Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.90404382G>A | CA390690106 | CALM1 | c.289G>A (p.Gly97Ser) c.181G>A (p.Gly61Ser) c.292G>A (p.Gly98Ser) c.178-17G>A (n.178-17G>A) c.182G>A (p.Trp61Ter) n.2419G>A n.341G>A n.215G>A c.166-75G>A (n.166-75G>A) | |
14 | g.90404382G>C | CA390690107 | CALM1 | c.289G>C (p.Gly97Arg) c.181G>C (p.Gly61Arg) c.292G>C (p.Gly98Arg) c.178-17G>C (n.178-17G>C) c.182G>C (p.Trp61Ser) n.2419G>C n.341G>C n.215G>C c.166-75G>C (n.166-75G>C) | |
14 | g.90404382G>T | CA390690108 | CALM1 | c.289G>T (p.Gly97Cys) c.181G>T (p.Gly61Cys) c.292G>T (p.Gly98Cys) c.178-17G>T (n.178-17G>T) c.182G>T (p.Trp61Leu) n.2419G>T n.341G>T n.215G>T c.166-75G>T (n.166-75G>T) | |
14 | g.90404382_90404383delinsAA | CA2579773065 | CALM1 | c.289_290delinsAA (p.Gly97Asn) c.181_182delinsAA (p.Gly61Asn) c.292_293delinsAA (p.Gly98Asn) c.178-17_178-16delinsAA (n.178-17_178-16delinsAA) c.182_183delinsAA (p.Trp61Ter) n.2419_2420delinsAA n.341_342delinsAA n.215_216delinsAA c.166-75_166-74delinsAA (n.166-75_166-74delinsAA) | |
14 | g.90404382_90404383delinsAT | CA2579769804 | CALM1 | c.289_290delinsAT (p.Gly97Ile) c.181_182delinsAT (p.Gly61Ile) c.292_293delinsAT (p.Gly98Ile) c.178-17_178-16delinsAT (n.178-17_178-16delinsAT) c.182_183delinsAT (p.Trp61Tyr) n.2419_2420delinsAT n.341_342delinsAT n.215_216delinsAT c.166-75_166-74delinsAT (n.166-75_166-74delinsAT) | |
14 | g.90404382_90404383delinsCA | CA2579770121 | CALM1 | c.289_290delinsCA (p.Gly97His) c.181_182delinsCA (p.Gly61His) c.292_293delinsCA (p.Gly98His) c.178-17_178-16delinsCA (n.178-17_178-16delinsCA) c.182_183delinsCA (p.Trp61Ser) n.2419_2420delinsCA n.341_342delinsCA n.215_216delinsCA c.166-75_166-74delinsCA (n.166-75_166-74delinsCA) | |
14 | g.90404382_90404383delinsCC | CA2579770313 | CALM1 | c.289_290delinsCC (p.Gly97Pro) c.181_182delinsCC (p.Gly61Pro) c.292_293delinsCC (p.Gly98Pro) c.178-17_178-16delinsCC (n.178-17_178-16delinsCC) c.182_183delinsCC (p.Trp61Ser) n.2419_2420delinsCC n.341_342delinsCC n.215_216delinsCC c.166-75_166-74delinsCC (n.166-75_166-74delinsCC) | |
14 | g.90404382_90404383delinsCT | CA2579771190 | CALM1 | c.289_290delinsCT (p.Gly97Leu) c.181_182delinsCT (p.Gly61Leu) c.292_293delinsCT (p.Gly98Leu) c.178-17_178-16delinsCT (n.178-17_178-16delinsCT) c.182_183delinsCT (p.Trp61Ser) n.2419_2420delinsCT n.341_342delinsCT n.215_216delinsCT c.166-75_166-74delinsCT (n.166-75_166-74delinsCT) | |
14 | g.90404382_90404383delinsTA | CA2579771674 | CALM1 | c.289_290delinsTA (p.Gly97Tyr) c.181_182delinsTA (p.Gly61Tyr) c.292_293delinsTA (p.Gly98Tyr) c.178-17_178-16delinsTA (n.178-17_178-16delinsTA) c.182_183delinsTA (p.Trp61Leu) n.2419_2420delinsTA n.341_342delinsTA n.215_216delinsTA c.166-75_166-74delinsTA (n.166-75_166-74delinsTA) | |
14 | g.90404382_90404383delinsTC | CA2579769737 | CALM1 | c.289_290delinsTC (p.Gly97Ser) c.181_182delinsTC (p.Gly61Ser) c.292_293delinsTC (p.Gly98Ser) c.178-17_178-16delinsTC (n.178-17_178-16delinsTC) c.182_183delinsTC (p.Trp61Phe) n.2419_2420delinsTC n.341_342delinsTC n.215_216delinsTC c.166-75_166-74delinsTC (n.166-75_166-74delinsTC) | |
14 | g.90404382_90404383delinsTT | CA2579771438 | CALM1 | c.289_290delinsTT (p.Gly97Phe) c.181_182delinsTT (p.Gly61Phe) c.292_293delinsTT (p.Gly98Phe) c.178-17_178-16delinsTT (n.178-17_178-16delinsTT) c.182_183delinsTT (p.Trp61Phe) n.2419_2420delinsTT n.341_342delinsTT n.215_216delinsTT c.166-75_166-74delinsTT (n.166-75_166-74delinsTT) | |
14 | g.90404382_90404384delinsAAG | CA2579771654 | CALM1 | c.289_291delinsAAG (p.Gly97Lys) c.181_183delinsAAG (p.Gly61Lys) c.292_294delinsAAG (p.Gly98Lys) c.178-17_178-15delinsAAG (n.178-17_178-15delinsAAG) c.182_184delinsAAG (p.Trp61Ter) n.2419_2421delinsAAG n.341_343delinsAAG n.215_217delinsAAG c.166-75_166-73delinsAAG (n.166-75_166-73delinsAAG) | |
14 | g.90404382_90404384delinsAAT | CA2579770510 | CALM1 | c.289_291delinsAAT (p.Gly97Asn) c.181_183delinsAAT (p.Gly61Asn) c.292_294delinsAAT (p.Gly98Asn) c.178-17_178-15delinsAAT (n.178-17_178-15delinsAAT) c.182_184delinsAAT (p.Trp61Ter) n.2419_2421delinsAAT n.341_343delinsAAT n.215_217delinsAAT c.166-75_166-73delinsAAT (n.166-75_166-73delinsAAT) | |
14 | g.90404382_90404384delinsACG | CA2579771303 | CALM1 | c.289_291delinsACG (p.Gly97Thr) c.181_183delinsACG (p.Gly61Thr) c.292_294delinsACG (p.Gly98Thr) c.178-17_178-15delinsACG (n.178-17_178-15delinsACG) c.182_184delinsACG (p.Trp61_Gln62delinsTyrGlu) n.2419_2421delinsACG n.341_343delinsACG n.215_217delinsACG c.166-75_166-73delinsACG (n.166-75_166-73delinsACG) | |
14 | g.90404382_90404384delinsAGA | CA2579773017 | CALM1 | c.289_291delinsAGA (p.Gly97Arg) c.181_183delinsAGA (p.Gly61Arg) c.292_294delinsAGA (p.Gly98Arg) c.178-17_178-15delinsAGA (n.178-17_178-15delinsAGA) c.182_184delinsAGA (p.Trp61Ter) n.2419_2421delinsAGA n.341_343delinsAGA n.215_217delinsAGA c.166-75_166-73delinsAGA (n.166-75_166-73delinsAGA) | |
14 | g.90404382_90404384delinsAGG | CA2579771749 | CALM1 | c.289_291delinsAGG (p.Gly97Arg) c.181_183delinsAGG (p.Gly61Arg) c.292_294delinsAGG (p.Gly98Arg) c.178-17_178-15delinsAGG (n.178-17_178-15delinsAGG) c.182_184delinsAGG (p.Trp61Ter) n.2419_2421delinsAGG n.341_343delinsAGG n.215_217delinsAGG c.166-75_166-73delinsAGG (n.166-75_166-73delinsAGG) | |
14 | g.90404382_90404384delinsAGT | CA2579771473 | CALM1 | c.289_291delinsAGT (p.Gly97Ser) c.181_183delinsAGT (p.Gly61Ser) c.292_294delinsAGT (p.Gly98Ser) c.178-17_178-15delinsAGT (n.178-17_178-15delinsAGT) c.182_184delinsAGT (p.Trp61Ter) n.2419_2421delinsAGT n.341_343delinsAGT n.215_217delinsAGT c.166-75_166-73delinsAGT (n.166-75_166-73delinsAGT) | |
14 | g.90404382_90404384delinsATG | CA2579773371 | CALM1 | c.289_291delinsATG (p.Gly97Met) c.181_183delinsATG (p.Gly61Met) c.292_294delinsATG (p.Gly98Met) c.178-17_178-15delinsATG (n.178-17_178-15delinsATG) c.182_184delinsATG (p.Trp61_Gln62delinsTyrGlu) n.2419_2421delinsATG n.341_343delinsATG n.215_217delinsATG c.166-75_166-73delinsATG (n.166-75_166-73delinsATG) | |
14 | g.90404382_90404384delinsATT | CA2579773011 | CALM1 | c.289_291delinsATT (p.Gly97Ile) c.181_183delinsATT (p.Gly61Ile) c.292_294delinsATT (p.Gly98Ile) c.178-17_178-15delinsATT (n.178-17_178-15delinsATT) c.182_184delinsATT (p.Trp61TyrfsTer2) n.2419_2421delinsATT n.341_343delinsATT n.215_217delinsATT c.166-75_166-73delinsATT (n.166-75_166-73delinsATT) | |
14 | g.90404382_90404384delinsCAG | CA2579770325 | CALM1 | c.289_291delinsCAG (p.Gly97Gln) c.181_183delinsCAG (p.Gly61Gln) c.292_294delinsCAG (p.Gly98Gln) c.178-17_178-15delinsCAG (n.178-17_178-15delinsCAG) c.182_184delinsCAG (p.Trp61_Gln62delinsSerGlu) n.2419_2421delinsCAG n.341_343delinsCAG n.215_217delinsCAG c.166-75_166-73delinsCAG (n.166-75_166-73delinsCAG) | |
14 | g.90404382_90404384delinsCAT | CA2579772225 | CALM1 | c.289_291delinsCAT (p.Gly97His) c.181_183delinsCAT (p.Gly61His) c.292_294delinsCAT (p.Gly98His) c.178-17_178-15delinsCAT (n.178-17_178-15delinsCAT) c.182_184delinsCAT (p.Trp61SerfsTer2) n.2419_2421delinsCAT n.341_343delinsCAT n.215_217delinsCAT c.166-75_166-73delinsCAT (n.166-75_166-73delinsCAT) | |
14 | g.90404382_90404384delinsCCG | CA2579772176 | CALM1 | c.289_291delinsCCG (p.Gly97Pro) c.181_183delinsCCG (p.Gly61Pro) c.292_294delinsCCG (p.Gly98Pro) c.178-17_178-15delinsCCG (n.178-17_178-15delinsCCG) c.182_184delinsCCG (p.Trp61_Gln62delinsSerGlu) n.2419_2421delinsCCG n.341_343delinsCCG n.215_217delinsCCG c.166-75_166-73delinsCCG (n.166-75_166-73delinsCCG) | |
14 | g.90404382_90404384delinsCCT | CA2579771785 | CALM1 | c.289_291delinsCCT (p.Gly97Pro) c.181_183delinsCCT (p.Gly61Pro) c.292_294delinsCCT (p.Gly98Pro) c.178-17_178-15delinsCCT (n.178-17_178-15delinsCCT) c.182_184delinsCCT (p.Trp61SerfsTer2) n.2419_2421delinsCCT n.341_343delinsCCT n.215_217delinsCCT c.166-75_166-73delinsCCT (n.166-75_166-73delinsCCT) | |
14 | g.90404382_90404384delinsCGG | CA2579770233 | CALM1 | c.289_291delinsCGG (p.Gly97Arg) c.181_183delinsCGG (p.Gly61Arg) c.292_294delinsCGG (p.Gly98Arg) c.178-17_178-15delinsCGG (n.178-17_178-15delinsCGG) c.182_184delinsCGG (p.Trp61_Gln62delinsSerGlu) n.2419_2421delinsCGG n.341_343delinsCGG n.215_217delinsCGG c.166-75_166-73delinsCGG (n.166-75_166-73delinsCGG) | |
14 | g.90404382_90404384delinsCGT | CA2579769896 | CALM1 | c.289_291delinsCGT (p.Gly97Arg) c.181_183delinsCGT (p.Gly61Arg) c.292_294delinsCGT (p.Gly98Arg) c.178-17_178-15delinsCGT (n.178-17_178-15delinsCGT) c.182_184delinsCGT (p.Trp61SerfsTer2) n.2419_2421delinsCGT n.341_343delinsCGT n.215_217delinsCGT c.166-75_166-73delinsCGT (n.166-75_166-73delinsCGT) | |
14 | g.90404382_90404384delinsCTG | CA2579773966 | CALM1 | c.289_291delinsCTG (p.Gly97Leu) c.181_183delinsCTG (p.Gly61Leu) c.292_294delinsCTG (p.Gly98Leu) c.178-17_178-15delinsCTG (n.178-17_178-15delinsCTG) c.182_184delinsCTG (p.Trp61_Gln62delinsSerGlu) n.2419_2421delinsCTG n.341_343delinsCTG n.215_217delinsCTG c.166-75_166-73delinsCTG (n.166-75_166-73delinsCTG) | |
14 | g.90404382_90404384delinsCTT | CA2579770639 | CALM1 | c.289_291delinsCTT (p.Gly97Leu) c.181_183delinsCTT (p.Gly61Leu) c.292_294delinsCTT (p.Gly98Leu) c.178-17_178-15delinsCTT (n.178-17_178-15delinsCTT) c.182_184delinsCTT (p.Trp61SerfsTer2) n.2419_2421delinsCTT n.341_343delinsCTT n.215_217delinsCTT c.166-75_166-73delinsCTT (n.166-75_166-73delinsCTT) | |
14 | g.90404382_90404384delinsTAG | CA2579772641 | CALM1 | c.289_291delinsTAG (p.Gly97Ter) c.181_183delinsTAG (p.Gly61Ter) c.292_294delinsTAG (p.Gly98Ter) c.178-17_178-15delinsTAG (n.178-17_178-15delinsTAG) c.182_184delinsTAG (p.Trp61_Gln62delinsLeuGlu) n.2419_2421delinsTAG n.341_343delinsTAG n.215_217delinsTAG c.166-75_166-73delinsTAG (n.166-75_166-73delinsTAG) | |
14 | g.90404382_90404384delinsTAT | CA2579771310 | CALM1 | c.289_291delinsTAT (p.Gly97Tyr) c.181_183delinsTAT (p.Gly61Tyr) c.292_294delinsTAT (p.Gly98Tyr) c.178-17_178-15delinsTAT (n.178-17_178-15delinsTAT) c.182_184delinsTAT (p.Trp61LeufsTer2) n.2419_2421delinsTAT n.341_343delinsTAT n.215_217delinsTAT c.166-75_166-73delinsTAT (n.166-75_166-73delinsTAT) | |
14 | g.90404382_90404384delinsTCG | CA2579771382 | CALM1 | c.289_291delinsTCG (p.Gly97Ser) c.181_183delinsTCG (p.Gly61Ser) c.292_294delinsTCG (p.Gly98Ser) c.178-17_178-15delinsTCG (n.178-17_178-15delinsTCG) c.182_184delinsTCG (p.Trp61_Gln62delinsPheGlu) n.2419_2421delinsTCG n.341_343delinsTCG n.215_217delinsTCG c.166-75_166-73delinsTCG (n.166-75_166-73delinsTCG) | |
14 | g.90404382_90404384delinsTCT | CA2579770787 | CALM1 | c.289_291delinsTCT (p.Gly97Ser) c.181_183delinsTCT (p.Gly61Ser) c.292_294delinsTCT (p.Gly98Ser) c.178-17_178-15delinsTCT (n.178-17_178-15delinsTCT) c.182_184delinsTCT (p.Trp61PhefsTer2) n.2419_2421delinsTCT n.341_343delinsTCT n.215_217delinsTCT c.166-75_166-73delinsTCT (n.166-75_166-73delinsTCT) | |
14 | g.90404382_90404384delinsTGG | CA2579771834 | CALM1 | c.289_291delinsTGG (p.Gly97Trp) c.181_183delinsTGG (p.Gly61Trp) c.292_294delinsTGG (p.Gly98Trp) c.178-17_178-15delinsTGG (n.178-17_178-15delinsTGG) c.182_184delinsTGG (p.Trp61_Gln62delinsLeuGlu) n.2419_2421delinsTGG n.341_343delinsTGG n.215_217delinsTGG c.166-75_166-73delinsTGG (n.166-75_166-73delinsTGG) | |
14 | g.90404382_90404384delinsTGT | CA2579770883 | CALM1 | c.289_291delinsTGT (p.Gly97Cys) c.181_183delinsTGT (p.Gly61Cys) c.292_294delinsTGT (p.Gly98Cys) c.178-17_178-15delinsTGT (n.178-17_178-15delinsTGT) c.182_184delinsTGT (p.Trp61LeufsTer2) n.2419_2421delinsTGT n.341_343delinsTGT n.215_217delinsTGT c.166-75_166-73delinsTGT (n.166-75_166-73delinsTGT) | |
14 | g.90404382_90404384delinsTTG | CA2579769937 | CALM1 | c.289_291delinsTTG (p.Gly97Leu) c.181_183delinsTTG (p.Gly61Leu) c.292_294delinsTTG (p.Gly98Leu) c.178-17_178-15delinsTTG (n.178-17_178-15delinsTTG) c.182_184delinsTTG (p.Trp61_Gln62delinsPheGlu) n.2419_2421delinsTTG n.341_343delinsTTG n.215_217delinsTTG c.166-75_166-73delinsTTG (n.166-75_166-73delinsTTG) | |
14 | g.90404382_90404384delinsTTT | CA2579770127 | CALM1 | c.289_291delinsTTT (p.Gly97Phe) c.181_183delinsTTT (p.Gly61Phe) c.292_294delinsTTT (p.Gly98Phe) c.178-17_178-15delinsTTT (n.178-17_178-15delinsTTT) c.182_184delinsTTT (p.Trp61PhefsTer2) n.2419_2421delinsTTT n.341_343delinsTTT n.215_217delinsTTT c.166-75_166-73delinsTTT (n.166-75_166-73delinsTTT) | |
14 | g.90404383G>A | CA390690109 | CALM1 | c.290G>A (p.Gly97Asp) c.182G>A (p.Gly61Asp) c.293G>A (p.Gly98Asp) c.178-16G>A (n.178-16G>A) c.183G>A (p.Trp61Ter) n.2420G>A n.342G>A n.216G>A c.166-74G>A (n.166-74G>A) | gnomAD v4 |
14 | g.90404383G>C | CA390690110 | CALM1 | c.290G>C (p.Gly97Ala) c.182G>C (p.Gly61Ala) c.293G>C (p.Gly98Ala) c.178-16G>C (n.178-16G>C) c.183G>C (p.Trp61Cys) n.2420G>C n.342G>C n.216G>C c.166-74G>C (n.166-74G>C) | |
14 | g.90404383G>T | CA390690111 | CALM1 | c.290G>T (p.Gly97Val) c.182G>T (p.Gly61Val) c.293G>T (p.Gly98Val) c.178-16G>T (n.178-16G>T) c.183G>T (p.Trp61Cys) n.2420G>T n.342G>T n.216G>T c.166-74G>T (n.166-74G>T) | |
14 | g.90404383_90404384delinsAA | CA2579772773 | CALM1 | c.290_291delinsAA (p.Gly97Glu) c.182_183delinsAA (p.Gly61Glu) c.293_294delinsAA (p.Gly98Glu) c.178-16_178-15delinsAA (n.178-16_178-15delinsAA) c.183_184delinsAA (p.Trp61Ter) n.2420_2421delinsAA n.342_343delinsAA n.216_217delinsAA c.166-74_166-73delinsAA (n.166-74_166-73delinsAA) | |
14 | g.90404383_90404384delinsAG | CA2579771975 | CALM1 | c.290_291delinsAG (p.Gly97Glu) c.182_183delinsAG (p.Gly61Glu) c.293_294delinsAG (p.Gly98Glu) c.178-16_178-15delinsAG (n.178-16_178-15delinsAG) c.183_184delinsAG (p.Trp61Ter) n.2420_2421delinsAG n.342_343delinsAG n.216_217delinsAG c.166-74_166-73delinsAG (n.166-74_166-73delinsAG) | |
14 | g.90404383_90404384delinsAT | CA2579771890 | CALM1 | c.290_291delinsAT (p.Gly97Asp) c.182_183delinsAT (p.Gly61Asp) c.293_294delinsAT (p.Gly98Asp) c.178-16_178-15delinsAT (n.178-16_178-15delinsAT) c.183_184delinsAT (p.Trp61Ter) n.2420_2421delinsAT n.342_343delinsAT n.216_217delinsAT c.166-74_166-73delinsAT (n.166-74_166-73delinsAT) | |
14 | g.90404383_90404384delinsCG | CA2579772309 | CALM1 | c.290_291delinsCG (p.Gly97Ala) c.182_183delinsCG (p.Gly61Ala) c.293_294delinsCG (p.Gly98Ala) c.178-16_178-15delinsCG (n.178-16_178-15delinsCG) c.183_184delinsCG (p.Trp61_Gln62delinsCysGlu) n.2420_2421delinsCG n.342_343delinsCG n.216_217delinsCG c.166-74_166-73delinsCG (n.166-74_166-73delinsCG) | |
14 | g.90404383_90404384delinsCT | CA2579770272 | CALM1 | c.290_291delinsCT (p.Gly97Ala) c.182_183delinsCT (p.Gly61Ala) c.293_294delinsCT (p.Gly98Ala) c.178-16_178-15delinsCT (n.178-16_178-15delinsCT) c.183_184delinsCT (p.Trp61CysfsTer2) n.2420_2421delinsCT n.342_343delinsCT n.216_217delinsCT c.166-74_166-73delinsCT (n.166-74_166-73delinsCT) | |
14 | g.90404383_90404384delinsTG | CA2579770550 | CALM1 | c.290_291delinsTG (p.Gly97Val) c.182_183delinsTG (p.Gly61Val) c.293_294delinsTG (p.Gly98Val) c.178-16_178-15delinsTG (n.178-16_178-15delinsTG) c.183_184delinsTG (p.Trp61_Gln62delinsCysGlu) n.2420_2421delinsTG n.342_343delinsTG n.216_217delinsTG c.166-74_166-73delinsTG (n.166-74_166-73delinsTG) | |
14 | g.90404383_90404384delinsTT | CA2579771433 | CALM1 | c.290_291delinsTT (p.Gly97Val) c.182_183delinsTT (p.Gly61Val) c.293_294delinsTT (p.Gly98Val) c.178-16_178-15delinsTT (n.178-16_178-15delinsTT) c.183_184delinsTT (p.Trp61CysfsTer2) n.2420_2421delinsTT n.342_343delinsTT n.216_217delinsTT c.166-74_166-73delinsTT (n.166-74_166-73delinsTT) | |
14 | g.90404384C>A | CA487760011 | CALM1 | c.291C>A (p.Gly97=) c.183C>A (p.Gly61=) c.294C>A (p.Gly98=) c.178-15C>A (n.178-15C>A) c.184C>A (p.Gln62Lys) n.2421C>A n.343C>A n.217C>A c.166-73C>A (n.166-73C>A) | gnomAD v4 |
14 | g.90404384C= | CA2154484045 | CALM1 | c.291C= (p.Gly97=) c.183C= (p.Gly61=) c.294C= (p.Gly98=) c.178-15C= (n.178-15C=) c.184C= (p.Gln62=) n.2421C= n.343C= n.217C= c.166-73C= (n.166-73C=) | |
14 | g.90404384C>G | CA487760013 | CALM1 | c.291C>G (p.Gly97=) c.183C>G (p.Gly61=) c.294C>G (p.Gly98=) c.178-15C>G (n.178-15C>G) c.184C>G (p.Gln62Glu) n.2421C>G n.343C>G n.217C>G c.166-73C>G (n.166-73C>G) | |
14 | g.90404384C>T | CA487760014 | CALM1 | c.291C>T (p.Gly97=) c.183C>T (p.Gly61=) c.294C>T (p.Gly98=) c.178-15C>T (n.178-15C>T) c.184C>T (p.Gln62Ter) n.2421C>T n.343C>T n.217C>T c.166-73C>T (n.166-73C>T) | dbSNP |
14 | g.90404385A>C | CA390690112 | CALM1 | c.292A>C (p.Asn98His) c.184A>C (p.Asn62His) c.295A>C (p.Asn99His) c.178-14A>C (n.178-14A>C) c.185A>C (p.Gln62Pro) n.2422A>C n.344A>C n.218A>C c.166-72A>C (n.166-72A>C) | |
14 | g.90404385A>G | CA390690113 | CALM1 | c.292A>G (p.Asn98Asp) c.184A>G (p.Asn62Asp) c.295A>G (p.Asn99Asp) c.178-14A>G (n.178-14A>G) c.185A>G (p.Gln62Arg) n.2422A>G n.344A>G n.218A>G c.166-72A>G (n.166-72A>G) | |
14 | g.90404385A>T | CA390690114 | CALM1 | c.292A>T (p.Asn98Tyr) c.184A>T (p.Asn62Tyr) c.295A>T (p.Asn99Tyr) c.178-14A>T (n.178-14A>T) c.185A>T (p.Gln62Leu) n.2422A>T n.344A>T n.218A>T c.166-72A>T (n.166-72A>T) | |
14 | g.90404385_90404386delinsCC | CA2579773924 | CALM1 | c.292_293delinsCC (p.Asn98Pro) c.184_185delinsCC (p.Asn62Pro) c.295_296delinsCC (p.Asn99Pro) c.178-14_178-13delinsCC (n.178-14_178-13delinsCC) c.185_186delinsCC (p.Gln62Pro) n.2422_2423delinsCC n.344_345delinsCC n.218_219delinsCC c.166-72_166-71delinsCC (n.166-72_166-71delinsCC) | |
14 | g.90404385_90404386delinsCT | CA2579773531 | CALM1 | c.292_293delinsCT (p.Asn98Leu) c.184_185delinsCT (p.Asn62Leu) c.295_296delinsCT (p.Asn99Leu) c.178-14_178-13delinsCT (n.178-14_178-13delinsCT) c.185_186delinsCT (p.Gln62Pro) n.2422_2423delinsCT n.344_345delinsCT n.218_219delinsCT c.166-72_166-71delinsCT (n.166-72_166-71delinsCT) | |
14 | g.90404385_90404386delinsGC | CA2579772445 | CALM1 | c.292_293delinsGC (p.Asn98Ala) c.184_185delinsGC (p.Asn62Ala) c.295_296delinsGC (p.Asn99Ala) c.178-14_178-13delinsGC (n.178-14_178-13delinsGC) c.185_186delinsGC (p.Gln62Arg) n.2422_2423delinsGC n.344_345delinsGC n.218_219delinsGC c.166-72_166-71delinsGC (n.166-72_166-71delinsGC) | |
14 | g.90404385_90404386delinsGG | CA2579770451 | CALM1 | c.292_293delinsGG (p.Asn98Gly) c.184_185delinsGG (p.Asn62Gly) c.295_296delinsGG (p.Asn99Gly) c.178-14_178-13delinsGG (n.178-14_178-13delinsGG) c.185_186delinsGG (p.Gln62Arg) n.2422_2423delinsGG n.344_345delinsGG n.218_219delinsGG c.166-72_166-71delinsGG (n.166-72_166-71delinsGG) | |
14 | g.90404385_90404386delinsGT | CA2579770965 | CALM1 | c.292_293delinsGT (p.Asn98Val) c.184_185delinsGT (p.Asn62Val) c.295_296delinsGT (p.Asn99Val) c.178-14_178-13delinsGT (n.178-14_178-13delinsGT) c.185_186delinsGT (p.Gln62Arg) n.2422_2423delinsGT n.344_345delinsGT n.218_219delinsGT c.166-72_166-71delinsGT (n.166-72_166-71delinsGT) | |
14 | g.90404385_90404386delinsTC | CA2579772799 | CALM1 | c.292_293delinsTC (p.Asn98Ser) c.184_185delinsTC (p.Asn62Ser) c.295_296delinsTC (p.Asn99Ser) c.178-14_178-13delinsTC (n.178-14_178-13delinsTC) c.185_186delinsTC (p.Gln62Leu) n.2422_2423delinsTC n.344_345delinsTC n.218_219delinsTC c.166-72_166-71delinsTC (n.166-72_166-71delinsTC) | |
14 | g.90404385_90404386delinsTG | CA2579774132 | CALM1 | c.292_293delinsTG (p.Asn98Cys) c.184_185delinsTG (p.Asn62Cys) c.295_296delinsTG (p.Asn99Cys) c.178-14_178-13delinsTG (n.178-14_178-13delinsTG) c.185_186delinsTG (p.Gln62Leu) n.2422_2423delinsTG n.344_345delinsTG n.218_219delinsTG c.166-72_166-71delinsTG (n.166-72_166-71delinsTG) | |
14 | g.90404385_90404386delinsTT | CA2579770828 | CALM1 | c.292_293delinsTT (p.Asn98Phe) c.184_185delinsTT (p.Asn62Phe) c.295_296delinsTT (p.Asn99Phe) c.178-14_178-13delinsTT (n.178-14_178-13delinsTT) c.185_186delinsTT (p.Gln62Leu) n.2422_2423delinsTT n.344_345delinsTT n.218_219delinsTT c.166-72_166-71delinsTT (n.166-72_166-71delinsTT) | |
14 | g.90404385_90404387delinsCAC | CA2579771729 | CALM1 | c.292_294delinsCAC (p.Asn98His) c.184_186delinsCAC (p.Asn62His) c.295_297delinsCAC (p.Asn99His) c.178-14_178-12delinsCAC (n.178-14_178-12delinsCAC) c.185_187delinsCAC (p.Gln62_Trp63delinsProArg) n.2422_2424delinsCAC n.344_346delinsCAC n.218_220delinsCAC c.166-72_166-70delinsCAC (n.166-72_166-70delinsCAC) | |
14 | g.90404385_90404387delinsCAG | CA2579772457 | CALM1 | c.292_294delinsCAG (p.Asn98Gln) c.184_186delinsCAG (p.Asn62Gln) c.295_297delinsCAG (p.Asn99Gln) c.178-14_178-12delinsCAG (n.178-14_178-12delinsCAG) c.185_187delinsCAG (p.Gln62_Trp63delinsProGly) n.2422_2424delinsCAG n.344_346delinsCAG n.218_220delinsCAG c.166-72_166-70delinsCAG (n.166-72_166-70delinsCAG) | |
14 | g.90404385_90404387delinsCCG | CA2579771300 | CALM1 | c.292_294delinsCCG (p.Asn98Pro) c.184_186delinsCCG (p.Asn62Pro) c.295_297delinsCCG (p.Asn99Pro) c.178-14_178-12delinsCCG (n.178-14_178-12delinsCCG) c.185_187delinsCCG (p.Gln62_Trp63delinsProGly) n.2422_2424delinsCCG n.344_346delinsCCG n.218_220delinsCCG c.166-72_166-70delinsCCG (n.166-72_166-70delinsCCG) | |
14 | g.90404385_90404387delinsGAA | CA2579773158 | CALM1 | c.292_294delinsGAA (p.Asn98Glu) c.184_186delinsGAA (p.Asn62Glu) c.295_297delinsGAA (p.Asn99Glu) c.178-14_178-12delinsGAA (n.178-14_178-12delinsGAA) c.185_187delinsGAA (p.Gln62_Trp63delinsArgArg) n.2422_2424delinsGAA n.344_346delinsGAA n.218_220delinsGAA c.166-72_166-70delinsGAA (n.166-72_166-70delinsGAA) | |
14 | g.90404385_90404387delinsGAC | CA2579773299 | CALM1 | c.292_294delinsGAC (p.Asn98Asp) c.184_186delinsGAC (p.Asn62Asp) c.295_297delinsGAC (p.Asn99Asp) c.178-14_178-12delinsGAC (n.178-14_178-12delinsGAC) c.185_187delinsGAC (p.Gln62_Trp63delinsArgArg) n.2422_2424delinsGAC n.344_346delinsGAC n.218_220delinsGAC c.166-72_166-70delinsGAC (n.166-72_166-70delinsGAC) | |
14 | g.90404385_90404387delinsGAG | CA2579772766 | CALM1 | c.292_294delinsGAG (p.Asn98Glu) c.184_186delinsGAG (p.Asn62Glu) c.295_297delinsGAG (p.Asn99Glu) c.178-14_178-12delinsGAG (n.178-14_178-12delinsGAG) c.185_187delinsGAG (p.Gln62_Trp63delinsArgGly) n.2422_2424delinsGAG n.344_346delinsGAG n.218_220delinsGAG c.166-72_166-70delinsGAG (n.166-72_166-70delinsGAG) | |
14 | g.90404385_90404387delinsGTG | CA2579771835 | CALM1 | c.292_294delinsGTG (p.Asn98Val) c.184_186delinsGTG (p.Asn62Val) c.295_297delinsGTG (p.Asn99Val) c.178-14_178-12delinsGTG (n.178-14_178-12delinsGTG) c.185_187delinsGTG (p.Gln62_Trp63delinsArgGly) n.2422_2424delinsGTG n.344_346delinsGTG n.218_220delinsGTG c.166-72_166-70delinsGTG (n.166-72_166-70delinsGTG) | |
14 | g.90404385_90404387delinsTAC | CA2579771909 | CALM1 | c.292_294delinsTAC (p.Asn98Tyr) c.184_186delinsTAC (p.Asn62Tyr) c.295_297delinsTAC (p.Asn99Tyr) c.178-14_178-12delinsTAC (n.178-14_178-12delinsTAC) c.185_187delinsTAC (p.Gln62_Trp63delinsLeuArg) n.2422_2424delinsTAC n.344_346delinsTAC n.218_220delinsTAC c.166-72_166-70delinsTAC (n.166-72_166-70delinsTAC) | |
14 | g.90404385_90404387delinsTAG | CA2579773594 | CALM1 | c.292_294delinsTAG (p.Asn98Ter) c.184_186delinsTAG (p.Asn62Ter) c.295_297delinsTAG (p.Asn99Ter) c.178-14_178-12delinsTAG (n.178-14_178-12delinsTAG) c.185_187delinsTAG (p.Gln62_Trp63delinsLeuGly) n.2422_2424delinsTAG n.344_346delinsTAG n.218_220delinsTAG c.166-72_166-70delinsTAG (n.166-72_166-70delinsTAG) | |
14 | g.90404385_90404387delinsTCG | CA2579773136 | CALM1 | c.292_294delinsTCG (p.Asn98Ser) c.184_186delinsTCG (p.Asn62Ser) c.295_297delinsTCG (p.Asn99Ser) c.178-14_178-12delinsTCG (n.178-14_178-12delinsTCG) c.185_187delinsTCG (p.Gln62_Trp63delinsLeuGly) n.2422_2424delinsTCG n.344_346delinsTCG n.218_220delinsTCG c.166-72_166-70delinsTCG (n.166-72_166-70delinsTCG) | |
14 | g.90404385_90404387delinsTTG | CA2579770679 | CALM1 | c.292_294delinsTTG (p.Asn98Leu) c.184_186delinsTTG (p.Asn62Leu) c.295_297delinsTTG (p.Asn99Leu) c.178-14_178-12delinsTTG (n.178-14_178-12delinsTTG) c.185_187delinsTTG (p.Gln62_Trp63delinsLeuGly) n.2422_2424delinsTTG n.344_346delinsTTG n.218_220delinsTTG c.166-72_166-70delinsTTG (n.166-72_166-70delinsTTG) | |
14 | g.90404386A= | CA2154484055 | CALM1 | c.293A= (p.Asn98=) c.185A= (p.Asn62=) c.296A= (p.Asn99=) c.178-13A= (n.178-13A=) c.186A= (p.Gln62=) n.2423A= n.345A= n.219A= c.166-71A= (n.166-71A=) | |
14 | g.90404386A>C | CA390690116 | CALM1 | c.293A>C (p.Asn98Thr) c.185A>C (p.Asn62Thr) c.296A>C (p.Asn99Thr) c.178-13A>C (n.178-13A>C) c.186A>C (p.Gln62His) n.2423A>C n.345A>C n.219A>C c.166-71A>C (n.166-71A>C) | |
14 | g.90404386A>G | CA343812 | CALM1 | c.293A>G (p.Asn98Ser) c.185A>G (p.Asn62Ser) c.296A>G (p.Asn99Ser) c.178-13A>G (n.178-13A>G) c.186A>G (p.Gln62=) n.2423A>G n.345A>G n.219A>G c.166-71A>G (n.166-71A>G) | ClinVar dbSNP |
14 | g.90404386A>T | CA390690115 | CALM1 | c.293A>T (p.Asn98Ile) c.185A>T (p.Asn62Ile) c.296A>T (p.Asn99Ile) c.178-13A>T (n.178-13A>T) c.186A>T (p.Gln62His) n.2423A>T n.345A>T n.219A>T c.166-71A>T (n.166-71A>T) | |
14 | g.90404386_90404387delinsCG | CA2579770288 | CALM1 | c.293_294delinsCG (p.Asn98Thr) c.185_186delinsCG (p.Asn62Thr) c.296_297delinsCG (p.Asn99Thr) c.178-13_178-12delinsCG (n.178-13_178-12delinsCG) c.186_187delinsCG (p.Gln62_Trp63delinsHisGly) n.2423_2424delinsCG n.345_346delinsCG n.219_220delinsCG c.166-71_166-70delinsCG (n.166-71_166-70delinsCG) | |
14 | g.90404386_90404387delinsGA | CA2579771928 | CALM1 | c.293_294delinsGA (p.Asn98Arg) c.185_186delinsGA (p.Asn62Arg) c.296_297delinsGA (p.Asn99Arg) c.178-13_178-12delinsGA (n.178-13_178-12delinsGA) c.186_187delinsGA (p.Trp63Arg) n.2423_2424delinsGA n.345_346delinsGA n.219_220delinsGA c.166-71_166-70delinsGA (n.166-71_166-70delinsGA) | |
14 | g.90404386_90404387delinsGC | CA2579773221 | CALM1 | c.293_294delinsGC (p.Asn98Ser) c.185_186delinsGC (p.Asn62Ser) c.296_297delinsGC (p.Asn99Ser) c.178-13_178-12delinsGC (n.178-13_178-12delinsGC) c.186_187delinsGC (p.Trp63Arg) n.2423_2424delinsGC n.345_346delinsGC n.219_220delinsGC c.166-71_166-70delinsGC (n.166-71_166-70delinsGC) | |
14 | g.90404386_90404387delinsGG | CA2579772510 | CALM1 | c.293_294delinsGG (p.Asn98Arg) c.185_186delinsGG (p.Asn62Arg) c.296_297delinsGG (p.Asn99Arg) c.178-13_178-12delinsGG (n.178-13_178-12delinsGG) c.186_187delinsGG (p.Trp63Gly) n.2423_2424delinsGG n.345_346delinsGG n.219_220delinsGG c.166-71_166-70delinsGG (n.166-71_166-70delinsGG) | |
14 | g.90404386_90404387delinsTC | CA2579770808 | CALM1 | c.293_294delinsTC (p.Asn98Ile) c.185_186delinsTC (p.Asn62Ile) c.296_297delinsTC (p.Asn99Ile) c.178-13_178-12delinsTC (n.178-13_178-12delinsTC) c.186_187delinsTC (p.Gln62_Trp63delinsHisArg) n.2423_2424delinsTC n.345_346delinsTC n.219_220delinsTC c.166-71_166-70delinsTC (n.166-71_166-70delinsTC) | |
14 | g.90404386_90404387delinsTG | CA2579771857 | CALM1 | c.293_294delinsTG (p.Asn98Met) c.185_186delinsTG (p.Asn62Met) c.296_297delinsTG (p.Asn99Met) c.178-13_178-12delinsTG (n.178-13_178-12delinsTG) c.186_187delinsTG (p.Gln62_Trp63delinsHisGly) n.2423_2424delinsTG n.345_346delinsTG n.219_220delinsTG c.166-71_166-70delinsTG (n.166-71_166-70delinsTG) | |
14 | g.90404387T>A | CA390690117 | CALM1 | c.294T>A (p.Asn98Lys) c.186T>A (p.Asn62Lys) c.297T>A (p.Asn99Lys) c.178-12T>A (n.178-12T>A) c.187T>A (p.Trp63Arg) n.2424T>A n.346T>A n.220T>A c.166-70T>A (n.166-70T>A) | |
14 | g.90404387T>C | CA487760022 | CALM1 | c.294T>C (p.Asn98=) c.186T>C (p.Asn62=) c.297T>C (p.Asn99=) c.178-12T>C (n.178-12T>C) c.187T>C (p.Trp63Arg) n.2424T>C n.346T>C n.220T>C c.166-70T>C (n.166-70T>C) | |
14 | g.90404387T>G | CA390690118 | CALM1 | c.294T>G (p.Asn98Lys) c.186T>G (p.Asn62Lys) c.297T>G (p.Asn99Lys) c.178-12T>G (n.178-12T>G) c.187T>G (p.Trp63Gly) n.2424T>G n.346T>G n.220T>G c.166-70T>G (n.166-70T>G) | |
14 | g.90404388G>A | CA390690119 | CALM1 | c.295G>A (p.Gly99Ser) c.187G>A (p.Gly63Ser) c.298G>A (p.Gly100Ser) c.178-11G>A (n.178-11G>A) c.188G>A (p.Trp63Ter) n.2425G>A n.347G>A n.221G>A c.166-69G>A (n.166-69G>A) | |
14 | g.90404388G>C | CA390690120 | CALM1 | c.295G>C (p.Gly99Arg) c.187G>C (p.Gly63Arg) c.298G>C (p.Gly100Arg) c.178-11G>C (n.178-11G>C) c.188G>C (p.Trp63Ser) n.2425G>C n.347G>C n.221G>C c.166-69G>C (n.166-69G>C) | |
14 | g.90404388G>T | CA390690121 | CALM1 | c.295G>T (p.Gly99Cys) c.187G>T (p.Gly63Cys) c.298G>T (p.Gly100Cys) c.178-11G>T (n.178-11G>T) c.188G>T (p.Trp63Leu) n.2425G>T n.347G>T n.221G>T c.166-69G>T (n.166-69G>T) | |
14 | g.90404388_90404389delinsAA | CA2579769928 | CALM1 | c.295_296delinsAA (p.Gly99Asn) c.187_188delinsAA (p.Gly63Asn) c.298_299delinsAA (p.Gly100Asn) c.178-11_178-10delinsAA (n.178-11_178-10delinsAA) c.188_189delinsAA (p.Trp63Ter) n.2425_2426delinsAA n.347_348delinsAA n.221_222delinsAA c.166-69_166-68delinsAA (n.166-69_166-68delinsAA) | |
14 | g.90404388_90404389delinsAC | CA2579771084 | CALM1 | c.295_296delinsAC (p.Gly99Thr) c.187_188delinsAC (p.Gly63Thr) c.298_299delinsAC (p.Gly100Thr) c.178-11_178-10delinsAC (n.178-11_178-10delinsAC) c.188_189delinsAC (p.Trp63Tyr) n.2425_2426delinsAC n.347_348delinsAC n.221_222delinsAC c.166-69_166-68delinsAC (n.166-69_166-68delinsAC) | |
