Ser109=) c.325C= (n.325C=) c.579C= (p.Ser193=) | |
1 | g.155295524G>T | CA1144337 | PKLR | c.420C>A (p.Ser140Arg) c.228C>A (p.Ser76Arg) c.327C>A (p.Ser109Arg) c.325C>A (n.325C>A) c.579C>A (p.Ser193Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295525C>A | CA342755736 | PKLR | c.419G>T (p.Ser140Ile) c.227G>T (p.Ser76Ile) c.326G>T (p.Ser109Ile) c.324G>T (n.324G>T) c.578G>T (p.Ser193Ile) | |
1 | g.155295525C>G | CA342755738 | PKLR | c.419G>C (p.Ser140Thr) c.227G>C (p.Ser76Thr) c.326G>C (p.Ser109Thr) c.324G>C (n.324G>C) c.578G>C (p.Ser193Thr) | |
1 | g.155295525C>T | CA342755740 | PKLR | c.419G>A (p.Ser140Asn) c.227G>A (p.Ser76Asn) c.326G>A (p.Ser109Asn) c.324G>A (n.324G>A) c.578G>A (p.Ser193Asn) | |
1 | g.155295526T>A | CA342755742 | PKLR | c.418A>T (p.Ser140Cys) c.226A>T (p.Ser76Cys) c.325A>T (p.Ser109Cys) c.323A>T (n.323A>T) c.577A>T (p.Ser193Cys) | |
1 | g.155295526T>C | CA342755744 | PKLR | c.418A>G (p.Ser140Gly) c.226A>G (p.Ser76Gly) c.325A>G (p.Ser109Gly) c.323A>G (n.323A>G) c.577A>G (p.Ser193Gly) | |
1 | g.155295526T>G | CA342755746 | PKLR | c.418A>C (p.Ser140Arg) c.226A>C (p.Ser76Arg) c.325A>C (p.Ser109Arg) c.323A>C (n.323A>C) c.577A>C (p.Ser193Arg) | |
1 | g.155295527C>A | CA342755748 | PKLR | c.417G>T (p.Glu139Asp) c.225G>T (p.Glu75Asp) c.324G>T (p.Glu108Asp) c.322G>T (n.322G>T) c.576G>T (p.Glu192Asp) | |
1 | g.155295527C= | CA1200112662 | PKLR | c.417G= (p.Glu139=) c.225G= (p.Glu75=) c.324G= (p.Glu108=) c.322G= (n.322G=) c.576G= (p.Glu192=) | |
1 | g.155295527C>G | CA342755751 | PKLR | c.417G>C (p.Glu139Asp) c.225G>C (p.Glu75Asp) c.324G>C (p.Glu108Asp) c.322G>C (n.322G>C) c.576G>C (p.Glu192Asp) | |
1 | g.155295527C>T | CA421245842 | PKLR | c.417G>A (p.Glu139=) c.225G>A (p.Glu75=) c.324G>A (p.Glu108=) c.322G>A (n.322G>A) c.576G>A (p.Glu192=) | dbSNP |
1 | g.155295528T>A | CA30904586 | PKLR | c.416A>T (p.Glu139Val) c.224A>T (p.Glu75Val) c.323A>T (p.Glu108Val) c.321A>T (n.321A>T) c.575A>T (p.Glu192Val) | dbSNP |
1 | g.155295528T>C | CA342755756 | PKLR | c.416A>G (p.Glu139Gly) c.224A>G (p.Glu75Gly) c.323A>G (p.Glu108Gly) c.321A>G (n.321A>G) c.575A>G (p.Glu192Gly) | |
1 | g.155295528T>G | CA342755754 | PKLR | c.416A>C (p.Glu139Ala) c.224A>C (p.Glu75Ala) c.323A>C (p.Glu108Ala) c.321A>C (n.321A>C) c.575A>C (p.Glu192Ala) | |
1 | g.155295528T= | CA1200112663 | PKLR | c.416A= (p.Glu139=) c.224A= (p.Glu75=) c.323A= (p.Glu108=) c.321A= (n.321A=) c.575A= (p.Glu192=) | |
1 | g.155295529C>A | CA342755760 | PKLR | c.415G>T (p.Glu139Ter) c.223G>T (p.Glu75Ter) c.322G>T (p.Glu108Ter) c.320G>T (n.320G>T) c.574G>T (p.Glu192Ter) | |
1 | g.155295529C= | CA1148893041 | PKLR | c.415G= (p.Glu139=) c.223G= (p.Glu75=) c.322G= (p.Glu108=) c.320G= (n.320G=) c.574G= (p.Glu192=) | |