14 | g.90404388_90404389delinsAT | CA2579773767 | CALM1 | c.295_296delinsAT (p.Gly99Ile) c.187_188delinsAT (p.Gly63Ile) c.298_299delinsAT (p.Gly100Ile) c.178-11_178-10delinsAT (n.178-11_178-10delinsAT) c.188_189delinsAT (p.Trp63Tyr) n.2425_2426delinsAT n.347_348delinsAT n.221_222delinsAT c.166-69_166-68delinsAT (n.166-69_166-68delinsAT) | |
14 | g.90404388_90404389delinsCA | CA2579773238 | CALM1 | c.295_296delinsCA (p.Gly99His) c.187_188delinsCA (p.Gly63His) c.298_299delinsCA (p.Gly100His) c.178-11_178-10delinsCA (n.178-11_178-10delinsCA) c.188_189delinsCA (p.Trp63Ser) n.2425_2426delinsCA n.347_348delinsCA n.221_222delinsCA c.166-69_166-68delinsCA (n.166-69_166-68delinsCA) | |
14 | g.90404388_90404389delinsCC | CA2579771591 | CALM1 | c.295_296delinsCC (p.Gly99Pro) c.187_188delinsCC (p.Gly63Pro) c.298_299delinsCC (p.Gly100Pro) c.178-11_178-10delinsCC (n.178-11_178-10delinsCC) c.188_189delinsCC (p.Trp63Ser) n.2425_2426delinsCC n.347_348delinsCC n.221_222delinsCC c.166-69_166-68delinsCC (n.166-69_166-68delinsCC) | |
14 | g.90404388_90404389delinsCT | CA2579770577 | CALM1 | c.295_296delinsCT (p.Gly99Leu) c.187_188delinsCT (p.Gly63Leu) c.298_299delinsCT (p.Gly100Leu) c.178-11_178-10delinsCT (n.178-11_178-10delinsCT) c.188_189delinsCT (p.Trp63Ser) n.2425_2426delinsCT n.347_348delinsCT n.221_222delinsCT c.166-69_166-68delinsCT (n.166-69_166-68delinsCT) | |
14 | g.90404388_90404389delinsTA | CA2579773971 | CALM1 | c.295_296delinsTA (p.Gly99Tyr) c.187_188delinsTA (p.Gly63Tyr) c.298_299delinsTA (p.Gly100Tyr) c.178-11_178-10delinsTA (n.178-11_178-10delinsTA) c.188_189delinsTA (p.Trp63Leu) n.2425_2426delinsTA n.347_348delinsTA n.221_222delinsTA c.166-69_166-68delinsTA (n.166-69_166-68delinsTA) | |
14 | g.90404388_90404389delinsTC | CA2579774101 | CALM1 | c.295_296delinsTC (p.Gly99Ser) c.187_188delinsTC (p.Gly63Ser) c.298_299delinsTC (p.Gly100Ser) c.178-11_178-10delinsTC (n.178-11_178-10delinsTC) c.188_189delinsTC (p.Trp63Phe) n.2425_2426delinsTC n.347_348delinsTC n.221_222delinsTC c.166-69_166-68delinsTC (n.166-69_166-68delinsTC) | |
14 | g.90404388_90404389delinsTT | CA2579770473 | CALM1 | c.295_296delinsTT (p.Gly99Phe) c.187_188delinsTT (p.Gly63Phe) c.298_299delinsTT (p.Gly100Phe) c.178-11_178-10delinsTT (n.178-11_178-10delinsTT) c.188_189delinsTT (p.Trp63Phe) n.2425_2426delinsTT n.347_348delinsTT n.221_222delinsTT c.166-69_166-68delinsTT (n.166-69_166-68delinsTT) | |
14 | g.90404388_90404390delinsAAG | CA2579771747 | CALM1 | c.295_297delinsAAG (p.Gly99Lys) c.187_189delinsAAG (p.Gly63Lys) c.298_300delinsAAG (p.Gly100Lys) c.178-11_178-9delinsAAG (n.178-11_178-9delinsAAG) c.188_190delinsAAG (p.Trp63Ter) n.2425_2427delinsAAG n.347_349delinsAAG n.221_223delinsAAG c.166-69_166-67delinsAAG (n.166-69_166-67delinsAAG) | |
14 | g.90404388_90404390delinsAGA | CA2579771036 | CALM1 | c.295_297delinsAGA (p.Gly99Arg) c.187_189delinsAGA (p.Gly63Arg) c.298_300delinsAGA (p.Gly100Arg) c.178-11_178-9delinsAGA (n.178-11_178-9delinsAGA) c.188_190delinsAGA (p.Trp63Ter) n.2425_2427delinsAGA n.347_349delinsAGA n.221_223delinsAGA c.166-69_166-67delinsAGA (n.166-69_166-67delinsAGA) | |
14 | g.90404388_90404390delinsAGC | CA2579770990 | CALM1 | c.295_297delinsAGC (p.Gly99Ser) c.187_189delinsAGC (p.Gly63Ser) c.298_300delinsAGC (p.Gly100Ser) c.178-11_178-9delinsAGC (n.178-11_178-9delinsAGC) c.188_190delinsAGC (p.Trp63Ter) n.2425_2427delinsAGC n.347_349delinsAGC n.221_223delinsAGC c.166-69_166-67delinsAGC (n.166-69_166-67delinsAGC) | |
14 | g.90404388_90404390delinsAGG | CA2579771657 | CALM1 | c.295_297delinsAGG (p.Gly99Arg) c.187_189delinsAGG (p.Gly63Arg) c.298_300delinsAGG (p.Gly100Arg) c.178-11_178-9delinsAGG (n.178-11_178-9delinsAGG) c.188_190delinsAGG (p.Trp63Ter) n.2425_2427delinsAGG n.347_349delinsAGG n.221_223delinsAGG c.166-69_166-67delinsAGG (n.166-69_166-67delinsAGG) | |
14 | g.90404388_90404390delinsATG | CA2579771025 | CALM1 | c.295_297delinsATG (p.Gly99Met) c.187_189delinsATG (p.Gly63Met) c.298_300delinsATG (p.Gly100Met) c.178-11_178-9delinsATG (n.178-11_178-9delinsATG) c.188_190delinsATG (p.Trp63_Leu64delinsTyrVal) n.2425_2427delinsATG n.347_349delinsATG n.221_223delinsATG c.166-69_166-67delinsATG (n.166-69_166-67delinsATG) | |
14 | g.90404388_90404390delinsCAG | CA2579770213 | CALM1 | c.295_297delinsCAG (p.Gly99Gln) c.187_189delinsCAG (p.Gly63Gln) c.298_300delinsCAG (p.Gly100Gln) c.178-11_178-9delinsCAG (n.178-11_178-9delinsCAG) c.188_190delinsCAG (p.Trp63_Leu64delinsSerVal) n.2425_2427delinsCAG n.347_349delinsCAG n.221_223delinsCAG c.166-69_166-67delinsCAG (n.166-69_166-67delinsCAG) | |
14 | g.90404388_90404390delinsCCG | CA2579773990 | CALM1 | c.295_297delinsCCG (p.Gly99Pro) c.187_189delinsCCG (p.Gly63Pro) c.298_300delinsCCG (p.Gly100Pro) c.178-11_178-9delinsCCG (n.178-11_178-9delinsCCG) c.188_190delinsCCG (p.Trp63_Leu64delinsSerVal) n.2425_2427delinsCCG n.347_349delinsCCG n.221_223delinsCCG c.166-69_166-67delinsCCG (n.166-69_166-67delinsCCG) | |
14 | g.90404388_90404390delinsCGC | CA2579773953 | CALM1 | c.295_297delinsCGC (p.Gly99Arg) c.187_189delinsCGC (p.Gly63Arg) c.298_300delinsCGC (p.Gly100Arg) c.178-11_178-9delinsCGC (n.178-11_178-9delinsCGC) c.188_190delinsCGC (p.Trp63Ser) n.2425_2427delinsCGC n.347_349delinsCGC n.221_223delinsCGC c.166-69_166-67delinsCGC (n.166-69_166-67delinsCGC) | |
14 | g.90404388_90404390delinsCGG | CA2579771865 | CALM1 | c.295_297delinsCGG (p.Gly99Arg) c.187_189delinsCGG (p.Gly63Arg) c.298_300delinsCGG (p.Gly100Arg) c.178-11_178-9delinsCGG (n.178-11_178-9delinsCGG) c.188_190delinsCGG (p.Trp63_Leu64delinsSerVal) n.2425_2427delinsCGG n.347_349delinsCGG n.221_223delinsCGG c.166-69_166-67delinsCGG (n.166-69_166-67delinsCGG) | |
14 | g.90404388_90404390delinsCTG | CA2579770425 | CALM1 | c.295_297delinsCTG (p.Gly99Leu) c.187_189delinsCTG (p.Gly63Leu) c.298_300delinsCTG (p.Gly100Leu) c.178-11_178-9delinsCTG (n.178-11_178-9delinsCTG) c.188_190delinsCTG (p.Trp63_Leu64delinsSerVal) n.2425_2427delinsCTG n.347_349delinsCTG n.221_223delinsCTG c.166-69_166-67delinsCTG (n.166-69_166-67delinsCTG) | |
14 | g.90404388_90404390delinsTAG | CA2579770721 | CALM1 | c.295_297delinsTAG (p.Gly99Ter) c.187_189delinsTAG (p.Gly63Ter) c.298_300delinsTAG (p.Gly100Ter) c.178-11_178-9delinsTAG (n.178-11_178-9delinsTAG) c.188_190delinsTAG (p.Trp63_Leu64delinsLeuVal) n.2425_2427delinsTAG n.347_349delinsTAG n.221_223delinsTAG c.166-69_166-67delinsTAG (n.166-69_166-67delinsTAG) | |
14 | g.90404388_90404390delinsTCG | CA2579773500 | CALM1 | c.295_297delinsTCG (p.Gly99Ser) c.187_189delinsTCG (p.Gly63Ser) c.298_300delinsTCG (p.Gly100Ser) c.178-11_178-9delinsTCG (n.178-11_178-9delinsTCG) c.188_190delinsTCG (p.Trp63_Leu64delinsPheVal) n.2425_2427delinsTCG n.347_349delinsTCG n.221_223delinsTCG c.166-69_166-67delinsTCG (n.166-69_166-67delinsTCG) | |
14 | g.90404388_90404390delinsTGC | CA2579774201 | CALM1 | c.295_297delinsTGC (p.Gly99Cys) c.187_189delinsTGC (p.Gly63Cys) c.298_300delinsTGC (p.Gly100Cys) c.178-11_178-9delinsTGC (n.178-11_178-9delinsTGC) c.188_190delinsTGC (p.Trp63Leu) n.2425_2427delinsTGC n.347_349delinsTGC n.221_223delinsTGC c.166-69_166-67delinsTGC (n.166-69_166-67delinsTGC) | |
14 | g.90404388_90404390delinsTGG | CA2579773377 | CALM1 | c.295_297delinsTGG (p.Gly99Trp) c.187_189delinsTGG (p.Gly63Trp) c.298_300delinsTGG (p.Gly100Trp) c.178-11_178-9delinsTGG (n.178-11_178-9delinsTGG) c.188_190delinsTGG (p.Trp63_Leu64delinsLeuVal) n.2425_2427delinsTGG n.347_349delinsTGG n.221_223delinsTGG c.166-69_166-67delinsTGG (n.166-69_166-67delinsTGG) | |
14 | g.90404388_90404390delinsTTG | CA2579774181 | CALM1 | c.295_297delinsTTG (p.Gly99Leu) c.187_189delinsTTG (p.Gly63Leu) c.298_300delinsTTG (p.Gly100Leu) c.178-11_178-9delinsTTG (n.178-11_178-9delinsTTG) c.188_190delinsTTG (p.Trp63_Leu64delinsPheVal) n.2425_2427delinsTTG n.347_349delinsTTG n.221_223delinsTTG c.166-69_166-67delinsTTG (n.166-69_166-67delinsTTG) | |
14 | g.90404389G>A | CA390690122 | CALM1 | c.296G>A (p.Gly99Asp) c.188G>A (p.Gly63Asp) c.299G>A (p.Gly100Asp) c.178-10G>A (n.178-10G>A) c.189G>A (p.Trp63Ter) n.2426G>A n.348G>A n.222G>A c.166-68G>A (n.166-68G>A) | |
14 | g.90404389G>C | CA390690123 | CALM1 | c.296G>C (p.Gly99Ala) c.188G>C (p.Gly63Ala) c.299G>C (p.Gly100Ala) c.178-10G>C (n.178-10G>C) c.189G>C (p.Trp63Cys) n.2426G>C n.348G>C n.222G>C c.166-68G>C (n.166-68G>C) | |
14 | g.90404389G>T | CA390690124 | CALM1 | c.296G>T (p.Gly99Val) c.188G>T (p.Gly63Val) c.299G>T (p.Gly100Val) c.178-10G>T (n.178-10G>T) c.189G>T (p.Trp63Cys) n.2426G>T n.348G>T n.222G>T c.166-68G>T (n.166-68G>T) | |
14 | g.90404389_90404390delinsAA | CA2579769773 | CALM1 | c.296_297delinsAA (p.Gly99Glu) c.188_189delinsAA (p.Gly63Glu) c.299_300delinsAA (p.Gly100Glu) c.178-10_178-9delinsAA (n.178-10_178-9delinsAA) c.189_190delinsAA (p.Trp63Ter) n.2426_2427delinsAA n.348_349delinsAA n.222_223delinsAA c.166-68_166-67delinsAA (n.166-68_166-67delinsAA) | |
14 | g.90404389_90404390delinsAC | CA2579771587 | CALM1 | c.296_297delinsAC (p.Gly99Asp) c.188_189delinsAC (p.Gly63Asp) c.299_300delinsAC (p.Gly100Asp) c.178-10_178-9delinsAC (n.178-10_178-9delinsAC) c.189_190delinsAC (p.Trp63Ter) n.2426_2427delinsAC n.348_349delinsAC n.222_223delinsAC c.166-68_166-67delinsAC (n.166-68_166-67delinsAC) | |
14 | g.90404389_90404390delinsAG | CA2579773441 | CALM1 | c.296_297delinsAG (p.Gly99Glu) c.188_189delinsAG (p.Gly63Glu) c.299_300delinsAG (p.Gly100Glu) c.178-10_178-9delinsAG (n.178-10_178-9delinsAG) c.189_190delinsAG (p.Trp63Ter) n.2426_2427delinsAG n.348_349delinsAG n.222_223delinsAG c.166-68_166-67delinsAG (n.166-68_166-67delinsAG) | |
14 | g.90404389_90404390delinsCC | CA2579769788 | CALM1 | c.296_297delinsCC (p.Gly99Ala) c.188_189delinsCC (p.Gly63Ala) c.299_300delinsCC (p.Gly100Ala) c.178-10_178-9delinsCC (n.178-10_178-9delinsCC) c.189_190delinsCC (p.Trp63Cys) n.2426_2427delinsCC n.348_349delinsCC n.222_223delinsCC c.166-68_166-67delinsCC (n.166-68_166-67delinsCC) | |
14 | g.90404389_90404390delinsCG | CA2579771804 | CALM1 | c.296_297delinsCG (p.Gly99Ala) c.188_189delinsCG (p.Gly63Ala) c.299_300delinsCG (p.Gly100Ala) c.178-10_178-9delinsCG (n.178-10_178-9delinsCG) c.189_190delinsCG (p.Trp63_Leu64delinsCysVal) n.2426_2427delinsCG n.348_349delinsCG n.222_223delinsCG c.166-68_166-67delinsCG (n.166-68_166-67delinsCG) | |
14 | g.90404389_90404390delinsTA | CA2579770396 | CALM1 | c.296_297delinsTA (p.Gly99Val) c.188_189delinsTA (p.Gly63Val) c.299_300delinsTA (p.Gly100Val) c.178-10_178-9delinsTA (n.178-10_178-9delinsTA) c.189_190delinsTA (p.Trp63_Leu64delinsCysIle) n.2426_2427delinsTA n.348_349delinsTA n.222_223delinsTA c.166-68_166-67delinsTA (n.166-68_166-67delinsTA) | |
14 | g.90404389_90404390delinsTC | CA2579771390 | CALM1 | c.296_297delinsTC (p.Gly99Val) c.188_189delinsTC (p.Gly63Val) c.299_300delinsTC (p.Gly100Val) c.178-10_178-9delinsTC (n.178-10_178-9delinsTC) c.189_190delinsTC (p.Trp63Cys) n.2426_2427delinsTC n.348_349delinsTC n.222_223delinsTC c.166-68_166-67delinsTC (n.166-68_166-67delinsTC) | |
14 | g.90404389_90404390delinsTG | CA2579772892 | CALM1 | c.296_297delinsTG (p.Gly99Val) c.188_189delinsTG (p.Gly63Val) c.299_300delinsTG (p.Gly100Val) c.178-10_178-9delinsTG (n.178-10_178-9delinsTG) c.189_190delinsTG (p.Trp63_Leu64delinsCysVal) n.2426_2427delinsTG n.348_349delinsTG n.222_223delinsTG c.166-68_166-67delinsTG (n.166-68_166-67delinsTG) | |
14 | g.90404390T>A | CA487760026 | CALM1 | c.297T>A (p.Gly99=) c.189T>A (p.Gly63=) c.300T>A (p.Gly100=) c.178-9T>A (n.178-9T>A) c.190T>A (p.Leu64Ile) n.2427T>A n.349T>A n.223T>A c.166-67T>A (n.166-67T>A) | |
14 | g.90404390T>C | CA487760028 | CALM1 | c.297T>C (p.Gly99=) c.189T>C (p.Gly63=) c.300T>C (p.Gly100=) c.178-9T>C (n.178-9T>C) c.190T>C (p.Leu64=) n.2427T>C n.349T>C n.223T>C c.166-67T>C (n.166-67T>C) | |
14 | g.90404390T>G | CA487760030 | CALM1 | c.297T>G (p.Gly99=) c.189T>G (p.Gly63=) c.300T>G (p.Gly100=) c.178-9T>G (n.178-9T>G) c.190T>G (p.Leu64Val) n.2427T>G n.349T>G n.223T>G c.166-67T>G (n.166-67T>G) | |
14 | g.90404391T>A | CA390690125 | CALM1 | c.298T>A (p.Tyr100Asn) c.190T>A (p.Tyr64Asn) c.301T>A (p.Tyr101Asn) c.178-8T>A (n.178-8T>A) c.191T>A (p.Leu64Ter) n.2428T>A n.350T>A n.224T>A c.166-66T>A (n.166-66T>A) | |
14 | g.90404391T>C | CA390690126 | CALM1 | c.298T>C (p.Tyr100His) c.190T>C (p.Tyr64His) c.301T>C (p.Tyr101His) c.178-8T>C (n.178-8T>C) c.191T>C (p.Leu64Ser) n.2428T>C n.350T>C n.224T>C c.166-66T>C (n.166-66T>C) | COSMIC |
14 | g.90404391T>G | CA390690127 | CALM1 | c.298T>G (p.Tyr100Asp) c.190T>G (p.Tyr64Asp) c.301T>G (p.Tyr101Asp) c.178-8T>G (n.178-8T>G) c.191T>G (p.Leu64Ter) n.2428T>G n.350T>G n.224T>G c.166-66T>G (n.166-66T>G) | |
14 | g.90404391_90404392delinsAC | CA2579772973 | CALM1 | c.298_299delinsAC (p.Tyr100Thr) c.190_191delinsAC (p.Tyr64Thr) c.301_302delinsAC (p.Tyr101Thr) c.178-8_178-7delinsAC (n.178-8_178-7delinsAC) c.191_192delinsAC (p.Leu64Tyr) n.2428_2429delinsAC n.350_351delinsAC n.224_225delinsAC c.166-66_166-65delinsAC (n.166-66_166-65delinsAC) | |
14 | g.90404391_90404392delinsAG | CA2579773996 | CALM1 | c.298_299delinsAG (p.Tyr100Ser) c.190_191delinsAG (p.Tyr64Ser) c.301_302delinsAG (p.Tyr101Ser) c.178-8_178-7delinsAG (n.178-8_178-7delinsAG) c.191_192delinsAG (p.Leu64Ter) n.2428_2429delinsAG n.350_351delinsAG n.224_225delinsAG c.166-66_166-65delinsAG (n.166-66_166-65delinsAG) | |
14 | g.90404391_90404392delinsAT | CA2579774095 | CALM1 | c.298_299delinsAT (p.Tyr100Ile) c.190_191delinsAT (p.Tyr64Ile) c.301_302delinsAT (p.Tyr101Ile) c.178-8_178-7delinsAT (n.178-8_178-7delinsAT) c.191_192delinsAT (p.Leu64Tyr) n.2428_2429delinsAT n.350_351delinsAT n.224_225delinsAT c.166-66_166-65delinsAT (n.166-66_166-65delinsAT) | |
14 | g.90404391_90404392delinsCC | CA2579771351 | CALM1 | c.298_299delinsCC (p.Tyr100Pro) c.190_191delinsCC (p.Tyr64Pro) c.301_302delinsCC (p.Tyr101Pro) c.178-8_178-7delinsCC (n.178-8_178-7delinsCC) c.191_192delinsCC (p.Leu64Ser) n.2428_2429delinsCC n.350_351delinsCC n.224_225delinsCC c.166-66_166-65delinsCC (n.166-66_166-65delinsCC) | |
14 | g.90404391_90404392delinsCG | CA2579771873 | CALM1 | c.298_299delinsCG (p.Tyr100Arg) c.190_191delinsCG (p.Tyr64Arg) c.301_302delinsCG (p.Tyr101Arg) c.178-8_178-7delinsCG (n.178-8_178-7delinsCG) c.191_192delinsCG (p.Leu64Ser) n.2428_2429delinsCG n.350_351delinsCG n.224_225delinsCG c.166-66_166-65delinsCG (n.166-66_166-65delinsCG) | |
14 | g.90404391_90404392delinsCT | CA2579771246 | CALM1 | c.298_299delinsCT (p.Tyr100Leu) c.190_191delinsCT (p.Tyr64Leu) c.301_302delinsCT (p.Tyr101Leu) c.178-8_178-7delinsCT (n.178-8_178-7delinsCT) c.191_192delinsCT (p.Leu64Ser) n.2428_2429delinsCT n.350_351delinsCT n.224_225delinsCT c.166-66_166-65delinsCT (n.166-66_166-65delinsCT) | |
14 | g.90404391_90404392delinsGC | CA2579773976 | CALM1 | c.298_299delinsGC (p.Tyr100Ala) c.190_191delinsGC (p.Tyr64Ala) c.301_302delinsGC (p.Tyr101Ala) c.178-8_178-7delinsGC (n.178-8_178-7delinsGC) c.191_192delinsGC (p.Leu64Cys) n.2428_2429delinsGC n.350_351delinsGC n.224_225delinsGC c.166-66_166-65delinsGC (n.166-66_166-65delinsGC) | |
14 | g.90404391_90404392delinsGG | CA2579770455 | CALM1 | c.298_299delinsGG (p.Tyr100Gly) c.190_191delinsGG (p.Tyr64Gly) c.301_302delinsGG (p.Tyr101Gly) c.178-8_178-7delinsGG (n.178-8_178-7delinsGG) c.191_192delinsGG (p.Leu64Trp) n.2428_2429delinsGG n.350_351delinsGG n.224_225delinsGG c.166-66_166-65delinsGG (n.166-66_166-65delinsGG) | |
14 | g.90404391_90404392delinsGT | CA2579770881 | CALM1 | c.298_299delinsGT (p.Tyr100Val) c.190_191delinsGT (p.Tyr64Val) c.301_302delinsGT (p.Tyr101Val) c.178-8_178-7delinsGT (n.178-8_178-7delinsGT) c.191_192delinsGT (p.Leu64Cys) n.2428_2429delinsGT n.350_351delinsGT n.224_225delinsGT c.166-66_166-65delinsGT (n.166-66_166-65delinsGT) | |
14 | g.90404391_90404393delinsAAA | CA2579772399 | CALM1 | c.298_300delinsAAA (p.Tyr100Lys) c.190_192delinsAAA (p.Tyr64Lys) c.301_303delinsAAA (p.Tyr101Lys) c.178-8_178-6delinsAAA (n.178-8_178-6delinsAAA) c.191_193delinsAAA (p.Leu64Ter) n.2428_2430delinsAAA n.350_352delinsAAA n.224_226delinsAAA c.166-66_166-64delinsAAA (n.166-66_166-64delinsAAA) | |
14 | g.90404391_90404393delinsAAG | CA2579772869 | CALM1 | c.298_300delinsAAG (p.Tyr100Lys) c.190_192delinsAAG (p.Tyr64Lys) c.301_303delinsAAG (p.Tyr101Lys) c.178-8_178-6delinsAAG (n.178-8_178-6delinsAAG) c.191_193delinsAAG (p.Leu64Ter) n.2428_2430delinsAAG n.350_352delinsAAG n.224_226delinsAAG c.166-66_166-64delinsAAG (n.166-66_166-64delinsAAG) | |
14 | g.90404391_90404393delinsACC | CA2579772349 | CALM1 | c.298_300delinsACC (p.Tyr100Thr) c.190_192delinsACC (p.Tyr64Thr) c.301_303delinsACC (p.Tyr101Thr) c.178-8_178-6delinsACC (n.178-8_178-6delinsACC) c.191_193delinsACC (p.Leu64_Tyr65delinsTyrHis) n.2428_2430delinsACC n.350_352delinsACC n.224_226delinsACC c.166-66_166-64delinsACC (n.166-66_166-64delinsACC) | |
14 | g.90404391_90404393delinsACG | CA2579770336 | CALM1 | c.298_300delinsACG (p.Tyr100Thr) c.190_192delinsACG (p.Tyr64Thr) c.301_303delinsACG (p.Tyr101Thr) c.178-8_178-6delinsACG (n.178-8_178-6delinsACG) c.191_193delinsACG (p.Leu64_Tyr65delinsTyrAsp) n.2428_2430delinsACG n.350_352delinsACG n.224_226delinsACG c.166-66_166-64delinsACG (n.166-66_166-64delinsACG) | |
14 | g.90404391_90404393delinsAGG | CA2579770630 | CALM1 | c.298_300delinsAGG (p.Tyr100Arg) c.190_192delinsAGG (p.Tyr64Arg) c.301_303delinsAGG (p.Tyr101Arg) c.178-8_178-6delinsAGG (n.178-8_178-6delinsAGG) c.191_193delinsAGG (p.Leu64Ter) n.2428_2430delinsAGG n.350_352delinsAGG n.224_226delinsAGG c.166-66_166-64delinsAGG (n.166-66_166-64delinsAGG) | |
14 | g.90404391_90404393delinsCAA | CA2579771843 | CALM1 | c.298_300delinsCAA (p.Tyr100Gln) c.190_192delinsCAA (p.Tyr64Gln) c.301_303delinsCAA (p.Tyr101Gln) c.178-8_178-6delinsCAA (n.178-8_178-6delinsCAA) c.191_193delinsCAA (p.Leu64_Tyr65delinsSerAsn) n.2428_2430delinsCAA n.350_352delinsCAA n.224_226delinsCAA c.166-66_166-64delinsCAA (n.166-66_166-64delinsCAA) | |
14 | g.90404391_90404393delinsCAC | CA2579774195 | CALM1 | c.298_300delinsCAC (p.Tyr100His) c.190_192delinsCAC (p.Tyr64His) c.301_303delinsCAC (p.Tyr101His) c.178-8_178-6delinsCAC (n.178-8_178-6delinsCAC) c.191_193delinsCAC (p.Leu64_Tyr65delinsSerHis) n.2428_2430delinsCAC n.350_352delinsCAC n.224_226delinsCAC c.166-66_166-64delinsCAC (n.166-66_166-64delinsCAC) | |
14 | g.90404391_90404393delinsCAG | CA2579772204 | CALM1 | c.298_300delinsCAG (p.Tyr100Gln) c.190_192delinsCAG (p.Tyr64Gln) c.301_303delinsCAG (p.Tyr101Gln) c.178-8_178-6delinsCAG (n.178-8_178-6delinsCAG) c.191_193delinsCAG (p.Leu64_Tyr65delinsSerAsp) n.2428_2430delinsCAG n.350_352delinsCAG n.224_226delinsCAG c.166-66_166-64delinsCAG (n.166-66_166-64delinsCAG) | |
14 | g.90404391_90404393delinsGAG | CA2579774131 | CALM1 | c.298_300delinsGAG (p.Tyr100Glu) c.190_192delinsGAG (p.Tyr64Glu) c.301_303delinsGAG (p.Tyr101Glu) c.178-8_178-6delinsGAG (n.178-8_178-6delinsGAG) c.191_193delinsGAG (p.Leu64Ter) n.2428_2430delinsGAG n.350_352delinsGAG n.224_226delinsGAG c.166-66_166-64delinsGAG (n.166-66_166-64delinsGAG) | |
14 | g.90404391_90404393delinsGCG | CA2579772787 | CALM1 | c.298_300delinsGCG (p.Tyr100Ala) c.190_192delinsGCG (p.Tyr64Ala) c.301_303delinsGCG (p.Tyr101Ala) c.178-8_178-6delinsGCG (n.178-8_178-6delinsGCG) c.191_193delinsGCG (p.Leu64_Tyr65delinsCysAsp) n.2428_2430delinsGCG n.350_352delinsGCG n.224_226delinsGCG c.166-66_166-64delinsGCG (n.166-66_166-64delinsGCG) | |
14 | g.90404391_90404393delinsGTG | CA2579770855 | CALM1 | c.298_300delinsGTG (p.Tyr100Val) c.190_192delinsGTG (p.Tyr64Val) c.301_303delinsGTG (p.Tyr101Val) c.178-8_178-6delinsGTG (n.178-8_178-6delinsGTG) c.191_193delinsGTG (p.Leu64_Tyr65delinsCysAsp) n.2428_2430delinsGTG n.350_352delinsGTG n.224_226delinsGTG c.166-66_166-64delinsGTG (n.166-66_166-64delinsGTG) | |
14 | g.90404392A>C | CA390690128 | CALM1 | c.299A>C (p.Tyr100Ser) c.191A>C (p.Tyr64Ser) c.302A>C (p.Tyr101Ser) c.178-7A>C (n.178-7A>C) c.192A>C (p.Leu64Phe) n.2429A>C n.351A>C n.225A>C c.166-65A>C (n.166-65A>C) | |
14 | g.90404392A>G | CA390690129 | CALM1 | c.299A>G (p.Tyr100Cys) c.191A>G (p.Tyr64Cys) c.302A>G (p.Tyr101Cys) c.178-7A>G (n.178-7A>G) c.192A>G (p.Leu64=) n.2429A>G n.351A>G n.225A>G c.166-65A>G (n.166-65A>G) | ClinVar gnomAD v4 |
14 | g.90404392A>T | CA390690130 | CALM1 | c.299A>T (p.Tyr100Phe) c.191A>T (p.Tyr64Phe) c.302A>T (p.Tyr101Phe) c.178-7A>T (n.178-7A>T) c.192A>T (p.Leu64Phe) n.2429A>T n.351A>T n.225A>T c.166-65A>T (n.166-65A>T) | |
14 | g.90404392_90404393delinsCG | CA2579771728 | CALM1 | c.299_300delinsCG (p.Tyr100Ser) c.191_192delinsCG (p.Tyr64Ser) c.302_303delinsCG (p.Tyr101Ser) c.178-7_178-6delinsCG (n.178-7_178-6delinsCG) c.192_193delinsCG (p.Leu64_Tyr65delinsPheAsp) n.2429_2430delinsCG n.351_352delinsCG n.225_226delinsCG c.166-65_166-64delinsCG (n.166-65_166-64delinsCG) | |
14 | g.90404392_90404393delinsGA | CA2579772930 | CALM1 | c.299_300delinsGA (p.Tyr100Ter) c.191_192delinsGA (p.Tyr64Ter) c.302_303delinsGA (p.Tyr101Ter) c.178-7_178-6delinsGA (n.178-7_178-6delinsGA) c.192_193delinsGA (p.Tyr65Asn) n.2429_2430delinsGA n.351_352delinsGA n.225_226delinsGA c.166-65_166-64delinsGA (n.166-65_166-64delinsGA) | |
14 | g.90404392_90404393delinsGC | CA2579772381 | CALM1 | c.299_300delinsGC (p.Tyr100Cys) c.191_192delinsGC (p.Tyr64Cys) c.302_303delinsGC (p.Tyr101Cys) c.178-7_178-6delinsGC (n.178-7_178-6delinsGC) c.192_193delinsGC (p.Tyr65His) n.2429_2430delinsGC n.351_352delinsGC n.225_226delinsGC c.166-65_166-64delinsGC (n.166-65_166-64delinsGC) | |
14 | g.90404392_90404393delinsGG | CA2579772532 | CALM1 | c.299_300delinsGG (p.Tyr100Trp) c.191_192delinsGG (p.Tyr64Trp) c.302_303delinsGG (p.Tyr101Trp) c.178-7_178-6delinsGG (n.178-7_178-6delinsGG) c.192_193delinsGG (p.Tyr65Asp) n.2429_2430delinsGG n.351_352delinsGG n.225_226delinsGG c.166-65_166-64delinsGG (n.166-65_166-64delinsGG) | |
14 | g.90404392_90404393delinsTC | CA2579773433 | CALM1 | c.299_300delinsTC (p.Tyr100Phe) c.191_192delinsTC (p.Tyr64Phe) c.302_303delinsTC (p.Tyr101Phe) c.178-7_178-6delinsTC (n.178-7_178-6delinsTC) c.192_193delinsTC (p.Leu64_Tyr65delinsPheHis) n.2429_2430delinsTC n.351_352delinsTC n.225_226delinsTC c.166-65_166-64delinsTC (n.166-65_166-64delinsTC) | |
14 | g.90404392_90404393delinsTG | CA2579770817 | CALM1 | c.299_300delinsTG (p.Tyr100Leu) c.191_192delinsTG (p.Tyr64Leu) c.302_303delinsTG (p.Tyr101Leu) c.178-7_178-6delinsTG (n.178-7_178-6delinsTG) c.192_193delinsTG (p.Leu64_Tyr65delinsPheAsp) n.2429_2430delinsTG n.351_352delinsTG n.225_226delinsTG c.166-65_166-64delinsTG (n.166-65_166-64delinsTG) | |
14 | g.90404393T>A | CA390690131 | CALM1 | c.300T>A (p.Tyr100Ter) c.192T>A (p.Tyr64Ter) c.303T>A (p.Tyr101Ter) c.178-6T>A (n.178-6T>A) c.193T>A (p.Tyr65Asn) n.2430T>A n.352T>A n.226T>A c.166-64T>A (n.166-64T>A) | |
14 | g.90404393T>C | CA264948487 | CALM1 | c.300T>C (p.Tyr100=) c.192T>C (p.Tyr64=) c.303T>C (p.Tyr101=) c.178-6T>C (n.178-6T>C) c.193T>C (p.Tyr65His) n.2430T>C n.352T>C n.226T>C c.166-64T>C (n.166-64T>C) | dbSNP |
14 | g.90404393T>G | CA390690132 | CALM1 | c.300T>G (p.Tyr100Ter) c.192T>G (p.Tyr64Ter) c.303T>G (p.Tyr101Ter) c.178-6T>G (n.178-6T>G) c.193T>G (p.Tyr65Asp) n.2430T>G n.352T>G n.226T>G c.166-64T>G (n.166-64T>G) | |
14 | g.90404393T= | CA2154484063 | CALM1 | c.300T= (p.Tyr100=) c.192T= (p.Tyr64=) c.303T= (p.Tyr101=) c.178-6T= (n.178-6T=) c.193T= (p.Tyr65=) n.2430T= n.352T= n.226T= c.166-64T= (n.166-64T=) | |
14 | g.90404394A= | CA2154484068 | CALM1 | c.301A= (p.Ile101=) c.193A= (p.Ile65=) c.304A= (p.Ile102=) c.178-5A= (n.178-5A=) c.194A= (p.Tyr65=) n.2431A= n.353A= n.227A= c.166-63A= (n.166-63A=) | |
14 | g.90404394A>C | CA390690133 | CALM1 | c.301A>C (p.Ile101Leu) c.193A>C (p.Ile65Leu) c.304A>C (p.Ile102Leu) c.178-5A>C (n.178-5A>C) c.194A>C (p.Tyr65Ser) n.2431A>C n.353A>C n.227A>C c.166-63A>C (n.166-63A>C) | |
14 | g.90404394A>G | CA390690134 | CALM1 | c.301A>G (p.Ile101Val) c.193A>G (p.Ile65Val) c.304A>G (p.Ile102Val) c.178-5A>G (n.178-5A>G) c.194A>G (p.Tyr65Cys) n.2431A>G n.353A>G n.227A>G c.166-63A>G (n.166-63A>G) | ClinVar dbSNP |
14 | g.90404394A>T | CA390690135 | CALM1 | c.301A>T (p.Ile101Phe) c.193A>T (p.Ile65Phe) c.304A>T (p.Ile102Phe) c.178-5A>T (n.178-5A>T) c.194A>T (p.Tyr65Phe) n.2431A>T n.353A>T n.227A>T c.166-63A>T (n.166-63A>T) | |
14 | g.90404394_90404395delinsCA | CA2579772268 | CALM1 | c.301_302delinsCA (p.Ile101His) c.193_194delinsCA (p.Ile65His) c.304_305delinsCA (p.Ile102His) c.178-5_178-4delinsCA (n.178-5_178-4delinsCA) c.194_195delinsCA (p.Tyr65Ser) n.2431_2432delinsCA n.353_354delinsCA n.227_228delinsCA c.166-63_166-62delinsCA (n.166-63_166-62delinsCA) | |
14 | g.90404394_90404395delinsCC | CA2579772849 | CALM1 | c.301_302delinsCC (p.Ile101Pro) c.193_194delinsCC (p.Ile65Pro) c.304_305delinsCC (p.Ile102Pro) c.178-5_178-4delinsCC (n.178-5_178-4delinsCC) c.194_195delinsCC (p.Tyr65Ser) n.2431_2432delinsCC n.353_354delinsCC n.227_228delinsCC c.166-63_166-62delinsCC (n.166-63_166-62delinsCC) | |
14 | g.90404394_90404395delinsCG | CA2579772340 | CALM1 | c.301_302delinsCG (p.Ile101Arg) c.193_194delinsCG (p.Ile65Arg) c.304_305delinsCG (p.Ile102Arg) c.178-5_178-4delinsCG (n.178-5_178-4delinsCG) c.194_195delinsCG (p.Tyr65Ser) n.2431_2432delinsCG n.353_354delinsCG n.227_228delinsCG c.166-63_166-62delinsCG (n.166-63_166-62delinsCG) | |
14 | g.90404394_90404395delinsGA | CA2579769942 | CALM1 | c.301_302delinsGA (p.Ile101Asp) c.193_194delinsGA (p.Ile65Asp) c.304_305delinsGA (p.Ile102Asp) c.178-5_178-4delinsGA (n.178-5_178-4delinsGA) c.194_195delinsGA (p.Tyr65Ter) n.2431_2432delinsGA n.353_354delinsGA n.227_228delinsGA c.166-63_166-62delinsGA (n.166-63_166-62delinsGA) | |
14 | g.90404394_90404395delinsGC | CA2579772492 | CALM1 | c.301_302delinsGC (p.Ile101Ala) c.193_194delinsGC (p.Ile65Ala) c.304_305delinsGC (p.Ile102Ala) c.178-5_178-4delinsGC (n.178-5_178-4delinsGC) c.194_195delinsGC (p.Tyr65Cys) n.2431_2432delinsGC n.353_354delinsGC n.227_228delinsGC c.166-63_166-62delinsGC (n.166-63_166-62delinsGC) | |
14 | g.90404394_90404395delinsGG | CA2579772914 | CALM1 | c.301_302delinsGG (p.Ile101Gly) c.193_194delinsGG (p.Ile65Gly) c.304_305delinsGG (p.Ile102Gly) c.178-5_178-4delinsGG (n.178-5_178-4delinsGG) c.194_195delinsGG (p.Tyr65Trp) n.2431_2432delinsGG n.353_354delinsGG n.227_228delinsGG c.166-63_166-62delinsGG (n.166-63_166-62delinsGG) | |
14 | g.90404394_90404395delinsTC | CA2579770125 | CALM1 | c.301_302delinsTC (p.Ile101Ser) c.193_194delinsTC (p.Ile65Ser) c.304_305delinsTC (p.Ile102Ser) c.178-5_178-4delinsTC (n.178-5_178-4delinsTC) c.194_195delinsTC (p.Tyr65Phe) n.2431_2432delinsTC n.353_354delinsTC n.227_228delinsTC c.166-63_166-62delinsTC (n.166-63_166-62delinsTC) | |
14 | g.90404394_90404395delinsTG | CA2579770129 | CALM1 | c.301_302delinsTG (p.Ile101Cys) c.193_194delinsTG (p.Ile65Cys) c.304_305delinsTG (p.Ile102Cys) c.178-5_178-4delinsTG (n.178-5_178-4delinsTG) c.194_195delinsTG (p.Tyr65Leu) n.2431_2432delinsTG n.353_354delinsTG n.227_228delinsTG c.166-63_166-62delinsTG (n.166-63_166-62delinsTG) | |
14 | g.90404394_90404396delinsCAG | CA2579772713 | CALM1 | c.301_303delinsCAG (p.Ile101Gln) c.193_195delinsCAG (p.Ile65Gln) c.304_306delinsCAG (p.Ile102Gln) c.178-5_178-3delinsCAG (n.178-5_178-3delinsCAG) c.194_196delinsCAG (p.Tyr65_Gln66delinsSerGlu) n.2431_2433delinsCAG n.353_355delinsCAG n.227_229delinsCAG c.166-63_166-61delinsCAG (n.166-63_166-61delinsCAG) | |
14 | g.90404394_90404396delinsCCG | CA2579773365 | CALM1 | c.301_303delinsCCG (p.Ile101Pro) c.193_195delinsCCG (p.Ile65Pro) c.304_306delinsCCG (p.Ile102Pro) c.178-5_178-3delinsCCG (n.178-5_178-3delinsCCG) c.194_196delinsCCG (p.Tyr65_Gln66delinsSerGlu) n.2431_2433delinsCCG n.353_355delinsCCG n.227_229delinsCCG c.166-63_166-61delinsCCG (n.166-63_166-61delinsCCG) | |
14 | g.90404394_90404396delinsCCT | CA2579771304 | CALM1 | c.301_303delinsCCT (p.Ile101Pro) c.193_195delinsCCT (p.Ile65Pro) c.304_306delinsCCT (p.Ile102Pro) c.178-5_178-3delinsCCT (n.178-5_178-3delinsCCT) c.194_196delinsCCT (p.Tyr65SerfsTer2) n.2431_2433delinsCCT n.353_355delinsCCT n.227_229delinsCCT c.166-63_166-61delinsCCT (n.166-63_166-61delinsCCT) | |
14 | g.90404394_90404396delinsCGG | CA2579771754 | CALM1 | c.301_303delinsCGG (p.Ile101Arg) c.193_195delinsCGG (p.Ile65Arg) c.304_306delinsCGG (p.Ile102Arg) c.178-5_178-3delinsCGG (n.178-5_178-3delinsCGG) c.194_196delinsCGG (p.Tyr65_Gln66delinsSerGlu) n.2431_2433delinsCGG n.353_355delinsCGG n.227_229delinsCGG c.166-63_166-61delinsCGG (n.166-63_166-61delinsCGG) | |
14 | g.90404394_90404396delinsCGT | CA2579772414 | CALM1 | c.301_303delinsCGT (p.Ile101Arg) c.193_195delinsCGT (p.Ile65Arg) c.304_306delinsCGT (p.Ile102Arg) c.178-5_178-3delinsCGT (n.178-5_178-3delinsCGT) c.194_196delinsCGT (p.Tyr65SerfsTer2) n.2431_2433delinsCGT n.353_355delinsCGT n.227_229delinsCGT c.166-63_166-61delinsCGT (n.166-63_166-61delinsCGT) | |
14 | g.90404394_90404396delinsCTA | CA2579771359 | CALM1 | c.301_303delinsCTA (p.Ile101Leu) c.193_195delinsCTA (p.Ile65Leu) c.304_306delinsCTA (p.Ile102Leu) c.178-5_178-3delinsCTA (n.178-5_178-3delinsCTA) c.194_196delinsCTA (p.Tyr65_Gln66delinsSerLys) n.2431_2433delinsCTA n.353_355delinsCTA n.227_229delinsCTA c.166-63_166-61delinsCTA (n.166-63_166-61delinsCTA) | |
14 | g.90404394_90404396delinsCTG | CA2579770075 | CALM1 | c.301_303delinsCTG (p.Ile101Leu) c.193_195delinsCTG (p.Ile65Leu) c.304_306delinsCTG (p.Ile102Leu) c.178-5_178-3delinsCTG (n.178-5_178-3delinsCTG) c.194_196delinsCTG (p.Tyr65_Gln66delinsSerGlu) n.2431_2433delinsCTG n.353_355delinsCTG n.227_229delinsCTG c.166-63_166-61delinsCTG (n.166-63_166-61delinsCTG) | |
14 | g.90404394_90404396delinsCTT | CA2579771846 | CALM1 | c.301_303delinsCTT (p.Ile101Leu) c.193_195delinsCTT (p.Ile65Leu) c.304_306delinsCTT (p.Ile102Leu) c.178-5_178-3delinsCTT (n.178-5_178-3delinsCTT) c.194_196delinsCTT (p.Tyr65SerfsTer2) n.2431_2433delinsCTT n.353_355delinsCTT n.227_229delinsCTT c.166-63_166-61delinsCTT (n.166-63_166-61delinsCTT) | |
14 | g.90404394_90404396delinsGCG | CA2579770482 | CALM1 | c.301_303delinsGCG (p.Ile101Ala) c.193_195delinsGCG (p.Ile65Ala) c.304_306delinsGCG (p.Ile102Ala) c.178-5_178-3delinsGCG (n.178-5_178-3delinsGCG) c.194_196delinsGCG (p.Tyr65_Gln66delinsCysGlu) n.2431_2433delinsGCG n.353_355delinsGCG n.227_229delinsGCG c.166-63_166-61delinsGCG (n.166-63_166-61delinsGCG) | |
14 | g.90404394_90404396delinsGCT | CA2579771412 | CALM1 | c.301_303delinsGCT (p.Ile101Ala) c.193_195delinsGCT (p.Ile65Ala) c.304_306delinsGCT (p.Ile102Ala) c.178-5_178-3delinsGCT (n.178-5_178-3delinsGCT) c.194_196delinsGCT (p.Tyr65CysfsTer2) n.2431_2433delinsGCT n.353_355delinsGCT n.227_229delinsGCT c.166-63_166-61delinsGCT (n.166-63_166-61delinsGCT) | |
14 | g.90404394_90404396delinsGGT | CA2579774109 | CALM1 | c.301_303delinsGGT (p.Ile101Gly) c.193_195delinsGGT (p.Ile65Gly) c.304_306delinsGGT (p.Ile102Gly) c.178-5_178-3delinsGGT (n.178-5_178-3delinsGGT) c.194_196delinsGGT (p.Tyr65TrpfsTer2) n.2431_2433delinsGGT n.353_355delinsGGT n.227_229delinsGGT c.166-63_166-61delinsGGT (n.166-63_166-61delinsGGT) | |
14 | g.90404394_90404396delinsGTA | CA2579769728 | CALM1 | c.301_303delinsGTA (p.Ile101Val) c.193_195delinsGTA (p.Ile65Val) c.304_306delinsGTA (p.Ile102Val) c.178-5_178-3delinsGTA (n.178-5_178-3delinsGTA) c.194_196delinsGTA (p.Tyr65_Gln66delinsCysLys) n.2431_2433delinsGTA n.353_355delinsGTA n.227_229delinsGTA c.166-63_166-61delinsGTA (n.166-63_166-61delinsGTA) | |
14 | g.90404394_90404396delinsGTG | CA2579770791 | CALM1 | c.301_303delinsGTG (p.Ile101Val) c.193_195delinsGTG (p.Ile65Val) c.304_306delinsGTG (p.Ile102Val) c.178-5_178-3delinsGTG (n.178-5_178-3delinsGTG) c.194_196delinsGTG (p.Tyr65_Gln66delinsCysGlu) n.2431_2433delinsGTG n.353_355delinsGTG n.227_229delinsGTG c.166-63_166-61delinsGTG (n.166-63_166-61delinsGTG) | |
14 | g.90404394_90404396delinsGTT | CA2579772007 | CALM1 | c.301_303delinsGTT (p.Ile101Val) c.193_195delinsGTT (p.Ile65Val) c.304_306delinsGTT (p.Ile102Val) c.178-5_178-3delinsGTT (n.178-5_178-3delinsGTT) c.194_196delinsGTT (p.Tyr65CysfsTer2) n.2431_2433delinsGTT n.353_355delinsGTT n.227_229delinsGTT c.166-63_166-61delinsGTT (n.166-63_166-61delinsGTT) | |
14 | g.90404394_90404396delinsTAG | CA2579770357 | CALM1 | c.301_303delinsTAG (p.Ile101Ter) c.193_195delinsTAG (p.Ile65Ter) c.304_306delinsTAG (p.Ile102Ter) c.178-5_178-3delinsTAG (n.178-5_178-3delinsTAG) c.194_196delinsTAG (p.Tyr65_Gln66delinsLeuGlu) n.2431_2433delinsTAG n.353_355delinsTAG n.227_229delinsTAG c.166-63_166-61delinsTAG (n.166-63_166-61delinsTAG) | |
14 | g.90404394_90404396delinsTGG | CA2579771195 | CALM1 | c.301_303delinsTGG (p.Ile101Trp) c.193_195delinsTGG (p.Ile65Trp) c.304_306delinsTGG (p.Ile102Trp) c.178-5_178-3delinsTGG (n.178-5_178-3delinsTGG) c.194_196delinsTGG (p.Tyr65_Gln66delinsLeuGlu) n.2431_2433delinsTGG n.353_355delinsTGG n.227_229delinsTGG c.166-63_166-61delinsTGG (n.166-63_166-61delinsTGG) | |
14 | g.90404394_90404396delinsTGT | CA2579774054 | CALM1 | c.301_303delinsTGT (p.Ile101Cys) c.193_195delinsTGT (p.Ile65Cys) c.304_306delinsTGT (p.Ile102Cys) c.178-5_178-3delinsTGT (n.178-5_178-3delinsTGT) c.194_196delinsTGT (p.Tyr65LeufsTer2) n.2431_2433delinsTGT n.353_355delinsTGT n.227_229delinsTGT c.166-63_166-61delinsTGT (n.166-63_166-61delinsTGT) | |
14 | g.90404394_90404396delinsTTA | CA2579774217 | CALM1 | c.301_303delinsTTA (p.Ile101Leu) c.193_195delinsTTA (p.Ile65Leu) c.304_306delinsTTA (p.Ile102Leu) c.178-5_178-3delinsTTA (n.178-5_178-3delinsTTA) c.194_196delinsTTA (p.Tyr65_Gln66delinsPheLys) n.2431_2433delinsTTA n.353_355delinsTTA n.227_229delinsTTA c.166-63_166-61delinsTTA (n.166-63_166-61delinsTTA) | |
14 | g.90404394_90404396delinsTTG | CA2579774221 | CALM1 | c.301_303delinsTTG (p.Ile101Leu) c.193_195delinsTTG (p.Ile65Leu) c.304_306delinsTTG (p.Ile102Leu) c.178-5_178-3delinsTTG (n.178-5_178-3delinsTTG) c.194_196delinsTTG (p.Tyr65_Gln66delinsPheGlu) n.2431_2433delinsTTG n.353_355delinsTTG n.227_229delinsTTG c.166-63_166-61delinsTTG (n.166-63_166-61delinsTTG) | |
14 | g.90404394_90404396delinsTTT | CA2579771443 | CALM1 | c.301_303delinsTTT (p.Ile101Phe) c.193_195delinsTTT (p.Ile65Phe) c.304_306delinsTTT (p.Ile102Phe) c.178-5_178-3delinsTTT (n.178-5_178-3delinsTTT) c.194_196delinsTTT (p.Tyr65PhefsTer2) n.2431_2433delinsTTT n.353_355delinsTTT n.227_229delinsTTT c.166-63_166-61delinsTTT (n.166-63_166-61delinsTTT) | |
14 | g.90404395T>A | CA390690136 | CALM1 | c.302T>A (p.Ile101Asn) c.194T>A (p.Ile65Asn) c.305T>A (p.Ile102Asn) c.178-4T>A (n.178-4T>A) c.195T>A (p.Tyr65Ter) n.2432T>A n.354T>A n.228T>A c.166-62T>A (n.166-62T>A) | |
14 | g.90404395T>C | CA390690137 | CALM1 | c.302T>C (p.Ile101Thr) c.194T>C (p.Ile65Thr) c.305T>C (p.Ile102Thr) c.178-4T>C (n.178-4T>C) c.195T>C (p.Tyr65=) n.2432T>C n.354T>C n.228T>C c.166-62T>C (n.166-62T>C) | |
14 | g.90404395T>G | CA390690138 | CALM1 | c.302T>G (p.Ile101Ser) c.194T>G (p.Ile65Ser) c.305T>G (p.Ile102Ser) c.178-4T>G (n.178-4T>G) c.195T>G (p.Tyr65Ter) n.2432T>G n.354T>G n.228T>G c.166-62T>G (n.166-62T>G) | |
14 | g.90404395_90404396delinsAG | CA2579771689 | CALM1 | c.302_303delinsAG (p.Ile101Lys) c.194_195delinsAG (p.Ile65Lys) c.305_306delinsAG (p.Ile102Lys) c.178-4_178-3delinsAG (n.178-4_178-3delinsAG) c.195_196delinsAG (p.Tyr65Ter) n.2432_2433delinsAG n.354_355delinsAG n.228_229delinsAG c.166-62_166-61delinsAG (n.166-62_166-61delinsAG) | |
14 | g.90404395_90404396delinsAT | CA2579772411 | CALM1 | c.302_303delinsAT (p.Ile101Asn) c.194_195delinsAT (p.Ile65Asn) c.305_306delinsAT (p.Ile102Asn) c.178-4_178-3delinsAT (n.178-4_178-3delinsAT) c.195_196delinsAT (p.Tyr65Ter) n.2432_2433delinsAT n.354_355delinsAT n.228_229delinsAT c.166-62_166-61delinsAT (n.166-62_166-61delinsAT) | |
14 | g.90404395_90404396delinsCA | CA2579771346 | CALM1 | c.302_303delinsCA (p.Ile101Thr) c.194_195delinsCA (p.Ile65Thr) c.305_306delinsCA (p.Ile102Thr) c.178-4_178-3delinsCA (n.178-4_178-3delinsCA) c.195_196delinsCA (p.Gln66Lys) n.2432_2433delinsCA n.354_355delinsCA n.228_229delinsCA c.166-62_166-61delinsCA (n.166-62_166-61delinsCA) | |
14 | g.90404395_90404396delinsCG | CA2579772172 | CALM1 | c.302_303delinsCG (p.Ile101Thr) c.194_195delinsCG (p.Ile65Thr) c.305_306delinsCG (p.Ile102Thr) c.178-4_178-3delinsCG (n.178-4_178-3delinsCG) c.195_196delinsCG (p.Gln66Glu) n.2432_2433delinsCG n.354_355delinsCG n.228_229delinsCG c.166-62_166-61delinsCG (n.166-62_166-61delinsCG) | |
14 | g.90404395_90404396delinsCT | CA2579772383 | CALM1 | c.302_303delinsCT (p.Ile101Thr) c.194_195delinsCT (p.Ile65Thr) c.305_306delinsCT (p.Ile102Thr) c.178-4_178-3delinsCT (n.178-4_178-3delinsCT) c.195_196delinsCT (p.Tyr66Ter) n.2432_2433delinsCT n.354_355delinsCT n.228_229delinsCT c.166-62_166-61delinsCT (n.166-62_166-61delinsCT) | |
14 | g.90404395_90404396delinsGG | CA2579773968 | CALM1 | c.302_303delinsGG (p.Ile101Arg) c.194_195delinsGG (p.Ile65Arg) c.305_306delinsGG (p.Ile102Arg) c.178-4_178-3delinsGG (n.178-4_178-3delinsGG) c.195_196delinsGG (p.Tyr65Ter) n.2432_2433delinsGG n.354_355delinsGG n.228_229delinsGG c.166-62_166-61delinsGG (n.166-62_166-61delinsGG) | |
14 | g.90404395_90404396delinsGT | CA2579771368 | CALM1 | c.302_303delinsGT (p.Ile101Ser) c.194_195delinsGT (p.Ile65Ser) c.305_306delinsGT (p.Ile102Ser) c.178-4_178-3delinsGT (n.178-4_178-3delinsGT) c.195_196delinsGT (p.Tyr65Ter) n.2432_2433delinsGT n.354_355delinsGT n.228_229delinsGT c.166-62_166-61delinsGT (n.166-62_166-61delinsGT) | |
14 | g.90404396C>A | CA487760050 | CALM1 | c.303C>A (p.Ile101=) c.195C>A (p.Ile65=) c.306C>A (p.Ile102=) c.178-3C>A (n.178-3C>A) c.196C>A (p.Gln66Lys) n.2433C>A n.355C>A n.229C>A c.166-61C>A (n.166-61C>A) | |
14 | g.90404396C= | CA2154484076 | CALM1 | c.303C= (p.Ile101=) c.195C= (p.Ile65=) c.306C= (p.Ile102=) c.178-3C= (n.178-3C=) c.196C= (p.Gln66=) n.2433C= n.355C= n.229C= c.166-61C= (n.166-61C=) | |
14 | g.90404396C>G | CA390690139 | CALM1 | c.303C>G (p.Ile101Met) c.195C>G (p.Ile65Met) c.306C>G (p.Ile102Met) c.178-3C>G (n.178-3C>G) c.196C>G (p.Gln66Glu) n.2433C>G n.355C>G n.229C>G c.166-61C>G (n.166-61C>G) | |
14 | g.90404396C>T | CA7305795 | CALM1 | c.303C>T (p.Ile101=) c.195C>T (p.Ile65=) c.306C>T (p.Ile102=) c.178-3C>T (n.178-3C>T) c.196C>T (p.Gln66Ter) n.2433C>T n.355C>T n.229C>T c.166-61C>T (n.166-61C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404397A>C | CA390690140 | CALM1 | c.304A>C (p.Ser102Arg) c.196A>C (p.Ser66Arg) c.307A>C (p.Ser103Arg) c.178-2A>C (n.178-2A>C) c.197A>C (p.Gln66Pro) n.2434A>C n.356A>C n.230A>C c.166-60A>C (n.166-60A>C) | |
14 | g.90404397A>G | CA390690141 | CALM1 | c.304A>G (p.Ser102Gly) c.196A>G (p.Ser66Gly) c.307A>G (p.Ser103Gly) c.178-2A>G (n.178-2A>G) c.197A>G (p.Gln66Arg) n.2434A>G n.356A>G n.230A>G c.166-60A>G (n.166-60A>G) | |
14 | g.90404397A>T | CA390690142 | CALM1 | c.304A>T (p.Ser102Cys) c.196A>T (p.Ser66Cys) c.307A>T (p.Ser103Cys) c.178-2A>T (n.178-2A>T) c.197A>T (p.Gln66Leu) n.2434A>T n.356A>T n.230A>T c.166-60A>T (n.166-60A>T) | |
14 | g.90404397_90404398delinsCA | CA2579773907 | CALM1 | c.304_305delinsCA (p.Ser102His) c.196_197delinsCA (p.Ser66His) c.307_308delinsCA (p.Ser103His) c.178-2_178-1delinsCA (n.178-2_178-1delinsCA) c.197_198delinsCA (p.Gln66Pro) n.2434_2435delinsCA n.356_357delinsCA n.230_231delinsCA c.166-60_166-59delinsCA (n.166-60_166-59delinsCA) | |
14 | g.90404397_90404398delinsCC | CA2579773510 | CALM1 | c.304_305delinsCC (p.Ser102Pro) c.196_197delinsCC (p.Ser66Pro) c.307_308delinsCC (p.Ser103Pro) c.178-2_178-1delinsCC (n.178-2_178-1delinsCC) c.197_198delinsCC (p.Gln66Pro) n.2434_2435delinsCC n.356_357delinsCC n.230_231delinsCC c.166-60_166-59delinsCC (n.166-60_166-59delinsCC) | |
14 | g.90404397_90404398delinsCT | CA2579770591 | CALM1 | c.304_305delinsCT (p.Ser102Leu) c.196_197delinsCT (p.Ser66Leu) c.307_308delinsCT (p.Ser103Leu) c.178-2_178-1delinsCT (n.178-2_178-1delinsCT) c.197_198delinsCT (p.Gln66Pro) n.2434_2435delinsCT n.356_357delinsCT n.230_231delinsCT c.166-60_166-59delinsCT (n.166-60_166-59delinsCT) | |
14 | g.90404397_90404398delinsGA | CA2579769898 | CALM1 | c.304_305delinsGA (p.Ser102Asp) c.196_197delinsGA (p.Ser66Asp) c.307_308delinsGA (p.Ser103Asp) c.178-2_178-1delinsGA (n.178-2_178-1delinsGA) c.197_198delinsGA (p.Gln66Arg) n.2434_2435delinsGA n.356_357delinsGA n.230_231delinsGA c.166-60_166-59delinsGA (n.166-60_166-59delinsGA) | |
14 | g.90404397_90404398delinsGC | CA2579773309 | CALM1 | c.304_305delinsGC (p.Ser102Ala) c.196_197delinsGC (p.Ser66Ala) c.307_308delinsGC (p.Ser103Ala) c.178-2_178-1delinsGC (n.178-2_178-1delinsGC) c.197_198delinsGC (p.Gln66Arg) n.2434_2435delinsGC n.356_357delinsGC n.230_231delinsGC c.166-60_166-59delinsGC (n.166-60_166-59delinsGC) | |
14 | g.90404397_90404398delinsGT | CA2579770361 | CALM1 | c.304_305delinsGT (p.Ser102Val) c.196_197delinsGT (p.Ser66Val) c.307_308delinsGT (p.Ser103Val) c.178-2_178-1delinsGT (n.178-2_178-1delinsGT) c.197_198delinsGT (p.Gln66Arg) n.2434_2435delinsGT n.356_357delinsGT n.230_231delinsGT c.166-60_166-59delinsGT (n.166-60_166-59delinsGT) | |
14 | g.90404397_90404398delinsTA | CA2579773086 | CALM1 | c.304_305delinsTA (p.Ser102Tyr) c.196_197delinsTA (p.Ser66Tyr) c.307_308delinsTA (p.Ser103Tyr) c.178-2_178-1delinsTA (n.178-2_178-1delinsTA) c.197_198delinsTA (p.Gln66Leu) n.2434_2435delinsTA n.356_357delinsTA n.230_231delinsTA c.166-60_166-59delinsTA (n.166-60_166-59delinsTA) | |
14 | g.90404397_90404398delinsTC | CA2579773178 | CALM1 | c.304_305delinsTC (p.Ser102=) c.196_197delinsTC (p.Ser66=) c.307_308delinsTC (p.Ser103=) c.178-2_178-1delinsTC (n.178-2_178-1delinsTC) c.197_198delinsTC (p.Gln66Leu) n.2434_2435delinsTC n.356_357delinsTC n.230_231delinsTC c.166-60_166-59delinsTC (n.166-60_166-59delinsTC) | |
14 | g.90404397_90404398delinsTT | CA2579772674 | CALM1 | c.304_305delinsTT (p.Ser102Phe) c.196_197delinsTT (p.Ser66Phe) c.307_308delinsTT (p.Ser103Phe) c.178-2_178-1delinsTT (n.178-2_178-1delinsTT) c.197_198delinsTT (p.Gln66Leu) n.2434_2435delinsTT n.356_357delinsTT n.230_231delinsTT c.166-60_166-59delinsTT (n.166-60_166-59delinsTT) | |
14 | g.90404397_90404399delinsCCG | CA2579771262 | CALM1 | c.304_306delinsCCG (p.Ser102Pro) c.196_198delinsCCG (p.Ser66Pro) c.307_309delinsCCG (p.Ser103Pro) c.178-2_178delinsCCG c.197_199delinsCCG (p.Gln66_Cys67delinsProGly) n.2434_2436delinsCCG n.356_358delinsCCG n.230_232delinsCCG c.166-60_166-58delinsCCG (n.166-60_166-58delinsCCG) | |
14 | g.90404397_90404399delinsCGC | CA2579774255 | CALM1 | c.304_306delinsCGC (p.Ser102Arg) c.196_198delinsCGC (p.Ser66Arg) c.307_309delinsCGC (p.Ser103Arg) c.178-2_178delinsCGC c.197_199delinsCGC (p.Gln66_Cys67delinsProArg) n.2434_2436delinsCGC n.356_358delinsCGC n.230_232delinsCGC c.166-60_166-58delinsCGC (n.166-60_166-58delinsCGC) | |
14 | g.90404397_90404399delinsCGG | CA2579771103 | CALM1 | c.304_306delinsCGG (p.Ser102Arg) c.196_198delinsCGG (p.Ser66Arg) c.307_309delinsCGG (p.Ser103Arg) c.178-2_178delinsCGG c.197_199delinsCGG (p.Gln66_Cys67delinsProGly) n.2434_2436delinsCGG n.356_358delinsCGG n.230_232delinsCGG c.166-60_166-58delinsCGG (n.166-60_166-58delinsCGG) | |
14 | g.90404397_90404399delinsCTG | CA2579770452 | CALM1 | c.304_306delinsCTG (p.Ser102Leu) c.196_198delinsCTG (p.Ser66Leu) c.307_309delinsCTG (p.Ser103Leu) c.178-2_178delinsCTG c.197_199delinsCTG (p.Gln66_Cys67delinsProGly) n.2434_2436delinsCTG n.356_358delinsCTG n.230_232delinsCTG c.166-60_166-58delinsCTG (n.166-60_166-58delinsCTG) | |
14 | g.90404397_90404399delinsGGA | CA2579770698 | CALM1 | c.304_306delinsGGA (p.Ser102Gly) c.196_198delinsGGA (p.Ser66Gly) c.307_309delinsGGA (p.Ser103Gly) c.178-2_178delinsGGA c.197_199delinsGGA (p.Gln66_Cys67delinsArgSer) n.2434_2436delinsGGA n.356_358delinsGGA n.230_232delinsGGA c.166-60_166-58delinsGGA (n.166-60_166-58delinsGGA) | |
14 | g.90404397_90404399delinsGGC | CA2579773778 | CALM1 | c.304_306delinsGGC (p.Ser102Gly) c.196_198delinsGGC (p.Ser66Gly) c.307_309delinsGGC (p.Ser103Gly) c.178-2_178delinsGGC c.197_199delinsGGC (p.Gln66_Cys67delinsArgArg) n.2434_2436delinsGGC n.356_358delinsGGC n.230_232delinsGGC c.166-60_166-58delinsGGC (n.166-60_166-58delinsGGC) | |
14 | g.90404397_90404399delinsGGG | CA2579773891 | CALM1 | c.304_306delinsGGG (p.Ser102Gly) c.196_198delinsGGG (p.Ser66Gly) c.307_309delinsGGG (p.Ser103Gly) c.178-2_178delinsGGG c.197_199delinsGGG (p.Gln66_Cys67delinsArgGly) n.2434_2436delinsGGG n.356_358delinsGGG n.230_232delinsGGG c.166-60_166-58delinsGGG (n.166-60_166-58delinsGGG) | |
14 | g.90404397_90404399delinsTCG | CA2579770620 | CALM1 | c.304_306delinsTCG (p.Ser102=) c.196_198delinsTCG (p.Ser66=) c.307_309delinsTCG (p.Ser103=) c.178-2_178delinsTCG c.197_199delinsTCG (p.Gln66_Cys67delinsLeuGly) n.2434_2436delinsTCG n.356_358delinsTCG n.230_232delinsTCG c.166-60_166-58delinsTCG (n.166-60_166-58delinsTCG) | |
14 | g.90404397_90404399delinsTGA | CA2579771027 | CALM1 | c.304_306delinsTGA (p.Ser102Ter) c.196_198delinsTGA (p.Ser66Ter) c.307_309delinsTGA (p.Ser103Ter) c.178-2_178delinsTGA c.197_199delinsTGA (p.Gln66_Cys67delinsLeuSer) n.2434_2436delinsTGA n.356_358delinsTGA n.230_232delinsTGA c.166-60_166-58delinsTGA (n.166-60_166-58delinsTGA) | |
14 | g.90404397_90404399delinsTGC | CA2579773588 | CALM1 | c.304_306delinsTGC (p.Ser102Cys) c.196_198delinsTGC (p.Ser66Cys) c.307_309delinsTGC (p.Ser103Cys) c.178-2_178delinsTGC c.197_199delinsTGC (p.Gln66_Cys67delinsLeuArg) n.2434_2436delinsTGC n.356_358delinsTGC n.230_232delinsTGC c.166-60_166-58delinsTGC (n.166-60_166-58delinsTGC) | |
14 | g.90404397_90404399delinsTGG | CA2579771626 | CALM1 | c.304_306delinsTGG (p.Ser102Trp) c.196_198delinsTGG (p.Ser66Trp) c.307_309delinsTGG (p.Ser103Trp) c.178-2_178delinsTGG c.197_199delinsTGG (p.Gln66_Cys67delinsLeuGly) n.2434_2436delinsTGG n.356_358delinsTGG n.230_232delinsTGG c.166-60_166-58delinsTGG (n.166-60_166-58delinsTGG) | |
14 | g.90404397_90404399delinsTTG | CA2579774155 | CALM1 | c.304_306delinsTTG (p.Ser102Leu) c.196_198delinsTTG (p.Ser66Leu) c.307_309delinsTTG (p.Ser103Leu) c.178-2_178delinsTTG c.197_199delinsTTG (p.Gln66_Cys67delinsLeuGly) n.2434_2436delinsTTG n.356_358delinsTTG n.230_232delinsTTG c.166-60_166-58delinsTTG (n.166-60_166-58delinsTTG) | |
14 | g.90404398G>A | CA390690145 | CALM1 | c.305G>A (p.Ser102Asn) c.197G>A (p.Ser66Asn) c.308G>A (p.Ser103Asn) c.178-1G>A (n.178-1G>A) c.198G>A (p.Gln66=) n.2435G>A n.357G>A n.231G>A c.166-59G>A (n.166-59G>A) | |
14 | g.90404398G>C | CA390690144 | CALM1 | c.305G>C (p.Ser102Thr) c.197G>C (p.Ser66Thr) c.308G>C (p.Ser103Thr) c.178-1G>C (n.178-1G>C) c.198G>C (p.Gln66His) n.2435G>C n.357G>C n.231G>C c.166-59G>C (n.166-59G>C) | |
14 | g.90404398G>T | CA390690143 | CALM1 | c.305G>T (p.Ser102Ile) c.197G>T (p.Ser66Ile) c.308G>T (p.Ser103Ile) c.178-1G>T (n.178-1G>T) c.198G>T (p.Gln66His) n.2435G>T n.357G>T n.231G>T c.166-59G>T (n.166-59G>T) | |
14 | g.90404398_90404399delinsAA | CA2579771210 | CALM1 | c.305_306delinsAA (p.Ser102Lys) c.197_198delinsAA (p.Ser66Lys) c.308_309delinsAA (p.Ser103Lys) c.178-1_178delinsAA c.198_199delinsAA (p.Cys67Ser) n.2435_2436delinsAA n.357_358delinsAA n.231_232delinsAA c.166-59_166-58delinsAA (n.166-59_166-58delinsAA) | |
14 | g.90404398_90404399delinsAC | CA2579772393 | CALM1 | c.305_306delinsAC (p.Ser102Asn) c.197_198delinsAC (p.Ser66Asn) c.308_309delinsAC (p.Ser103Asn) c.178-1_178delinsAC c.198_199delinsAC (p.Cys67Arg) n.2435_2436delinsAC n.357_358delinsAC n.231_232delinsAC c.166-59_166-58delinsAC (n.166-59_166-58delinsAC) | |
14 | g.90404398_90404399delinsAG | CA2579774156 | CALM1 | c.305_306delinsAG (p.Ser102Lys) c.197_198delinsAG (p.Ser66Lys) c.308_309delinsAG (p.Ser103Lys) c.178-1_178delinsAG c.198_199delinsAG (p.Cys67Gly) n.2435_2436delinsAG n.357_358delinsAG n.231_232delinsAG c.166-59_166-58delinsAG (n.166-59_166-58delinsAG) | |
14 | g.90404398_90404399delinsCA | CA2579769970 | CALM1 | c.305_306delinsCA (p.Ser102Thr) c.197_198delinsCA (p.Ser66Thr) c.308_309delinsCA (p.Ser103Thr) c.178-1_178delinsCA c.198_199delinsCA (p.Gln66_Cys67delinsHisSer) n.2435_2436delinsCA n.357_358delinsCA n.231_232delinsCA c.166-59_166-58delinsCA (n.166-59_166-58delinsCA) | |
14 | g.90404398_90404399delinsCG | CA2579770704 | CALM1 | c.305_306delinsCG (p.Ser102Thr) c.197_198delinsCG (p.Ser66Thr) c.308_309delinsCG (p.Ser103Thr) c.178-1_178delinsCG c.198_199delinsCG (p.Gln66_Cys67delinsHisGly) n.2435_2436delinsCG n.357_358delinsCG n.231_232delinsCG c.166-59_166-58delinsCG (n.166-59_166-58delinsCG) | |
14 | g.90404398_90404399delinsTA | CA2579772759 | CALM1 | c.305_306delinsTA (p.Ser102Ile) c.197_198delinsTA (p.Ser66Ile) c.308_309delinsTA (p.Ser103Ile) c.178-1_178delinsTA c.198_199delinsTA (p.Gln66_Cys67delinsHisSer) n.2435_2436delinsTA n.357_358delinsTA n.231_232delinsTA c.166-59_166-58delinsTA (n.166-59_166-58delinsTA) | |
14 | g.90404398_90404399delinsTC | CA2579773411 | CALM1 | c.305_306delinsTC (p.Ser102Ile) c.197_198delinsTC (p.Ser66Ile) c.308_309delinsTC (p.Ser103Ile) c.178-1_178delinsTC c.198_199delinsTC (p.Gln66_Cys67delinsHisArg) n.2435_2436delinsTC n.357_358delinsTC n.231_232delinsTC c.166-59_166-58delinsTC (n.166-59_166-58delinsTC) | |
14 | g.90404398_90404399delinsTG | CA2579773787 | CALM1 | c.305_306delinsTG (p.Ser102Met) c.197_198delinsTG (p.Ser66Met) c.308_309delinsTG (p.Ser103Met) c.178-1_178delinsTG c.198_199delinsTG (p.Gln66_Cys67delinsHisGly) n.2435_2436delinsTG n.357_358delinsTG n.231_232delinsTG c.166-59_166-58delinsTG (n.166-59_166-58delinsTG) | |
14 | g.90404399T>A | CA390690146 | CALM1 | c.306T>A (p.Ser102Arg) c.198T>A (p.Ser66Arg) c.309T>A (p.Ser103Arg) c.178T>A (p.Cys60Ser) c.199T>A (p.Cys67Ser) n.2436T>A n.358T>A n.232T>A c.166-58T>A (n.166-58T>A) | |
14 | g.90404399T>C | CA487760063 | CALM1 | c.306T>C (p.Ser102=) c.198T>C (p.Ser66=) c.309T>C (p.Ser103=) c.178T>C (p.Cys60Arg) c.199T>C (p.Cys67Arg) n.2436T>C n.358T>C n.232T>C c.166-58T>C (n.166-58T>C) | |
14 | g.90404399T>G | CA390690147 | CALM1 | c.306T>G (p.Ser102Arg) c.198T>G (p.Ser66Arg) c.309T>G (p.Ser103Arg) c.178T>G (p.Cys60Gly) c.199T>G (p.Cys67Gly) n.2436T>G n.358T>G n.232T>G c.166-58T>G (n.166-58T>G) | |
14 | g.90404400G>A | CA390690148 | CALM1 | c.307G>A (p.Ala103Thr) c.199G>A (p.Ala67Thr) c.310G>A (p.Ala104Thr) c.179G>A (p.Cys60Tyr) c.200G>A (p.Cys67Tyr) n.2437G>A n.359G>A n.233G>A c.166-57G>A (n.166-57G>A) | |
14 | g.90404400G>C | CA390690150 | CALM1 | c.307G>C (p.Ala103Pro) c.199G>C (p.Ala67Pro) c.310G>C (p.Ala104Pro) c.179G>C (p.Cys60Ser) c.200G>C (p.Cys67Ser) n.2437G>C n.359G>C n.233G>C c.166-57G>C (n.166-57G>C) | |
14 | g.90404400G>T | CA390690149 | CALM1 | c.307G>T (p.Ala103Ser) c.199G>T (p.Ala67Ser) c.310G>T (p.Ala104Ser) c.179G>T (p.Cys60Phe) c.200G>T (p.Cys67Phe) n.2437G>T n.359G>T n.233G>T c.166-57G>T (n.166-57G>T) | |
14 | g.90404400_90404401delinsAA | CA2579770347 | CALM1 | c.307_308delinsAA (p.Ala103Lys) c.199_200delinsAA (p.Ala67Lys) c.310_311delinsAA (p.Ala104Lys) c.179_180delinsAA (p.Cys60Ter) c.200_201delinsAA (p.Cys67Ter) n.2437_2438delinsAA n.359_360delinsAA n.233_234delinsAA c.166-57_166-56delinsAA (n.166-57_166-56delinsAA) | |
14 | g.90404400_90404401delinsAG | CA2579770147 | CALM1 | c.307_308delinsAG (p.Ala103Arg) c.199_200delinsAG (p.Ala67Arg) c.310_311delinsAG (p.Ala104Arg) c.179_180delinsAG (p.Cys60Ter) c.200_201delinsAG (p.Cys67Ter) n.2437_2438delinsAG n.359_360delinsAG n.233_234delinsAG c.166-57_166-56delinsAG (n.166-57_166-56delinsAG) | |
14 | g.90404400_90404401delinsAT | CA2579771836 | CALM1 | c.307_308delinsAT (p.Ala103Ile) c.199_200delinsAT (p.Ala67Ile) c.310_311delinsAT (p.Ala104Ile) c.179_180delinsAT (p.Cys60Tyr) c.200_201delinsAT (p.Cys67Tyr) n.2437_2438delinsAT n.359_360delinsAT n.233_234delinsAT c.166-57_166-56delinsAT (n.166-57_166-56delinsAT) | |
14 | g.90404400_90404401delinsCA | CA2579771311 | CALM1 | c.307_308delinsCA (p.Ala103Gln) c.199_200delinsCA (p.Ala67Gln) c.310_311delinsCA (p.Ala104Gln) c.179_180delinsCA (p.Cys60Ser) c.200_201delinsCA (p.Cys67Ser) n.2437_2438delinsCA n.359_360delinsCA n.233_234delinsCA c.166-57_166-56delinsCA (n.166-57_166-56delinsCA) | |
14 | g.90404400_90404401delinsCG | CA2579774322 | CALM1 | c.307_308delinsCG (p.Ala103Arg) c.199_200delinsCG (p.Ala67Arg) c.310_311delinsCG (p.Ala104Arg) c.179_180delinsCG (p.Cys60Ser) c.200_201delinsCG (p.Cys67Ser) n.2437_2438delinsCG n.359_360delinsCG n.233_234delinsCG c.166-57_166-56delinsCG (n.166-57_166-56delinsCG) | |
14 | g.90404400_90404401delinsCT | CA2579773541 | CALM1 | c.307_308delinsCT (p.Ala103Leu) c.199_200delinsCT (p.Ala67Leu) c.310_311delinsCT (p.Ala104Leu) c.179_180delinsCT (p.Cys60Ser) c.200_201delinsCT (p.Cys67Ser) n.2437_2438delinsCT n.359_360delinsCT n.233_234delinsCT c.166-57_166-56delinsCT (n.166-57_166-56delinsCT) | |
14 | g.90404400_90404401delinsTA | CA2579771502 | CALM1 | c.307_308delinsTA (p.Ala103Ter) c.199_200delinsTA (p.Ala67Ter) c.310_311delinsTA (p.Ala104Ter) c.179_180delinsTA (p.Cys60Leu) c.200_201delinsTA (p.Cys67Leu) n.2437_2438delinsTA n.359_360delinsTA n.233_234delinsTA c.166-57_166-56delinsTA (n.166-57_166-56delinsTA) | |
14 | g.90404400_90404401delinsTG | CA2579773057 | CALM1 | c.307_308delinsTG (p.Ala103Ter) c.199_200delinsTG (p.Ala67Ter) c.310_311delinsTG (p.Ala104Ter) c.179_180delinsTG (p.Cys60Leu) c.200_201delinsTG (p.Cys67Leu) n.2437_2438delinsTG n.359_360delinsTG n.233_234delinsTG c.166-57_166-56delinsTG (n.166-57_166-56delinsTG) | |
14 | g.90404400_90404401delinsTT | CA2579771556 | CALM1 | c.307_308delinsTT (p.Ala103Leu) c.199_200delinsTT (p.Ala67Leu) c.310_311delinsTT (p.Ala104Leu) c.179_180delinsTT (p.Cys60Phe) c.200_201delinsTT (p.Cys67Phe) n.2437_2438delinsTT n.359_360delinsTT n.233_234delinsTT c.166-57_166-56delinsTT (n.166-57_166-56delinsTT) | |
14 | g.90404400_90404402delinsAAG | CA2579770157 | CALM1 | c.307_309delinsAAG (p.Ala103Lys) c.199_201delinsAAG (p.Ala67Lys) c.310_312delinsAAG (p.Ala104Lys) c.179_181delinsAAG (p.Cys60Ter) c.200_202delinsAAG (p.Cys67Ter) n.2437_2439delinsAAG n.359_361delinsAAG n.233_235delinsAAG c.166-57_166-55delinsAAG (n.166-57_166-55delinsAAG) | |
14 | g.90404400_90404402delinsAAT | CA2579772781 | CALM1 | c.307_309delinsAAT (p.Ala103Asn) c.199_201delinsAAT (p.Ala67Asn) c.310_312delinsAAT (p.Ala104Asn) c.179_181delinsAAT (p.Cys60Ter) c.200_202delinsAAT (p.Cys67Ter) n.2437_2439delinsAAT n.359_361delinsAAT n.233_235delinsAAT c.166-57_166-55delinsAAT (n.166-57_166-55delinsAAT) | |
14 | g.90404400_90404402delinsACG | CA2579772088 | CALM1 | c.307_309delinsACG (p.Ala103Thr) c.199_201delinsACG (p.Ala67Thr) c.310_312delinsACG (p.Ala104Thr) c.179_181delinsACG (p.Cys60_Ser61delinsTyrGly) c.200_202delinsACG (p.Cys67_Ser68delinsTyrGly) n.2437_2439delinsACG n.359_361delinsACG n.233_235delinsACG c.166-57_166-55delinsACG (n.166-57_166-55delinsACG) | |
14 | g.90404400_90404402delinsACT | CA2579773279 | CALM1 | c.307_309delinsACT (p.Ala103Thr) c.199_201delinsACT (p.Ala67Thr) c.310_312delinsACT (p.Ala104Thr) c.179_181delinsACT (p.Cys60_Ser61delinsTyrCys) c.200_202delinsACT (p.Cys67_Ser68delinsTyrCys) n.2437_2439delinsACT n.359_361delinsACT n.233_235delinsACT c.166-57_166-55delinsACT (n.166-57_166-55delinsACT) | |
14 | g.90404400_90404402delinsAGG | CA2579771075 | CALM1 | c.307_309delinsAGG (p.Ala103Arg) c.199_201delinsAGG (p.Ala67Arg) c.310_312delinsAGG (p.Ala104Arg) c.179_181delinsAGG (p.Cys60Ter) c.200_202delinsAGG (p.Cys67Ter) n.2437_2439delinsAGG n.359_361delinsAGG n.233_235delinsAGG c.166-57_166-55delinsAGG (n.166-57_166-55delinsAGG) | |
14 | g.90404400_90404402delinsATG | CA2579772663 | CALM1 | c.307_309delinsATG (p.Ala103Met) c.199_201delinsATG (p.Ala67Met) c.310_312delinsATG (p.Ala104Met) c.179_181delinsATG (p.Cys60_Ser61delinsTyrGly) c.200_202delinsATG (p.Cys67_Ser68delinsTyrGly) n.2437_2439delinsATG n.359_361delinsATG n.233_235delinsATG c.166-57_166-55delinsATG (n.166-57_166-55delinsATG) | |
14 | g.90404400_90404402delinsATT | CA2579773444 | CALM1 | c.307_309delinsATT (p.Ala103Ile) c.199_201delinsATT (p.Ala67Ile) c.310_312delinsATT (p.Ala104Ile) c.179_181delinsATT (p.Cys60_Ser61delinsTyrCys) c.200_202delinsATT (p.Cys67_Ser68delinsTyrCys) n.2437_2439delinsATT n.359_361delinsATT n.233_235delinsATT c.166-57_166-55delinsATT (n.166-57_166-55delinsATT) | |
14 | g.90404400_90404402delinsCCG | CA2579770615 | CALM1 | c.307_309delinsCCG (p.Ala103Pro) c.199_201delinsCCG (p.Ala67Pro) c.310_312delinsCCG (p.Ala104Pro) c.179_181delinsCCG (p.Cys60_Ser61delinsSerGly) c.200_202delinsCCG (p.Cys67_Ser68delinsSerGly) n.2437_2439delinsCCG n.359_361delinsCCG n.233_235delinsCCG c.166-57_166-55delinsCCG (n.166-57_166-55delinsCCG) | |
14 | g.90404400_90404402delinsCCT | CA2579774287 | CALM1 | c.307_309delinsCCT (p.Ala103Pro) c.199_201delinsCCT (p.Ala67Pro) c.310_312delinsCCT (p.Ala104Pro) c.179_181delinsCCT (p.Cys60_Ser61delinsSerCys) c.200_202delinsCCT (p.Cys67_Ser68delinsSerCys) n.2437_2439delinsCCT n.359_361delinsCCT n.233_235delinsCCT c.166-57_166-55delinsCCT (n.166-57_166-55delinsCCT) | |
14 | g.90404400_90404402delinsCGG | CA2579772770 | CALM1 | c.307_309delinsCGG (p.Ala103Arg) c.199_201delinsCGG (p.Ala67Arg) c.310_312delinsCGG (p.Ala104Arg) c.179_181delinsCGG (p.Cys60_Ser61delinsSerGly) c.200_202delinsCGG (p.Cys67_Ser68delinsSerGly) n.2437_2439delinsCGG n.359_361delinsCGG n.233_235delinsCGG c.166-57_166-55delinsCGG (n.166-57_166-55delinsCGG) | |