1 | g.155295529C>G | CA342755762 | PKLR | c.415G>C (p.Glu139Gln) c.223G>C (p.Glu75Gln) c.322G>C (p.Glu108Gln) c.320G>C (n.320G>C) c.574G>C (p.Glu192Gln) | |
1 | g.155295529C>T | CA1144338 | PKLR | c.415G>A (p.Glu139Lys) c.223G>A (p.Glu75Lys) c.322G>A (p.Glu108Lys) c.320G>A (n.320G>A) c.574G>A (p.Glu192Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295530C>A | CA421245847 | PKLR | c.414G>T (p.Val138=) c.222G>T (p.Val74=) c.321G>T (p.Val107=) c.319G>T (n.319G>T) c.573G>T (p.Val191=) | |
1 | g.155295530C>G | CA421245848 | PKLR | c.414G>C (p.Val138=) c.222G>C (p.Val74=) c.321G>C (p.Val107=) c.319G>C (n.319G>C) c.573G>C (p.Val191=) | |
1 | g.155295530C>T | CA421245849 | PKLR | c.414G>A (p.Val138=) c.222G>A (p.Val74=) c.321G>A (p.Val107=) c.319G>A (n.319G>A) c.573G>A (p.Val191=) | |
1 | g.155295531A>C | CA342755766 | PKLR | c.413T>G (p.Val138Gly) c.221T>G (p.Val74Gly) c.320T>G (p.Val107Gly) c.318T>G (n.318T>G) c.572T>G (p.Val191Gly) | |
1 | g.155295531A>G | CA342755768 | PKLR | c.413T>C (p.Val138Ala) c.221T>C (p.Val74Ala) c.320T>C (p.Val107Ala) c.318T>C (n.318T>C) c.572T>C (p.Val191Ala) | |
1 | g.155295531A>T | CA342755770 | PKLR | c.413T>A (p.Val138Glu) c.221T>A (p.Val74Glu) c.320T>A (p.Val107Glu) c.318T>A (n.318T>A) c.572T>A (p.Val191Glu) | |
1 | g.155295532C>A | CA342755773 | PKLR | c.412G>T (p.Val138Leu) c.220G>T (p.Val74Leu) c.319G>T (p.Val107Leu) c.317G>T (n.317G>T) c.571G>T (p.Val191Leu) | dbSNP gnomAD v4 |
1 | g.155295532C= | CA1200112664 | PKLR | c.412G= (p.Val138=) c.220G= (p.Val74=) c.319G= (p.Val107=) c.317G= (n.317G=) c.571G= (p.Val191=) | |
1 | g.155295532C>G | CA342755774 | PKLR | c.412G>C (p.Val138Leu) c.220G>C (p.Val74Leu) c.319G>C (p.Val107Leu) c.317G>C (n.317G>C) c.571G>C (p.Val191Leu) | |
1 | g.155295532C>T | CA342755776 | PKLR | c.412G>A (p.Val138Met) c.220G>A (p.Val74Met) c.319G>A (p.Val107Met) c.317G>A (n.317G>A) c.571G>A (p.Val191Met) | |
1 | g.155295533C>A | CA421245852 | PKLR | c.411G>T (p.Ala137=) c.219G>T (p.Ala73=) c.318G>T (p.Ala106=) c.316G>T (n.316G>T) c.570G>T (p.Ala190=) | gnomAD v4 |
1 | g.155295533C= | CA1200112665 | PKLR | c.411G= (p.Ala137=) c.219G= (p.Ala73=) c.318G= (p.Ala106=) c.316G= (n.316G=) c.570G= (p.Ala190=) | |
1 | g.155295533C>G | CA421245854 | PKLR | c.411G>C (p.Ala137=) c.219G>C (p.Ala73=) c.318G>C (p.Ala106=) c.316G>C (n.316G>C) c.570G>C (p.Ala190=) | |
1 | g.155295533C>T | CA421245856 | PKLR | c.411G>A (p.Ala137=) c.219G>A (p.Ala73=) c.318G>A (p.Ala106=) c.316G>A (n.316G>A) c.570G>A (p.Ala190=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295534G>A | CA342755779 | PKLR | c.410C>T (p.Ala137Val) c.218C>T (p.Ala73Val) c.317C>T (p.Ala106Val) c.315C>T (n.315C>T) c.569C>T (p.Ala190Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295534G>C | CA342755780 | PKLR | c.410C>G (p.Ala137Gly) c.218C>G (p.Ala73Gly) c.317C>G (p.Ala106Gly) c.315C>G (n.315C>G) c.569C>G (p.Ala190Gly) | |