14 | g.90404400_90404402delinsCGT | CA2579769934 | CALM1 | c.307_309delinsCGT (p.Ala103Arg) c.199_201delinsCGT (p.Ala67Arg) c.310_312delinsCGT (p.Ala104Arg) c.179_181delinsCGT (p.Cys60_Ser61delinsSerCys) c.200_202delinsCGT (p.Cys67_Ser68delinsSerCys) n.2437_2439delinsCGT n.359_361delinsCGT n.233_235delinsCGT c.166-57_166-55delinsCGT (n.166-57_166-55delinsCGT) | |
14 | g.90404400_90404402delinsCTG | CA2579773304 | CALM1 | c.307_309delinsCTG (p.Ala103Leu) c.199_201delinsCTG (p.Ala67Leu) c.310_312delinsCTG (p.Ala104Leu) c.179_181delinsCTG (p.Cys60_Ser61delinsSerGly) c.200_202delinsCTG (p.Cys67_Ser68delinsSerGly) n.2437_2439delinsCTG n.359_361delinsCTG n.233_235delinsCTG c.166-57_166-55delinsCTG (n.166-57_166-55delinsCTG) | |
14 | g.90404400_90404402delinsCTT | CA2579769976 | CALM1 | c.307_309delinsCTT (p.Ala103Leu) c.199_201delinsCTT (p.Ala67Leu) c.310_312delinsCTT (p.Ala104Leu) c.179_181delinsCTT (p.Cys60_Ser61delinsSerCys) c.200_202delinsCTT (p.Cys67_Ser68delinsSerCys) n.2437_2439delinsCTT n.359_361delinsCTT n.233_235delinsCTT c.166-57_166-55delinsCTT (n.166-57_166-55delinsCTT) | |
14 | g.90404400_90404402delinsTAG | CA2579771750 | CALM1 | c.307_309delinsTAG (p.Ala103Ter) c.199_201delinsTAG (p.Ala67Ter) c.310_312delinsTAG (p.Ala104Ter) c.179_181delinsTAG (p.Cys60_Ser61delinsLeuGly) c.200_202delinsTAG (p.Cys67_Ser68delinsLeuGly) n.2437_2439delinsTAG n.359_361delinsTAG n.233_235delinsTAG c.166-57_166-55delinsTAG (n.166-57_166-55delinsTAG) | |
14 | g.90404400_90404402delinsTAT | CA2579771410 | CALM1 | c.307_309delinsTAT (p.Ala103Tyr) c.199_201delinsTAT (p.Ala67Tyr) c.310_312delinsTAT (p.Ala104Tyr) c.179_181delinsTAT (p.Cys60_Ser61delinsLeuCys) c.200_202delinsTAT (p.Cys67_Ser68delinsLeuCys) n.2437_2439delinsTAT n.359_361delinsTAT n.233_235delinsTAT c.166-57_166-55delinsTAT (n.166-57_166-55delinsTAT) | |
14 | g.90404400_90404402delinsTCG | CA2579773849 | CALM1 | c.307_309delinsTCG (p.Ala103Ser) c.199_201delinsTCG (p.Ala67Ser) c.310_312delinsTCG (p.Ala104Ser) c.179_181delinsTCG (p.Cys60_Ser61delinsPheGly) c.200_202delinsTCG (p.Cys67_Ser68delinsPheGly) n.2437_2439delinsTCG n.359_361delinsTCG n.233_235delinsTCG c.166-57_166-55delinsTCG (n.166-57_166-55delinsTCG) | |
14 | g.90404400_90404402delinsTCT | CA2579773151 | CALM1 | c.307_309delinsTCT (p.Ala103Ser) c.199_201delinsTCT (p.Ala67Ser) c.310_312delinsTCT (p.Ala104Ser) c.179_181delinsTCT (p.Cys60_Ser61delinsPheCys) c.200_202delinsTCT (p.Cys67_Ser68delinsPheCys) n.2437_2439delinsTCT n.359_361delinsTCT n.233_235delinsTCT c.166-57_166-55delinsTCT (n.166-57_166-55delinsTCT) | |
14 | g.90404400_90404402delinsTGG | CA2579770266 | CALM1 | c.307_309delinsTGG (p.Ala103Trp) c.199_201delinsTGG (p.Ala67Trp) c.310_312delinsTGG (p.Ala104Trp) c.179_181delinsTGG (p.Cys60_Ser61delinsLeuGly) c.200_202delinsTGG (p.Cys67_Ser68delinsLeuGly) n.2437_2439delinsTGG n.359_361delinsTGG n.233_235delinsTGG c.166-57_166-55delinsTGG (n.166-57_166-55delinsTGG) | |
14 | g.90404400_90404402delinsTGT | CA2579773058 | CALM1 | c.307_309delinsTGT (p.Ala103Cys) c.199_201delinsTGT (p.Ala67Cys) c.310_312delinsTGT (p.Ala104Cys) c.179_181delinsTGT (p.Cys60_Ser61delinsLeuCys) c.200_202delinsTGT (p.Cys67_Ser68delinsLeuCys) n.2437_2439delinsTGT n.359_361delinsTGT n.233_235delinsTGT c.166-57_166-55delinsTGT (n.166-57_166-55delinsTGT) | |
14 | g.90404400_90404402delinsTTG | CA2579770345 | CALM1 | c.307_309delinsTTG (p.Ala103Leu) c.199_201delinsTTG (p.Ala67Leu) c.310_312delinsTTG (p.Ala104Leu) c.179_181delinsTTG (p.Cys60_Ser61delinsPheGly) c.200_202delinsTTG (p.Cys67_Ser68delinsPheGly) n.2437_2439delinsTTG n.359_361delinsTTG n.233_235delinsTTG c.166-57_166-55delinsTTG (n.166-57_166-55delinsTTG) | |
14 | g.90404400_90404402delinsTTT | CA2579770110 | CALM1 | c.307_309delinsTTT (p.Ala103Phe) c.199_201delinsTTT (p.Ala67Phe) c.310_312delinsTTT (p.Ala104Phe) c.179_181delinsTTT (p.Cys60_Ser61delinsPheCys) c.200_202delinsTTT (p.Cys67_Ser68delinsPheCys) n.2437_2439delinsTTT n.359_361delinsTTT n.233_235delinsTTT c.166-57_166-55delinsTTT (n.166-57_166-55delinsTTT) | |
14 | g.90404401C>A | CA390690151 | CALM1 | c.308C>A (p.Ala103Glu) c.200C>A (p.Ala67Glu) c.311C>A (p.Ala104Glu) c.180C>A (p.Cys60Ter) c.201C>A (p.Cys67Ter) n.2438C>A n.360C>A n.234C>A c.166-56C>A (n.166-56C>A) | |
14 | g.90404401C>G | CA390690152 | CALM1 | c.308C>G (p.Ala103Gly) c.200C>G (p.Ala67Gly) c.311C>G (p.Ala104Gly) c.180C>G (p.Cys60Trp) c.201C>G (p.Cys67Trp) n.2438C>G n.360C>G n.234C>G c.166-56C>G (n.166-56C>G) | |
14 | g.90404401C>T | CA390690153 | CALM1 | c.308C>T (p.Ala103Val) c.200C>T (p.Ala67Val) c.311C>T (p.Ala104Val) c.180C>T (p.Cys60=) c.201C>T (p.Cys67=) n.2438C>T n.360C>T n.234C>T c.166-56C>T (n.166-56C>T) | |
14 | g.90404401_90404402delinsAG | CA2579769941 | CALM1 | c.308_309delinsAG (p.Ala103Glu) c.200_201delinsAG (p.Ala67Glu) c.311_312delinsAG (p.Ala104Glu) c.180_181delinsAG (p.Cys60Ter) c.201_202delinsAG (p.Cys67Ter) n.2438_2439delinsAG n.360_361delinsAG n.234_235delinsAG c.166-56_166-55delinsAG (n.166-56_166-55delinsAG) | |
14 | g.90404401_90404402delinsAT | CA2579771889 | CALM1 | c.308_309delinsAT (p.Ala103Asp) c.200_201delinsAT (p.Ala67Asp) c.311_312delinsAT (p.Ala104Asp) c.180_181delinsAT (p.Cys60Ter) c.201_202delinsAT (p.Cys67Ter) n.2438_2439delinsAT n.360_361delinsAT n.234_235delinsAT c.166-56_166-55delinsAT (n.166-56_166-55delinsAT) | |
14 | g.90404401_90404402delinsGG | CA2579773454 | CALM1 | c.308_309delinsGG (p.Ala103Gly) c.200_201delinsGG (p.Ala67Gly) c.311_312delinsGG (p.Ala104Gly) c.180_181delinsGG (p.Cys60_Ser61delinsTrpGly) c.201_202delinsGG (p.Cys67_Ser68delinsTrpGly) n.2438_2439delinsGG n.360_361delinsGG n.234_235delinsGG c.166-56_166-55delinsGG (n.166-56_166-55delinsGG) | |
14 | g.90404401_90404402delinsGT | CA2579773050 | CALM1 | c.308_309delinsGT (p.Ala103Gly) c.200_201delinsGT (p.Ala67Gly) c.311_312delinsGT (p.Ala104Gly) c.180_181delinsGT (p.Cys60_Ser61delinsTrpCys) c.201_202delinsGT (p.Cys67_Ser68delinsTrpCys) n.2438_2439delinsGT n.360_361delinsGT n.234_235delinsGT c.166-56_166-55delinsGT (n.166-56_166-55delinsGT) | |
14 | g.90404401_90404402delinsTG | CA2579771521 | CALM1 | c.308_309delinsTG (p.Ala103Val) c.200_201delinsTG (p.Ala67Val) c.311_312delinsTG (p.Ala104Val) c.180_181delinsTG (p.Ser61Gly) c.201_202delinsTG (p.Ser68Gly) n.2438_2439delinsTG n.360_361delinsTG n.234_235delinsTG c.166-56_166-55delinsTG (n.166-56_166-55delinsTG) | |
14 | g.90404401_90404402delinsTT | CA2579772977 | CALM1 | c.308_309delinsTT (p.Ala103Val) c.200_201delinsTT (p.Ala67Val) c.311_312delinsTT (p.Ala104Val) c.180_181delinsTT (p.Ser61Cys) c.201_202delinsTT (p.Ser68Cys) n.2438_2439delinsTT n.360_361delinsTT n.234_235delinsTT c.166-56_166-55delinsTT (n.166-56_166-55delinsTT) | |
14 | g.90404402A>C | CA487760076 | CALM1 | c.309A>C (p.Ala103=) c.201A>C (p.Ala67=) c.312A>C (p.Ala104=) c.181A>C (p.Ser61Arg) c.202A>C (p.Ser68Arg) n.2439A>C n.361A>C n.235A>C c.166-55A>C (n.166-55A>C) | |
14 | g.90404402A>G | CA487760078 | CALM1 | c.309A>G (p.Ala103=) c.201A>G (p.Ala67=) c.312A>G (p.Ala104=) c.181A>G (p.Ser61Gly) c.202A>G (p.Ser68Gly) n.2439A>G n.361A>G n.235A>G c.166-55A>G (n.166-55A>G) | |
14 | g.90404402A>T | CA487760074 | CALM1 | c.309A>T (p.Ala103=) c.201A>T (p.Ala67=) c.312A>T (p.Ala104=) c.181A>T (p.Ser61Cys) c.202A>T (p.Ser68Cys) n.2439A>T n.361A>T n.235A>T c.166-55A>T (n.166-55A>T) | ClinVar |
14 | g.90404403G>A | CA390690154 | CALM1 | c.310G>A (p.Ala104Thr) c.202G>A (p.Ala68Thr) c.313G>A (p.Ala105Thr) c.182G>A (p.Ser61Asn) c.203G>A (p.Ser68Asn) n.2440G>A n.362G>A n.236G>A c.166-54G>A (n.166-54G>A) | |
14 | g.90404403G>C | CA390690155 | CALM1 | c.310G>C (p.Ala104Pro) c.202G>C (p.Ala68Pro) c.313G>C (p.Ala105Pro) c.182G>C (p.Ser61Thr) c.203G>C (p.Ser68Thr) n.2440G>C n.362G>C n.236G>C c.166-54G>C (n.166-54G>C) | |
14 | g.90404403G>T | CA390690156 | CALM1 | c.310G>T (p.Ala104Ser) c.202G>T (p.Ala68Ser) c.313G>T (p.Ala105Ser) c.182G>T (p.Ser61Ile) c.203G>T (p.Ser68Ile) n.2440G>T n.362G>T n.236G>T c.166-54G>T (n.166-54G>T) | |
14 | g.90404403_90404404delinsAA | CA2579771404 | CALM1 | c.310_311delinsAA (p.Ala104Lys) c.202_203delinsAA (p.Ala68Lys) c.313_314delinsAA (p.Ala105Lys) c.182_183delinsAA (p.Ser61Lys) c.203_204delinsAA (p.Ser68Lys) n.2440_2441delinsAA n.362_363delinsAA n.236_237delinsAA c.166-54_166-53delinsAA (n.166-54_166-53delinsAA) | |
14 | g.90404403_90404404delinsAG | CA2579772005 | CALM1 | c.310_311delinsAG (p.Ala104Arg) c.202_203delinsAG (p.Ala68Arg) c.313_314delinsAG (p.Ala105Arg) c.182_183delinsAG (p.Ser61Lys) c.203_204delinsAG (p.Ser68Lys) n.2440_2441delinsAG n.362_363delinsAG n.236_237delinsAG c.166-54_166-53delinsAG (n.166-54_166-53delinsAG) | |
14 | g.90404403_90404404delinsAT | CA2579770095 | CALM1 | c.310_311delinsAT (p.Ala104Ile) c.202_203delinsAT (p.Ala68Ile) c.313_314delinsAT (p.Ala105Ile) c.182_183delinsAT (p.Ser61Asn) c.203_204delinsAT (p.Ser68Asn) n.2440_2441delinsAT n.362_363delinsAT n.236_237delinsAT c.166-54_166-53delinsAT (n.166-54_166-53delinsAT) | |
14 | g.90404403_90404404delinsCG | CA2579773985 | CALM1 | c.310_311delinsCG (p.Ala104Arg) c.202_203delinsCG (p.Ala68Arg) c.313_314delinsCG (p.Ala105Arg) c.182_183delinsCG (p.Ser61Thr) c.203_204delinsCG (p.Ser68Thr) n.2440_2441delinsCG n.362_363delinsCG n.236_237delinsCG c.166-54_166-53delinsCG (n.166-54_166-53delinsCG) | |
14 | g.90404403_90404404delinsCT | CA2579773902 | CALM1 | c.310_311delinsCT (p.Ala104Leu) c.202_203delinsCT (p.Ala68Leu) c.313_314delinsCT (p.Ala105Leu) c.182_183delinsCT (p.Ser61Thr) c.203_204delinsCT (p.Ser68Thr) n.2440_2441delinsCT n.362_363delinsCT n.236_237delinsCT c.166-54_166-53delinsCT (n.166-54_166-53delinsCT) | |
14 | g.90404403_90404404delinsTA | CA2579769771 | CALM1 | c.310_311delinsTA (p.Ala104Ter) c.202_203delinsTA (p.Ala68Ter) c.313_314delinsTA (p.Ala105Ter) c.182_183delinsTA (p.Ser61Ile) c.203_204delinsTA (p.Ser68Ile) n.2440_2441delinsTA n.362_363delinsTA n.236_237delinsTA c.166-54_166-53delinsTA (n.166-54_166-53delinsTA) | |
14 | g.90404403_90404404delinsTT | CA2579773885 | CALM1 | c.310_311delinsTT (p.Ala104Leu) c.202_203delinsTT (p.Ala68Leu) c.313_314delinsTT (p.Ala105Leu) c.182_183delinsTT (p.Ser61Ile) c.203_204delinsTT (p.Ser68Ile) n.2440_2441delinsTT n.362_363delinsTT n.236_237delinsTT c.166-54_166-53delinsTT (n.166-54_166-53delinsTT) | |
14 | g.90404403_90404405delinsAAG | CA2579771751 | CALM1 | c.310_312delinsAAG (p.Ala104Lys) c.202_204delinsAAG (p.Ala68Lys) c.313_315delinsAAG (p.Ala105Lys) c.182_184delinsAAG (p.Ser61_Arg62delinsLysGly) c.203_205delinsAAG (p.Ser68_Arg69delinsLysGly) n.2440_2442delinsAAG n.362_364delinsAAG n.236_238delinsAAG c.166-54_166-52delinsAAG (n.166-54_166-52delinsAAG) | |
14 | g.90404403_90404405delinsAAT | CA2579769835 | CALM1 | c.310_312delinsAAT (p.Ala104Asn) c.202_204delinsAAT (p.Ala68Asn) c.313_315delinsAAT (p.Ala105Asn) c.182_184delinsAAT (p.Ser61LysfsTer2) c.203_205delinsAAT (p.Ser68LysfsTer2) n.2440_2442delinsAAT n.362_364delinsAAT n.236_238delinsAAT c.166-54_166-52delinsAAT (n.166-54_166-52delinsAAT) | |
14 | g.90404403_90404405delinsACG | CA2579774203 | CALM1 | c.310_312delinsACG (p.Ala104Thr) c.202_204delinsACG (p.Ala68Thr) c.313_315delinsACG (p.Ala105Thr) c.182_184delinsACG (p.Ser61_Arg62delinsAsnGly) c.203_205delinsACG (p.Ser68_Arg69delinsAsnGly) n.2440_2442delinsACG n.362_364delinsACG n.236_238delinsACG c.166-54_166-52delinsACG (n.166-54_166-52delinsACG) | |
14 | g.90404403_90404405delinsACT | CA2579771282 | CALM1 | c.310_312delinsACT (p.Ala104Thr) c.202_204delinsACT (p.Ala68Thr) c.313_315delinsACT (p.Ala105Thr) c.182_184delinsACT (p.Ser61AsnfsTer2) c.203_205delinsACT (p.Ser68AsnfsTer2) n.2440_2442delinsACT n.362_364delinsACT n.236_238delinsACT c.166-54_166-52delinsACT (n.166-54_166-52delinsACT) | |
14 | g.90404403_90404405delinsAGG | CA2579772975 | CALM1 | c.310_312delinsAGG (p.Ala104Arg) c.202_204delinsAGG (p.Ala68Arg) c.313_315delinsAGG (p.Ala105Arg) c.182_184delinsAGG (p.Ser61_Arg62delinsLysGly) c.203_205delinsAGG (p.Ser68_Arg69delinsLysGly) n.2440_2442delinsAGG n.362_364delinsAGG n.236_238delinsAGG c.166-54_166-52delinsAGG (n.166-54_166-52delinsAGG) | |
14 | g.90404403_90404405delinsAGT | CA2579772142 | CALM1 | c.310_312delinsAGT (p.Ala104Ser) c.202_204delinsAGT (p.Ala68Ser) c.313_315delinsAGT (p.Ala105Ser) c.182_184delinsAGT (p.Ser61LysfsTer2) c.203_205delinsAGT (p.Ser68LysfsTer2) n.2440_2442delinsAGT n.362_364delinsAGT n.236_238delinsAGT c.166-54_166-52delinsAGT (n.166-54_166-52delinsAGT) | |
14 | g.90404403_90404405delinsATG | CA2579773731 | CALM1 | c.310_312delinsATG (p.Ala104Met) c.202_204delinsATG (p.Ala68Met) c.313_315delinsATG (p.Ala105Met) c.182_184delinsATG (p.Ser61_Arg62delinsAsnGly) c.203_205delinsATG (p.Ser68_Arg69delinsAsnGly) n.2440_2442delinsATG n.362_364delinsATG n.236_238delinsATG c.166-54_166-52delinsATG (n.166-54_166-52delinsATG) | |
14 | g.90404403_90404405delinsATT | CA2579772519 | CALM1 | c.310_312delinsATT (p.Ala104Ile) c.202_204delinsATT (p.Ala68Ile) c.313_315delinsATT (p.Ala105Ile) c.182_184delinsATT (p.Ser61AsnfsTer2) c.203_205delinsATT (p.Ser68AsnfsTer2) n.2440_2442delinsATT n.362_364delinsATT n.236_238delinsATT c.166-54_166-52delinsATT (n.166-54_166-52delinsATT) | |
14 | g.90404403_90404405delinsCCG | CA2579772728 | CALM1 | c.310_312delinsCCG (p.Ala104Pro) c.202_204delinsCCG (p.Ala68Pro) c.313_315delinsCCG (p.Ala105Pro) c.182_184delinsCCG (p.Ser61_Arg62delinsThrGly) c.203_205delinsCCG (p.Ser68_Arg69delinsThrGly) n.2440_2442delinsCCG n.362_364delinsCCG n.236_238delinsCCG c.166-54_166-52delinsCCG (n.166-54_166-52delinsCCG) | |
14 | g.90404403_90404405delinsCCT | CA2579771720 | CALM1 | c.310_312delinsCCT (p.Ala104Pro) c.202_204delinsCCT (p.Ala68Pro) c.313_315delinsCCT (p.Ala105Pro) c.182_184delinsCCT (p.Ser61ThrfsTer2) c.203_205delinsCCT (p.Ser68ThrfsTer2) n.2440_2442delinsCCT n.362_364delinsCCT n.236_238delinsCCT c.166-54_166-52delinsCCT (n.166-54_166-52delinsCCT) | |
14 | g.90404403_90404405delinsCGT | CA2579771579 | CALM1 | c.310_312delinsCGT (p.Ala104Arg) c.202_204delinsCGT (p.Ala68Arg) c.313_315delinsCGT (p.Ala105Arg) c.182_184delinsCGT (p.Ser61ThrfsTer2) c.203_205delinsCGT (p.Ser68ThrfsTer2) n.2440_2442delinsCGT n.362_364delinsCGT n.236_238delinsCGT c.166-54_166-52delinsCGT (n.166-54_166-52delinsCGT) | |
14 | g.90404403_90404405delinsCTT | CA2579772875 | CALM1 | c.310_312delinsCTT (p.Ala104Leu) c.202_204delinsCTT (p.Ala68Leu) c.313_315delinsCTT (p.Ala105Leu) c.182_184delinsCTT (p.Ser61ThrfsTer2) c.203_205delinsCTT (p.Ser68ThrfsTer2) n.2440_2442delinsCTT n.362_364delinsCTT n.236_238delinsCTT c.166-54_166-52delinsCTT (n.166-54_166-52delinsCTT) | |
14 | g.90404403_90404405delinsTAT | CA2579771387 | CALM1 | c.310_312delinsTAT (p.Ala104Tyr) c.202_204delinsTAT (p.Ala68Tyr) c.313_315delinsTAT (p.Ala105Tyr) c.182_184delinsTAT (p.Ser61IlefsTer2) c.203_205delinsTAT (p.Ser68IlefsTer2) n.2440_2442delinsTAT n.362_364delinsTAT n.236_238delinsTAT c.166-54_166-52delinsTAT (n.166-54_166-52delinsTAT) | |
14 | g.90404403_90404405delinsTCG | CA2579773488 | CALM1 | c.310_312delinsTCG (p.Ala104Ser) c.202_204delinsTCG (p.Ala68Ser) c.313_315delinsTCG (p.Ala105Ser) c.182_184delinsTCG (p.Ser61_Arg62delinsIleGly) c.203_205delinsTCG (p.Ser68_Arg69delinsIleGly) n.2440_2442delinsTCG n.362_364delinsTCG n.236_238delinsTCG c.166-54_166-52delinsTCG (n.166-54_166-52delinsTCG) | |
14 | g.90404403_90404405delinsTCT | CA2579770944 | CALM1 | c.310_312delinsTCT (p.Ala104Ser) c.202_204delinsTCT (p.Ala68Ser) c.313_315delinsTCT (p.Ala105Ser) c.182_184delinsTCT (p.Ser61IlefsTer2) c.203_205delinsTCT (p.Ser68IlefsTer2) n.2440_2442delinsTCT n.362_364delinsTCT n.236_238delinsTCT c.166-54_166-52delinsTCT (n.166-54_166-52delinsTCT) | |
14 | g.90404403_90404405delinsTTG | CA2579770287 | CALM1 | c.310_312delinsTTG (p.Ala104Leu) c.202_204delinsTTG (p.Ala68Leu) c.313_315delinsTTG (p.Ala105Leu) c.182_184delinsTTG (p.Ser61_Arg62delinsIleGly) c.203_205delinsTTG (p.Ser68_Arg69delinsIleGly) n.2440_2442delinsTTG n.362_364delinsTTG n.236_238delinsTTG c.166-54_166-52delinsTTG (n.166-54_166-52delinsTTG) | |
14 | g.90404403_90404405delinsTTT | CA2579770310 | CALM1 | c.310_312delinsTTT (p.Ala104Phe) c.202_204delinsTTT (p.Ala68Phe) c.313_315delinsTTT (p.Ala105Phe) c.182_184delinsTTT (p.Ser61IlefsTer2) c.203_205delinsTTT (p.Ser68IlefsTer2) n.2440_2442delinsTTT n.362_364delinsTTT n.236_238delinsTTT c.166-54_166-52delinsTTT (n.166-54_166-52delinsTTT) | |
14 | g.90404404C>A | CA390690157 | CALM1 | c.311C>A (p.Ala104Glu) c.203C>A (p.Ala68Glu) c.314C>A (p.Ala105Glu) c.183C>A (p.Ser61Arg) c.204C>A (p.Ser68Arg) n.2441C>A n.363C>A n.237C>A c.166-53C>A (n.166-53C>A) | |
14 | g.90404404C>G | CA390690158 | CALM1 | c.311C>G (p.Ala104Gly) c.203C>G (p.Ala68Gly) c.314C>G (p.Ala105Gly) c.183C>G (p.Ser61Arg) c.204C>G (p.Ser68Arg) n.2441C>G n.363C>G n.237C>G c.166-53C>G (n.166-53C>G) | |
14 | g.90404404C>T | CA390690159 | CALM1 | c.311C>T (p.Ala104Val) c.203C>T (p.Ala68Val) c.314C>T (p.Ala105Val) c.183C>T (p.Ser61=) c.204C>T (p.Ser68=) n.2441C>T n.363C>T n.237C>T c.166-53C>T (n.166-53C>T) | gnomAD v4 |
14 | g.90404404_90404405delinsAG | CA2579771213 | CALM1 | c.311_312delinsAG (p.Ala104Glu) c.203_204delinsAG (p.Ala68Glu) c.314_315delinsAG (p.Ala105Glu) c.183_184delinsAG (p.Ser61_Arg62delinsArgGly) c.204_205delinsAG (p.Ser68_Arg69delinsArgGly) n.2441_2442delinsAG n.363_364delinsAG n.237_238delinsAG c.166-53_166-52delinsAG (n.166-53_166-52delinsAG) | |
14 | g.90404404_90404405delinsAT | CA2579772177 | CALM1 | c.311_312delinsAT (p.Ala104Asp) c.203_204delinsAT (p.Ala68Asp) c.314_315delinsAT (p.Ala105Asp) c.183_184delinsAT (p.Ser61ArgfsTer2) c.204_205delinsAT (p.Ser68ArgfsTer2) n.2441_2442delinsAT n.363_364delinsAT n.237_238delinsAT c.166-53_166-52delinsAT (n.166-53_166-52delinsAT) | |
14 | g.90404404_90404405delinsGG | CA2579770235 | CALM1 | c.311_312delinsGG (p.Ala104Gly) c.203_204delinsGG (p.Ala68Gly) c.314_315delinsGG (p.Ala105Gly) c.183_184delinsGG (p.Ser61_Arg62delinsArgGly) c.204_205delinsGG (p.Ser68_Arg69delinsArgGly) n.2441_2442delinsGG n.363_364delinsGG n.237_238delinsGG c.166-53_166-52delinsGG (n.166-53_166-52delinsGG) | |
14 | g.90404404_90404405delinsGT | CA2579773759 | CALM1 | c.311_312delinsGT (p.Ala104Gly) c.203_204delinsGT (p.Ala68Gly) c.314_315delinsGT (p.Ala105Gly) c.183_184delinsGT (p.Ser61ArgfsTer2) c.204_205delinsGT (p.Ser68ArgfsTer2) n.2441_2442delinsGT n.363_364delinsGT n.237_238delinsGT c.166-53_166-52delinsGT (n.166-53_166-52delinsGT) | |
14 | g.90404404_90404405delinsTC | CA2579772444 | CALM1 | c.311_312delinsTC (p.Ala104Val) c.203_204delinsTC (p.Ala68Val) c.314_315delinsTC (p.Ala105Val) c.183_184delinsTC (p.Ser61=) c.204_205delinsTC (p.Ser68=) n.2441_2442delinsTC n.363_364delinsTC n.237_238delinsTC c.166-53_166-52delinsTC (n.166-53_166-52delinsTC) | |
14 | g.90404404_90404405delinsTG | CA2579773602 | CALM1 | c.311_312delinsTG (p.Ala104Val) c.203_204delinsTG (p.Ala68Val) c.314_315delinsTG (p.Ala105Val) c.183_184delinsTG (p.Arg62Gly) c.204_205delinsTG (p.Arg69Gly) n.2441_2442delinsTG n.363_364delinsTG n.237_238delinsTG c.166-53_166-52delinsTG (n.166-53_166-52delinsTG) | |
14 | g.90404404_90404405delinsTT | CA2579774142 | CALM1 | c.311_312delinsTT (p.Ala104Val) c.203_204delinsTT (p.Ala68Val) c.314_315delinsTT (p.Ala105Val) c.183_184delinsTT (p.Ser62Ter) c.204_205delinsTT (p.Ser69Ter) n.2441_2442delinsTT n.363_364delinsTT n.237_238delinsTT c.166-53_166-52delinsTT (n.166-53_166-52delinsTT) | |
14 | g.90404405A>C | CA487760092 | CALM1 | c.312A>C (p.Ala104=) c.204A>C (p.Ala68=) c.315A>C (p.Ala105=) c.184A>C (p.Arg62=) c.205A>C (p.Arg69=) n.2442A>C n.364A>C n.238A>C c.166-52A>C (n.166-52A>C) | |
14 | g.90404405A>G | CA487760089 | CALM1 | c.312A>G (p.Ala104=) c.204A>G (p.Ala68=) c.315A>G (p.Ala105=) c.184A>G (p.Arg62Gly) c.205A>G (p.Arg69Gly) n.2442A>G n.364A>G n.238A>G c.166-52A>G (n.166-52A>G) | |
14 | g.90404405A>T | CA487760088 | CALM1 | c.312A>T (p.Ala104=) c.204A>T (p.Ala68=) c.315A>T (p.Ala105=) c.184A>T (p.Arg62Ter) c.205A>T (p.Arg69Ter) n.2442A>T n.364A>T n.238A>T c.166-52A>T (n.166-52A>T) | |
14 | g.90404406G>A | CA16606883 | CALM1 | c.313G>A (p.Glu105Lys) c.205G>A (p.Glu69Lys) c.316G>A (p.Glu106Lys) c.185G>A (p.Arg62Lys) c.206G>A (p.Arg69Lys) n.2443G>A n.365G>A n.239G>A c.166-51G>A (n.166-51G>A) | ClinVar dbSNP |
14 | g.90404406G>C | CA390690160 | CALM1 | c.313G>C (p.Glu105Gln) c.205G>C (p.Glu69Gln) c.316G>C (p.Glu106Gln) c.185G>C (p.Arg62Thr) c.206G>C (p.Arg69Thr) n.2443G>C n.365G>C n.239G>C c.166-51G>C (n.166-51G>C) | |
14 | g.90404406G= | CA2154484088 | CALM1 | c.313G= (p.Glu105=) c.205G= (p.Glu69=) c.316G= (p.Glu106=) c.185G= (p.Arg62=) c.206G= (p.Arg69=) n.2443G= n.365G= n.239G= c.166-51G= (n.166-51G=) | |
14 | g.90404406G>T | CA390690161 | CALM1 | c.313G>T (p.Glu105Ter) c.205G>T (p.Glu69Ter) c.316G>T (p.Glu106Ter) c.185G>T (p.Arg62Ile) c.206G>T (p.Arg69Ile) n.2443G>T n.365G>T n.239G>T c.166-51G>T (n.166-51G>T) | |
14 | g.90404406_90404407delinsAC | CA2579770890 | CALM1 | c.313_314delinsAC (p.Glu105Thr) c.205_206delinsAC (p.Glu69Thr) c.316_317delinsAC (p.Glu106Thr) c.185_186delinsAC (p.Arg62Asn) c.206_207delinsAC (p.Arg69Asn) n.2443_2444delinsAC n.365_366delinsAC n.239_240delinsAC c.166-51_166-50delinsAC (n.166-51_166-50delinsAC) | |
14 | g.90404406_90404407delinsAG | CA2579774025 | CALM1 | c.313_314delinsAG (p.Glu105Arg) c.205_206delinsAG (p.Glu69Arg) c.316_317delinsAG (p.Glu106Arg) c.185_186delinsAG (p.Arg62Lys) c.206_207delinsAG (p.Arg69Lys) n.2443_2444delinsAG n.365_366delinsAG n.239_240delinsAG c.166-51_166-50delinsAG (n.166-51_166-50delinsAG) | |
14 | g.90404406_90404407delinsCG | CA2579770273 | CALM1 | c.313_314delinsCG (p.Glu105Arg) c.205_206delinsCG (p.Glu69Arg) c.316_317delinsCG (p.Glu106Arg) c.185_186delinsCG (p.Arg62Thr) c.206_207delinsCG (p.Arg69Thr) n.2443_2444delinsCG n.365_366delinsCG n.239_240delinsCG c.166-51_166-50delinsCG (n.166-51_166-50delinsCG) | |
14 | g.90404406_90404407delinsCT | CA2579773418 | CALM1 | c.313_314delinsCT (p.Glu105Leu) c.205_206delinsCT (p.Glu69Leu) c.316_317delinsCT (p.Glu106Leu) c.185_186delinsCT (p.Arg62Thr) c.206_207delinsCT (p.Arg69Thr) n.2443_2444delinsCT n.365_366delinsCT n.239_240delinsCT c.166-51_166-50delinsCT (n.166-51_166-50delinsCT) | |
14 | g.90404406_90404407delinsTC | CA2579773306 | CALM1 | c.313_314delinsTC (p.Glu105Ser) c.205_206delinsTC (p.Glu69Ser) c.316_317delinsTC (p.Glu106Ser) c.185_186delinsTC (p.Arg62Ile) c.206_207delinsTC (p.Arg69Ile) n.2443_2444delinsTC n.365_366delinsTC n.239_240delinsTC c.166-51_166-50delinsTC (n.166-51_166-50delinsTC) | |
14 | g.90404406_90404407delinsTG | CA2579771480 | CALM1 | c.313_314delinsTG (p.Glu105Ter) c.205_206delinsTG (p.Glu69Ter) c.316_317delinsTG (p.Glu106Ter) c.185_186delinsTG (p.Arg62Met) c.206_207delinsTG (p.Arg69Met) n.2443_2444delinsTG n.365_366delinsTG n.239_240delinsTG c.166-51_166-50delinsTG (n.166-51_166-50delinsTG) | |
14 | g.90404406_90404407delinsTT | CA2579769994 | CALM1 | c.313_314delinsTT (p.Glu105Leu) c.205_206delinsTT (p.Glu69Leu) c.316_317delinsTT (p.Glu106Leu) c.185_186delinsTT (p.Arg62Ile) c.206_207delinsTT (p.Arg69Ile) n.2443_2444delinsTT n.365_366delinsTT n.239_240delinsTT c.166-51_166-50delinsTT (n.166-51_166-50delinsTT) | |
14 | g.90404406_90404408delinsAAC | CA2579774145 | CALM1 | c.313_315delinsAAC (p.Glu105Asn) c.205_207delinsAAC (p.Glu69Asn) c.316_318delinsAAC (p.Glu106Asn) c.185_187delinsAAC (p.Arg62_Thr63delinsLysPro) c.206_208delinsAAC (p.Arg69_Thr70delinsLysPro) n.2443_2445delinsAAC n.365_367delinsAAC n.239_241delinsAAC c.166-51_166-49delinsAAC (n.166-51_166-49delinsAAC) | |
14 | g.90404406_90404408delinsAAG | CA2579769932 | CALM1 | c.313_315delinsAAG (p.Glu105Lys) c.205_207delinsAAG (p.Glu69Lys) c.316_318delinsAAG (p.Glu106Lys) c.185_187delinsAAG (p.Arg62_Thr63delinsLysAla) c.206_208delinsAAG (p.Arg69_Thr70delinsLysAla) n.2443_2445delinsAAG n.365_367delinsAAG n.239_241delinsAAG c.166-51_166-49delinsAAG (n.166-51_166-49delinsAAG) | |
14 | g.90404406_90404408delinsCAT | CA2579770899 | CALM1 | c.313_315delinsCAT (p.Glu105His) c.205_207delinsCAT (p.Glu69His) c.316_318delinsCAT (p.Glu106His) c.185_187delinsCAT (p.Arg62_Thr63delinsThrSer) c.206_208delinsCAT (p.Arg69_Thr70delinsThrSer) n.2443_2445delinsCAT n.365_367delinsCAT n.239_241delinsCAT c.166-51_166-49delinsCAT (n.166-51_166-49delinsCAT) | |
14 | g.90404406_90404408delinsTAC | CA2579773284 | CALM1 | c.313_315delinsTAC (p.Glu105Tyr) c.205_207delinsTAC (p.Glu69Tyr) c.316_318delinsTAC (p.Glu106Tyr) c.185_187delinsTAC (p.Arg62_Thr63delinsIlePro) c.206_208delinsTAC (p.Arg69_Thr70delinsIlePro) n.2443_2445delinsTAC n.365_367delinsTAC n.239_241delinsTAC c.166-51_166-49delinsTAC (n.166-51_166-49delinsTAC) | |
14 | g.90404406_90404408delinsTAG | CA2579773598 | CALM1 | c.313_315delinsTAG (p.Glu105Ter) c.205_207delinsTAG (p.Glu69Ter) c.316_318delinsTAG (p.Glu106Ter) c.185_187delinsTAG (p.Arg62_Thr63delinsIleAla) c.206_208delinsTAG (p.Arg69_Thr70delinsIleAla) n.2443_2445delinsTAG n.365_367delinsTAG n.239_241delinsTAG c.166-51_166-49delinsTAG (n.166-51_166-49delinsTAG) | |
14 | g.90404406_90404408delinsTAT | CA2579772572 | CALM1 | c.313_315delinsTAT (p.Glu105Tyr) c.205_207delinsTAT (p.Glu69Tyr) c.316_318delinsTAT (p.Glu106Tyr) c.185_187delinsTAT (p.Arg62_Thr63delinsIleSer) c.206_208delinsTAT (p.Arg69_Thr70delinsIleSer) n.2443_2445delinsTAT n.365_367delinsTAT n.239_241delinsTAT c.166-51_166-49delinsTAT (n.166-51_166-49delinsTAT) | |
14 | g.90404406_90404408delinsTTT | CA2579772850 | CALM1 | c.313_315delinsTTT (p.Glu105Phe) c.205_207delinsTTT (p.Glu69Phe) c.316_318delinsTTT (p.Glu106Phe) c.185_187delinsTTT (p.Arg62_Thr63delinsIleSer) c.206_208delinsTTT (p.Arg69_Thr70delinsIleSer) n.2443_2445delinsTTT n.365_367delinsTTT n.239_241delinsTTT c.166-51_166-49delinsTTT (n.166-51_166-49delinsTTT) | |
14 | g.90404407A>C | CA390690164 | CALM1 | c.314A>C (p.Glu105Ala) c.206A>C (p.Glu69Ala) c.317A>C (p.Glu106Ala) c.186A>C (p.Arg62Ser) c.207A>C (p.Arg69Ser) n.2444A>C n.366A>C n.240A>C c.166-50A>C (n.166-50A>C) | |
14 | g.90404407A>G | CA390690162 | CALM1 | c.314A>G (p.Glu105Gly) c.206A>G (p.Glu69Gly) c.317A>G (p.Glu106Gly) c.186A>G (p.Arg62=) c.207A>G (p.Arg69=) n.2444A>G n.366A>G n.240A>G c.166-50A>G (n.166-50A>G) | |
14 | g.90404407A>T | CA390690163 | CALM1 | c.314A>T (p.Glu105Val) c.206A>T (p.Glu69Val) c.317A>T (p.Glu106Val) c.186A>T (p.Arg62Ser) c.207A>T (p.Arg69Ser) n.2444A>T n.366A>T n.240A>T c.166-50A>T (n.166-50A>T) | |
14 | g.90404407_90404408delinsCG | CA2579773735 | CALM1 | c.314_315delinsCG (p.Glu105Ala) c.206_207delinsCG (p.Glu69Ala) c.317_318delinsCG (p.Glu106Ala) c.186_187delinsCG (p.Arg62_Thr63delinsSerAla) c.207_208delinsCG (p.Arg69_Thr70delinsSerAla) n.2444_2445delinsCG n.366_367delinsCG n.240_241delinsCG c.166-50_166-49delinsCG (n.166-50_166-49delinsCG) | |
14 | g.90404407_90404408delinsGG | CA2579772604 | CALM1 | c.314_315delinsGG (p.Glu105Gly) c.206_207delinsGG (p.Glu69Gly) c.317_318delinsGG (p.Glu106Gly) c.186_187delinsGG (p.Thr63Ala) c.207_208delinsGG (p.Thr70Ala) n.2444_2445delinsGG n.366_367delinsGG n.240_241delinsGG c.166-50_166-49delinsGG (n.166-50_166-49delinsGG) | |
14 | g.90404407_90404408delinsGT | CA2579773692 | CALM1 | c.314_315delinsGT (p.Glu105Gly) c.206_207delinsGT (p.Glu69Gly) c.317_318delinsGT (p.Glu106Gly) c.186_187delinsGT (p.Thr63Ser) c.207_208delinsGT (p.Thr70Ser) n.2444_2445delinsGT n.366_367delinsGT n.240_241delinsGT c.166-50_166-49delinsGT (n.166-50_166-49delinsGT) | |
14 | g.90404407_90404408delinsTC | CA2579769818 | CALM1 | c.314_315delinsTC (p.Glu105Val) c.206_207delinsTC (p.Glu69Val) c.317_318delinsTC (p.Glu106Val) c.186_187delinsTC (p.Arg62_Thr63delinsSerPro) c.207_208delinsTC (p.Arg69_Thr70delinsSerPro) n.2444_2445delinsTC n.366_367delinsTC n.240_241delinsTC c.166-50_166-49delinsTC (n.166-50_166-49delinsTC) | |
14 | g.90404407_90404408delinsTG | CA2579771553 | CALM1 | c.314_315delinsTG (p.Glu105Val) c.206_207delinsTG (p.Glu69Val) c.317_318delinsTG (p.Glu106Val) c.186_187delinsTG (p.Arg62_Thr63delinsSerAla) c.207_208delinsTG (p.Arg69_Thr70delinsSerAla) n.2444_2445delinsTG n.366_367delinsTG n.240_241delinsTG c.166-50_166-49delinsTG (n.166-50_166-49delinsTG) | |
14 | g.90404407_90404408delinsTT | CA2579772642 | CALM1 | c.314_315delinsTT (p.Glu105Val) c.206_207delinsTT (p.Glu69Val) c.317_318delinsTT (p.Glu106Val) c.186_187delinsTT (p.Arg62_Thr63delinsSerSer) c.207_208delinsTT (p.Arg69_Thr70delinsSerSer) n.2444_2445delinsTT n.366_367delinsTT n.240_241delinsTT c.166-50_166-49delinsTT (n.166-50_166-49delinsTT) | |
14 | g.90404408A>C | CA390690165 | CALM1 | c.315A>C (p.Glu105Asp) c.207A>C (p.Glu69Asp) c.318A>C (p.Glu106Asp) c.187A>C (p.Thr63Pro) c.208A>C (p.Thr70Pro) n.2445A>C n.367A>C n.241A>C c.166-49A>C (n.166-49A>C) | |
14 | g.90404408A>G | CA487760102 | CALM1 | c.315A>G (p.Glu105=) c.207A>G (p.Glu69=) c.318A>G (p.Glu106=) c.187A>G (p.Thr63Ala) c.208A>G (p.Thr70Ala) n.2445A>G n.367A>G n.241A>G c.166-49A>G (n.166-49A>G) | |
14 | g.90404408A>T | CA390690166 | CALM1 | c.315A>T (p.Glu105Asp) c.207A>T (p.Glu69Asp) c.318A>T (p.Glu106Asp) c.187A>T (p.Thr63Ser) c.208A>T (p.Thr70Ser) n.2445A>T n.367A>T n.241A>T c.166-49A>T (n.166-49A>T) | |
14 | g.90404409C>A | CA390690167 | CALM1 | c.316C>A (p.Leu106Ile) c.208C>A (p.Leu70Ile) c.319C>A (p.Leu107Ile) c.188C>A (p.Thr63Asn) c.209C>A (p.Thr70Asn) n.2446C>A n.368C>A n.242C>A c.166-48C>A (n.166-48C>A) | |
14 | g.90404409C>G | CA390690168 | CALM1 | c.316C>G (p.Leu106Val) c.208C>G (p.Leu70Val) c.319C>G (p.Leu107Val) c.188C>G (p.Thr63Ser) c.209C>G (p.Thr70Ser) n.2446C>G n.368C>G n.242C>G c.166-48C>G (n.166-48C>G) | |
14 | g.90404409C>T | CA487760106 | CALM1 | c.316C>T (p.Leu106=) c.208C>T (p.Leu70=) c.319C>T (p.Leu107=) c.188C>T (p.Thr63Ile) c.209C>T (p.Thr70Ile) n.2446C>T n.368C>T n.242C>T c.166-48C>T (n.166-48C>T) | |
14 | g.90404409_90404410delinsAA | CA2579771514 | CALM1 | c.316_317delinsAA (p.Leu106Lys) c.208_209delinsAA (p.Leu70Lys) c.319_320delinsAA (p.Leu107Lys) c.188_189delinsAA (p.Thr63Lys) c.209_210delinsAA (p.Thr70Lys) n.2446_2447delinsAA n.368_369delinsAA n.242_243delinsAA c.166-48_166-47delinsAA (n.166-48_166-47delinsAA) | |
14 | g.90404409_90404410delinsAC | CA2579770749 | CALM1 | c.316_317delinsAC (p.Leu106Thr) c.208_209delinsAC (p.Leu70Thr) c.319_320delinsAC (p.Leu107Thr) c.188_189delinsAC (p.Thr63Asn) c.209_210delinsAC (p.Thr70Asn) n.2446_2447delinsAC n.368_369delinsAC n.242_243delinsAC c.166-48_166-47delinsAC (n.166-48_166-47delinsAC) | |
14 | g.90404409_90404410delinsTA | CA2579771888 | CALM1 | c.316_317delinsTA (p.Leu106Ter) c.208_209delinsTA (p.Leu70Ter) c.319_320delinsTA (p.Leu107Ter) c.188_189delinsTA (p.Thr63Ile) c.209_210delinsTA (p.Thr70Ile) n.2446_2447delinsTA n.368_369delinsTA n.242_243delinsTA c.166-48_166-47delinsTA (n.166-48_166-47delinsTA) | |
14 | g.90404409_90404410delinsTC | CA2579772284 | CALM1 | c.316_317delinsTC (p.Leu106Ser) c.208_209delinsTC (p.Leu70Ser) c.319_320delinsTC (p.Leu107Ser) c.188_189delinsTC (p.Thr63Ile) c.209_210delinsTC (p.Thr70Ile) n.2446_2447delinsTC n.368_369delinsTC n.242_243delinsTC c.166-48_166-47delinsTC (n.166-48_166-47delinsTC) | |
14 | g.90404409_90404410delinsTG | CA2579771167 | CALM1 | c.316_317delinsTG (p.Leu106Ter) c.208_209delinsTG (p.Leu70Ter) c.319_320delinsTG (p.Leu107Ter) c.188_189delinsTG (p.Thr63Met) c.209_210delinsTG (p.Thr70Met) n.2446_2447delinsTG n.368_369delinsTG n.242_243delinsTG c.166-48_166-47delinsTG (n.166-48_166-47delinsTG) | |
14 | g.90404409_90404411delinsAAT | CA2579773644 | CALM1 | c.316_318delinsAAT (p.Leu106Asn) c.208_210delinsAAT (p.Leu70Asn) c.319_321delinsAAT (p.Leu107Asn) c.188_190delinsAAT (p.Thr63_Thr64delinsLysSer) c.209_211delinsAAT (p.Thr70_Thr71delinsLysSer) n.2446_2448delinsAAT n.368_370delinsAAT n.242_244delinsAAT c.166-48_166-46delinsAAT (n.166-48_166-46delinsAAT) | |
14 | g.90404409_90404411delinsATG | CA2579770200 | CALM1 | c.316_318delinsATG (p.Leu106Met) c.208_210delinsATG (p.Leu70Met) c.319_321delinsATG (p.Leu107Met) c.188_190delinsATG (p.Thr63_Thr64delinsAsnAla) c.209_211delinsATG (p.Thr70_Thr71delinsAsnAla) n.2446_2448delinsATG n.368_370delinsATG n.242_244delinsATG c.166-48_166-46delinsATG (n.166-48_166-46delinsATG) | |
14 | g.90404409_90404411delinsATT | CA2579771668 | CALM1 | c.316_318delinsATT (p.Leu106Ile) c.208_210delinsATT (p.Leu70Ile) c.319_321delinsATT (p.Leu107Ile) c.188_190delinsATT (p.Thr63_Thr64delinsAsnSer) c.209_211delinsATT (p.Thr70_Thr71delinsAsnSer) n.2446_2448delinsATT n.368_370delinsATT n.242_244delinsATT c.166-48_166-46delinsATT (n.166-48_166-46delinsATT) | |
14 | g.90404409_90404411delinsGAT | CA2579772452 | CALM1 | c.316_318delinsGAT (p.Leu106Asp) c.208_210delinsGAT (p.Leu70Asp) c.319_321delinsGAT (p.Leu107Asp) c.188_190delinsGAT (p.Thr63_Thr64delinsArgSer) c.209_211delinsGAT (p.Thr70_Thr71delinsArgSer) n.2446_2448delinsGAT n.368_370delinsGAT n.242_244delinsGAT c.166-48_166-46delinsGAT (n.166-48_166-46delinsGAT) | |
14 | g.90404409_90404411delinsTCG | CA2579770783 | CALM1 | c.316_318delinsTCG (p.Leu106Ser) c.208_210delinsTCG (p.Leu70Ser) c.319_321delinsTCG (p.Leu107Ser) c.188_190delinsTCG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTCG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTCG n.368_370delinsTCG n.242_244delinsTCG c.166-48_166-46delinsTCG (n.166-48_166-46delinsTCG) | |
14 | g.90404409_90404411delinsTGG | CA2579771539 | CALM1 | c.316_318delinsTGG (p.Leu106Trp) c.208_210delinsTGG (p.Leu70Trp) c.319_321delinsTGG (p.Leu107Trp) c.188_190delinsTGG (p.Thr63_Thr64delinsMetAla) c.209_211delinsTGG (p.Thr70_Thr71delinsMetAla) n.2446_2448delinsTGG n.368_370delinsTGG n.242_244delinsTGG c.166-48_166-46delinsTGG (n.166-48_166-46delinsTGG) | |
14 | g.90404409_90404411delinsTGT | CA2579769989 | CALM1 | c.316_318delinsTGT (p.Leu106Cys) c.208_210delinsTGT (p.Leu70Cys) c.319_321delinsTGT (p.Leu107Cys) c.188_190delinsTGT (p.Thr63_Thr64delinsMetSer) c.209_211delinsTGT (p.Thr70_Thr71delinsMetSer) n.2446_2448delinsTGT n.368_370delinsTGT n.242_244delinsTGT c.166-48_166-46delinsTGT (n.166-48_166-46delinsTGT) | |
14 | g.90404409_90404411delinsTTG | CA2579770242 | CALM1 | c.316_318delinsTTG (p.Leu106=) c.208_210delinsTTG (p.Leu70=) c.319_321delinsTTG (p.Leu107=) c.188_190delinsTTG (p.Thr63_Thr64delinsIleAla) c.209_211delinsTTG (p.Thr70_Thr71delinsIleAla) n.2446_2448delinsTTG n.368_370delinsTTG n.242_244delinsTTG c.166-48_166-46delinsTTG (n.166-48_166-46delinsTTG) | |
14 | g.90404409_90404411delinsTTT | CA2579772052 | CALM1 | c.316_318delinsTTT (p.Leu106Phe) c.208_210delinsTTT (p.Leu70Phe) c.319_321delinsTTT (p.Leu107Phe) c.188_190delinsTTT (p.Thr63_Thr64delinsIleSer) c.209_211delinsTTT (p.Thr70_Thr71delinsIleSer) n.2446_2448delinsTTT n.368_370delinsTTT n.242_244delinsTTT c.166-48_166-46delinsTTT (n.166-48_166-46delinsTTT) | |
14 | g.90404410T>A | CA390690169 | CALM1 | c.317T>A (p.Leu106Gln) c.209T>A (p.Leu70Gln) c.320T>A (p.Leu107Gln) c.189T>A (p.Thr63=) c.210T>A (p.Thr70=) n.2447T>A n.369T>A n.243T>A c.166-47T>A (n.166-47T>A) | |
14 | g.90404410T>C | CA390690170 | CALM1 | c.317T>C (p.Leu106Pro) c.209T>C (p.Leu70Pro) c.320T>C (p.Leu107Pro) c.189T>C (p.Thr63=) c.210T>C (p.Thr70=) n.2447T>C n.369T>C n.243T>C c.166-47T>C (n.166-47T>C) | |
14 | g.90404410T>G | CA390690171 | CALM1 | c.317T>G (p.Leu106Arg) c.209T>G (p.Leu70Arg) c.320T>G (p.Leu107Arg) c.189T>G (p.Thr63=) c.210T>G (p.Thr70=) n.2447T>G n.369T>G n.243T>G c.166-47T>G (n.166-47T>G) | |
14 | g.90404410_90404411delinsAC | CA2579771688 | CALM1 | c.317_318delinsAC (p.Leu106His) c.209_210delinsAC (p.Leu70His) c.320_321delinsAC (p.Leu107His) c.189_190delinsAC (p.Thr64Pro) c.210_211delinsAC (p.Thr71Pro) n.2447_2448delinsAC n.369_370delinsAC n.243_244delinsAC c.166-47_166-46delinsAC (n.166-47_166-46delinsAC) | |
14 | g.90404410_90404411delinsAG | CA2579772069 | CALM1 | c.317_318delinsAG (p.Leu106Gln) c.209_210delinsAG (p.Leu70Gln) c.320_321delinsAG (p.Leu107Gln) c.189_190delinsAG (p.Thr64Ala) c.210_211delinsAG (p.Thr71Ala) n.2447_2448delinsAG n.369_370delinsAG n.243_244delinsAG c.166-47_166-46delinsAG (n.166-47_166-46delinsAG) | |
14 | g.90404410_90404411delinsAT | CA2579770631 | CALM1 | c.317_318delinsAT (p.Leu106His) c.209_210delinsAT (p.Leu70His) c.320_321delinsAT (p.Leu107His) c.189_190delinsAT (p.Thr64Ser) c.210_211delinsAT (p.Thr71Ser) n.2447_2448delinsAT n.369_370delinsAT n.243_244delinsAT c.166-47_166-46delinsAT (n.166-47_166-46delinsAT) | |
14 | g.90404410_90404411delinsCG | CA2579772151 | CALM1 | c.317_318delinsCG (p.Leu106Pro) c.209_210delinsCG (p.Leu70Pro) c.320_321delinsCG (p.Leu107Pro) c.189_190delinsCG (p.Thr64Ala) c.210_211delinsCG (p.Thr71Ala) n.2447_2448delinsCG n.369_370delinsCG n.243_244delinsCG c.166-47_166-46delinsCG (n.166-47_166-46delinsCG) | |
14 | g.90404410_90404411delinsCT | CA2579773927 | CALM1 | c.317_318delinsCT (p.Leu106Pro) c.209_210delinsCT (p.Leu70Pro) c.320_321delinsCT (p.Leu107Pro) c.189_190delinsCT (p.Thr64Ser) c.210_211delinsCT (p.Thr71Ser) n.2447_2448delinsCT n.369_370delinsCT n.243_244delinsCT c.166-47_166-46delinsCT (n.166-47_166-46delinsCT) | |
14 | g.90404410_90404411delinsGG | CA2579773749 | CALM1 | c.317_318delinsGG (p.Leu106Arg) c.209_210delinsGG (p.Leu70Arg) c.320_321delinsGG (p.Leu107Arg) c.189_190delinsGG (p.Thr64Ala) c.210_211delinsGG (p.Thr71Ala) n.2447_2448delinsGG n.369_370delinsGG n.243_244delinsGG c.166-47_166-46delinsGG (n.166-47_166-46delinsGG) | |
14 | g.90404410_90404411delinsGT | CA2579769926 | CALM1 | c.317_318delinsGT (p.Leu106Arg) c.209_210delinsGT (p.Leu70Arg) c.320_321delinsGT (p.Leu107Arg) c.189_190delinsGT (p.Thr64Ser) c.210_211delinsGT (p.Thr71Ser) n.2447_2448delinsGT n.369_370delinsGT n.243_244delinsGT c.166-47_166-46delinsGT (n.166-47_166-46delinsGT) | |
14 | g.90404411A= | CA2154484092 | CALM1 | c.318A= (p.Leu106=) c.210A= (p.Leu70=) c.321A= (p.Leu107=) c.190A= (p.Thr64=) c.211A= (p.Thr71=) n.2448A= n.370A= n.244A= c.166-46A= (n.166-46A=) | |
14 | g.90404411A>C | CA487760112 | CALM1 | c.318A>C (p.Leu106=) c.210A>C (p.Leu70=) c.321A>C (p.Leu107=) c.190A>C (p.Thr64Pro) c.211A>C (p.Thr71Pro) n.2448A>C n.370A>C n.244A>C c.166-46A>C (n.166-46A>C) | |
14 | g.90404411A>G | CA487760114 | CALM1 | c.318A>G (p.Leu106=) c.210A>G (p.Leu70=) c.321A>G (p.Leu107=) c.190A>G (p.Thr64Ala) c.211A>G (p.Thr71Ala) n.2448A>G n.370A>G n.244A>G c.166-46A>G (n.166-46A>G) | ClinVar |
14 | g.90404411A>T | CA487760116 | CALM1 | c.318A>T (p.Leu106=) c.210A>T (p.Leu70=) c.321A>T (p.Leu107=) c.190A>T (p.Thr64Ser) c.211A>T (p.Thr71Ser) n.2448A>T n.370A>T n.244A>T c.166-46A>T (n.166-46A>T) | dbSNP |
14 | g.90404412C>A | CA390690172 | CALM1 | c.319C>A (p.Arg107Ser) c.211C>A (p.Arg71Ser) c.322C>A (p.Arg108Ser) c.191C>A (p.Thr64Lys) c.212C>A (p.Thr71Lys) n.2449C>A n.371C>A n.245C>A c.166-45C>A (n.166-45C>A) | |
14 | g.90404412C= | CA2154484097 | CALM1 | c.319C= (p.Arg107=) c.211C= (p.Arg71=) c.322C= (p.Arg108=) c.191C= (p.Thr64=) c.212C= (p.Thr71=) n.2449C= n.371C= n.245C= c.166-45C= (n.166-45C=) | |
14 | g.90404412C>G | CA390690173 | CALM1 | c.319C>G (p.Arg107Gly) c.211C>G (p.Arg71Gly) c.322C>G (p.Arg108Gly) c.191C>G (p.Thr64Arg) c.212C>G (p.Thr71Arg) n.2449C>G n.371C>G n.245C>G c.166-45C>G (n.166-45C>G) | |
14 | g.90404412C>T | CA7305796 | CALM1 | c.319C>T (p.Arg107Cys) c.211C>T (p.Arg71Cys) c.322C>T (p.Arg108Cys) c.191C>T (p.Thr64Met) c.212C>T (p.Thr71Met) n.2449C>T n.371C>T n.245C>T c.166-45C>T (n.166-45C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
14 | g.90404412_90404413delinsAA | CA2579773956 | CALM1 | c.319_320delinsAA (p.Arg107Asn) c.211_212delinsAA (p.Arg71Asn) c.322_323delinsAA (p.Arg108Asn) c.191_192delinsAA (p.Thr64Lys) c.212_213delinsAA (p.Thr71Lys) n.2449_2450delinsAA n.371_372delinsAA n.245_246delinsAA c.166-45_166-44delinsAA (n.166-45_166-44delinsAA) | |
14 | g.90404412_90404413delinsAC | CA2579770363 | CALM1 | c.319_320delinsAC (p.Arg107Thr) c.211_212delinsAC (p.Arg71Thr) c.322_323delinsAC (p.Arg108Thr) c.191_192delinsAC (p.Thr64Asn) c.212_213delinsAC (p.Thr71Asn) n.2449_2450delinsAC n.371_372delinsAC n.245_246delinsAC c.166-45_166-44delinsAC (n.166-45_166-44delinsAC) | |
14 | g.90404412_90404413delinsAT | CA2579771719 | CALM1 | c.319_320delinsAT (p.Arg107Ile) c.211_212delinsAT (p.Arg71Ile) c.322_323delinsAT (p.Arg108Ile) c.191_192delinsAT (p.Thr64Asn) c.212_213delinsAT (p.Thr71Asn) n.2449_2450delinsAT n.371_372delinsAT n.245_246delinsAT c.166-45_166-44delinsAT (n.166-45_166-44delinsAT) | |
14 | g.90404412_90404413delinsGA | CA2579773584 | CALM1 | c.319_320delinsGA (p.Arg107Asp) c.211_212delinsGA (p.Arg71Asp) c.322_323delinsGA (p.Arg108Asp) c.191_192delinsGA (p.Thr64Arg) c.212_213delinsGA (p.Thr71Arg) n.2449_2450delinsGA n.371_372delinsGA n.245_246delinsGA c.166-45_166-44delinsGA (n.166-45_166-44delinsGA) | |
14 | g.90404412_90404413delinsGC | CA2579773879 | CALM1 | c.319_320delinsGC (p.Arg107Ala) c.211_212delinsGC (p.Arg71Ala) c.322_323delinsGC (p.Arg108Ala) c.191_192delinsGC (p.Thr64Ser) c.212_213delinsGC (p.Thr71Ser) n.2449_2450delinsGC n.371_372delinsGC n.245_246delinsGC c.166-45_166-44delinsGC (n.166-45_166-44delinsGC) | |
14 | g.90404412_90404413delinsGT | CA2579773758 | CALM1 | c.319_320delinsGT (p.Arg107Val) c.211_212delinsGT (p.Arg71Val) c.322_323delinsGT (p.Arg108Val) c.191_192delinsGT (p.Thr64Ser) c.212_213delinsGT (p.Thr71Ser) n.2449_2450delinsGT n.371_372delinsGT n.245_246delinsGT c.166-45_166-44delinsGT (n.166-45_166-44delinsGT) | |
14 | g.90404412_90404413delinsTA | CA2579771995 | CALM1 | c.319_320delinsTA (p.Arg107Tyr) c.211_212delinsTA (p.Arg71Tyr) c.322_323delinsTA (p.Arg108Tyr) c.191_192delinsTA (p.Thr64Ile) c.212_213delinsTA (p.Thr71Ile) n.2449_2450delinsTA n.371_372delinsTA n.245_246delinsTA c.166-45_166-44delinsTA (n.166-45_166-44delinsTA) | |
14 | g.90404412_90404413delinsTC | CA2579769995 | CALM1 | c.319_320delinsTC (p.Arg107Ser) c.211_212delinsTC (p.Arg71Ser) c.322_323delinsTC (p.Arg108Ser) c.191_192delinsTC (p.Thr64Ile) c.212_213delinsTC (p.Thr71Ile) n.2449_2450delinsTC n.371_372delinsTC n.245_246delinsTC c.166-45_166-44delinsTC (n.166-45_166-44delinsTC) | |
14 | g.90404412_90404413delinsTT | CA2579771706 | CALM1 | c.319_320delinsTT (p.Arg107Phe) c.211_212delinsTT (p.Arg71Phe) c.322_323delinsTT (p.Arg108Phe) c.191_192delinsTT (p.Thr64Ile) c.212_213delinsTT (p.Thr71Ile) n.2449_2450delinsTT n.371_372delinsTT n.245_246delinsTT c.166-45_166-44delinsTT (n.166-45_166-44delinsTT) | |
14 | g.90404412_90404414delinsAAG | CA2579771603 | CALM1 | c.319_321delinsAAG (p.Arg107Lys) c.211_213delinsAAG (p.Arg71Lys) c.322_324delinsAAG (p.Arg108Lys) c.191_193delinsAAG (p.Thr64_Ser65delinsLysAla) c.212_214delinsAAG (p.Thr71_Ser72delinsLysAla) n.2449_2451delinsAAG n.371_373delinsAAG n.245_247delinsAAG c.166-45_166-43delinsAAG (n.166-45_166-43delinsAAG) | |
14 | g.90404412_90404414delinsAGA | CA2579770984 | CALM1 | c.319_321delinsAGA (p.Arg107=) c.211_213delinsAGA (p.Arg71=) c.322_324delinsAGA (p.Arg108=) c.191_193delinsAGA (p.Thr64_Ser65delinsLysThr) c.212_214delinsAGA (p.Thr71_Ser72delinsLysThr) n.2449_2451delinsAGA n.371_373delinsAGA n.245_247delinsAGA c.166-45_166-43delinsAGA (n.166-45_166-43delinsAGA) | |
14 | g.90404412_90404414delinsAGC | CA2579772432 | CALM1 | c.319_321delinsAGC (p.Arg107Ser) c.211_213delinsAGC (p.Arg71Ser) c.322_324delinsAGC (p.Arg108Ser) c.191_193delinsAGC (p.Thr64_Ser65delinsLysPro) c.212_214delinsAGC (p.Thr71_Ser72delinsLysPro) n.2449_2451delinsAGC n.371_373delinsAGC n.245_247delinsAGC c.166-45_166-43delinsAGC (n.166-45_166-43delinsAGC) | |
14 | g.90404412_90404414delinsAGG | CA2579770433 | CALM1 | c.319_321delinsAGG (p.Arg107=) c.211_213delinsAGG (p.Arg71=) c.322_324delinsAGG (p.Arg108=) c.191_193delinsAGG (p.Thr64_Ser65delinsLysAla) c.212_214delinsAGG (p.Thr71_Ser72delinsLysAla) n.2449_2451delinsAGG n.371_373delinsAGG n.245_247delinsAGG c.166-45_166-43delinsAGG (n.166-45_166-43delinsAGG) | |
14 | g.90404412_90404414delinsATG | CA2579771349 | CALM1 | c.319_321delinsATG (p.Arg107Met) c.211_213delinsATG (p.Arg71Met) c.322_324delinsATG (p.Arg108Met) c.191_193delinsATG (p.Thr64_Ser65delinsAsnAla) c.212_214delinsATG (p.Thr71_Ser72delinsAsnAla) n.2449_2451delinsATG n.371_373delinsATG n.245_247delinsATG c.166-45_166-43delinsATG (n.166-45_166-43delinsATG) | |
14 | g.90404412_90404414delinsGAG | CA2579774260 | CALM1 | c.319_321delinsGAG (p.Arg107Glu) c.211_213delinsGAG (p.Arg71Glu) c.322_324delinsGAG (p.Arg108Glu) c.191_193delinsGAG (p.Thr64_Ser65delinsArgAla) c.212_214delinsGAG (p.Thr71_Ser72delinsArgAla) n.2449_2451delinsGAG n.371_373delinsGAG n.245_247delinsGAG c.166-45_166-43delinsGAG (n.166-45_166-43delinsGAG) | |
14 | g.90404412_90404414delinsGGG | CA2579772421 | CALM1 | c.319_321delinsGGG (p.Arg107Gly) c.211_213delinsGGG (p.Arg71Gly) c.322_324delinsGGG (p.Arg108Gly) c.191_193delinsGGG (p.Thr64_Ser65delinsArgAla) c.212_214delinsGGG (p.Thr71_Ser72delinsArgAla) n.2449_2451delinsGGG n.371_373delinsGGG n.245_247delinsGGG c.166-45_166-43delinsGGG (n.166-45_166-43delinsGGG) | |
14 | g.90404412_90404414delinsTAG | CA2579771377 | CALM1 | c.319_321delinsTAG (p.Arg107Ter) c.211_213delinsTAG (p.Arg71Ter) c.322_324delinsTAG (p.Arg108Ter) c.191_193delinsTAG (p.Thr64_Ser65delinsIleAla) c.212_214delinsTAG (p.Thr71_Ser72delinsIleAla) n.2449_2451delinsTAG n.371_373delinsTAG n.245_247delinsTAG c.166-45_166-43delinsTAG (n.166-45_166-43delinsTAG) | |
14 | g.90404412_90404414delinsTGA | CA2579770044 | CALM1 | c.319_321delinsTGA (p.Arg107Ter) c.211_213delinsTGA (p.Arg71Ter) c.322_324delinsTGA (p.Arg108Ter) c.191_193delinsTGA (p.Thr64_Ser65delinsMetThr) c.212_214delinsTGA (p.Thr71_Ser72delinsMetThr) n.2449_2451delinsTGA n.371_373delinsTGA n.245_247delinsTGA c.166-45_166-43delinsTGA (n.166-45_166-43delinsTGA) | |
14 | g.90404412_90404414delinsTGC | CA2579771469 | CALM1 | c.319_321delinsTGC (p.Arg107Cys) c.211_213delinsTGC (p.Arg71Cys) c.322_324delinsTGC (p.Arg108Cys) c.191_193delinsTGC (p.Thr64_Ser65delinsMetPro) c.212_214delinsTGC (p.Thr71_Ser72delinsMetPro) n.2449_2451delinsTGC n.371_373delinsTGC n.245_247delinsTGC c.166-45_166-43delinsTGC (n.166-45_166-43delinsTGC) | |
14 | g.90404412_90404414delinsTGG | CA2579770519 | CALM1 | c.319_321delinsTGG (p.Arg107Trp) c.211_213delinsTGG (p.Arg71Trp) c.322_324delinsTGG (p.Arg108Trp) c.191_193delinsTGG (p.Thr64_Ser65delinsMetAla) c.212_214delinsTGG (p.Thr71_Ser72delinsMetAla) n.2449_2451delinsTGG n.371_373delinsTGG n.245_247delinsTGG c.166-45_166-43delinsTGG (n.166-45_166-43delinsTGG) | |
14 | g.90404412_90404414delinsTTG | CA2579773951 | CALM1 | c.319_321delinsTTG (p.Arg107Leu) c.211_213delinsTTG (p.Arg71Leu) c.322_324delinsTTG (p.Arg108Leu) c.191_193delinsTTG (p.Thr64_Ser65delinsIleAla) c.212_214delinsTTG (p.Thr71_Ser72delinsIleAla) n.2449_2451delinsTTG n.371_373delinsTTG n.245_247delinsTTG c.166-45_166-43delinsTTG (n.166-45_166-43delinsTTG) | |
14 | g.90404412_90404413insA | CA2536575193 | CALM1 | c.319_320insA (p.Arg107GlnfsTer14) c.211_212insA (p.Arg71GlnfsTer14) c.322_323insA (p.Arg108GlnfsTer14) c.191_192insA (p.Ser65ValfsTer4) c.212_213insA (p.Ser72ValfsTer4) n.2449_2450insA n.371_372insA n.245_246insA c.166-45_166-44insA (n.166-45_166-44insA) | |
14 | g.90404413G>A | CA390690176 | CALM1 | c.320G>A (p.Arg107His) c.212G>A (p.Arg71His) c.323G>A (p.Arg108His) c.192G>A (p.Thr64=) c.213G>A (p.Thr71=) n.2450G>A n.372G>A n.246G>A c.166-44G>A (n.166-44G>A) | COSMIC |
14 | g.90404413G>C | CA390690175 | CALM1 | c.320G>C (p.Arg107Pro) c.212G>C (p.Arg71Pro) c.323G>C (p.Arg108Pro) c.192G>C (p.Thr64=) c.213G>C (p.Thr71=) n.2450G>C n.372G>C n.246G>C c.166-44G>C (n.166-44G>C) | |
14 | g.90404413G>T | CA390690174 | CALM1 | c.320G>T (p.Arg107Leu) c.212G>T (p.Arg71Leu) c.323G>T (p.Arg108Leu) c.192G>T (p.Thr64=) c.213G>T (p.Thr71=) n.2450G>T n.372G>T n.246G>T c.166-44G>T (n.166-44G>T) | |
14 | g.90404413_90404414delinsAA | CA2579772233 | CALM1 | c.320_321delinsAA (p.Arg107Gln) c.212_213delinsAA (p.Arg71Gln) c.323_324delinsAA (p.Arg108Gln) c.192_193delinsAA (p.Ser65Thr) c.213_214delinsAA (p.Ser72Thr) n.2450_2451delinsAA n.372_373delinsAA n.246_247delinsAA c.166-44_166-43delinsAA (n.166-44_166-43delinsAA) | |
14 | g.90404413_90404414delinsAC | CA2579772648 | CALM1 | c.320_321delinsAC (p.Arg107His) c.212_213delinsAC (p.Arg71His) c.323_324delinsAC (p.Arg108His) c.192_193delinsAC (p.Ser65Pro) c.213_214delinsAC (p.Ser72Pro) n.2450_2451delinsAC n.372_373delinsAC n.246_247delinsAC c.166-44_166-43delinsAC (n.166-44_166-43delinsAC) | |
14 | g.90404413_90404414delinsAG | CA2579771243 | CALM1 | c.320_321delinsAG (p.Arg107Gln) c.212_213delinsAG (p.Arg71Gln) c.323_324delinsAG (p.Arg108Gln) c.192_193delinsAG (p.Ser65Ala) c.213_214delinsAG (p.Ser72Ala) n.2450_2451delinsAG n.372_373delinsAG n.246_247delinsAG c.166-44_166-43delinsAG (n.166-44_166-43delinsAG) | |
14 | g.90404413_90404414delinsCG | CA2579772031 | CALM1 | c.320_321delinsCG (p.Arg107Pro) c.212_213delinsCG (p.Arg71Pro) c.323_324delinsCG (p.Arg108Pro) c.192_193delinsCG (p.Ser65Ala) c.213_214delinsCG (p.Ser72Ala) n.2450_2451delinsCG n.372_373delinsCG n.246_247delinsCG c.166-44_166-43delinsCG (n.166-44_166-43delinsCG) | |
14 | g.90404413_90404414delinsTA | CA2579770080 | CALM1 | c.320_321delinsTA (p.Arg107Leu) c.212_213delinsTA (p.Arg71Leu) c.323_324delinsTA (p.Arg108Leu) c.192_193delinsTA (p.Ser65Thr) c.213_214delinsTA (p.Ser72Thr) n.2450_2451delinsTA n.372_373delinsTA n.246_247delinsTA c.166-44_166-43delinsTA (n.166-44_166-43delinsTA) | |
14 | g.90404413_90404414delinsTC | CA2579770052 | CALM1 | c.320_321delinsTC (p.Arg107Leu) c.212_213delinsTC (p.Arg71Leu) c.323_324delinsTC (p.Arg108Leu) c.192_193delinsTC (p.Ser65Pro) c.213_214delinsTC (p.Ser72Pro) n.2450_2451delinsTC n.372_373delinsTC n.246_247delinsTC c.166-44_166-43delinsTC (n.166-44_166-43delinsTC) | |
14 | g.90404413_90404414delinsTG | CA2579773691 | CALM1 | c.320_321delinsTG (p.Arg107Leu) c.212_213delinsTG (p.Arg71Leu) c.323_324delinsTG (p.Arg108Leu) c.192_193delinsTG (p.Ser65Ala) c.213_214delinsTG (p.Ser72Ala) n.2450_2451delinsTG n.372_373delinsTG n.246_247delinsTG c.166-44_166-43delinsTG (n.166-44_166-43delinsTG) | |
14 | g.90404414T>A | CA487760124 | CALM1 | c.321T>A (p.Arg107=) c.213T>A (p.Arg71=) c.324T>A (p.Arg108=) c.193T>A (p.Ser65Thr) c.214T>A (p.Ser72Thr) n.2451T>A n.373T>A n.247T>A c.166-43T>A (n.166-43T>A) | |
14 | g.90404414T>C | CA487760125 | CALM1 | c.321T>C (p.Arg107=) c.213T>C (p.Arg71=) c.324T>C (p.Arg108=) c.193T>C (p.Ser65Pro) c.214T>C (p.Ser72Pro) n.2451T>C n.373T>C n.247T>C c.166-43T>C (n.166-43T>C) | dbSNP |
14 | g.90404414T>G | CA487760127 | CALM1 | c.321T>G (p.Arg107=) c.213T>G (p.Arg71=) c.324T>G (p.Arg108=) c.193T>G (p.Ser65Ala) c.214T>G (p.Ser72Ala) n.2451T>G n.373T>G n.247T>G c.166-43T>G (n.166-43T>G) | |
14 | g.90404414T= | CA2154484102 | CALM1 | c.321T= (p.Arg107=) c.213T= (p.Arg71=) c.324T= (p.Arg108=) c.193T= (p.Ser65=) c.214T= (p.Ser72=) n.2451T= n.373T= n.247T= c.166-43T= (n.166-43T=) | |
14 | g.90404415C>A | CA390690177 | CALM1 | c.322C>A (p.His108Asn) c.214C>A (p.His72Asn) c.325C>A (p.His109Asn) c.194C>A (p.Ser65Ter) c.215C>A (p.Ser72Ter) n.2452C>A n.374C>A n.248C>A c.166-42C>A (n.166-42C>A) | |
14 | g.90404415C>G | CA390690178 | CALM1 | c.322C>G (p.His108Asp) c.214C>G (p.His72Asp) c.325C>G (p.His109Asp) c.194C>G (p.Ser65Ter) c.215C>G (p.Ser72Ter) n.2452C>G n.374C>G n.248C>G c.166-42C>G (n.166-42C>G) | ClinVar dbSNP |
14 | g.90404415C>T | CA390690179 | CALM1 | c.322C>T (p.His108Tyr) c.214C>T (p.His72Tyr) c.325C>T (p.His109Tyr) c.194C>T (p.Ser65Leu) c.215C>T (p.Ser72Leu) n.2452C>T n.374C>T n.248C>T c.166-42C>T (n.166-42C>T) | |
14 | g.90404415_90404416delinsAG | CA2579774205 | CALM1 | c.322_323delinsAG (p.His108Ser) c.214_215delinsAG (p.His72Ser) c.325_326delinsAG (p.His109Ser) c.194_195delinsAG (p.Ser65Ter) c.215_216delinsAG (p.Ser72Ter) n.2452_2453delinsAG n.374_375delinsAG n.248_249delinsAG c.166-42_166-41delinsAG (n.166-42_166-41delinsAG) | |
14 | g.90404415_90404416delinsAT | CA2579770042 | CALM1 | c.322_323delinsAT (p.His108Ile) c.214_215delinsAT (p.His72Ile) c.325_326delinsAT (p.His109Ile) c.194_195delinsAT (p.Ser65Tyr) c.215_216delinsAT (p.Ser72Tyr) n.2452_2453delinsAT n.374_375delinsAT n.248_249delinsAT c.166-42_166-41delinsAT (n.166-42_166-41delinsAT) | |
14 | g.90404415_90404416delinsGC | CA2579770062 | CALM1 | c.322_323delinsGC (p.His108Ala) c.214_215delinsGC (p.His72Ala) c.325_326delinsGC (p.His109Ala) c.194_195delinsGC (p.Ser65Cys) c.215_216delinsGC (p.Ser72Cys) n.2452_2453delinsGC n.374_375delinsGC n.248_249delinsGC c.166-42_166-41delinsGC (n.166-42_166-41delinsGC) | |
14 | g.90404415_90404416delinsGG | CA2579772211 | CALM1 | c.322_323delinsGG (p.His108Gly) c.214_215delinsGG (p.His72Gly) c.325_326delinsGG (p.His109Gly) c.194_195delinsGG (p.Ser65Trp) c.215_216delinsGG (p.Ser72Trp) n.2452_2453delinsGG n.374_375delinsGG n.248_249delinsGG c.166-42_166-41delinsGG (n.166-42_166-41delinsGG) | |
14 | g.90404415_90404416delinsTC | CA2579771283 | CALM1 | c.322_323delinsTC (p.His108Ser) c.214_215delinsTC (p.His72Ser) c.325_326delinsTC (p.His109Ser) c.194_195delinsTC (p.Ser65Phe) c.215_216delinsTC (p.Ser72Phe) n.2452_2453delinsTC n.374_375delinsTC n.248_249delinsTC c.166-42_166-41delinsTC (n.166-42_166-41delinsTC) | |
14 | g.90404415_90404416delinsTG | CA2579773482 | CALM1 | c.322_323delinsTG (p.His108Cys) c.214_215delinsTG (p.His72Cys) c.325_326delinsTG (p.His109Cys) c.194_195delinsTG (p.Ser65Leu) c.215_216delinsTG (p.Ser72Leu) n.2452_2453delinsTG n.374_375delinsTG n.248_249delinsTG c.166-42_166-41delinsTG (n.166-42_166-41delinsTG) | |
14 | g.90404415_90404416delinsTT | CA2579773655 | CALM1 | c.322_323delinsTT (p.His108Phe) c.214_215delinsTT (p.His72Phe) c.325_326delinsTT (p.His109Phe) c.194_195delinsTT (p.Ser65Phe) c.215_216delinsTT (p.Ser72Phe) n.2452_2453delinsTT n.374_375delinsTT n.248_249delinsTT c.166-42_166-41delinsTT (n.166-42_166-41delinsTT) | |
14 | g.90404415_90404417delinsAAG | CA2579771634 | CALM1 | c.322_324delinsAAG (p.His108Lys) c.214_216delinsAAG (p.His72Lys) c.325_327delinsAAG (p.His109Lys) c.194_196delinsAAG (p.Ser65Ter) c.215_217delinsAAG (p.Ser72Ter) n.2452_2454delinsAAG n.374_376delinsAAG n.248_250delinsAAG c.166-42_166-40delinsAAG (n.166-42_166-40delinsAAG) | |
14 | g.90404415_90404417delinsAAT | CA2579771336 | CALM1 | c.322_324delinsAAT (p.His108Asn) c.214_216delinsAAT (p.His72Asn) c.325_327delinsAAT (p.His109Asn) c.194_196delinsAAT (p.Ser65Ter) c.215_217delinsAAT (p.Ser72Ter) n.2452_2454delinsAAT n.374_376delinsAAT n.248_250delinsAAT c.166-42_166-40delinsAAT (n.166-42_166-40delinsAAT) | |
14 | g.90404415_90404417delinsAGG | CA2579771557 | CALM1 | c.322_324delinsAGG (p.His108Arg) c.214_216delinsAGG (p.His72Arg) c.325_327delinsAGG (p.His109Arg) c.194_196delinsAGG (p.Ser65Ter) c.215_217delinsAGG (p.Ser72Ter) n.2452_2454delinsAGG n.374_376delinsAGG n.248_250delinsAGG c.166-42_166-40delinsAGG (n.166-42_166-40delinsAGG) | |
14 | g.90404415_90404417delinsATG | CA2579773534 | CALM1 | c.322_324delinsATG (p.His108Met) c.214_216delinsATG (p.His72Met) c.325_327delinsATG (p.His109Met) c.194_196delinsATG (p.Ser65_Arg66delinsTyrGly) c.215_217delinsATG (p.Ser72_Arg73delinsTyrGly) n.2452_2454delinsATG n.374_376delinsATG n.248_250delinsATG c.166-42_166-40delinsATG (n.166-42_166-40delinsATG) | |
14 | g.90404415_90404417delinsATT | CA2579770874 | CALM1 | c.322_324delinsATT (p.His108Ile) c.214_216delinsATT (p.His72Ile) c.325_327delinsATT (p.His109Ile) c.194_196delinsATT (p.Ser65_Arg66delinsTyrCys) c.215_217delinsATT (p.Ser72_Arg73delinsTyrCys) n.2452_2454delinsATT n.374_376delinsATT n.248_250delinsATT c.166-42_166-40delinsATT (n.166-42_166-40delinsATT) | |
14 | g.90404415_90404417delinsGAG | CA2579771047 | CALM1 | c.322_324delinsGAG (p.His108Glu) c.214_216delinsGAG (p.His72Glu) c.325_327delinsGAG (p.His109Glu) c.194_196delinsGAG (p.Ser65Ter) c.215_217delinsGAG (p.Ser72Ter) n.2452_2454delinsGAG n.374_376delinsGAG n.248_250delinsGAG c.166-42_166-40delinsGAG (n.166-42_166-40delinsGAG) | |
14 | g.90404415_90404417delinsGAT | CA2579771684 | CALM1 | c.322_324delinsGAT (p.His108Asp) c.214_216delinsGAT (p.His72Asp) c.325_327delinsGAT (p.His109Asp) c.194_196delinsGAT (p.Ser65Ter) c.215_217delinsGAT (p.Ser72Ter) n.2452_2454delinsGAT n.374_376delinsGAT n.248_250delinsGAT c.166-42_166-40delinsGAT (n.166-42_166-40delinsGAT) | |
14 | g.90404415_90404417delinsGCT | CA2579774326 | CALM1 | c.322_324delinsGCT (p.His108Ala) c.214_216delinsGCT (p.His72Ala) c.325_327delinsGCT (p.His109Ala) c.194_196delinsGCT (p.Ser65_Arg66delinsCysCys) c.215_217delinsGCT (p.Ser72_Arg73delinsCysCys) n.2452_2454delinsGCT n.374_376delinsGCT n.248_250delinsGCT c.166-42_166-40delinsGCT (n.166-42_166-40delinsGCT) | |
14 | g.90404415_90404417delinsGGG | CA2579770534 | CALM1 | c.322_324delinsGGG (p.His108Gly) c.214_216delinsGGG (p.His72Gly) c.325_327delinsGGG (p.His109Gly) c.194_196delinsGGG (p.Ser65_Arg66delinsTrpGly) c.215_217delinsGGG (p.Ser72_Arg73delinsTrpGly) n.2452_2454delinsGGG n.374_376delinsGGG n.248_250delinsGGG c.166-42_166-40delinsGGG (n.166-42_166-40delinsGGG) | |
14 | g.90404415_90404417delinsGGT | CA2579771276 | CALM1 | c.322_324delinsGGT (p.His108Gly) c.214_216delinsGGT (p.His72Gly) c.325_327delinsGGT (p.His109Gly) c.194_196delinsGGT (p.Ser65_Arg66delinsTrpCys) c.215_217delinsGGT (p.Ser72_Arg73delinsTrpCys) n.2452_2454delinsGGT n.374_376delinsGGT n.248_250delinsGGT c.166-42_166-40delinsGGT (n.166-42_166-40delinsGGT) | |