1 | g.155295534G= | CA1200112666 | PKLR | c.410C= (p.Ala137=) c.218C= (p.Ala73=) c.317C= (p.Ala106=) c.315C= (n.315C=) c.569C= (p.Ala190=) | |
1 | g.155295534G>T | CA342755782 | PKLR | c.410C>A (p.Ala137Glu) c.218C>A (p.Ala73Glu) c.317C>A (p.Ala106Glu) c.315C>A (n.315C>A) c.569C>A (p.Ala190Glu) | |
1 | g.155295535C>A | CA342755789 | PKLR | c.409G>T (p.Ala137Ser) c.217G>T (p.Ala73Ser) c.316G>T (p.Ala106Ser) c.314G>T (n.314G>T) c.568G>T (p.Ala190Ser) | |
1 | g.155295535C= | CA1200112667 | PKLR | c.409G= (p.Ala137=) c.217G= (p.Ala73=) c.316G= (p.Ala106=) c.314G= (n.314G=) c.568G= (p.Ala190=) | |
1 | g.155295535C>G | CA342755785 | PKLR | c.409G>C (p.Ala137Pro) c.217G>C (p.Ala73Pro) c.316G>C (p.Ala106Pro) c.314G>C (n.314G>C) c.568G>C (p.Ala190Pro) | |
1 | g.155295535C>T | CA342755787 | PKLR | c.409G>A (p.Ala137Thr) c.217G>A (p.Ala73Thr) c.316G>A (p.Ala106Thr) c.314G>A (n.314G>A) c.568G>A (p.Ala190Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.155295536dup | CA2842069212 | PKLR | c.409dup (p.Ala137GlyfsTer?) c.217dup (p.Ala73GlyfsTer?) c.316dup (p.Ala106GlyfsTer?) c.314dup (n.314dup) c.568dup (p.Ala190GlyfsTer?) | |
1 | g.155295536C>A | CA342755792 | PKLR | c.408G>T (p.Glu136Asp) c.216G>T (p.Glu72Asp) c.315G>T (p.Glu105Asp) c.313G>T (n.313G>T) c.567G>T (p.Glu189Asp) | |
1 | g.155295536C>G | CA342755793 | PKLR | c.408G>C (p.Glu136Asp) c.216G>C (p.Glu72Asp) c.315G>C (p.Glu105Asp) c.313G>C (n.313G>C) c.567G>C (p.Glu189Asp) | |
1 | g.155295536C>T | CA421245859 | PKLR | c.408G>A (p.Glu136=) c.216G>A (p.Glu72=) c.315G>A (p.Glu105=) c.313G>A (n.313G>A) c.567G>A (p.Glu189=) | gnomAD v4 |
1 | g.155295537T>A | CA342755796 | PKLR | c.407A>T (p.Glu136Val) c.215A>T (p.Glu72Val) c.314A>T (p.Glu105Val) c.312A>T (n.312A>T) c.566A>T (p.Glu189Val) | |
1 | g.155295537T>C | CA342755799 | PKLR | c.407A>G (p.Glu136Gly) c.215A>G (p.Glu72Gly) c.314A>G (p.Glu105Gly) c.312A>G (n.312A>G) c.566A>G (p.Glu189Gly) | |
1 | g.155295537T>G | CA342755800 | PKLR | c.407A>C (p.Glu136Ala) c.215A>C (p.Glu72Ala) c.314A>C (p.Glu105Ala) c.312A>C (n.312A>C) c.566A>C (p.Glu189Ala) | |
1 | g.155295538C>A | CA342755803 | PKLR | c.406G>T (p.Glu136Ter) c.214G>T (p.Glu72Ter) c.313G>T (p.Glu105Ter) c.311G>T (n.311G>T) c.565G>T (p.Glu189Ter) | |
1 | g.155295538C>G | CA342755805 | PKLR | c.406G>C (p.Glu136Gln) c.214G>C (p.Glu72Gln) c.313G>C (p.Glu105Gln) c.311G>C (n.311G>C) c.565G>C (p.Glu189Gln) | |
1 | g.155295538C>T | CA342755807 | PKLR | c.406G>A (p.Glu136Lys) c.214G>A (p.Glu72Lys) c.313G>A (p.Glu105Lys) c.311G>A (n.311G>A) c.565G>A (p.Glu189Lys) | |
1 | g.155295540del | CA2648264907 | PKLR | c.406del (p.Glu136ArgfsTer?) c.214del (p.Glu72ArgfsTer?) c.313del (p.Glu105ArgfsTer?) c.311del (n.311del) c.565del (p.Glu189ArgfsTer?) | gnomAD v4 |
1 | g.155295539C>A | CA421245864 | PKLR | c.405G>T (p.Arg135=) c.213G>T (p.Arg71=) c.312G>T (p.Arg104=) c.310G>T (n.310G>T) c.564G>T (p.Arg188=) | |
1 | g.155295539C>G | CA421245865 | PKLR | c.405G>C (p.Arg135=) c.213G>C (p.Arg71=) c.312G>C (p.Arg104=) c.310G>C (n.310G>C) c.564G>C (p.Arg188=) | |
1 | g.155295539C>T | CA421245866 | PKLR | c.405G>A (p.Arg135=) c.213G>A (p.Arg71=) c.312G>A (p.Arg104=) c.310G>A (n.310G>A) c.564G>A (p.Arg188=) | |
1 | g.155295540C>A | CA342755810 | PKLR | c.404G>T (p.Arg135Leu) c.212G>T (p.Arg71Leu) c.311G>T (p.Arg104Leu) c.309G>T (n.309G>T) c.563G>T (p.Arg188Leu) | |
1 | g.155295540C>G | CA342755811 | PKLR | c.404G>C (p.Arg135Pro) c.212G>C (p.Arg71Pro) c.311G>C (p.Arg104Pro) c.309G>C (n.309G>C) c.563G>C (p.Arg188Pro) | |
1 | g.155295540C>T | CA342755813 | PKLR | c.404G>A (p.Arg135Gln) c.212G>A (p.Arg71Gln) c.311G>A (p.Arg104Gln) c.309G>A (n.309G>A) c.563G>A (p.Arg188Gln) | gnomAD v4 |
1 | g.155295541G>A | CA342755819 | PKLR | c.403C>T (p.Arg135Trp) c.211C>T (p.Arg71Trp) c.310C>T (p.Arg104Trp) c.308C>T (n.308C>T) c.562C>T (p.Arg188Trp) | ClinVar dbSNP gnomAD v4 |
1 | g.155295541G>C | CA342755817 | PKLR | c.403C>G (p.Arg135Gly) c.211C>G (p.Arg71Gly) c.310C>G (p.Arg104Gly) c.308C>G (n.308C>G) c.562C>G (p.Arg188Gly) | |
1 | g.155295541G= | CA1200112668 | PKLR | c.403C= (p.Arg135=) c.211C= (p.Arg71=) c.310C= (p.Arg104=) c.308C= (n.308C=) c.562C= (p.Arg188=) | |
1 | g.155295541G>T | CA1144339 | PKLR | c.403C>A (p.Arg135=) c.211C>A (p.Arg71=) c.310C>A (p.Arg104=) c.308C>A (n.308C>A) c.562C>A (p.Arg188=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295542G>A | CA421245869 | PKLR | c.402C>T (p.Val134=) c.210C>T (p.Val70=) c.309C>T (p.Val103=) c.307C>T (n.307C>T) c.561C>T (p.Val187=) | gnomAD v4 |
1 | g.155295542G>C | CA421245871 | PKLR | c.402C>G (p.Val134=) c.210C>G (p.Val70=) c.309C>G (p.Val103=) c.307C>G (n.307C>G) c.561C>G (p.Val187=) | gnomAD v4 |
1 | g.155295542G>T | CA421245873 | PKLR | c.402C>A (p.Val134=) c.210C>A (p.Val70=) c.309C>A (p.Val103=) c.307C>A (n.307C>A) c.561C>A (p.Val187=) | |
1 | g.155295543A= | CA1147801176 | PKLR | c.401T= (p.Val134=) c.209T= (p.Val70=) c.308T= (p.Val103=) c.306T= (n.306T=) c.560T= (p.Val187=) | |
1 | g.155295543A>C | CA342755822 | PKLR | c.401T>G (p.Val134Gly) c.209T>G (p.Val70Gly) c.308T>G (p.Val103Gly) c.306T>G (n.306T>G) c.560T>G (p.Val187Gly) | |
1 | g.155295543A>G | CA342755825 | PKLR | c.401T>C (p.Val134Ala) c.209T>C (p.Val70Ala) c.308T>C (p.Val103Ala) c.306T>C (n.306T>C) c.560T>C (p.Val187Ala) | |