14 | g.90404415_90404417delinsGTT | CA2579772154 | CALM1 | c.322_324delinsGTT (p.His108Val) c.214_216delinsGTT (p.His72Val) c.325_327delinsGTT (p.His109Val) c.194_196delinsGTT (p.Ser65_Arg66delinsCysCys) c.215_217delinsGTT (p.Ser72_Arg73delinsCysCys) n.2452_2454delinsGTT n.374_376delinsGTT n.248_250delinsGTT c.166-42_166-40delinsGTT (n.166-42_166-40delinsGTT) | |
14 | g.90404415_90404417delinsTAA | CA2579773056 | CALM1 | c.322_324delinsTAA (p.His108Ter) c.214_216delinsTAA (p.His72Ter) c.325_327delinsTAA (p.His109Ter) c.194_196delinsTAA (p.Ser65_Arg66delinsLeuSer) c.215_217delinsTAA (p.Ser72_Arg73delinsLeuSer) n.2452_2454delinsTAA n.374_376delinsTAA n.248_250delinsTAA c.166-42_166-40delinsTAA (n.166-42_166-40delinsTAA) | |
14 | g.90404415_90404417delinsTAG | CA2579770600 | CALM1 | c.322_324delinsTAG (p.His108Ter) c.214_216delinsTAG (p.His72Ter) c.325_327delinsTAG (p.His109Ter) c.194_196delinsTAG (p.Ser65_Arg66delinsLeuGly) c.215_217delinsTAG (p.Ser72_Arg73delinsLeuGly) n.2452_2454delinsTAG n.374_376delinsTAG n.248_250delinsTAG c.166-42_166-40delinsTAG (n.166-42_166-40delinsTAG) | |
14 | g.90404415_90404417delinsTAT | CA2579772111 | CALM1 | c.322_324delinsTAT (p.His108Tyr) c.214_216delinsTAT (p.His72Tyr) c.325_327delinsTAT (p.His109Tyr) c.194_196delinsTAT (p.Ser65_Arg66delinsLeuCys) c.215_217delinsTAT (p.Ser72_Arg73delinsLeuCys) n.2452_2454delinsTAT n.374_376delinsTAT n.248_250delinsTAT c.166-42_166-40delinsTAT (n.166-42_166-40delinsTAT) | |
14 | g.90404415_90404417delinsTCG | CA2579772296 | CALM1 | c.322_324delinsTCG (p.His108Ser) c.214_216delinsTCG (p.His72Ser) c.325_327delinsTCG (p.His109Ser) c.194_196delinsTCG (p.Ser65_Arg66delinsPheGly) c.215_217delinsTCG (p.Ser72_Arg73delinsPheGly) n.2452_2454delinsTCG n.374_376delinsTCG n.248_250delinsTCG c.166-42_166-40delinsTCG (n.166-42_166-40delinsTCG) | |
14 | g.90404415_90404417delinsTCT | CA2579770726 | CALM1 | c.322_324delinsTCT (p.His108Ser) c.214_216delinsTCT (p.His72Ser) c.325_327delinsTCT (p.His109Ser) c.194_196delinsTCT (p.Ser65_Arg66delinsPheCys) c.215_217delinsTCT (p.Ser72_Arg73delinsPheCys) n.2452_2454delinsTCT n.374_376delinsTCT n.248_250delinsTCT c.166-42_166-40delinsTCT (n.166-42_166-40delinsTCT) | |
14 | g.90404415_90404417delinsTGT | CA2579772560 | CALM1 | c.322_324delinsTGT (p.His108Cys) c.214_216delinsTGT (p.His72Cys) c.325_327delinsTGT (p.His109Cys) c.194_196delinsTGT (p.Ser65_Arg66delinsLeuCys) c.215_217delinsTGT (p.Ser72_Arg73delinsLeuCys) n.2452_2454delinsTGT n.374_376delinsTGT n.248_250delinsTGT c.166-42_166-40delinsTGT (n.166-42_166-40delinsTGT) | |
14 | g.90404415_90404417delinsTTT | CA2579770405 | CALM1 | c.322_324delinsTTT (p.His108Phe) c.214_216delinsTTT (p.His72Phe) c.325_327delinsTTT (p.His109Phe) c.194_196delinsTTT (p.Ser65_Arg66delinsPheCys) c.215_217delinsTTT (p.Ser72_Arg73delinsPheCys) n.2452_2454delinsTTT n.374_376delinsTTT n.248_250delinsTTT c.166-42_166-40delinsTTT (n.166-42_166-40delinsTTT) | |
14 | g.90404416A>C | CA390690180 | CALM1 | c.323A>C (p.His108Pro) c.215A>C (p.His72Pro) c.326A>C (p.His109Pro) c.195A>C (p.Ser65=) c.216A>C (p.Ser72=) n.2453A>C n.375A>C n.249A>C c.166-41A>C (n.166-41A>C) | |
14 | g.90404416A>G | CA390690181 | CALM1 | c.323A>G (p.His108Arg) c.215A>G (p.His72Arg) c.326A>G (p.His109Arg) c.195A>G (p.Ser65=) c.216A>G (p.Ser72=) n.2453A>G n.375A>G n.249A>G c.166-41A>G (n.166-41A>G) | |
14 | g.90404416A>T | CA390690182 | CALM1 | c.323A>T (p.His108Leu) c.215A>T (p.His72Leu) c.326A>T (p.His109Leu) c.195A>T (p.Ser65=) c.216A>T (p.Ser72=) n.2453A>T n.375A>T n.249A>T c.166-41A>T (n.166-41A>T) | |
14 | g.90404416_90404417delinsCG | CA2579770442 | CALM1 | c.323_324delinsCG (p.His108Pro) c.215_216delinsCG (p.His72Pro) c.326_327delinsCG (p.His109Pro) c.195_196delinsCG (p.Arg66Gly) c.216_217delinsCG (p.Arg73Gly) n.2453_2454delinsCG n.375_376delinsCG n.249_250delinsCG c.166-41_166-40delinsCG (n.166-41_166-40delinsCG) | |
14 | g.90404416_90404417delinsCT | CA2579773761 | CALM1 | c.323_324delinsCT (p.His108Pro) c.215_216delinsCT (p.His72Pro) c.326_327delinsCT (p.His109Pro) c.195_196delinsCT (p.Arg66Cys) c.216_217delinsCT (p.Arg73Cys) n.2453_2454delinsCT n.375_376delinsCT n.249_250delinsCT c.166-41_166-40delinsCT (n.166-41_166-40delinsCT) | |
14 | g.90404416_90404417delinsGA | CA2579770280 | CALM1 | c.323_324delinsGA (p.His108Arg) c.215_216delinsGA (p.His72Arg) c.326_327delinsGA (p.His109Arg) c.195_196delinsGA (p.Arg66Ser) c.216_217delinsGA (p.Arg73Ser) n.2453_2454delinsGA n.375_376delinsGA n.249_250delinsGA c.166-41_166-40delinsGA (n.166-41_166-40delinsGA) | |
14 | g.90404416_90404417delinsGG | CA2579772568 | CALM1 | c.323_324delinsGG (p.His108Arg) c.215_216delinsGG (p.His72Arg) c.326_327delinsGG (p.His109Arg) c.195_196delinsGG (p.Arg66Gly) c.216_217delinsGG (p.Arg73Gly) n.2453_2454delinsGG n.375_376delinsGG n.249_250delinsGG c.166-41_166-40delinsGG (n.166-41_166-40delinsGG) | |
14 | g.90404416_90404417delinsGT | CA2579770255 | CALM1 | c.323_324delinsGT (p.His108Arg) c.215_216delinsGT (p.His72Arg) c.326_327delinsGT (p.His109Arg) c.195_196delinsGT (p.Arg66Cys) c.216_217delinsGT (p.Arg73Cys) n.2453_2454delinsGT n.375_376delinsGT n.249_250delinsGT c.166-41_166-40delinsGT (n.166-41_166-40delinsGT) | |
14 | g.90404416_90404417delinsTA | CA2579770825 | CALM1 | c.323_324delinsTA (p.His108Leu) c.215_216delinsTA (p.His72Leu) c.326_327delinsTA (p.His109Leu) c.195_196delinsTA (p.Arg66Ser) c.216_217delinsTA (p.Arg73Ser) n.2453_2454delinsTA n.375_376delinsTA n.249_250delinsTA c.166-41_166-40delinsTA (n.166-41_166-40delinsTA) | |
14 | g.90404416_90404417delinsTG | CA2579770391 | CALM1 | c.323_324delinsTG (p.His108Leu) c.215_216delinsTG (p.His72Leu) c.326_327delinsTG (p.His109Leu) c.195_196delinsTG (p.Arg66Gly) c.216_217delinsTG (p.Arg73Gly) n.2453_2454delinsTG n.375_376delinsTG n.249_250delinsTG c.166-41_166-40delinsTG (n.166-41_166-40delinsTG) | |
14 | g.90404416_90404417delinsTT | CA2579770201 | CALM1 | c.323_324delinsTT (p.His108Leu) c.215_216delinsTT (p.His72Leu) c.326_327delinsTT (p.His109Leu) c.195_196delinsTT (p.Arg66Cys) c.216_217delinsTT (p.Arg73Cys) n.2453_2454delinsTT n.375_376delinsTT n.249_250delinsTT c.166-41_166-40delinsTT (n.166-41_166-40delinsTT) | |
14 | g.90404417C>A | CA390690183 | CALM1 | c.324C>A (p.His108Gln) c.216C>A (p.His72Gln) c.327C>A (p.His109Gln) c.196C>A (p.Arg66Ser) c.217C>A (p.Arg73Ser) n.2454C>A n.376C>A n.250C>A c.166-40C>A (n.166-40C>A) | |
14 | g.90404417C= | CA2154484107 | CALM1 | c.324C= (p.His108=) c.216C= (p.His72=) c.327C= (p.His109=) c.196C= (p.Arg66=) c.217C= (p.Arg73=) n.2454C= n.376C= n.250C= c.166-40C= (n.166-40C=) | |
14 | g.90404417C>G | CA390690184 | CALM1 | c.324C>G (p.His108Gln) c.216C>G (p.His72Gln) c.327C>G (p.His109Gln) c.196C>G (p.Arg66Gly) c.217C>G (p.Arg73Gly) n.2454C>G n.376C>G n.250C>G c.166-40C>G (n.166-40C>G) | |
14 | g.90404417C>T | CA7305797 | CALM1 | c.324C>T (p.His108=) c.216C>T (p.His72=) c.327C>T (p.His109=) c.196C>T (p.Arg66Cys) c.217C>T (p.Arg73Cys) n.2454C>T n.376C>T n.250C>T c.166-40C>T (n.166-40C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.90404418G>A | CA390690185 | CALM1 | c.325G>A (p.Val109Ile) c.217G>A (p.Val73Ile) c.328G>A (p.Val110Ile) c.197G>A (p.Arg66His) c.218G>A (p.Arg73His) n.2455G>A n.377G>A n.251G>A c.166-39G>A (n.166-39G>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404418G>C | CA390690186 | CALM1 | c.325G>C (p.Val109Leu) c.217G>C (p.Val73Leu) c.328G>C (p.Val110Leu) c.197G>C (p.Arg66Pro) c.218G>C (p.Arg73Pro) n.2455G>C n.377G>C n.251G>C c.166-39G>C (n.166-39G>C) | |
14 | g.90404418G= | CA2154484111 | CALM1 | c.325G= (p.Val109=) c.217G= (p.Val73=) c.328G= (p.Val110=) c.197G= (p.Arg66=) c.218G= (p.Arg73=) n.2455G= n.377G= n.251G= c.166-39G= (n.166-39G=) | |
14 | g.90404418G>T | CA390690187 | CALM1 | c.325G>T (p.Val109Phe) c.217G>T (p.Val73Phe) c.328G>T (p.Val110Phe) c.197G>T (p.Arg66Leu) c.218G>T (p.Arg73Leu) n.2455G>T n.377G>T n.251G>T c.166-39G>T (n.166-39G>T) | |
14 | g.90404418_90404419delinsAA | CA2579770846 | CALM1 | c.325_326delinsAA (p.Val109Asn) c.217_218delinsAA (p.Val73Asn) c.328_329delinsAA (p.Val110Asn) c.197_198delinsAA (p.Arg66Gln) c.218_219delinsAA (p.Arg73Gln) n.2455_2456delinsAA n.377_378delinsAA n.251_252delinsAA c.166-39_166-38delinsAA (n.166-39_166-38delinsAA) | |
14 | g.90404418_90404419delinsAC | CA2579772229 | CALM1 | c.325_326delinsAC (p.Val109Thr) c.217_218delinsAC (p.Val73Thr) c.328_329delinsAC (p.Val110Thr) c.197_198delinsAC (p.Arg66His) c.218_219delinsAC (p.Arg73His) n.2455_2456delinsAC n.377_378delinsAC n.251_252delinsAC c.166-39_166-38delinsAC (n.166-39_166-38delinsAC) | |
14 | g.90404418_90404419delinsAG | CA2579774164 | CALM1 | c.325_326delinsAG (p.Val109Ser) c.217_218delinsAG (p.Val73Ser) c.328_329delinsAG (p.Val110Ser) c.197_198delinsAG (p.Arg66Gln) c.218_219delinsAG (p.Arg73Gln) n.2455_2456delinsAG n.377_378delinsAG n.251_252delinsAG c.166-39_166-38delinsAG (n.166-39_166-38delinsAG) | |
14 | g.90404418_90404419delinsCA | CA2579773706 | CALM1 | c.325_326delinsCA (p.Val109His) c.217_218delinsCA (p.Val73His) c.328_329delinsCA (p.Val110His) c.197_198delinsCA (p.Arg66Pro) c.218_219delinsCA (p.Arg73Pro) n.2455_2456delinsCA n.377_378delinsCA n.251_252delinsCA c.166-39_166-38delinsCA (n.166-39_166-38delinsCA) | |
14 | g.90404418_90404419delinsCC | CA2579770074 | CALM1 | c.325_326delinsCC (p.Val109Pro) c.217_218delinsCC (p.Val73Pro) c.328_329delinsCC (p.Val110Pro) c.197_198delinsCC (p.Arg66Pro) c.218_219delinsCC (p.Arg73Pro) n.2455_2456delinsCC n.377_378delinsCC n.251_252delinsCC c.166-39_166-38delinsCC (n.166-39_166-38delinsCC) | |
14 | g.90404418_90404419delinsTA | CA2579771558 | CALM1 | c.325_326delinsTA (p.Val109Tyr) c.217_218delinsTA (p.Val73Tyr) c.328_329delinsTA (p.Val110Tyr) c.197_198delinsTA (p.Arg66Leu) c.218_219delinsTA (p.Arg73Leu) n.2455_2456delinsTA n.377_378delinsTA n.251_252delinsTA c.166-39_166-38delinsTA (n.166-39_166-38delinsTA) | |
14 | g.90404418_90404419delinsTC | CA2579771974 | CALM1 | c.325_326delinsTC (p.Val109Ser) c.217_218delinsTC (p.Val73Ser) c.328_329delinsTC (p.Val110Ser) c.197_198delinsTC (p.Arg66Leu) c.218_219delinsTC (p.Arg73Leu) n.2455_2456delinsTC n.377_378delinsTC n.251_252delinsTC c.166-39_166-38delinsTC (n.166-39_166-38delinsTC) | |
14 | g.90404418_90404419delinsTG | CA2579770227 | CALM1 | c.325_326delinsTG (p.Val109Cys) c.217_218delinsTG (p.Val73Cys) c.328_329delinsTG (p.Val110Cys) c.197_198delinsTG (p.Arg66Leu) c.218_219delinsTG (p.Arg73Leu) n.2455_2456delinsTG n.377_378delinsTG n.251_252delinsTG c.166-39_166-38delinsTG (n.166-39_166-38delinsTG) | |
14 | g.90404418_90404420delinsAAT | CA2579772897 | CALM1 | c.325_327delinsAAT (p.Val109Asn) c.217_219delinsAAT (p.Val73Asn) c.328_330delinsAAT (p.Val110Asn) c.197_199delinsAAT (p.Arg66_His67delinsGlnTyr) c.218_220delinsAAT (p.Arg73_His74delinsGlnTyr) n.2455_2457delinsAAT n.377_379delinsAAT n.251_253delinsAAT c.166-39_166-37delinsAAT (n.166-39_166-37delinsAAT) | |
14 | g.90404418_90404420delinsACG | CA2579769778 | CALM1 | c.325_327delinsACG (p.Val109Thr) c.217_219delinsACG (p.Val73Thr) c.328_330delinsACG (p.Val110Thr) c.197_199delinsACG (p.Arg66_His67delinsHisAsp) c.218_220delinsACG (p.Arg73_His74delinsHisAsp) n.2455_2457delinsACG n.377_379delinsACG n.251_253delinsACG c.166-39_166-37delinsACG (n.166-39_166-37delinsACG) | |
14 | g.90404418_90404420delinsACT | CA2579770309 | CALM1 | c.325_327delinsACT (p.Val109Thr) c.217_219delinsACT (p.Val73Thr) c.328_330delinsACT (p.Val110Thr) c.197_199delinsACT (p.Arg66_His67delinsHisTyr) c.218_220delinsACT (p.Arg73_His74delinsHisTyr) n.2455_2457delinsACT n.377_379delinsACT n.251_253delinsACT c.166-39_166-37delinsACT (n.166-39_166-37delinsACT) | |
14 | g.90404418_90404420delinsAGG | CA2579771936 | CALM1 | c.325_327delinsAGG (p.Val109Arg) c.217_219delinsAGG (p.Val73Arg) c.328_330delinsAGG (p.Val110Arg) c.197_199delinsAGG (p.Arg66_His67delinsGlnAsp) c.218_220delinsAGG (p.Arg73_His74delinsGlnAsp) n.2455_2457delinsAGG n.377_379delinsAGG n.251_253delinsAGG c.166-39_166-37delinsAGG (n.166-39_166-37delinsAGG) | |
14 | g.90404418_90404420delinsATA | CA2579770048 | CALM1 | c.325_327delinsATA (p.Val109Ile) c.217_219delinsATA (p.Val73Ile) c.328_330delinsATA (p.Val110Ile) c.197_199delinsATA (p.Arg66_His67delinsHisAsn) c.218_220delinsATA (p.Arg73_His74delinsHisAsn) n.2455_2457delinsATA n.377_379delinsATA n.251_253delinsATA c.166-39_166-37delinsATA (n.166-39_166-37delinsATA) | |
14 | g.90404418_90404420delinsATG | CA2579771791 | CALM1 | c.325_327delinsATG (p.Val109Met) c.217_219delinsATG (p.Val73Met) c.328_330delinsATG (p.Val110Met) c.197_199delinsATG (p.Arg66_His67delinsHisAsp) c.218_220delinsATG (p.Arg73_His74delinsHisAsp) n.2455_2457delinsATG n.377_379delinsATG n.251_253delinsATG c.166-39_166-37delinsATG (n.166-39_166-37delinsATG) | |
14 | g.90404418_90404420delinsATT | CA2579771887 | CALM1 | c.325_327delinsATT (p.Val109Ile) c.217_219delinsATT (p.Val73Ile) c.328_330delinsATT (p.Val110Ile) c.197_199delinsATT (p.Arg66_His67delinsHisTyr) c.218_220delinsATT (p.Arg73_His74delinsHisTyr) n.2455_2457delinsATT n.377_379delinsATT n.251_253delinsATT c.166-39_166-37delinsATT (n.166-39_166-37delinsATT) | |
14 | g.90404418_90404420delinsCAG | CA2579772022 | CALM1 | c.325_327delinsCAG (p.Val109Gln) c.217_219delinsCAG (p.Val73Gln) c.328_330delinsCAG (p.Val110Gln) c.197_199delinsCAG (p.Arg66_His67delinsProAsp) c.218_220delinsCAG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCAG n.377_379delinsCAG n.251_253delinsCAG c.166-39_166-37delinsCAG (n.166-39_166-37delinsCAG) | |
14 | g.90404418_90404420delinsCCG | CA2579770174 | CALM1 | c.325_327delinsCCG (p.Val109Pro) c.217_219delinsCCG (p.Val73Pro) c.328_330delinsCCG (p.Val110Pro) c.197_199delinsCCG (p.Arg66_His67delinsProAsp) c.218_220delinsCCG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCCG n.377_379delinsCCG n.251_253delinsCCG c.166-39_166-37delinsCCG (n.166-39_166-37delinsCCG) | |
14 | g.90404418_90404420delinsCTG | CA2579772050 | CALM1 | c.325_327delinsCTG (p.Val109Leu) c.217_219delinsCTG (p.Val73Leu) c.328_330delinsCTG (p.Val110Leu) c.197_199delinsCTG (p.Arg66_His67delinsProAsp) c.218_220delinsCTG (p.Arg73_His74delinsProAsp) n.2455_2457delinsCTG n.377_379delinsCTG n.251_253delinsCTG c.166-39_166-37delinsCTG (n.166-39_166-37delinsCTG) | |
14 | g.90404418_90404420delinsTAG | CA2579771507 | CALM1 | c.325_327delinsTAG (p.Val109Ter) c.217_219delinsTAG (p.Val73Ter) c.328_330delinsTAG (p.Val110Ter) c.197_199delinsTAG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTAG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTAG n.377_379delinsTAG n.251_253delinsTAG c.166-39_166-37delinsTAG (n.166-39_166-37delinsTAG) | |
14 | g.90404418_90404420delinsTAT | CA2579770370 | CALM1 | c.325_327delinsTAT (p.Val109Tyr) c.217_219delinsTAT (p.Val73Tyr) c.328_330delinsTAT (p.Val110Tyr) c.197_199delinsTAT (p.Arg66_His67delinsLeuTyr) c.218_220delinsTAT (p.Arg73_His74delinsLeuTyr) n.2455_2457delinsTAT n.377_379delinsTAT n.251_253delinsTAT c.166-39_166-37delinsTAT (n.166-39_166-37delinsTAT) | |
14 | g.90404418_90404420delinsTGG | CA2579774216 | CALM1 | c.325_327delinsTGG (p.Val109Trp) c.217_219delinsTGG (p.Val73Trp) c.328_330delinsTGG (p.Val110Trp) c.197_199delinsTGG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTGG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTGG n.377_379delinsTGG n.251_253delinsTGG c.166-39_166-37delinsTGG (n.166-39_166-37delinsTGG) | |
14 | g.90404418_90404420delinsTTG | CA2579771430 | CALM1 | c.325_327delinsTTG (p.Val109Leu) c.217_219delinsTTG (p.Val73Leu) c.328_330delinsTTG (p.Val110Leu) c.197_199delinsTTG (p.Arg66_His67delinsLeuAsp) c.218_220delinsTTG (p.Arg73_His74delinsLeuAsp) n.2455_2457delinsTTG n.377_379delinsTTG n.251_253delinsTTG c.166-39_166-37delinsTTG (n.166-39_166-37delinsTTG) | |
14 | g.90404418_90404420delinsTTT | CA2579770114 | CALM1 | c.325_327delinsTTT (p.Val109Phe) c.217_219delinsTTT (p.Val73Phe) c.328_330delinsTTT (p.Val110Phe) c.197_199delinsTTT (p.Arg66_His67delinsLeuTyr) c.218_220delinsTTT (p.Arg73_His74delinsLeuTyr) n.2455_2457delinsTTT n.377_379delinsTTT n.251_253delinsTTT c.166-39_166-37delinsTTT (n.166-39_166-37delinsTTT) | |
14 | g.90404419T>A | CA390690190 | CALM1 | c.326T>A (p.Val109Asp) c.218T>A (p.Val73Asp) c.329T>A (p.Val110Asp) c.198T>A (p.Arg66=) c.219T>A (p.Arg73=) n.2456T>A n.378T>A n.252T>A c.166-38T>A (n.166-38T>A) | |
14 | g.90404419T>C | CA390690188 | CALM1 | c.326T>C (p.Val109Ala) c.218T>C (p.Val73Ala) c.329T>C (p.Val110Ala) c.198T>C (p.Arg66=) c.219T>C (p.Arg73=) n.2456T>C n.378T>C n.252T>C c.166-38T>C (n.166-38T>C) | |
14 | g.90404419T>G | CA390690189 | CALM1 | c.326T>G (p.Val109Gly) c.218T>G (p.Val73Gly) c.329T>G (p.Val110Gly) c.198T>G (p.Arg66=) c.219T>G (p.Arg73=) n.2456T>G n.378T>G n.252T>G c.166-38T>G (n.166-38T>G) | |
14 | g.90404419_90404420delinsAG | CA2579772528 | CALM1 | c.326_327delinsAG (p.Val109Glu) c.218_219delinsAG (p.Val73Glu) c.329_330delinsAG (p.Val110Glu) c.198_199delinsAG (p.His67Asp) c.219_220delinsAG (p.His74Asp) n.2456_2457delinsAG n.378_379delinsAG n.252_253delinsAG c.166-38_166-37delinsAG (n.166-38_166-37delinsAG) | |
14 | g.90404419_90404420delinsAT | CA2579772687 | CALM1 | c.326_327delinsAT (p.Val109Asp) c.218_219delinsAT (p.Val73Asp) c.329_330delinsAT (p.Val110Asp) c.198_199delinsAT (p.His67Tyr) c.219_220delinsAT (p.His74Tyr) n.2456_2457delinsAT n.378_379delinsAT n.252_253delinsAT c.166-38_166-37delinsAT (n.166-38_166-37delinsAT) | |
14 | g.90404419_90404420delinsCA | CA2579770260 | CALM1 | c.326_327delinsCA (p.Val109Ala) c.218_219delinsCA (p.Val73Ala) c.329_330delinsCA (p.Val110Ala) c.198_199delinsCA (p.His67Asn) c.219_220delinsCA (p.His74Asn) n.2456_2457delinsCA n.378_379delinsCA n.252_253delinsCA c.166-38_166-37delinsCA (n.166-38_166-37delinsCA) | |
14 | g.90404419_90404420delinsCG | CA2579772606 | CALM1 | c.326_327delinsCG (p.Val109Ala) c.218_219delinsCG (p.Val73Ala) c.329_330delinsCG (p.Val110Ala) c.198_199delinsCG (p.His67Asp) c.219_220delinsCG (p.His74Asp) n.2456_2457delinsCG n.378_379delinsCG n.252_253delinsCG c.166-38_166-37delinsCG (n.166-38_166-37delinsCG) | |
14 | g.90404419_90404420delinsCT | CA2579770086 | CALM1 | c.326_327delinsCT (p.Val109Ala) c.218_219delinsCT (p.Val73Ala) c.329_330delinsCT (p.Val110Ala) c.198_199delinsCT (p.His67Tyr) c.219_220delinsCT (p.His74Tyr) n.2456_2457delinsCT n.378_379delinsCT n.252_253delinsCT c.166-38_166-37delinsCT (n.166-38_166-37delinsCT) | |
14 | g.90404419_90404420delinsGA | CA2579773344 | CALM1 | c.326_327delinsGA (p.Val109Gly) c.218_219delinsGA (p.Val73Gly) c.329_330delinsGA (p.Val110Gly) c.198_199delinsGA (p.His67Asn) c.219_220delinsGA (p.His74Asn) n.2456_2457delinsGA n.378_379delinsGA n.252_253delinsGA c.166-38_166-37delinsGA (n.166-38_166-37delinsGA) | |
14 | g.90404419_90404420delinsGG | CA2579774229 | CALM1 | c.326_327delinsGG (p.Val109Gly) c.218_219delinsGG (p.Val73Gly) c.329_330delinsGG (p.Val110Gly) c.198_199delinsGG (p.His67Asp) c.219_220delinsGG (p.His74Asp) n.2456_2457delinsGG n.378_379delinsGG n.252_253delinsGG c.166-38_166-37delinsGG (n.166-38_166-37delinsGG) | |
14 | g.90404419_90404420delinsGT | CA2579774214 | CALM1 | c.326_327delinsGT (p.Val109Gly) c.218_219delinsGT (p.Val73Gly) c.329_330delinsGT (p.Val110Gly) c.198_199delinsGT (p.His67Tyr) c.219_220delinsGT (p.His74Tyr) n.2456_2457delinsGT n.378_379delinsGT n.252_253delinsGT c.166-38_166-37delinsGT (n.166-38_166-37delinsGT) | |
14 | g.90404420C>A | CA487760145 | CALM1 | c.327C>A (p.Val109=) c.219C>A (p.Val73=) c.330C>A (p.Val110=) c.199C>A (p.His67Asn) c.220C>A (p.His74Asn) n.2457C>A n.379C>A n.253C>A c.166-37C>A (n.166-37C>A) | dbSNP |
14 | g.90404420C= | CA2154484115 | CALM1 | c.327C= (p.Val109=) c.219C= (p.Val73=) c.330C= (p.Val110=) c.199C= (p.His67=) c.220C= (p.His74=) n.2457C= n.379C= n.253C= c.166-37C= (n.166-37C=) | |
14 | g.90404420C>G | CA487760147 | CALM1 | c.327C>G (p.Val109=) c.219C>G (p.Val73=) c.330C>G (p.Val110=) c.199C>G (p.His67Asp) c.220C>G (p.His74Asp) n.2457C>G n.379C>G n.253C>G c.166-37C>G (n.166-37C>G) | |
14 | g.90404420C>T | CA487760149 | CALM1 | c.327C>T (p.Val109=) c.219C>T (p.Val73=) c.330C>T (p.Val110=) c.199C>T (p.His67Tyr) c.220C>T (p.His74Tyr) n.2457C>T n.379C>T n.253C>T c.166-37C>T (n.166-37C>T) | ClinVar gnomAD v4 |
14 | g.90404421A>C | CA390690191 | CALM1 | c.328A>C (p.Met110Leu) c.220A>C (p.Met74Leu) c.331A>C (p.Met111Leu) c.200A>C (p.His67Pro) c.221A>C (p.His74Pro) n.2458A>C n.380A>C n.254A>C c.166-36A>C (n.166-36A>C) | ClinVar dbSNP |
14 | g.90404421A>G | CA390690192 | CALM1 | c.328A>G (p.Met110Val) c.220A>G (p.Met74Val) c.331A>G (p.Met111Val) c.200A>G (p.His67Arg) c.221A>G (p.His74Arg) n.2458A>G n.380A>G n.254A>G c.166-36A>G (n.166-36A>G) | |
14 | g.90404421A>T | CA390690193 | CALM1 | c.328A>T (p.Met110Leu) c.220A>T (p.Met74Leu) c.331A>T (p.Met111Leu) c.200A>T (p.His67Leu) c.221A>T (p.His74Leu) n.2458A>T n.380A>T n.254A>T c.166-36A>T (n.166-36A>T) | |
14 | g.90404421_90404422delinsCA | CA2579770070 | CALM1 | c.328_329delinsCA (p.Met110Gln) c.220_221delinsCA (p.Met74Gln) c.331_332delinsCA (p.Met111Gln) c.200_201delinsCA (p.His67Pro) c.221_222delinsCA (p.His74Pro) n.2458_2459delinsCA n.380_381delinsCA n.254_255delinsCA c.166-36_166-35delinsCA (n.166-36_166-35delinsCA) | |
14 | g.90404421_90404422delinsCC | CA2579772367 | CALM1 | c.328_329delinsCC (p.Met110Pro) c.220_221delinsCC (p.Met74Pro) c.331_332delinsCC (p.Met111Pro) c.200_201delinsCC (p.His67Pro) c.221_222delinsCC (p.His74Pro) n.2458_2459delinsCC n.380_381delinsCC n.254_255delinsCC c.166-36_166-35delinsCC (n.166-36_166-35delinsCC) | |
14 | g.90404421_90404422delinsCG | CA2579770663 | CALM1 | c.328_329delinsCG (p.Met110Arg) c.220_221delinsCG (p.Met74Arg) c.331_332delinsCG (p.Met111Arg) c.200_201delinsCG (p.His67Pro) c.221_222delinsCG (p.His74Pro) n.2458_2459delinsCG n.380_381delinsCG n.254_255delinsCG c.166-36_166-35delinsCG (n.166-36_166-35delinsCG) | |
14 | g.90404421_90404422delinsGA | CA2579772755 | CALM1 | c.328_329delinsGA (p.Met110Glu) c.220_221delinsGA (p.Met74Glu) c.331_332delinsGA (p.Met111Glu) c.200_201delinsGA (p.His67Arg) c.221_222delinsGA (p.His74Arg) n.2458_2459delinsGA n.380_381delinsGA n.254_255delinsGA c.166-36_166-35delinsGA (n.166-36_166-35delinsGA) | |
14 | g.90404421_90404422delinsGC | CA2579773669 | CALM1 | c.328_329delinsGC (p.Met110Ala) c.220_221delinsGC (p.Met74Ala) c.331_332delinsGC (p.Met111Ala) c.200_201delinsGC (p.His67Arg) c.221_222delinsGC (p.His74Arg) n.2458_2459delinsGC n.380_381delinsGC n.254_255delinsGC c.166-36_166-35delinsGC (n.166-36_166-35delinsGC) | |
14 | g.90404421_90404422delinsGG | CA2579772070 | CALM1 | c.328_329delinsGG (p.Met110Gly) c.220_221delinsGG (p.Met74Gly) c.331_332delinsGG (p.Met111Gly) c.200_201delinsGG (p.His67Arg) c.221_222delinsGG (p.His74Arg) n.2458_2459delinsGG n.380_381delinsGG n.254_255delinsGG c.166-36_166-35delinsGG (n.166-36_166-35delinsGG) | |
14 | g.90404421_90404422delinsTA | CA2579773740 | CALM1 | c.328_329delinsTA (p.Met110Ter) c.220_221delinsTA (p.Met74Ter) c.331_332delinsTA (p.Met111Ter) c.200_201delinsTA (p.His67Leu) c.221_222delinsTA (p.His74Leu) n.2458_2459delinsTA n.380_381delinsTA n.254_255delinsTA c.166-36_166-35delinsTA (n.166-36_166-35delinsTA) | |
14 | g.90404421_90404422delinsTC | CA2579773327 | CALM1 | c.328_329delinsTC (p.Met110Ser) c.220_221delinsTC (p.Met74Ser) c.331_332delinsTC (p.Met111Ser) c.200_201delinsTC (p.His67Leu) c.221_222delinsTC (p.His74Leu) n.2458_2459delinsTC n.380_381delinsTC n.254_255delinsTC c.166-36_166-35delinsTC (n.166-36_166-35delinsTC) | |
14 | g.90404421_90404422delinsTG | CA2579769772 | CALM1 | c.328_329delinsTG (p.Met110Trp) c.220_221delinsTG (p.Met74Trp) c.331_332delinsTG (p.Met111Trp) c.200_201delinsTG (p.His67Leu) c.221_222delinsTG (p.His74Leu) n.2458_2459delinsTG n.380_381delinsTG n.254_255delinsTG c.166-36_166-35delinsTG (n.166-36_166-35delinsTG) | |
14 | g.90404421_90404423delinsCGT | CA2579770536 | CALM1 | c.328_330delinsCGT (p.Met110Arg) c.220_222delinsCGT (p.Met74Arg) c.331_333delinsCGT (p.Met111Arg) c.200_202delinsCGT (p.His67_Asp68delinsProTyr) c.221_223delinsCGT (p.His74_Asp75delinsProTyr) n.2458_2460delinsCGT n.380_382delinsCGT n.254_256delinsCGT c.166-36_166-34delinsCGT (n.166-36_166-34delinsCGT) | |
14 | g.90404421_90404423delinsCTA | CA2579772000 | CALM1 | c.328_330delinsCTA (p.Met110Leu) c.220_222delinsCTA (p.Met74Leu) c.331_333delinsCTA (p.Met111Leu) c.200_202delinsCTA (p.His67_Asp68delinsProAsn) c.221_223delinsCTA (p.His74_Asp75delinsProAsn) n.2458_2460delinsCTA n.380_382delinsCTA n.254_256delinsCTA c.166-36_166-34delinsCTA (n.166-36_166-34delinsCTA) | |
14 | g.90404421_90404423delinsCTT | CA2579773345 | CALM1 | c.328_330delinsCTT (p.Met110Leu) c.220_222delinsCTT (p.Met74Leu) c.331_333delinsCTT (p.Met111Leu) c.200_202delinsCTT (p.His67_Asp68delinsProTyr) c.221_223delinsCTT (p.His74_Asp75delinsProTyr) n.2458_2460delinsCTT n.380_382delinsCTT n.254_256delinsCTT c.166-36_166-34delinsCTT (n.166-36_166-34delinsCTT) | |
14 | g.90404421_90404423delinsGCC | CA2579771693 | CALM1 | c.328_330delinsGCC (p.Met110Ala) c.220_222delinsGCC (p.Met74Ala) c.331_333delinsGCC (p.Met111Ala) c.200_202delinsGCC (p.His67_Asp68delinsArgHis) c.221_223delinsGCC (p.His74_Asp75delinsArgHis) n.2458_2460delinsGCC n.380_382delinsGCC n.254_256delinsGCC c.166-36_166-34delinsGCC (n.166-36_166-34delinsGCC) | |
14 | g.90404421_90404423delinsGCT | CA2579772826 | CALM1 | c.328_330delinsGCT (p.Met110Ala) c.220_222delinsGCT (p.Met74Ala) c.331_333delinsGCT (p.Met111Ala) c.200_202delinsGCT (p.His67_Asp68delinsArgTyr) c.221_223delinsGCT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGCT n.380_382delinsGCT n.254_256delinsGCT c.166-36_166-34delinsGCT (n.166-36_166-34delinsGCT) | |
14 | g.90404421_90404423delinsGGT | CA2579770259 | CALM1 | c.328_330delinsGGT (p.Met110Gly) c.220_222delinsGGT (p.Met74Gly) c.331_333delinsGGT (p.Met111Gly) c.200_202delinsGGT (p.His67_Asp68delinsArgTyr) c.221_223delinsGGT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGGT n.380_382delinsGGT n.254_256delinsGGT c.166-36_166-34delinsGGT (n.166-36_166-34delinsGGT) | |
14 | g.90404421_90404423delinsGTA | CA2579773813 | CALM1 | c.328_330delinsGTA (p.Met110Val) c.220_222delinsGTA (p.Met74Val) c.331_333delinsGTA (p.Met111Val) c.200_202delinsGTA (p.His67_Asp68delinsArgAsn) c.221_223delinsGTA (p.His74_Asp75delinsArgAsn) n.2458_2460delinsGTA n.380_382delinsGTA n.254_256delinsGTA c.166-36_166-34delinsGTA (n.166-36_166-34delinsGTA) | |
14 | g.90404421_90404423delinsGTT | CA2579774309 | CALM1 | c.328_330delinsGTT (p.Met110Val) c.220_222delinsGTT (p.Met74Val) c.331_333delinsGTT (p.Met111Val) c.200_202delinsGTT (p.His67_Asp68delinsArgTyr) c.221_223delinsGTT (p.His74_Asp75delinsArgTyr) n.2458_2460delinsGTT n.380_382delinsGTT n.254_256delinsGTT c.166-36_166-34delinsGTT (n.166-36_166-34delinsGTT) | |
14 | g.90404421_90404423delinsTTA | CA2579770167 | CALM1 | c.328_330delinsTTA (p.Met110Leu) c.220_222delinsTTA (p.Met74Leu) c.331_333delinsTTA (p.Met111Leu) c.200_202delinsTTA (p.His67_Asp68delinsLeuAsn) c.221_223delinsTTA (p.His74_Asp75delinsLeuAsn) n.2458_2460delinsTTA n.380_382delinsTTA n.254_256delinsTTA c.166-36_166-34delinsTTA (n.166-36_166-34delinsTTA) | |
14 | g.90404421_90404423delinsTTT | CA2579770565 | CALM1 | c.328_330delinsTTT (p.Met110Phe) c.220_222delinsTTT (p.Met74Phe) c.331_333delinsTTT (p.Met111Phe) c.200_202delinsTTT (p.His67_Asp68delinsLeuTyr) c.221_223delinsTTT (p.His74_Asp75delinsLeuTyr) n.2458_2460delinsTTT n.380_382delinsTTT n.254_256delinsTTT c.166-36_166-34delinsTTT (n.166-36_166-34delinsTTT) | |
14 | g.90404422T>A | CA390690194 | CALM1 | c.329T>A (p.Met110Lys) c.221T>A (p.Met74Lys) c.332T>A (p.Met111Lys) c.201T>A (p.His67Gln) c.222T>A (p.His74Gln) n.2459T>A n.381T>A n.255T>A c.166-35T>A (n.166-35T>A) | |
14 | g.90404422T>C | CA390690195 | CALM1 | c.329T>C (p.Met110Thr) c.221T>C (p.Met74Thr) c.332T>C (p.Met111Thr) c.201T>C (p.His67=) c.222T>C (p.His74=) n.2459T>C n.381T>C n.255T>C c.166-35T>C (n.166-35T>C) | |
14 | g.90404422T>G | CA390690196 | CALM1 | c.329T>G (p.Met110Arg) c.221T>G (p.Met74Arg) c.332T>G (p.Met111Arg) c.201T>G (p.His67Gln) c.222T>G (p.His74Gln) n.2459T>G n.381T>G n.255T>G c.166-35T>G (n.166-35T>G) | |
14 | g.90404422_90404423delinsAT | CA2579773130 | CALM1 | c.329_330delinsAT (p.Met110Asn) c.221_222delinsAT (p.Met74Asn) c.332_333delinsAT (p.Met111Asn) c.201_202delinsAT (p.His67_Asp68delinsGlnTyr) c.222_223delinsAT (p.His74_Asp75delinsGlnTyr) n.2459_2460delinsAT n.381_382delinsAT n.255_256delinsAT c.166-35_166-34delinsAT (n.166-35_166-34delinsAT) | |