1 | g.155295543A>T | CA1144340 | PKLR | c.401T>A (p.Val134Asp) c.209T>A (p.Val70Asp) c.308T>A (p.Val103Asp) c.306T>A (n.306T>A) c.560T>A (p.Val187Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295544C>A | CA342755828 | PKLR | c.400G>T (p.Val134Phe) c.208G>T (p.Val70Phe) c.307G>T (p.Val103Phe) c.305G>T (n.305G>T) c.559G>T (p.Val187Phe) | |
1 | g.155295544C>G | CA342755830 | PKLR | c.400G>C (p.Val134Leu) c.208G>C (p.Val70Leu) c.307G>C (p.Val103Leu) c.305G>C (n.305G>C) c.559G>C (p.Val187Leu) | gnomAD v4 |
1 | g.155295544C>T | CA342755832 | PKLR | c.400G>A (p.Val134Ile) c.208G>A (p.Val70Ile) c.307G>A (p.Val103Ile) c.305G>A (n.305G>A) c.559G>A (p.Val187Ile) | gnomAD v4 |
1 | g.155295545G>A | CA421245875 | PKLR | c.399C>T (p.Asn133=) c.207C>T (p.Asn69=) c.306C>T (p.Asn102=) c.304C>T (n.304C>T) c.558C>T (p.Asn186=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.155295545G>C | CA342755833 | PKLR | c.399C>G (p.Asn133Lys) c.207C>G (p.Asn69Lys) c.306C>G (p.Asn102Lys) c.304C>G (n.304C>G) c.558C>G (p.Asn186Lys) | |
1 | g.155295545G= | CA1149145697 | PKLR | c.399C= (p.Asn133=) c.207C= (p.Asn69=) c.306C= (p.Asn102=) c.304C= (n.304C=) c.558C= (p.Asn186=) | |
1 | g.155295545G>T | CA1144341 | PKLR | c.399C>A (p.Asn133Lys) c.207C>A (p.Asn69Lys) c.306C>A (p.Asn102Lys) c.304C>A (n.304C>A) c.558C>A (p.Asn186Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295546T>A | CA1144342 | PKLR | c.398A>T (p.Asn133Ile) c.206A>T (p.Asn69Ile) c.305A>T (p.Asn102Ile) c.303A>T (n.303A>T) c.557A>T (p.Asn186Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.155295546T>C | CA342755834 | PKLR | c.398A>G (p.Asn133Ser) c.206A>G (p.Asn69Ser) c.305A>G (p.Asn102Ser) c.303A>G (n.303A>G) c.557A>G (p.Asn186Ser) | gnomAD v4 |
1 | g.155295546T>G | CA342755835 | PKLR | c.398A>C (p.Asn133Thr) c.206A>C (p.Asn69Thr) c.305A>C (p.Asn102Thr) c.303A>C (n.303A>C) c.557A>C (p.Asn186Thr) | COSMIC |
1 | g.155295546T= | CA1200112669 | PKLR | c.398A= (p.Asn133=) c.206A= (p.Asn69=) c.305A= (p.Asn102=) c.303A= (n.303A=) c.557A= (p.Asn186=) | |
1 | g.155295547T>A | CA342755836 | PKLR | c.397A>T (p.Asn133Tyr) c.205A>T (p.Asn69Tyr) c.304A>T (p.Asn102Tyr) c.302A>T (n.302A>T) c.556A>T (p.Asn186Tyr) | |
1 | g.155295547T>C | CA342755837 | PKLR | c.397A>G (p.Asn133Asp) c.205A>G (p.Asn69Asp) c.304A>G (p.Asn102Asp) c.302A>G (n.302A>G) c.556A>G (p.Asn186Asp) | gnomAD v4 |
1 | g.155295547T>G | CA342755838 | PKLR | c.397A>C (p.Asn133His) c.205A>C (p.Asn69His) c.304A>C (p.Asn102His) c.302A>C (n.302A>C) c.556A>C (p.Asn186His) | |
1 | g.155295548G>A | CA421245879 | PKLR | c.396C>T (p.Ala132=) c.204C>T (p.Ala68=) c.303C>T (p.Ala101=) c.301C>T (n.301C>T) c.555C>T (p.Ala185=) | |
1 | g.155295548G>C | CA421245880 | PKLR | c.396C>G (p.Ala132=) c.204C>G (p.Ala68=) c.303C>G (p.Ala101=) c.301C>G (n.301C>G) c.555C>G (p.Ala185=) | |