14 | g.90404422_90404423delinsCA | CA2579771868 | CALM1 | c.329_330delinsCA (p.Met110Thr) c.221_222delinsCA (p.Met74Thr) c.332_333delinsCA (p.Met111Thr) c.201_202delinsCA (p.Asp68Asn) c.222_223delinsCA (p.Asp75Asn) n.2459_2460delinsCA n.381_382delinsCA n.255_256delinsCA c.166-35_166-34delinsCA (n.166-35_166-34delinsCA) | |
14 | g.90404422_90404423delinsCC | CA2579771918 | CALM1 | c.329_330delinsCC (p.Met110Thr) c.221_222delinsCC (p.Met74Thr) c.332_333delinsCC (p.Met111Thr) c.201_202delinsCC (p.Asp68His) c.222_223delinsCC (p.Asp75His) n.2459_2460delinsCC n.381_382delinsCC n.255_256delinsCC c.166-35_166-34delinsCC (n.166-35_166-34delinsCC) | |
14 | g.90404422_90404423delinsCT | CA2579773637 | CALM1 | c.329_330delinsCT (p.Met110Thr) c.221_222delinsCT (p.Met74Thr) c.332_333delinsCT (p.Met111Thr) c.201_202delinsCT (p.Asp68Tyr) c.222_223delinsCT (p.Asp75Tyr) n.2459_2460delinsCT n.381_382delinsCT n.255_256delinsCT c.166-35_166-34delinsCT (n.166-35_166-34delinsCT) | |
14 | g.90404422_90404423delinsGT | CA2579773565 | CALM1 | c.329_330delinsGT (p.Met110Ser) c.221_222delinsGT (p.Met74Ser) c.332_333delinsGT (p.Met111Ser) c.201_202delinsGT (p.His67_Asp68delinsGlnTyr) c.222_223delinsGT (p.His74_Asp75delinsGlnTyr) n.2459_2460delinsGT n.381_382delinsGT n.255_256delinsGT c.166-35_166-34delinsGT (n.166-35_166-34delinsGT) | |
14 | g.90404423G>A | CA390690197 | CALM1 | c.330G>A (p.Met110Ile) c.222G>A (p.Met74Ile) c.333G>A (p.Met111Ile) c.202G>A (p.Asp68Asn) c.223G>A (p.Asp75Asn) n.2460G>A n.382G>A n.256G>A c.166-34G>A (n.166-34G>A) | |
14 | g.90404423G>C | CA390690198 | CALM1 | c.330G>C (p.Met110Ile) c.222G>C (p.Met74Ile) c.333G>C (p.Met111Ile) c.202G>C (p.Asp68His) c.223G>C (p.Asp75His) n.2460G>C n.382G>C n.256G>C c.166-34G>C (n.166-34G>C) | |
14 | g.90404423G>T | CA390690199 | CALM1 | c.330G>T (p.Met110Ile) c.222G>T (p.Met74Ile) c.333G>T (p.Met111Ile) c.202G>T (p.Asp68Tyr) c.223G>T (p.Asp75Tyr) n.2460G>T n.382G>T n.256G>T c.166-34G>T (n.166-34G>T) | |
14 | g.90404424A>C | CA390690200 | CALM1 | c.331A>C (p.Thr111Pro) c.223A>C (p.Thr75Pro) c.334A>C (p.Thr112Pro) c.203A>C (p.Asp68Ala) c.224A>C (p.Asp75Ala) n.2461A>C n.383A>C n.257A>C c.166-33A>C (n.166-33A>C) | |
14 | g.90404424A>G | CA390690201 | CALM1 | c.331A>G (p.Thr111Ala) c.223A>G (p.Thr75Ala) c.334A>G (p.Thr112Ala) c.203A>G (p.Asp68Gly) c.224A>G (p.Asp75Gly) n.2461A>G n.383A>G n.257A>G c.166-33A>G (n.166-33A>G) | |
14 | g.90404424A>T | CA390690202 | CALM1 | c.331A>T (p.Thr111Ser) c.223A>T (p.Thr75Ser) c.334A>T (p.Thr112Ser) c.203A>T (p.Asp68Val) c.224A>T (p.Asp75Val) n.2461A>T n.383A>T n.257A>T c.166-33A>T (n.166-33A>T) | |
14 | g.90404424_90404425delinsCG | CA2579770707 | CALM1 | c.331_332delinsCG (p.Thr111Arg) c.223_224delinsCG (p.Thr75Arg) c.334_335delinsCG (p.Thr112Arg) c.203_204delinsCG (p.Asp68Ala) c.224_225delinsCG (p.Asp75Ala) n.2461_2462delinsCG n.383_384delinsCG n.257_258delinsCG c.166-33_166-32delinsCG (n.166-33_166-32delinsCG) | |
14 | g.90404424_90404425delinsCT | CA2579772928 | CALM1 | c.331_332delinsCT (p.Thr111Leu) c.223_224delinsCT (p.Thr75Leu) c.334_335delinsCT (p.Thr112Leu) c.203_204delinsCT (p.Asp68Ala) c.224_225delinsCT (p.Asp75Ala) n.2461_2462delinsCT n.383_384delinsCT n.257_258delinsCT c.166-33_166-32delinsCT (n.166-33_166-32delinsCT) | |
14 | g.90404424_90404425delinsGA | CA2579771776 | CALM1 | c.331_332delinsGA (p.Thr111Glu) c.223_224delinsGA (p.Thr75Glu) c.334_335delinsGA (p.Thr112Glu) c.203_204delinsGA (p.Asp68Gly) c.224_225delinsGA (p.Asp75Gly) n.2461_2462delinsGA n.383_384delinsGA n.257_258delinsGA c.166-33_166-32delinsGA (n.166-33_166-32delinsGA) | |
14 | g.90404424_90404425delinsGG | CA2579770943 | CALM1 | c.331_332delinsGG (p.Thr111Gly) c.223_224delinsGG (p.Thr75Gly) c.334_335delinsGG (p.Thr112Gly) c.203_204delinsGG (p.Asp68Gly) c.224_225delinsGG (p.Asp75Gly) n.2461_2462delinsGG n.383_384delinsGG n.257_258delinsGG c.166-33_166-32delinsGG (n.166-33_166-32delinsGG) | |
14 | g.90404424_90404425delinsGT | CA2579770351 | CALM1 | c.331_332delinsGT (p.Thr111Val) c.223_224delinsGT (p.Thr75Val) c.334_335delinsGT (p.Thr112Val) c.203_204delinsGT (p.Asp68Gly) c.224_225delinsGT (p.Asp75Gly) n.2461_2462delinsGT n.383_384delinsGT n.257_258delinsGT c.166-33_166-32delinsGT (n.166-33_166-32delinsGT) | |
14 | g.90404424_90404425delinsTA | CA2579770871 | CALM1 | c.331_332delinsTA (p.Thr111Ter) c.223_224delinsTA (p.Thr75Ter) c.334_335delinsTA (p.Thr112Ter) c.203_204delinsTA (p.Asp68Val) c.224_225delinsTA (p.Asp75Val) n.2461_2462delinsTA n.383_384delinsTA n.257_258delinsTA c.166-33_166-32delinsTA (n.166-33_166-32delinsTA) | |
14 | g.90404424_90404425delinsTG | CA2579770875 | CALM1 | c.331_332delinsTG (p.Thr111Ter) c.223_224delinsTG (p.Thr75Ter) c.334_335delinsTG (p.Thr112Ter) c.203_204delinsTG (p.Asp68Val) c.224_225delinsTG (p.Asp75Val) n.2461_2462delinsTG n.383_384delinsTG n.257_258delinsTG c.166-33_166-32delinsTG (n.166-33_166-32delinsTG) | |
14 | g.90404424_90404425delinsTT | CA2579770053 | CALM1 | c.331_332delinsTT (p.Thr111Leu) c.223_224delinsTT (p.Thr75Leu) c.334_335delinsTT (p.Thr112Leu) c.203_204delinsTT (p.Asp68Val) c.224_225delinsTT (p.Asp75Val) n.2461_2462delinsTT n.383_384delinsTT n.257_258delinsTT c.166-33_166-32delinsTT (n.166-33_166-32delinsTT) | |
14 | g.90404424_90404426delinsCCG | CA2579772218 | CALM1 | c.331_333delinsCCG (p.Thr111Pro) c.223_225delinsCCG (p.Thr75Pro) c.334_336delinsCCG (p.Thr112Pro) c.203_205delinsCCG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCCG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCCG n.383_385delinsCCG n.257_259delinsCCG c.166-33_166-31delinsCCG (n.166-33_166-31delinsCCG) | |
14 | g.90404424_90404426delinsCCT | CA2579770284 | CALM1 | c.331_333delinsCCT (p.Thr111Pro) c.223_225delinsCCT (p.Thr75Pro) c.334_336delinsCCT (p.Thr112Pro) c.203_205delinsCCT (p.Asp68AlafsTer2) c.224_226delinsCCT (p.Asp75AlafsTer2) n.2461_2463delinsCCT n.383_385delinsCCT n.257_259delinsCCT c.166-33_166-31delinsCCT (n.166-33_166-31delinsCCT) | |
14 | g.90404424_90404426delinsCGG | CA2579771153 | CALM1 | c.331_333delinsCGG (p.Thr111Arg) c.223_225delinsCGG (p.Thr75Arg) c.334_336delinsCGG (p.Thr112Arg) c.203_205delinsCGG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCGG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCGG n.383_385delinsCGG n.257_259delinsCGG c.166-33_166-31delinsCGG (n.166-33_166-31delinsCGG) | |
14 | g.90404424_90404426delinsCGT | CA2579774031 | CALM1 | c.331_333delinsCGT (p.Thr111Arg) c.223_225delinsCGT (p.Thr75Arg) c.334_336delinsCGT (p.Thr112Arg) c.203_205delinsCGT (p.Asp68AlafsTer2) c.224_226delinsCGT (p.Asp75AlafsTer2) n.2461_2463delinsCGT n.383_385delinsCGT n.257_259delinsCGT c.166-33_166-31delinsCGT (n.166-33_166-31delinsCGT) | |
14 | g.90404424_90404426delinsCTG | CA2579773475 | CALM1 | c.331_333delinsCTG (p.Thr111Leu) c.223_225delinsCTG (p.Thr75Leu) c.334_336delinsCTG (p.Thr112Leu) c.203_205delinsCTG (p.Asp68_Lys69delinsAlaGlu) c.224_226delinsCTG (p.Asp75_Lys76delinsAlaGlu) n.2461_2463delinsCTG n.383_385delinsCTG n.257_259delinsCTG c.166-33_166-31delinsCTG (n.166-33_166-31delinsCTG) | |
14 | g.90404424_90404426delinsCTT | CA2579771704 | CALM1 | c.331_333delinsCTT (p.Thr111Leu) c.223_225delinsCTT (p.Thr75Leu) c.334_336delinsCTT (p.Thr112Leu) c.203_205delinsCTT (p.Asp68AlafsTer2) c.224_226delinsCTT (p.Asp75AlafsTer2) n.2461_2463delinsCTT n.383_385delinsCTT n.257_259delinsCTT c.166-33_166-31delinsCTT (n.166-33_166-31delinsCTT) | |
14 | g.90404424_90404426delinsGAG | CA2579773816 | CALM1 | c.331_333delinsGAG (p.Thr111Glu) c.223_225delinsGAG (p.Thr75Glu) c.334_336delinsGAG (p.Thr112Glu) c.203_205delinsGAG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGAG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGAG n.383_385delinsGAG n.257_259delinsGAG c.166-33_166-31delinsGAG (n.166-33_166-31delinsGAG) | |
14 | g.90404424_90404426delinsGAT | CA2579772858 | CALM1 | c.331_333delinsGAT (p.Thr111Asp) c.223_225delinsGAT (p.Thr75Asp) c.334_336delinsGAT (p.Thr112Asp) c.203_205delinsGAT (p.Asp68GlyfsTer2) c.224_226delinsGAT (p.Asp75GlyfsTer2) n.2461_2463delinsGAT n.383_385delinsGAT n.257_259delinsGAT c.166-33_166-31delinsGAT (n.166-33_166-31delinsGAT) | |
14 | g.90404424_90404426delinsGCC | CA2579770088 | CALM1 | c.331_333delinsGCC (p.Thr111Ala) c.223_225delinsGCC (p.Thr75Ala) c.334_336delinsGCC (p.Thr112Ala) c.203_205delinsGCC (p.Asp68_Lys69delinsGlyGln) c.224_226delinsGCC (p.Asp75_Lys76delinsGlyGln) n.2461_2463delinsGCC n.383_385delinsGCC n.257_259delinsGCC c.166-33_166-31delinsGCC (n.166-33_166-31delinsGCC) | |
14 | g.90404424_90404426delinsGCG | CA2579769846 | CALM1 | c.331_333delinsGCG (p.Thr111Ala) c.223_225delinsGCG (p.Thr75Ala) c.334_336delinsGCG (p.Thr112Ala) c.203_205delinsGCG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGCG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGCG n.383_385delinsGCG n.257_259delinsGCG c.166-33_166-31delinsGCG (n.166-33_166-31delinsGCG) | |
14 | g.90404424_90404426delinsGCT | CA2579773742 | CALM1 | c.331_333delinsGCT (p.Thr111Ala) c.223_225delinsGCT (p.Thr75Ala) c.334_336delinsGCT (p.Thr112Ala) c.203_205delinsGCT (p.Asp68GlyfsTer2) c.224_226delinsGCT (p.Asp75GlyfsTer2) n.2461_2463delinsGCT n.383_385delinsGCT n.257_259delinsGCT c.166-33_166-31delinsGCT (n.166-33_166-31delinsGCT) | |
14 | g.90404424_90404426delinsGGG | CA2579773640 | CALM1 | c.331_333delinsGGG (p.Thr111Gly) c.223_225delinsGGG (p.Thr75Gly) c.334_336delinsGGG (p.Thr112Gly) c.203_205delinsGGG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGGG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGGG n.383_385delinsGGG n.257_259delinsGGG c.166-33_166-31delinsGGG (n.166-33_166-31delinsGGG) | |
14 | g.90404424_90404426delinsGGT | CA2579773999 | CALM1 | c.331_333delinsGGT (p.Thr111Gly) c.223_225delinsGGT (p.Thr75Gly) c.334_336delinsGGT (p.Thr112Gly) c.203_205delinsGGT (p.Asp68GlyfsTer2) c.224_226delinsGGT (p.Asp75GlyfsTer2) n.2461_2463delinsGGT n.383_385delinsGGT n.257_259delinsGGT c.166-33_166-31delinsGGT (n.166-33_166-31delinsGGT) | |
14 | g.90404424_90404426delinsGTG | CA2579774080 | CALM1 | c.331_333delinsGTG (p.Thr111Val) c.223_225delinsGTG (p.Thr75Val) c.334_336delinsGTG (p.Thr112Val) c.203_205delinsGTG (p.Asp68_Lys69delinsGlyGlu) c.224_226delinsGTG (p.Asp75_Lys76delinsGlyGlu) n.2461_2463delinsGTG n.383_385delinsGTG n.257_259delinsGTG c.166-33_166-31delinsGTG (n.166-33_166-31delinsGTG) | |
14 | g.90404424_90404426delinsGTT | CA2579772637 | CALM1 | c.331_333delinsGTT (p.Thr111Val) c.223_225delinsGTT (p.Thr75Val) c.334_336delinsGTT (p.Thr112Val) c.203_205delinsGTT (p.Asp68GlyfsTer2) c.224_226delinsGTT (p.Asp75GlyfsTer2) n.2461_2463delinsGTT n.383_385delinsGTT n.257_259delinsGTT c.166-33_166-31delinsGTT (n.166-33_166-31delinsGTT) | |
14 | g.90404424_90404426delinsTAG | CA2579772910 | CALM1 | c.331_333delinsTAG (p.Thr111Ter) c.223_225delinsTAG (p.Thr75Ter) c.334_336delinsTAG (p.Thr112Ter) c.203_205delinsTAG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTAG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTAG n.383_385delinsTAG n.257_259delinsTAG c.166-33_166-31delinsTAG (n.166-33_166-31delinsTAG) | |
14 | g.90404424_90404426delinsTAT | CA2579770950 | CALM1 | c.331_333delinsTAT (p.Thr111Tyr) c.223_225delinsTAT (p.Thr75Tyr) c.334_336delinsTAT (p.Thr112Tyr) c.203_205delinsTAT (p.Asp68ValfsTer2) c.224_226delinsTAT (p.Asp75ValfsTer2) n.2461_2463delinsTAT n.383_385delinsTAT n.257_259delinsTAT c.166-33_166-31delinsTAT (n.166-33_166-31delinsTAT) | |
14 | g.90404424_90404426delinsTCC | CA2579773803 | CALM1 | c.331_333delinsTCC (p.Thr111Ser) c.223_225delinsTCC (p.Thr75Ser) c.334_336delinsTCC (p.Thr112Ser) c.203_205delinsTCC (p.Asp68_Lys69delinsValGln) c.224_226delinsTCC (p.Asp75_Lys76delinsValGln) n.2461_2463delinsTCC n.383_385delinsTCC n.257_259delinsTCC c.166-33_166-31delinsTCC (n.166-33_166-31delinsTCC) | |
14 | g.90404424_90404426delinsTCG | CA2579770155 | CALM1 | c.331_333delinsTCG (p.Thr111Ser) c.223_225delinsTCG (p.Thr75Ser) c.334_336delinsTCG (p.Thr112Ser) c.203_205delinsTCG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTCG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTCG n.383_385delinsTCG n.257_259delinsTCG c.166-33_166-31delinsTCG (n.166-33_166-31delinsTCG) | |
14 | g.90404424_90404426delinsTCT | CA2579770549 | CALM1 | c.331_333delinsTCT (p.Thr111Ser) c.223_225delinsTCT (p.Thr75Ser) c.334_336delinsTCT (p.Thr112Ser) c.203_205delinsTCT (p.Asp68ValfsTer2) c.224_226delinsTCT (p.Asp75ValfsTer2) n.2461_2463delinsTCT n.383_385delinsTCT n.257_259delinsTCT c.166-33_166-31delinsTCT (n.166-33_166-31delinsTCT) | |
14 | g.90404424_90404426delinsTGG | CA2579771271 | CALM1 | c.331_333delinsTGG (p.Thr111Trp) c.223_225delinsTGG (p.Thr75Trp) c.334_336delinsTGG (p.Thr112Trp) c.203_205delinsTGG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTGG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTGG n.383_385delinsTGG n.257_259delinsTGG c.166-33_166-31delinsTGG (n.166-33_166-31delinsTGG) | |
14 | g.90404424_90404426delinsTGT | CA2579772854 | CALM1 | c.331_333delinsTGT (p.Thr111Cys) c.223_225delinsTGT (p.Thr75Cys) c.334_336delinsTGT (p.Thr112Cys) c.203_205delinsTGT (p.Asp68ValfsTer2) c.224_226delinsTGT (p.Asp75ValfsTer2) n.2461_2463delinsTGT n.383_385delinsTGT n.257_259delinsTGT c.166-33_166-31delinsTGT (n.166-33_166-31delinsTGT) | |
14 | g.90404424_90404426delinsTTG | CA2579773001 | CALM1 | c.331_333delinsTTG (p.Thr111Leu) c.223_225delinsTTG (p.Thr75Leu) c.334_336delinsTTG (p.Thr112Leu) c.203_205delinsTTG (p.Asp68_Lys69delinsValGlu) c.224_226delinsTTG (p.Asp75_Lys76delinsValGlu) n.2461_2463delinsTTG n.383_385delinsTTG n.257_259delinsTTG c.166-33_166-31delinsTTG (n.166-33_166-31delinsTTG) | |
14 | g.90404424_90404426delinsTTT | CA2579773256 | CALM1 | c.331_333delinsTTT (p.Thr111Phe) c.223_225delinsTTT (p.Thr75Phe) c.334_336delinsTTT (p.Thr112Phe) c.203_205delinsTTT (p.Asp68ValfsTer2) c.224_226delinsTTT (p.Asp75ValfsTer2) n.2461_2463delinsTTT n.383_385delinsTTT n.257_259delinsTTT c.166-33_166-31delinsTTT (n.166-33_166-31delinsTTT) | |
14 | g.90404425C>A | CA390690204 | CALM1 | c.332C>A (p.Thr111Lys) c.224C>A (p.Thr75Lys) c.335C>A (p.Thr112Lys) c.204C>A (p.Asp68Glu) c.225C>A (p.Asp75Glu) n.2462C>A n.384C>A n.258C>A c.166-32C>A (n.166-32C>A) | |
14 | g.90404425C>G | CA390690205 | CALM1 | c.332C>G (p.Thr111Arg) c.224C>G (p.Thr75Arg) c.335C>G (p.Thr112Arg) c.204C>G (p.Asp68Glu) c.225C>G (p.Asp75Glu) n.2462C>G n.384C>G n.258C>G c.166-32C>G (n.166-32C>G) | |
14 | g.90404425C>T | CA390690203 | CALM1 | c.332C>T (p.Thr111Ile) c.224C>T (p.Thr75Ile) c.335C>T (p.Thr112Ile) c.204C>T (p.Asp68=) c.225C>T (p.Asp75=) n.2462C>T n.384C>T n.258C>T c.166-32C>T (n.166-32C>T) | |
14 | g.90404425_90404426delinsAG | CA2579770097 | CALM1 | c.332_333delinsAG (p.Thr111Lys) c.224_225delinsAG (p.Thr75Lys) c.335_336delinsAG (p.Thr112Lys) c.204_205delinsAG (p.Asp68_Lys69delinsGluGlu) c.225_226delinsAG (p.Asp75_Lys76delinsGluGlu) n.2462_2463delinsAG n.384_385delinsAG n.258_259delinsAG c.166-32_166-31delinsAG (n.166-32_166-31delinsAG) | |
14 | g.90404425_90404426delinsAT | CA2579770805 | CALM1 | c.332_333delinsAT (p.Thr111Asn) c.224_225delinsAT (p.Thr75Asn) c.335_336delinsAT (p.Thr112Asn) c.204_205delinsAT (p.Asp68GlufsTer2) c.225_226delinsAT (p.Asp75GlufsTer2) n.2462_2463delinsAT n.384_385delinsAT n.258_259delinsAT c.166-32_166-31delinsAT (n.166-32_166-31delinsAT) | |
14 | g.90404425_90404426delinsGG | CA2579773806 | CALM1 | c.332_333delinsGG (p.Thr111Arg) c.224_225delinsGG (p.Thr75Arg) c.335_336delinsGG (p.Thr112Arg) c.204_205delinsGG (p.Asp68_Lys69delinsGluGlu) c.225_226delinsGG (p.Asp75_Lys76delinsGluGlu) n.2462_2463delinsGG n.384_385delinsGG n.258_259delinsGG c.166-32_166-31delinsGG (n.166-32_166-31delinsGG) | |
14 | g.90404425_90404426delinsGT | CA2579772701 | CALM1 | c.332_333delinsGT (p.Thr111Ser) c.224_225delinsGT (p.Thr75Ser) c.335_336delinsGT (p.Thr112Ser) c.204_205delinsGT (p.Asp68GlufsTer2) c.225_226delinsGT (p.Asp75GlufsTer2) n.2462_2463delinsGT n.384_385delinsGT n.258_259delinsGT c.166-32_166-31delinsGT (n.166-32_166-31delinsGT) | |
14 | g.90404425_90404426delinsTG | CA2579770558 | CALM1 | c.332_333delinsTG (p.Thr111Met) c.224_225delinsTG (p.Thr75Met) c.335_336delinsTG (p.Thr112Met) c.204_205delinsTG (p.Lys69Glu) c.225_226delinsTG (p.Lys76Glu) n.2462_2463delinsTG n.384_385delinsTG n.258_259delinsTG c.166-32_166-31delinsTG (n.166-32_166-31delinsTG) | |
14 | g.90404425_90404426delinsTT | CA2579772175 | CALM1 | c.332_333delinsTT (p.Thr111Ile) c.224_225delinsTT (p.Thr75Ile) c.335_336delinsTT (p.Thr112Ile) c.204_205delinsTT (p.Asp69Ter) c.225_226delinsTT (p.Asp76Ter) n.2462_2463delinsTT n.384_385delinsTT n.258_259delinsTT c.166-32_166-31delinsTT (n.166-32_166-31delinsTT) | |
14 | g.90404426A>C | CA487760166 | CALM1 | c.333A>C (p.Thr111=) c.225A>C (p.Thr75=) c.336A>C (p.Thr112=) c.205A>C (p.Lys69Gln) c.226A>C (p.Lys76Gln) n.2463A>C n.385A>C n.259A>C c.166-31A>C (n.166-31A>C) | gnomAD v4 |
14 | g.90404426A>G | CA487760169 | CALM1 | c.333A>G (p.Thr111=) c.225A>G (p.Thr75=) c.336A>G (p.Thr112=) c.205A>G (p.Lys69Glu) c.226A>G (p.Lys76Glu) n.2463A>G n.385A>G n.259A>G c.166-31A>G (n.166-31A>G) | |
14 | g.90404426A>T | CA487760171 | CALM1 | c.333A>T (p.Thr111=) c.225A>T (p.Thr75=) c.336A>T (p.Thr112=) c.205A>T (p.Lys69Ter) c.226A>T (p.Lys76Ter) n.2463A>T n.385A>T n.259A>T c.166-31A>T (n.166-31A>T) | |
14 | g.90404427A>C | CA390690206 | CALM1 | c.334A>C (p.Asn112His) c.226A>C (p.Asn76His) c.337A>C (p.Asn113His) c.206A>C (p.Lys69Thr) c.227A>C (p.Lys76Thr) n.2464A>C n.386A>C n.260A>C c.166-30A>C (n.166-30A>C) | |
14 | g.90404427A>G | CA390690207 | CALM1 | c.334A>G (p.Asn112Asp) c.226A>G (p.Asn76Asp) c.337A>G (p.Asn113Asp) c.206A>G (p.Lys69Arg) c.227A>G (p.Lys76Arg) n.2464A>G n.386A>G n.260A>G c.166-30A>G (n.166-30A>G) | |
14 | g.90404427A>T | CA390690208 | CALM1 | c.334A>T (p.Asn112Tyr) c.226A>T (p.Asn76Tyr) c.337A>T (p.Asn113Tyr) c.206A>T (p.Lys69Ile) c.227A>T (p.Lys76Ile) n.2464A>T n.386A>T n.260A>T c.166-30A>T (n.166-30A>T) | |
14 | g.90404427_90404428delinsCG | CA2579773748 | CALM1 | c.334_335delinsCG (p.Asn112Arg) c.226_227delinsCG (p.Asn76Arg) c.337_338delinsCG (p.Asn113Arg) c.206_207delinsCG (p.Lys69Thr) c.227_228delinsCG (p.Lys76Thr) n.2464_2465delinsCG n.386_387delinsCG n.260_261delinsCG c.166-30_166-29delinsCG (n.166-30_166-29delinsCG) | |
14 | g.90404427_90404428delinsCT | CA2579772012 | CALM1 | c.334_335delinsCT (p.Asn112Leu) c.226_227delinsCT (p.Asn76Leu) c.337_338delinsCT (p.Asn113Leu) c.206_207delinsCT (p.Lys69Thr) c.227_228delinsCT (p.Lys76Thr) n.2464_2465delinsCT n.386_387delinsCT n.260_261delinsCT c.166-30_166-29delinsCT (n.166-30_166-29delinsCT) | |
14 | g.90404427_90404428delinsGC | CA2579772085 | CALM1 | c.334_335delinsGC (p.Asn112Ala) c.226_227delinsGC (p.Asn76Ala) c.337_338delinsGC (p.Asn113Ala) c.206_207delinsGC (p.Lys69Ser) c.227_228delinsGC (p.Lys76Ser) n.2464_2465delinsGC n.386_387delinsGC n.260_261delinsGC c.166-30_166-29delinsGC (n.166-30_166-29delinsGC) | |
14 | g.90404427_90404428delinsGG | CA2579769972 | CALM1 | c.334_335delinsGG (p.Asn112Gly) c.226_227delinsGG (p.Asn76Gly) c.337_338delinsGG (p.Asn113Gly) c.206_207delinsGG (p.Lys69Arg) c.227_228delinsGG (p.Lys76Arg) n.2464_2465delinsGG n.386_387delinsGG n.260_261delinsGG c.166-30_166-29delinsGG (n.166-30_166-29delinsGG) | |
14 | g.90404427_90404428delinsTC | CA2579774097 | CALM1 | c.334_335delinsTC (p.Asn112Ser) c.226_227delinsTC (p.Asn76Ser) c.337_338delinsTC (p.Asn113Ser) c.206_207delinsTC (p.Lys69Ile) c.227_228delinsTC (p.Lys76Ile) n.2464_2465delinsTC n.386_387delinsTC n.260_261delinsTC c.166-30_166-29delinsTC (n.166-30_166-29delinsTC) | |
14 | g.90404427_90404428delinsTG | CA2579772493 | CALM1 | c.334_335delinsTG (p.Asn112Cys) c.226_227delinsTG (p.Asn76Cys) c.337_338delinsTG (p.Asn113Cys) c.206_207delinsTG (p.Lys69Met) c.227_228delinsTG (p.Lys76Met) n.2464_2465delinsTG n.386_387delinsTG n.260_261delinsTG c.166-30_166-29delinsTG (n.166-30_166-29delinsTG) | |
14 | g.90404427_90404428delinsTT | CA2579771358 | CALM1 | c.334_335delinsTT (p.Asn112Phe) c.226_227delinsTT (p.Asn76Phe) c.337_338delinsTT (p.Asn113Phe) c.206_207delinsTT (p.Lys69Ile) c.227_228delinsTT (p.Lys76Ile) n.2464_2465delinsTT n.386_387delinsTT n.260_261delinsTT c.166-30_166-29delinsTT (n.166-30_166-29delinsTT) | |
14 | g.90404427_90404429delinsCAT | CA2579770676 | CALM1 | c.334_336delinsCAT (p.Asn112His) c.226_228delinsCAT (p.Asn76His) c.337_339delinsCAT (p.Asn113His) c.206_208delinsCAT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCAT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCAT n.386_388delinsCAT n.260_262delinsCAT c.166-30_166-28delinsCAT (n.166-30_166-28delinsCAT) | |
14 | g.90404427_90404429delinsCCT | CA2579772879 | CALM1 | c.334_336delinsCCT (p.Asn112Pro) c.226_228delinsCCT (p.Asn76Pro) c.337_339delinsCCT (p.Asn113Pro) c.206_208delinsCCT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCCT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCCT n.386_388delinsCCT n.260_262delinsCCT c.166-30_166-28delinsCCT (n.166-30_166-28delinsCCT) | |
14 | g.90404427_90404429delinsCGT | CA2579771685 | CALM1 | c.334_336delinsCGT (p.Asn112Arg) c.226_228delinsCGT (p.Asn76Arg) c.337_339delinsCGT (p.Asn113Arg) c.206_208delinsCGT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCGT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCGT n.386_388delinsCGT n.260_262delinsCGT c.166-30_166-28delinsCGT (n.166-30_166-28delinsCGT) | |
14 | g.90404427_90404429delinsCTT | CA2579774192 | CALM1 | c.334_336delinsCTT (p.Asn112Leu) c.226_228delinsCTT (p.Asn76Leu) c.337_339delinsCTT (p.Asn113Leu) c.206_208delinsCTT (p.Lys69_Leu70delinsThrPhe) c.227_229delinsCTT (p.Lys76_Leu77delinsThrPhe) n.2464_2466delinsCTT n.386_388delinsCTT n.260_262delinsCTT c.166-30_166-28delinsCTT (n.166-30_166-28delinsCTT) | |
14 | g.90404427_90404429delinsGAT | CA2579771110 | CALM1 | c.334_336delinsGAT (p.Asn112Asp) c.226_228delinsGAT (p.Asn76Asp) c.337_339delinsGAT (p.Asn113Asp) c.206_208delinsGAT (p.Lys69_Leu70delinsArgPhe) c.227_229delinsGAT (p.Lys76_Leu77delinsArgPhe) n.2464_2466delinsGAT n.386_388delinsGAT n.260_262delinsGAT c.166-30_166-28delinsGAT (n.166-30_166-28delinsGAT) | |
14 | g.90404427_90404429delinsGCT | CA2579772809 | CALM1 | c.334_336delinsGCT (p.Asn112Ala) c.226_228delinsGCT (p.Asn76Ala) c.337_339delinsGCT (p.Asn113Ala) c.206_208delinsGCT (p.Lys69_Leu70delinsSerPhe) c.227_229delinsGCT (p.Lys76_Leu77delinsSerPhe) n.2464_2466delinsGCT n.386_388delinsGCT n.260_262delinsGCT c.166-30_166-28delinsGCT (n.166-30_166-28delinsGCT) | |
14 | g.90404427_90404429delinsGGT | CA2579772338 | CALM1 | c.334_336delinsGGT (p.Asn112Gly) c.226_228delinsGGT (p.Asn76Gly) c.337_339delinsGGT (p.Asn113Gly) c.206_208delinsGGT (p.Lys69_Leu70delinsArgPhe) c.227_229delinsGGT (p.Lys76_Leu77delinsArgPhe) n.2464_2466delinsGGT n.386_388delinsGGT n.260_262delinsGGT c.166-30_166-28delinsGGT (n.166-30_166-28delinsGGT) | |
14 | g.90404427_90404429delinsTAG | CA2579774310 | CALM1 | c.334_336delinsTAG (p.Asn112Ter) c.226_228delinsTAG (p.Asn76Ter) c.337_339delinsTAG (p.Asn113Ter) c.206_208delinsTAG (p.Lys69_Leu70delinsIleVal) c.227_229delinsTAG (p.Lys76_Leu77delinsIleVal) n.2464_2466delinsTAG n.386_388delinsTAG n.260_262delinsTAG c.166-30_166-28delinsTAG (n.166-30_166-28delinsTAG) | |
14 | g.90404427_90404429delinsTAT | CA2579773779 | CALM1 | c.334_336delinsTAT (p.Asn112Tyr) c.226_228delinsTAT (p.Asn76Tyr) c.337_339delinsTAT (p.Asn113Tyr) c.206_208delinsTAT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTAT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTAT n.386_388delinsTAT n.260_262delinsTAT c.166-30_166-28delinsTAT (n.166-30_166-28delinsTAT) | |
14 | g.90404427_90404429delinsTCT | CA2579772508 | CALM1 | c.334_336delinsTCT (p.Asn112Ser) c.226_228delinsTCT (p.Asn76Ser) c.337_339delinsTCT (p.Asn113Ser) c.206_208delinsTCT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTCT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTCT n.386_388delinsTCT n.260_262delinsTCT c.166-30_166-28delinsTCT (n.166-30_166-28delinsTCT) | |
14 | g.90404427_90404429delinsTGT | CA2579770624 | CALM1 | c.334_336delinsTGT (p.Asn112Cys) c.226_228delinsTGT (p.Asn76Cys) c.337_339delinsTGT (p.Asn113Cys) c.206_208delinsTGT (p.Lys69_Leu70delinsMetPhe) c.227_229delinsTGT (p.Lys76_Leu77delinsMetPhe) n.2464_2466delinsTGT n.386_388delinsTGT n.260_262delinsTGT c.166-30_166-28delinsTGT (n.166-30_166-28delinsTGT) | |
14 | g.90404427_90404429delinsTTT | CA2579772159 | CALM1 | c.334_336delinsTTT (p.Asn112Phe) c.226_228delinsTTT (p.Asn76Phe) c.337_339delinsTTT (p.Asn113Phe) c.206_208delinsTTT (p.Lys69_Leu70delinsIlePhe) c.227_229delinsTTT (p.Lys76_Leu77delinsIlePhe) n.2464_2466delinsTTT n.386_388delinsTTT n.260_262delinsTTT c.166-30_166-28delinsTTT (n.166-30_166-28delinsTTT) | |
14 | g.90404428A>C | CA390690209 | CALM1 | c.335A>C (p.Asn112Thr) c.227A>C (p.Asn76Thr) c.338A>C (p.Asn113Thr) c.207A>C (p.Lys69Asn) c.228A>C (p.Lys76Asn) n.2465A>C n.387A>C n.261A>C c.166-29A>C (n.166-29A>C) | |
14 | g.90404428A>G | CA390690210 | CALM1 | c.335A>G (p.Asn112Ser) c.227A>G (p.Asn76Ser) c.338A>G (p.Asn113Ser) c.207A>G (p.Lys69=) c.228A>G (p.Lys76=) n.2465A>G n.387A>G n.261A>G c.166-29A>G (n.166-29A>G) | |
14 | g.90404428A>T | CA390690211 | CALM1 | c.335A>T (p.Asn112Ile) c.227A>T (p.Asn76Ile) c.338A>T (p.Asn113Ile) c.207A>T (p.Lys69Asn) c.228A>T (p.Lys76Asn) n.2465A>T n.387A>T n.261A>T c.166-29A>T (n.166-29A>T) | |
14 | g.90404428_90404429delinsCT | CA2579770532 | CALM1 | c.335_336delinsCT (p.Asn112Thr) c.227_228delinsCT (p.Asn76Thr) c.338_339delinsCT (p.Asn113Thr) c.207_208delinsCT (p.Lys69_Leu70delinsAsnPhe) c.228_229delinsCT (p.Lys76_Leu77delinsAsnPhe) n.2465_2466delinsCT n.387_388delinsCT n.261_262delinsCT c.166-29_166-28delinsCT (n.166-29_166-28delinsCT) | |
14 | g.90404428_90404429delinsGA | CA2579772822 | CALM1 | c.335_336delinsGA (p.Asn112Arg) c.227_228delinsGA (p.Asn76Arg) c.338_339delinsGA (p.Asn113Arg) c.207_208delinsGA (p.Leu70Ile) c.228_229delinsGA (p.Leu77Ile) n.2465_2466delinsGA n.387_388delinsGA n.261_262delinsGA c.166-29_166-28delinsGA (n.166-29_166-28delinsGA) | |
14 | g.90404428_90404429delinsGG | CA2579773138 | CALM1 | c.335_336delinsGG (p.Asn112Arg) c.227_228delinsGG (p.Asn76Arg) c.338_339delinsGG (p.Asn113Arg) c.207_208delinsGG (p.Leu70Val) c.228_229delinsGG (p.Leu77Val) n.2465_2466delinsGG n.387_388delinsGG n.261_262delinsGG c.166-29_166-28delinsGG (n.166-29_166-28delinsGG) | |
14 | g.90404428_90404429delinsGT | CA2579771820 | CALM1 | c.335_336delinsGT (p.Asn112Ser) c.227_228delinsGT (p.Asn76Ser) c.338_339delinsGT (p.Asn113Ser) c.207_208delinsGT (p.Leu70Phe) c.228_229delinsGT (p.Leu77Phe) n.2465_2466delinsGT n.387_388delinsGT n.261_262delinsGT c.166-29_166-28delinsGT (n.166-29_166-28delinsGT) | |
14 | g.90404428_90404429delinsTA | CA2579774015 | CALM1 | c.335_336delinsTA (p.Asn112Ile) c.227_228delinsTA (p.Asn76Ile) c.338_339delinsTA (p.Asn113Ile) c.207_208delinsTA (p.Lys69_Leu70delinsAsnIle) c.228_229delinsTA (p.Lys76_Leu77delinsAsnIle) n.2465_2466delinsTA n.387_388delinsTA n.261_262delinsTA c.166-29_166-28delinsTA (n.166-29_166-28delinsTA) | |
14 | g.90404428_90404429delinsTT | CA2579769891 | CALM1 | c.335_336delinsTT (p.Asn112Ile) c.227_228delinsTT (p.Asn76Ile) c.338_339delinsTT (p.Asn113Ile) c.207_208delinsTT (p.Lys69_Leu70delinsAsnPhe) c.228_229delinsTT (p.Lys76_Leu77delinsAsnPhe) n.2465_2466delinsTT n.387_388delinsTT n.261_262delinsTT c.166-29_166-28delinsTT (n.166-29_166-28delinsTT) | |
14 | g.90404429C>A | CA390690212 | CALM1 | c.336C>A (p.Asn112Lys) c.228C>A (p.Asn76Lys) c.339C>A (p.Asn113Lys) c.208C>A (p.Leu70Ile) c.229C>A (p.Leu77Ile) n.2466C>A n.388C>A n.262C>A c.166-28C>A (n.166-28C>A) | |
14 | g.90404429C= | CA2154484120 | CALM1 | c.336C= (p.Asn112=) c.228C= (p.Asn76=) c.339C= (p.Asn113=) c.208C= (p.Leu70=) c.229C= (p.Leu77=) n.2466C= n.388C= n.262C= c.166-28C= (n.166-28C=) | |
14 | g.90404429C>G | CA390690213 | CALM1 | c.336C>G (p.Asn112Lys) c.228C>G (p.Asn76Lys) c.339C>G (p.Asn113Lys) c.208C>G (p.Leu70Val) c.229C>G (p.Leu77Val) n.2466C>G n.388C>G n.262C>G c.166-28C>G (n.166-28C>G) | |
14 | g.90404429C>T | CA7305798 | CALM1 | c.336C>T (p.Asn112=) c.228C>T (p.Asn76=) c.339C>T (p.Asn113=) c.208C>T (p.Leu70Phe) c.229C>T (p.Leu77Phe) n.2466C>T n.388C>T n.262C>T c.166-28C>T (n.166-28C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.90404430T>A | CA390690214 | CALM1 | c.337T>A (p.Leu113Ile) c.229T>A (p.Leu77Ile) c.340T>A (p.Leu114Ile) c.209T>A (p.Leu70His) c.230T>A (p.Leu77His) n.2467T>A n.389T>A n.263T>A c.166-27T>A (n.166-27T>A) | |