1 | g.155295548G>T | CA421245881 | PKLR | c.396C>A (p.Ala132=) c.204C>A (p.Ala68=) c.303C>A (p.Ala101=) c.301C>A (n.301C>A) c.555C>A (p.Ala185=) | |
1 | g.155295549G>A | CA342755843 | PKLR | c.395C>T (p.Ala132Val) c.203C>T (p.Ala68Val) c.302C>T (p.Ala101Val) c.300C>T (n.300C>T) c.554C>T (p.Ala185Val) | |
1 | g.155295549G>C | CA342755840 | PKLR | c.395C>G (p.Ala132Gly) c.203C>G (p.Ala68Gly) c.302C>G (p.Ala101Gly) c.300C>G (n.300C>G) c.554C>G (p.Ala185Gly) | |
1 | g.155295549G>T | CA342755839 | PKLR | c.395C>A (p.Ala132Asp) c.203C>A (p.Ala68Asp) c.302C>A (p.Ala101Asp) c.300C>A (n.300C>A) c.554C>A (p.Ala185Asp) | |
1 | g.155295550C>A | CA342755845 | PKLR | c.394G>T (p.Ala132Ser) c.202G>T (p.Ala68Ser) c.301G>T (p.Ala101Ser) c.299G>T (n.299G>T) c.553G>T (p.Ala185Ser) | gnomAD v4 |
1 | g.155295550C= | CA1200112671 | PKLR | c.394G= (p.Ala132=) c.202G= (p.Ala68=) c.301G= (p.Ala101=) c.299G= (n.299G=) c.553G= (p.Ala185=) | |
1 | g.155295550C>G | CA342755847 | PKLR | c.394G>C (p.Ala132Pro) c.202G>C (p.Ala68Pro) c.301G>C (p.Ala101Pro) c.299G>C (n.299G>C) c.553G>C (p.Ala185Pro) | |
1 | g.155295550C>T | CA342755849 | PKLR | c.394G>A (p.Ala132Thr) c.202G>A (p.Ala68Thr) c.301G>A (p.Ala101Thr) c.299G>A (n.299G>A) c.553G>A (p.Ala185Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.155295550_155295553delinsCGAT | CA1200112670 | PKLR | c.391_394delinsATCG (p.Ile131=) c.199_202delinsATCG (p.Ile67=) c.298_301delinsATCG (p.Ile100=) c.296_299delinsATCG (n.296_299delinsATCG) c.550_553delinsATCG (p.Ile184=) | |
1 | g.155295551G>A | CA421245884 | PKLR | c.393C>T (p.Ile131=) c.201C>T (p.Ile67=) c.300C>T (p.Ile100=) c.298C>T (n.298C>T) c.552C>T (p.Ile184=) | gnomAD v4 |
1 | g.155295551G>C | CA342755852 | PKLR | c.393C>G (p.Ile131Met) c.201C>G (p.Ile67Met) c.300C>G (p.Ile100Met) c.298C>G (n.298C>G) c.552C>G (p.Ile184Met) | |
1 | g.155295551G>T | CA421245886 | PKLR | c.393C>A (p.Ile131=) c.201C>A (p.Ile67=) c.300C>A (p.Ile100=) c.298C>A (n.298C>A) c.552C>A (p.Ile184=) | |
1 | g.155295552_155295554del | CA10608268 | PKLR | c.391_393del (p.Ile131del) c.199_201del (p.Ile67del) c.298_300del (p.Ile100del) c.296_298del (n.296_298del) c.550_552del (p.Ile184del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295552A>C | CA342755858 | PKLR | c.392T>G (p.Ile131Ser) c.200T>G (p.Ile67Ser) c.299T>G (p.Ile100Ser) c.297T>G (n.297T>G) c.551T>G (p.Ile184Ser) | |
1 | g.155295552A>G | CA342755859 | PKLR | c.392T>C (p.Ile131Thr) c.200T>C (p.Ile67Thr) c.299T>C (p.Ile100Thr) c.297T>C (n.297T>C) c.551T>C (p.Ile184Thr) | |
1 | g.155295552A>T | CA342755861 | PKLR | c.392T>A (p.Ile131Asn) c.200T>A (p.Ile67Asn) c.299T>A (p.Ile100Asn) c.297T>A (n.297T>A) c.551T>A (p.Ile184Asn) | |
1 | g.155295553T>A | CA342755864 | PKLR | c.391A>T (p.Ile131Phe) c.199A>T (p.Ile67Phe) c.298A>T (p.Ile100Phe) c.296A>T (n.296A>T) c.550A>T (p.Ile184Phe) | |
1 | g.155295553T>C | CA342755866 | PKLR | c.391A>G (p.Ile131Val) c.199A>G (p.Ile67Val) c.298A>G (p.Ile100Val) c.296A>G (n.296A>G) c.550A>G (p.Ile184Val) | gnomAD v4 |
1 | g.155295553T>G | CA342755868 | PKLR | c.391A>C (p.Ile131Leu) c.199A>C (p.Ile67Leu) c.298A>C (p.Ile100Leu) c.296A>C (n.296A>C) c.550A>C (p.Ile184Leu) | |
1 | g.155295554G>A | CA421245887 | PKLR | c.390C>T (p.Ser130=) c.198C>T (p.Ser66=) c.297C>T (p.Ser99=) c.295C>T (n.295C>T) c.549C>T (p.Ser183=) | |
1 | g.155295554G>C | CA421245888 | PKLR | c.390C>G (p.Ser130=) c.198C>G (p.Ser66=) c.297C>G (p.Ser99=) c.295C>G (n.295C>G) c.549C>G (p.Ser183=) | |
1 | g.155295554G>T | CA421245889 | PKLR | c.390C>A (p.Ser130=) c.198C>A (p.Ser66=) c.297C>A (p.Ser99=) c.295C>A (n.295C>A) c.549C>A (p.Ser183=) | |
1 | g.155295555G>A | CA342755874 | PKLR | c.389C>T (p.Ser130Phe) c.197C>T (p.Ser66Phe) c.296C>T (p.Ser99Phe) c.294C>T (n.294C>T) c.548C>T (p.Ser183Phe) | |
1 | g.155295555G>C | CA342755873 | PKLR | c.389C>G (p.Ser130Cys) c.197C>G (p.Ser66Cys) c.296C>G (p.Ser99Cys) c.294C>G (n.294C>G) c.548C>G (p.Ser183Cys) | |
1 | g.155295555G= | CA1141580351 | PKLR | c.389C= (p.Ser130=) c.197C= (p.Ser66=) c.296C= (p.Ser99=) c.294C= (n.294C=) c.548C= (p.Ser183=) | |
1 | g.155295555G>T | CA215081 | PKLR | c.389C>A (p.Ser130Tyr) c.197C>A (p.Ser66Tyr) c.296C>A (p.Ser99Tyr) c.294C>A (n.294C>A) c.548C>A (p.Ser183Tyr) | ClinVar dbSNP |
1 | g.155295556A>C | CA342755877 | PKLR | c.388T>G (p.Ser130Ala) c.196T>G (p.Ser66Ala) c.295T>G (p.Ser99Ala) c.293T>G (n.293T>G) c.547T>G (p.Ser183Ala) | |
1 | g.155295556A>G | CA342755879 | PKLR | c.388T>C (p.Ser130Pro) c.196T>C (p.Ser66Pro) c.295T>C (p.Ser99Pro) c.293T>C (n.293T>C) c.547T>C (p.Ser183Pro) | |
1 | g.155295556A>T | CA342755881 | PKLR | c.388T>A (p.Ser130Thr) c.196T>A (p.Ser66Thr) c.295T>A (p.Ser99Thr) c.293T>A (n.293T>A) c.547T>A (p.Ser183Thr) | |
1 | g.155295557C>A | CA342755883 | PKLR | c.387G>T (p.Glu129Asp) c.195G>T (p.Glu65Asp) c.294G>T (p.Glu98Asp) c.292G>T (n.292G>T) c.546G>T (p.Glu182Asp) | |
1 | g.155295557C>G | CA342755885 | PKLR | c.387G>C (p.Glu129Asp) c.195G>C (p.Glu65Asp) c.294G>C (p.Glu98Asp) c.292G>C (n.292G>C) c.546G>C (p.Glu182Asp) | |
1 | g.155295557C>T | CA421245890 | PKLR | c.387G>A (p.Glu129=) c.195G>A (p.Glu65=) c.294G>A (p.Glu98=) c.292G>A (n.292G>A) c.546G>A (p.Glu182=) | gnomAD v4 |
1 | g.155295558T>A | CA342755888 | PKLR | c.386A>T (p.Glu129Val) c.194A>T (p.Glu65Val) c.293A>T (p.Glu98Val) c.291A>T (n.291A>T) c.545A>T (p.Glu182Val) | |
1 | g.155295558T>C | CA342755889 | PKLR | c.386A>G (p.Glu129Gly) c.194A>G (p.Glu65Gly) c.293A>G (p.Glu98Gly) c.291A>G (n.291A>G) c.545A>G (p.Glu182Gly) | |
1 | g.155295558T>G | CA342755891 | PKLR | c.386A>C (p.Glu129Ala) c.194A>C (p.Glu65Ala) c.293A>C (p.Glu98Ala) c.291A>C (n.291A>C) c.545A>C (p.Glu182Ala) | |
1 | g.155295559C>A | CA342755895 | PKLR | c.385G>T (p.Glu129Ter) c.193G>T (p.Glu65Ter) c.292G>T (p.Glu98Ter) c.290G>T (n.290G>T) c.544G>T (p.Glu182Ter) | |
1 | g.155295559C= | CA1200112672 | PKLR | c.385G= (p.Glu129=) c.193G= (p.Glu65=) c.292G= (p.Glu98=) c.290G= (n.290G=) c.544G= (p.Glu182=) | |
1 | g.155295559C>G | CA342755897 | PKLR | c.385G>C (p.Glu129Gln) c.193G>C (p.Glu65Gln) c.292G>C (p.Glu98Gln) c.290G>C (n.290G>C) c.544G>C (p.Glu182Gln) | |
1 | g.155295559C>T | CA1144343 | PKLR | c.385G>A (p.Glu129Lys) c.193G>A (p.Glu65Lys) c.292G>A (p.Glu98Lys) c.290G>A (n.290G>A) c.544G>A (p.Glu182Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.155295560A= | CA1200112673 | PKLR | c.384T= (p.Ala128=) c.192T= (p.Ala64=) c.291T= (p.Ala97=) c.289T= (n.289T=) c.543T= (p.Ala181=) | |
1 | g.155295560A>C | CA421245891 | PKLR | c.384T>G (p.Ala128=) c.192T>G (p.Ala64=) c.291T>G (p.Ala97=) c.289T>G (n.289T>G) c.543T>G (p.Ala181=) | dbSNP gnomAD v4 |
1 | g.155295560A>G | CA421245892 | PKLR | c.384T>C (p.Ala128=) c.192T>C (p.Ala64=) c.291T>C (p.Ala97=) c.289T>C (n.289T>C) c.543T>C (p.Ala181=) | |
1 | g.155295560A>T | CA421245893 | PKLR | c.384T>A (p.Ala128=) c.192T>A (p.Ala64=) c.291T>A (p.Ala97=) c.289T>A (n.289T>A) c.543T>A (p.Ala181=) | |
1 | g.155295561G>A | CA342755905 | PKLR | c.383C>T (p.Ala128Val) c.191C>T (p.Ala64Val) c.290C>T (p.Ala97Val) c.288C>T (n.288C>T) c.542C>T (p.Ala181Val) | |
1 | g.155295561G>C | CA342755903 | PKLR | c.383C>G (p.Ala128Gly) c.191C>G (p.Ala64Gly) c.290C>G (p.Ala97Gly) c.288C>G (n.288C>G) c.542C>G (p.Ala181Gly) | |
1 | g.155295561G>T | CA342755901 | PKLR | c.383C>A (p.Ala128Asp) c.191C>A (p.Ala64Asp) c.290C>A (p.Ala97Asp) c.288C>A (n.288C>A) c.542C>A (p.Ala181Asp) | |
1 | g.155295562C>A | CA342755908 | PKLR | c.382G>T (p.Ala128Ser) c.190G>T (p.Ala64Ser) c.289G>T (p.Ala97Ser) c.287G>T (n.287G>T) c.541G>T (p.Ala181Ser) | gnomAD v4 |
1 | g.155295562C>G | CA342755910 | PKLR | c.382G>C (p.Ala128Pro) c.190G>C (p.Ala64Pro) c.289G>C (p.Ala97Pro) c.287G>C (n.287G>C) c.541G>C (p.Ala181Pro) | gnomAD v4 |
1 | g.155295562C>T | CA342755912 | PKLR | c.382G>A (p.Ala128Thr) c.190G>A (p.Ala64Thr) c.289G>A (p.Ala97Thr) c.287G>A (n.287G>A) c.541G>A (p.Ala181Thr) | |
1 | g.155295563A>C | CA342755914 | PKLR | c.381T>G (p.His127Gln) c.189T>G (p.His63Gln) c.288T>G (p.His96Gln) c.286T>G (n.286T>G) c.540T>G (p.His180Gln) | |
1 | g.155295563A>G | CA421245896 | PKLR | c.381T>C (p.His127=) c.189T>C (p.His63=) c.288T>C (p.His96=) c.286T>C (n.286T>C) c.540T>C (p.His180=) | |
1 | g.155295563A>T | CA342755916 | PKLR | c.381T>A (p.His127Gln) c.189T>A (p.His63Gln) c.288T>A (p.His96Gln) c.286T>A (n.286T>A) c.540T>A (p.His180Gln) |