14 | g.90404430T>C | CA487760187 | CALM1 | c.337T>C (p.Leu113=) c.229T>C (p.Leu77=) c.340T>C (p.Leu114=) c.209T>C (p.Leu70Pro) c.230T>C (p.Leu77Pro) n.2467T>C n.389T>C n.263T>C c.166-27T>C (n.166-27T>C) | |
14 | g.90404430T>G | CA390690215 | CALM1 | c.337T>G (p.Leu113Val) c.229T>G (p.Leu77Val) c.340T>G (p.Leu114Val) c.209T>G (p.Leu70Arg) c.230T>G (p.Leu77Arg) n.2467T>G n.389T>G n.263T>G c.166-27T>G (n.166-27T>G) | |
14 | g.90404430_90404431delinsAA | CA2579771945 | CALM1 | c.337_338delinsAA (p.Leu113Lys) c.229_230delinsAA (p.Leu77Lys) c.340_341delinsAA (p.Leu114Lys) c.209_210delinsAA (p.Leu70Gln) c.230_231delinsAA (p.Leu77Gln) n.2467_2468delinsAA n.389_390delinsAA n.263_264delinsAA c.166-27_166-26delinsAA (n.166-27_166-26delinsAA) | |
14 | g.90404430_90404431delinsAC | CA2579772134 | CALM1 | c.337_338delinsAC (p.Leu113Thr) c.229_230delinsAC (p.Leu77Thr) c.340_341delinsAC (p.Leu114Thr) c.209_210delinsAC (p.Leu70His) c.230_231delinsAC (p.Leu77His) n.2467_2468delinsAC n.389_390delinsAC n.263_264delinsAC c.166-27_166-26delinsAC (n.166-27_166-26delinsAC) | |
14 | g.90404430_90404431delinsAG | CA2579771033 | CALM1 | c.337_338delinsAG (p.Leu113Arg) c.229_230delinsAG (p.Leu77Arg) c.340_341delinsAG (p.Leu114Arg) c.209_210delinsAG (p.Leu70Gln) c.230_231delinsAG (p.Leu77Gln) n.2467_2468delinsAG n.389_390delinsAG n.263_264delinsAG c.166-27_166-26delinsAG (n.166-27_166-26delinsAG) | |
14 | g.90404430_90404431delinsCA | CA2579773405 | CALM1 | c.337_338delinsCA (p.Leu113Gln) c.229_230delinsCA (p.Leu77Gln) c.340_341delinsCA (p.Leu114Gln) c.209_210delinsCA (p.Leu70Pro) c.230_231delinsCA (p.Leu77Pro) n.2467_2468delinsCA n.389_390delinsCA n.263_264delinsCA c.166-27_166-26delinsCA (n.166-27_166-26delinsCA) | |
14 | g.90404430_90404431delinsCC | CA2579770072 | CALM1 | c.337_338delinsCC (p.Leu113Pro) c.229_230delinsCC (p.Leu77Pro) c.340_341delinsCC (p.Leu114Pro) c.209_210delinsCC (p.Leu70Pro) c.230_231delinsCC (p.Leu77Pro) n.2467_2468delinsCC n.389_390delinsCC n.263_264delinsCC c.166-27_166-26delinsCC (n.166-27_166-26delinsCC) | |
14 | g.90404430_90404431delinsCG | CA2579773547 | CALM1 | c.337_338delinsCG (p.Leu113Arg) c.229_230delinsCG (p.Leu77Arg) c.340_341delinsCG (p.Leu114Arg) c.209_210delinsCG (p.Leu70Pro) c.230_231delinsCG (p.Leu77Pro) n.2467_2468delinsCG n.389_390delinsCG n.263_264delinsCG c.166-27_166-26delinsCG (n.166-27_166-26delinsCG) | |
14 | g.90404430_90404431delinsGA | CA2579772995 | CALM1 | c.337_338delinsGA (p.Leu113Glu) c.229_230delinsGA (p.Leu77Glu) c.340_341delinsGA (p.Leu114Glu) c.209_210delinsGA (p.Leu70Arg) c.230_231delinsGA (p.Leu77Arg) n.2467_2468delinsGA n.389_390delinsGA n.263_264delinsGA c.166-27_166-26delinsGA (n.166-27_166-26delinsGA) | |
14 | g.90404430_90404431delinsGC | CA2579772061 | CALM1 | c.337_338delinsGC (p.Leu113Ala) c.229_230delinsGC (p.Leu77Ala) c.340_341delinsGC (p.Leu114Ala) c.209_210delinsGC (p.Leu70Arg) c.230_231delinsGC (p.Leu77Arg) n.2467_2468delinsGC n.389_390delinsGC n.263_264delinsGC c.166-27_166-26delinsGC (n.166-27_166-26delinsGC) | |
14 | g.90404430_90404431delinsGG | CA2579773220 | CALM1 | c.337_338delinsGG (p.Leu113Gly) c.229_230delinsGG (p.Leu77Gly) c.340_341delinsGG (p.Leu114Gly) c.209_210delinsGG (p.Leu70Arg) c.230_231delinsGG (p.Leu77Arg) n.2467_2468delinsGG n.389_390delinsGG n.263_264delinsGG c.166-27_166-26delinsGG (n.166-27_166-26delinsGG) | |
14 | g.90404430_90404432delinsAAG | CA2579770454 | CALM1 | c.337_339delinsAAG (p.Leu113Lys) c.229_231delinsAAG (p.Leu77Lys) c.340_342delinsAAG (p.Leu114Lys) c.209_211delinsAAG (p.Leu70_Arg71delinsGlnGly) c.230_232delinsAAG (p.Leu77_Arg78delinsGlnGly) n.2467_2469delinsAAG n.389_391delinsAAG n.263_265delinsAAG c.166-27_166-25delinsAAG (n.166-27_166-25delinsAAG) | |
14 | g.90404430_90404432delinsAAT | CA2579774024 | CALM1 | c.337_339delinsAAT (p.Leu113Asn) c.229_231delinsAAT (p.Leu77Asn) c.340_342delinsAAT (p.Leu114Asn) c.209_211delinsAAT (p.Leu70_Arg71delinsGlnTrp) c.230_232delinsAAT (p.Leu77_Arg78delinsGlnTrp) n.2467_2469delinsAAT n.389_391delinsAAT n.263_265delinsAAT c.166-27_166-25delinsAAT (n.166-27_166-25delinsAAT) | |
14 | g.90404430_90404432delinsACG | CA2579772485 | CALM1 | c.337_339delinsACG (p.Leu113Thr) c.229_231delinsACG (p.Leu77Thr) c.340_342delinsACG (p.Leu114Thr) c.209_211delinsACG (p.Leu70_Arg71delinsHisGly) c.230_232delinsACG (p.Leu77_Arg78delinsHisGly) n.2467_2469delinsACG n.389_391delinsACG n.263_265delinsACG c.166-27_166-25delinsACG (n.166-27_166-25delinsACG) | |
14 | g.90404430_90404432delinsACT | CA2579769739 | CALM1 | c.337_339delinsACT (p.Leu113Thr) c.229_231delinsACT (p.Leu77Thr) c.340_342delinsACT (p.Leu114Thr) c.209_211delinsACT (p.Leu70_Arg71delinsHisTrp) c.230_232delinsACT (p.Leu77_Arg78delinsHisTrp) n.2467_2469delinsACT n.389_391delinsACT n.263_265delinsACT c.166-27_166-25delinsACT (n.166-27_166-25delinsACT) | |
14 | g.90404430_90404432delinsAGG | CA2579771896 | CALM1 | c.337_339delinsAGG (p.Leu113Arg) c.229_231delinsAGG (p.Leu77Arg) c.340_342delinsAGG (p.Leu114Arg) c.209_211delinsAGG (p.Leu70_Arg71delinsGlnGly) c.230_232delinsAGG (p.Leu77_Arg78delinsGlnGly) n.2467_2469delinsAGG n.389_391delinsAGG n.263_265delinsAGG c.166-27_166-25delinsAGG (n.166-27_166-25delinsAGG) | |
14 | g.90404430_90404432delinsAGT | CA2579772534 | CALM1 | c.337_339delinsAGT (p.Leu113Ser) c.229_231delinsAGT (p.Leu77Ser) c.340_342delinsAGT (p.Leu114Ser) c.209_211delinsAGT (p.Leu70_Arg71delinsGlnTrp) c.230_232delinsAGT (p.Leu77_Arg78delinsGlnTrp) n.2467_2469delinsAGT n.389_391delinsAGT n.263_265delinsAGT c.166-27_166-25delinsAGT (n.166-27_166-25delinsAGT) | |
14 | g.90404430_90404432delinsATC | CA2579773681 | CALM1 | c.337_339delinsATC (p.Leu113Ile) c.229_231delinsATC (p.Leu77Ile) c.340_342delinsATC (p.Leu114Ile) c.209_211delinsATC (p.Leu70His) c.230_232delinsATC (p.Leu77His) n.2467_2469delinsATC n.389_391delinsATC n.263_265delinsATC c.166-27_166-25delinsATC (n.166-27_166-25delinsATC) | |
14 | g.90404430_90404432delinsATG | CA2579770996 | CALM1 | c.337_339delinsATG (p.Leu113Met) c.229_231delinsATG (p.Leu77Met) c.340_342delinsATG (p.Leu114Met) c.209_211delinsATG (p.Leu70_Arg71delinsHisGly) c.230_232delinsATG (p.Leu77_Arg78delinsHisGly) n.2467_2469delinsATG n.389_391delinsATG n.263_265delinsATG c.166-27_166-25delinsATG (n.166-27_166-25delinsATG) | |
14 | g.90404430_90404432delinsATT | CA2579771531 | CALM1 | c.337_339delinsATT (p.Leu113Ile) c.229_231delinsATT (p.Leu77Ile) c.340_342delinsATT (p.Leu114Ile) c.209_211delinsATT (p.Leu70_Arg71delinsHisTrp) c.230_232delinsATT (p.Leu77_Arg78delinsHisTrp) n.2467_2469delinsATT n.389_391delinsATT n.263_265delinsATT c.166-27_166-25delinsATT (n.166-27_166-25delinsATT) | |
14 | g.90404430_90404432delinsCAC | CA2579773947 | CALM1 | c.337_339delinsCAC (p.Leu113His) c.229_231delinsCAC (p.Leu77His) c.340_342delinsCAC (p.Leu114His) c.209_211delinsCAC (p.Leu70Pro) c.230_232delinsCAC (p.Leu77Pro) n.2467_2469delinsCAC n.389_391delinsCAC n.263_265delinsCAC c.166-27_166-25delinsCAC (n.166-27_166-25delinsCAC) | |
14 | g.90404430_90404432delinsCAG | CA2579773631 | CALM1 | c.337_339delinsCAG (p.Leu113Gln) c.229_231delinsCAG (p.Leu77Gln) c.340_342delinsCAG (p.Leu114Gln) c.209_211delinsCAG (p.Leu70_Arg71delinsProGly) c.230_232delinsCAG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCAG n.389_391delinsCAG n.263_265delinsCAG c.166-27_166-25delinsCAG (n.166-27_166-25delinsCAG) | |
14 | g.90404430_90404432delinsCAT | CA2579770604 | CALM1 | c.337_339delinsCAT (p.Leu113His) c.229_231delinsCAT (p.Leu77His) c.340_342delinsCAT (p.Leu114His) c.209_211delinsCAT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCAT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCAT n.389_391delinsCAT n.263_265delinsCAT c.166-27_166-25delinsCAT (n.166-27_166-25delinsCAT) | |
14 | g.90404430_90404432delinsCCC | CA2579770772 | CALM1 | c.337_339delinsCCC (p.Leu113Pro) c.229_231delinsCCC (p.Leu77Pro) c.340_342delinsCCC (p.Leu114Pro) c.209_211delinsCCC (p.Leu70Pro) c.230_232delinsCCC (p.Leu77Pro) n.2467_2469delinsCCC n.389_391delinsCCC n.263_265delinsCCC c.166-27_166-25delinsCCC (n.166-27_166-25delinsCCC) | |
14 | g.90404430_90404432delinsCCG | CA2579770355 | CALM1 | c.337_339delinsCCG (p.Leu113Pro) c.229_231delinsCCG (p.Leu77Pro) c.340_342delinsCCG (p.Leu114Pro) c.209_211delinsCCG (p.Leu70_Arg71delinsProGly) c.230_232delinsCCG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCCG n.389_391delinsCCG n.263_265delinsCCG c.166-27_166-25delinsCCG (n.166-27_166-25delinsCCG) | |
14 | g.90404430_90404432delinsCCT | CA2579773156 | CALM1 | c.337_339delinsCCT (p.Leu113Pro) c.229_231delinsCCT (p.Leu77Pro) c.340_342delinsCCT (p.Leu114Pro) c.209_211delinsCCT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCCT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCCT n.389_391delinsCCT n.263_265delinsCCT c.166-27_166-25delinsCCT (n.166-27_166-25delinsCCT) | |
14 | g.90404430_90404432delinsCGG | CA2579769860 | CALM1 | c.337_339delinsCGG (p.Leu113Arg) c.229_231delinsCGG (p.Leu77Arg) c.340_342delinsCGG (p.Leu114Arg) c.209_211delinsCGG (p.Leu70_Arg71delinsProGly) c.230_232delinsCGG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCGG n.389_391delinsCGG n.263_265delinsCGG c.166-27_166-25delinsCGG (n.166-27_166-25delinsCGG) | |
14 | g.90404430_90404432delinsCGT | CA2579770234 | CALM1 | c.337_339delinsCGT (p.Leu113Arg) c.229_231delinsCGT (p.Leu77Arg) c.340_342delinsCGT (p.Leu114Arg) c.209_211delinsCGT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCGT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCGT n.389_391delinsCGT n.263_265delinsCGT c.166-27_166-25delinsCGT (n.166-27_166-25delinsCGT) | |
14 | g.90404430_90404432delinsCTC | CA2579772084 | CALM1 | c.337_339delinsCTC (p.Leu113=) c.229_231delinsCTC (p.Leu77=) c.340_342delinsCTC (p.Leu114=) c.209_211delinsCTC (p.Leu70Pro) c.230_232delinsCTC (p.Leu77Pro) n.2467_2469delinsCTC n.389_391delinsCTC n.263_265delinsCTC c.166-27_166-25delinsCTC (n.166-27_166-25delinsCTC) | |
14 | g.90404430_90404432delinsCTG | CA2579772726 | CALM1 | c.337_339delinsCTG (p.Leu113=) c.229_231delinsCTG (p.Leu77=) c.340_342delinsCTG (p.Leu114=) c.209_211delinsCTG (p.Leu70_Arg71delinsProGly) c.230_232delinsCTG (p.Leu77_Arg78delinsProGly) n.2467_2469delinsCTG n.389_391delinsCTG n.263_265delinsCTG c.166-27_166-25delinsCTG (n.166-27_166-25delinsCTG) | |
14 | g.90404430_90404432delinsCTT | CA2579773071 | CALM1 | c.337_339delinsCTT (p.Leu113=) c.229_231delinsCTT (p.Leu77=) c.340_342delinsCTT (p.Leu114=) c.209_211delinsCTT (p.Leu70_Arg71delinsProTrp) c.230_232delinsCTT (p.Leu77_Arg78delinsProTrp) n.2467_2469delinsCTT n.389_391delinsCTT n.263_265delinsCTT c.166-27_166-25delinsCTT (n.166-27_166-25delinsCTT) | |
14 | g.90404430_90404432delinsGAC | CA2579774270 | CALM1 | c.337_339delinsGAC (p.Leu113Asp) c.229_231delinsGAC (p.Leu77Asp) c.340_342delinsGAC (p.Leu114Asp) c.209_211delinsGAC (p.Leu70Arg) c.230_232delinsGAC (p.Leu77Arg) n.2467_2469delinsGAC n.389_391delinsGAC n.263_265delinsGAC c.166-27_166-25delinsGAC (n.166-27_166-25delinsGAC) | |
14 | g.90404430_90404432delinsGAG | CA2579772662 | CALM1 | c.337_339delinsGAG (p.Leu113Glu) c.229_231delinsGAG (p.Leu77Glu) c.340_342delinsGAG (p.Leu114Glu) c.209_211delinsGAG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGAG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGAG n.389_391delinsGAG n.263_265delinsGAG c.166-27_166-25delinsGAG (n.166-27_166-25delinsGAG) | |
14 | g.90404430_90404432delinsGAT | CA2579770569 | CALM1 | c.337_339delinsGAT (p.Leu113Asp) c.229_231delinsGAT (p.Leu77Asp) c.340_342delinsGAT (p.Leu114Asp) c.209_211delinsGAT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGAT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGAT n.389_391delinsGAT n.263_265delinsGAT c.166-27_166-25delinsGAT (n.166-27_166-25delinsGAT) | |
14 | g.90404430_90404432delinsGCG | CA2579769861 | CALM1 | c.337_339delinsGCG (p.Leu113Ala) c.229_231delinsGCG (p.Leu77Ala) c.340_342delinsGCG (p.Leu114Ala) c.209_211delinsGCG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGCG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGCG n.389_391delinsGCG n.263_265delinsGCG c.166-27_166-25delinsGCG (n.166-27_166-25delinsGCG) | |
14 | g.90404430_90404432delinsGCT | CA2579770763 | CALM1 | c.337_339delinsGCT (p.Leu113Ala) c.229_231delinsGCT (p.Leu77Ala) c.340_342delinsGCT (p.Leu114Ala) c.209_211delinsGCT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGCT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGCT n.389_391delinsGCT n.263_265delinsGCT c.166-27_166-25delinsGCT (n.166-27_166-25delinsGCT) | |
14 | g.90404430_90404432delinsGGG | CA2579773607 | CALM1 | c.337_339delinsGGG (p.Leu113Gly) c.229_231delinsGGG (p.Leu77Gly) c.340_342delinsGGG (p.Leu114Gly) c.209_211delinsGGG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGGG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGGG n.389_391delinsGGG n.263_265delinsGGG c.166-27_166-25delinsGGG (n.166-27_166-25delinsGGG) | |
14 | g.90404430_90404432delinsGGT | CA2579771958 | CALM1 | c.337_339delinsGGT (p.Leu113Gly) c.229_231delinsGGT (p.Leu77Gly) c.340_342delinsGGT (p.Leu114Gly) c.209_211delinsGGT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGGT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGGT n.389_391delinsGGT n.263_265delinsGGT c.166-27_166-25delinsGGT (n.166-27_166-25delinsGGT) | |
14 | g.90404430_90404432delinsGTG | CA2579769959 | CALM1 | c.337_339delinsGTG (p.Leu113Val) c.229_231delinsGTG (p.Leu77Val) c.340_342delinsGTG (p.Leu114Val) c.209_211delinsGTG (p.Leu70_Arg71delinsArgGly) c.230_232delinsGTG (p.Leu77_Arg78delinsArgGly) n.2467_2469delinsGTG n.389_391delinsGTG n.263_265delinsGTG c.166-27_166-25delinsGTG (n.166-27_166-25delinsGTG) | |
14 | g.90404430_90404432delinsGTT | CA2579771444 | CALM1 | c.337_339delinsGTT (p.Leu113Val) c.229_231delinsGTT (p.Leu77Val) c.340_342delinsGTT (p.Leu114Val) c.209_211delinsGTT (p.Leu70_Arg71delinsArgTrp) c.230_232delinsGTT (p.Leu77_Arg78delinsArgTrp) n.2467_2469delinsGTT n.389_391delinsGTT n.263_265delinsGTT c.166-27_166-25delinsGTT (n.166-27_166-25delinsGTT) | |
14 | g.90404431T>A | CA390690216 | CALM1 | c.338T>A (p.Leu113Ter) c.230T>A (p.Leu77Ter) c.341T>A (p.Leu114Ter) c.210T>A (p.Leu70=) c.231T>A (p.Leu77=) n.2468T>A n.390T>A n.264T>A c.166-26T>A (n.166-26T>A) | |
14 | g.90404431T>C | CA390690217 | CALM1 | c.338T>C (p.Leu113Ser) c.230T>C (p.Leu77Ser) c.341T>C (p.Leu114Ser) c.210T>C (p.Leu70=) c.231T>C (p.Leu77=) n.2468T>C n.390T>C n.264T>C c.166-26T>C (n.166-26T>C) | |
14 | g.90404431T>G | CA390690218 | CALM1 | c.338T>G (p.Leu113Ter) c.230T>G (p.Leu77Ter) c.341T>G (p.Leu114Ter) c.210T>G (p.Leu70=) c.231T>G (p.Leu77=) n.2468T>G n.390T>G n.264T>G c.166-26T>G (n.166-26T>G) | |
14 | g.90404431_90404432delinsAC | CA2579773414 | CALM1 | c.338_339delinsAC (p.Leu113Tyr) c.230_231delinsAC (p.Leu77Tyr) c.341_342delinsAC (p.Leu114Tyr) c.210_211delinsAC (p.Leu70=) c.231_232delinsAC (p.Leu77=) n.2468_2469delinsAC n.390_391delinsAC n.264_265delinsAC c.166-26_166-25delinsAC (n.166-26_166-25delinsAC) | |
14 | g.90404431_90404432delinsAG | CA2579773073 | CALM1 | c.338_339delinsAG (p.Leu113Ter) c.230_231delinsAG (p.Leu77Ter) c.341_342delinsAG (p.Leu114Ter) c.210_211delinsAG (p.Arg71Gly) c.231_232delinsAG (p.Arg78Gly) n.2468_2469delinsAG n.390_391delinsAG n.264_265delinsAG c.166-26_166-25delinsAG (n.166-26_166-25delinsAG) | |
14 | g.90404431_90404432delinsAT | CA2579773783 | CALM1 | c.338_339delinsAT (p.Leu113Tyr) c.230_231delinsAT (p.Leu77Tyr) c.341_342delinsAT (p.Leu114Tyr) c.210_211delinsAT (p.Arg71Trp) c.231_232delinsAT (p.Arg78Trp) n.2468_2469delinsAT n.390_391delinsAT n.264_265delinsAT c.166-26_166-25delinsAT (n.166-26_166-25delinsAT) | |
14 | g.90404431_90404432delinsCC | CA2579773227 | CALM1 | c.338_339delinsCC (p.Leu113Ser) c.230_231delinsCC (p.Leu77Ser) c.341_342delinsCC (p.Leu114Ser) c.210_211delinsCC (p.Leu70=) c.231_232delinsCC (p.Leu77=) n.2468_2469delinsCC n.390_391delinsCC n.264_265delinsCC c.166-26_166-25delinsCC (n.166-26_166-25delinsCC) | |
14 | g.90404431_90404432delinsCG | CA2579771319 | CALM1 | c.338_339delinsCG (p.Leu113Ser) c.230_231delinsCG (p.Leu77Ser) c.341_342delinsCG (p.Leu114Ser) c.210_211delinsCG (p.Arg71Gly) c.231_232delinsCG (p.Arg78Gly) n.2468_2469delinsCG n.390_391delinsCG n.264_265delinsCG c.166-26_166-25delinsCG (n.166-26_166-25delinsCG) | |
14 | g.90404431_90404432delinsCT | CA2579773707 | CALM1 | c.338_339delinsCT (p.Leu113Ser) c.230_231delinsCT (p.Leu77Ser) c.341_342delinsCT (p.Leu114Ser) c.210_211delinsCT (p.Arg71Trp) c.231_232delinsCT (p.Arg78Trp) n.2468_2469delinsCT n.390_391delinsCT n.264_265delinsCT c.166-26_166-25delinsCT (n.166-26_166-25delinsCT) | |
14 | g.90404431_90404432delinsGG | CA2579772235 | CALM1 | c.338_339delinsGG (p.Leu113Trp) c.230_231delinsGG (p.Leu77Trp) c.341_342delinsGG (p.Leu114Trp) c.210_211delinsGG (p.Arg71Gly) c.231_232delinsGG (p.Arg78Gly) n.2468_2469delinsGG n.390_391delinsGG n.264_265delinsGG c.166-26_166-25delinsGG (n.166-26_166-25delinsGG) | |
14 | g.90404431_90404432delinsGT | CA2579770449 | CALM1 | c.338_339delinsGT (p.Leu113Cys) c.230_231delinsGT (p.Leu77Cys) c.341_342delinsGT (p.Leu114Cys) c.210_211delinsGT (p.Arg71Trp) c.231_232delinsGT (p.Arg78Trp) n.2468_2469delinsGT n.390_391delinsGT n.264_265delinsGT c.166-26_166-25delinsGT (n.166-26_166-25delinsGT) | |
14 | g.90404431_90404434delinsTAGG | CA2154484124 | CALM1 | c.338_341delinsTAGG (p.Leu113=) c.230_233delinsTAGG (p.Leu77=) c.341_344delinsTAGG (p.Leu114=) c.210_213delinsTAGG (p.Leu70=) c.231_234delinsTAGG (p.Leu77=) n.2468_2471delinsTAGG n.390_393delinsTAGG n.264_267delinsTAGG c.166-26_166-23delinsTAGG (n.166-26_166-23delinsTAGG) | |
14 | g.90404432A>C | CA390690220 | CALM1 | c.339A>C (p.Leu113Phe) c.231A>C (p.Leu77Phe) c.342A>C (p.Leu114Phe) c.211A>C (p.Arg71=) c.232A>C (p.Arg78=) n.2469A>C n.391A>C n.265A>C c.166-25A>C (n.166-25A>C) | |
14 | g.90404432A>G | CA487760192 | CALM1 | c.339A>G (p.Leu113=) c.231A>G (p.Leu77=) c.342A>G (p.Leu114=) c.211A>G (p.Arg71Gly) c.232A>G (p.Arg78Gly) n.2469A>G n.391A>G n.265A>G c.166-25A>G (n.166-25A>G) | |
14 | g.90404432A>T | CA390690219 | CALM1 | c.339A>T (p.Leu113Phe) c.231A>T (p.Leu77Phe) c.342A>T (p.Leu114Phe) c.211A>T (p.Arg71Trp) c.232A>T (p.Arg78Trp) n.2469A>T n.391A>T n.265A>T c.166-25A>T (n.166-25A>T) | |
14 | g.90404434_90404436del | CA919475899 | CALM1 | c.341_343del (p.Gly114del) c.233_235del (p.Gly78del) c.344_346del (p.Gly115del) c.213_215del (p.Arg72del) c.234_236del (p.Arg79del) n.2471_2473del n.393_395del n.267_269del c.166-23_166-21del (n.166-23_166-21del) | dbSNP |
14 | g.90404433G>A | CA390690221 | CALM1 | c.340G>A (p.Gly114Arg) c.232G>A (p.Gly78Arg) c.343G>A (p.Gly115Arg) c.212G>A (p.Arg71Lys) c.233G>A (p.Arg78Lys) n.2470G>A n.392G>A n.266G>A c.166-24G>A (n.166-24G>A) | |
14 | g.90404433G>C | CA390690222 | CALM1 | c.340G>C (p.Gly114Arg) c.232G>C (p.Gly78Arg) c.343G>C (p.Gly115Arg) c.212G>C (p.Arg71Thr) c.233G>C (p.Arg78Thr) n.2470G>C n.392G>C n.266G>C c.166-24G>C (n.166-24G>C) | |
14 | g.90404433G>T | CA390690223 | CALM1 | c.340G>T (p.Gly114Ter) c.232G>T (p.Gly78Ter) c.343G>T (p.Gly115Ter) c.212G>T (p.Arg71Met) c.233G>T (p.Arg78Met) n.2470G>T n.392G>T n.266G>T c.166-24G>T (n.166-24G>T) | |
14 | g.90404433_90404434delinsAA | CA2579772671 | CALM1 | c.340_341delinsAA (p.Gly114Lys) c.232_233delinsAA (p.Gly78Lys) c.343_344delinsAA (p.Gly115Lys) c.212_213delinsAA (p.Arg71Lys) c.233_234delinsAA (p.Arg78Lys) n.2470_2471delinsAA n.392_393delinsAA n.266_267delinsAA c.166-24_166-23delinsAA (n.166-24_166-23delinsAA) | |
14 | g.90404433_90404434delinsAC | CA2579774286 | CALM1 | c.340_341delinsAC (p.Gly114Thr) c.232_233delinsAC (p.Gly78Thr) c.343_344delinsAC (p.Gly115Thr) c.212_213delinsAC (p.Arg71Asn) c.233_234delinsAC (p.Arg78Asn) n.2470_2471delinsAC n.392_393delinsAC n.266_267delinsAC c.166-24_166-23delinsAC (n.166-24_166-23delinsAC) | |
14 | g.90404433_90404434delinsAT | CA2579770394 | CALM1 | c.340_341delinsAT (p.Gly114Ile) c.232_233delinsAT (p.Gly78Ile) c.343_344delinsAT (p.Gly115Ile) c.212_213delinsAT (p.Arg71Asn) c.233_234delinsAT (p.Arg78Asn) n.2470_2471delinsAT n.392_393delinsAT n.266_267delinsAT c.166-24_166-23delinsAT (n.166-24_166-23delinsAT) | |
14 | g.90404433_90404434delinsCA | CA2579774036 | CALM1 | c.340_341delinsCA (p.Gly114Gln) c.232_233delinsCA (p.Gly78Gln) c.343_344delinsCA (p.Gly115Gln) c.212_213delinsCA (p.Arg71Thr) c.233_234delinsCA (p.Arg78Thr) n.2470_2471delinsCA n.392_393delinsCA n.266_267delinsCA c.166-24_166-23delinsCA (n.166-24_166-23delinsCA) | |
14 | g.90404433_90404434delinsCC | CA2579773549 | CALM1 | c.340_341delinsCC (p.Gly114Pro) c.232_233delinsCC (p.Gly78Pro) c.343_344delinsCC (p.Gly115Pro) c.212_213delinsCC (p.Arg71Thr) c.233_234delinsCC (p.Arg78Thr) n.2470_2471delinsCC n.392_393delinsCC n.266_267delinsCC c.166-24_166-23delinsCC (n.166-24_166-23delinsCC) | |
14 | g.90404433_90404434delinsCT | CA2579770466 | CALM1 | c.340_341delinsCT (p.Gly114Leu) c.232_233delinsCT (p.Gly78Leu) c.343_344delinsCT (p.Gly115Leu) c.212_213delinsCT (p.Arg71Thr) c.233_234delinsCT (p.Arg78Thr) n.2470_2471delinsCT n.392_393delinsCT n.266_267delinsCT c.166-24_166-23delinsCT (n.166-24_166-23delinsCT) | |
14 | g.90404433_90404434delinsTA | CA2579773062 | CALM1 | c.340_341delinsTA (p.Gly114Ter) c.232_233delinsTA (p.Gly78Ter) c.343_344delinsTA (p.Gly115Ter) c.212_213delinsTA (p.Arg71Ile) c.233_234delinsTA (p.Arg78Ile) n.2470_2471delinsTA n.392_393delinsTA n.266_267delinsTA c.166-24_166-23delinsTA (n.166-24_166-23delinsTA) | |
14 | g.90404433_90404434delinsTC | CA2579772712 | CALM1 | c.340_341delinsTC (p.Gly114Ser) c.232_233delinsTC (p.Gly78Ser) c.343_344delinsTC (p.Gly115Ser) c.212_213delinsTC (p.Arg71Ile) c.233_234delinsTC (p.Arg78Ile) n.2470_2471delinsTC n.392_393delinsTC n.266_267delinsTC c.166-24_166-23delinsTC (n.166-24_166-23delinsTC) | |
14 | g.90404433_90404434delinsTT | CA2579773609 | CALM1 | c.340_341delinsTT (p.Gly114Leu) c.232_233delinsTT (p.Gly78Leu) c.343_344delinsTT (p.Gly115Leu) c.212_213delinsTT (p.Arg71Ile) c.233_234delinsTT (p.Arg78Ile) n.2470_2471delinsTT n.392_393delinsTT n.266_267delinsTT c.166-24_166-23delinsTT (n.166-24_166-23delinsTT) | |
14 | g.90404433_90404435delinsAAG | CA2579774040 | CALM1 | c.340_342delinsAAG (p.Gly114Lys) c.232_234delinsAAG (p.Gly78Lys) c.343_345delinsAAG (p.Gly115Lys) c.212_214delinsAAG (p.Arg71_Arg72delinsLysGly) c.233_235delinsAAG (p.Arg78_Arg79delinsLysGly) n.2470_2472delinsAAG n.392_394delinsAAG n.266_268delinsAAG c.166-24_166-22delinsAAG (n.166-24_166-22delinsAAG) | |
14 | g.90404433_90404435delinsAAT | CA2579771288 | CALM1 | c.340_342delinsAAT (p.Gly114Asn) c.232_234delinsAAT (p.Gly78Asn) c.343_345delinsAAT (p.Gly115Asn) c.212_214delinsAAT (p.Arg71LysfsTer2) c.233_235delinsAAT (p.Arg78LysfsTer2) n.2470_2472delinsAAT n.392_394delinsAAT n.266_268delinsAAT c.166-24_166-22delinsAAT (n.166-24_166-22delinsAAT) | |
14 | g.90404433_90404435delinsACG | CA2579769923 | CALM1 | c.340_342delinsACG (p.Gly114Thr) c.232_234delinsACG (p.Gly78Thr) c.343_345delinsACG (p.Gly115Thr) c.212_214delinsACG (p.Arg71_Arg72delinsAsnGly) c.233_235delinsACG (p.Arg78_Arg79delinsAsnGly) n.2470_2472delinsACG n.392_394delinsACG n.266_268delinsACG c.166-24_166-22delinsACG (n.166-24_166-22delinsACG) | |
14 | g.90404433_90404435delinsAGG | CA2579773296 | CALM1 | c.340_342delinsAGG (p.Gly114Arg) c.232_234delinsAGG (p.Gly78Arg) c.343_345delinsAGG (p.Gly115Arg) c.212_214delinsAGG (p.Arg71_Arg72delinsLysGly) c.233_235delinsAGG (p.Arg78_Arg79delinsLysGly) n.2470_2472delinsAGG n.392_394delinsAGG n.266_268delinsAGG c.166-24_166-22delinsAGG (n.166-24_166-22delinsAGG) | |
14 | g.90404433_90404435delinsAGT | CA2579772818 | CALM1 | c.340_342delinsAGT (p.Gly114Ser) c.232_234delinsAGT (p.Gly78Ser) c.343_345delinsAGT (p.Gly115Ser) c.212_214delinsAGT (p.Arg71LysfsTer2) c.233_235delinsAGT (p.Arg78LysfsTer2) n.2470_2472delinsAGT n.392_394delinsAGT n.266_268delinsAGT c.166-24_166-22delinsAGT (n.166-24_166-22delinsAGT) | |
14 | g.90404433_90404435delinsATG | CA2579770592 | CALM1 | c.340_342delinsATG (p.Gly114Met) c.232_234delinsATG (p.Gly78Met) c.343_345delinsATG (p.Gly115Met) c.212_214delinsATG (p.Arg71_Arg72delinsAsnGly) c.233_235delinsATG (p.Arg78_Arg79delinsAsnGly) n.2470_2472delinsATG n.392_394delinsATG n.266_268delinsATG c.166-24_166-22delinsATG (n.166-24_166-22delinsATG) | |
14 | g.90404433_90404435delinsATT | CA2579773312 | CALM1 | c.340_342delinsATT (p.Gly114Ile) c.232_234delinsATT (p.Gly78Ile) c.343_345delinsATT (p.Gly115Ile) c.212_214delinsATT (p.Arg71AsnfsTer2) c.233_235delinsATT (p.Arg78AsnfsTer2) n.2470_2472delinsATT n.392_394delinsATT n.266_268delinsATT c.166-24_166-22delinsATT (n.166-24_166-22delinsATT) | |
14 | g.90404433_90404435delinsCAC | CA2579771161 | CALM1 | c.340_342delinsCAC (p.Gly114His) c.232_234delinsCAC (p.Gly78His) c.343_345delinsCAC (p.Gly115His) c.212_214delinsCAC (p.Arg71Thr) c.233_235delinsCAC (p.Arg78Thr) n.2470_2472delinsCAC n.392_394delinsCAC n.266_268delinsCAC c.166-24_166-22delinsCAC (n.166-24_166-22delinsCAC) | |
14 | g.90404433_90404435delinsCCG | CA2579771662 | CALM1 | c.340_342delinsCCG (p.Gly114Pro) c.232_234delinsCCG (p.Gly78Pro) c.343_345delinsCCG (p.Gly115Pro) c.212_214delinsCCG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCCG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCCG n.392_394delinsCCG n.266_268delinsCCG c.166-24_166-22delinsCCG (n.166-24_166-22delinsCCG) | |
14 | g.90404433_90404435delinsCCT | CA2579771121 | CALM1 | c.340_342delinsCCT (p.Gly114Pro) c.232_234delinsCCT (p.Gly78Pro) c.343_345delinsCCT (p.Gly115Pro) c.212_214delinsCCT (p.Arg71ThrfsTer2) c.233_235delinsCCT (p.Arg78ThrfsTer2) n.2470_2472delinsCCT n.392_394delinsCCT n.266_268delinsCCT c.166-24_166-22delinsCCT (n.166-24_166-22delinsCCT) | |
14 | g.90404433_90404435delinsCGG | CA2579769822 | CALM1 | c.340_342delinsCGG (p.Gly114Arg) c.232_234delinsCGG (p.Gly78Arg) c.343_345delinsCGG (p.Gly115Arg) c.212_214delinsCGG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCGG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCGG n.392_394delinsCGG n.266_268delinsCGG c.166-24_166-22delinsCGG (n.166-24_166-22delinsCGG) | |
14 | g.90404433_90404435delinsCGT | CA2579772039 | CALM1 | c.340_342delinsCGT (p.Gly114Arg) c.232_234delinsCGT (p.Gly78Arg) c.343_345delinsCGT (p.Gly115Arg) c.212_214delinsCGT (p.Arg71ThrfsTer2) c.233_235delinsCGT (p.Arg78ThrfsTer2) n.2470_2472delinsCGT n.392_394delinsCGT n.266_268delinsCGT c.166-24_166-22delinsCGT (n.166-24_166-22delinsCGT) | |
14 | g.90404433_90404435delinsCTG | CA2579769910 | CALM1 | c.340_342delinsCTG (p.Gly114Leu) c.232_234delinsCTG (p.Gly78Leu) c.343_345delinsCTG (p.Gly115Leu) c.212_214delinsCTG (p.Arg71_Arg72delinsThrGly) c.233_235delinsCTG (p.Arg78_Arg79delinsThrGly) n.2470_2472delinsCTG n.392_394delinsCTG n.266_268delinsCTG c.166-24_166-22delinsCTG (n.166-24_166-22delinsCTG) | |
14 | g.90404433_90404435delinsCTT | CA2579772700 | CALM1 | c.340_342delinsCTT (p.Gly114Leu) c.232_234delinsCTT (p.Gly78Leu) c.343_345delinsCTT (p.Gly115Leu) c.212_214delinsCTT (p.Arg71ThrfsTer2) c.233_235delinsCTT (p.Arg78ThrfsTer2) n.2470_2472delinsCTT n.392_394delinsCTT n.266_268delinsCTT c.166-24_166-22delinsCTT (n.166-24_166-22delinsCTT) | |
14 | g.90404433_90404435delinsTAG | CA2579770290 | CALM1 | c.340_342delinsTAG (p.Gly114Ter) c.232_234delinsTAG (p.Gly78Ter) c.343_345delinsTAG (p.Gly115Ter) c.212_214delinsTAG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTAG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTAG n.392_394delinsTAG n.266_268delinsTAG c.166-24_166-22delinsTAG (n.166-24_166-22delinsTAG) | |
14 | g.90404433_90404435delinsTAT | CA2579772544 | CALM1 | c.340_342delinsTAT (p.Gly114Tyr) c.232_234delinsTAT (p.Gly78Tyr) c.343_345delinsTAT (p.Gly115Tyr) c.212_214delinsTAT (p.Arg71IlefsTer2) c.233_235delinsTAT (p.Arg78IlefsTer2) n.2470_2472delinsTAT n.392_394delinsTAT n.266_268delinsTAT c.166-24_166-22delinsTAT (n.166-24_166-22delinsTAT) | |
14 | g.90404433_90404435delinsTCG | CA2579773197 | CALM1 | c.340_342delinsTCG (p.Gly114Ser) c.232_234delinsTCG (p.Gly78Ser) c.343_345delinsTCG (p.Gly115Ser) c.212_214delinsTCG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTCG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTCG n.392_394delinsTCG n.266_268delinsTCG c.166-24_166-22delinsTCG (n.166-24_166-22delinsTCG) | |
14 | g.90404433_90404435delinsTCT | CA2579773154 | CALM1 | c.340_342delinsTCT (p.Gly114Ser) c.232_234delinsTCT (p.Gly78Ser) c.343_345delinsTCT (p.Gly115Ser) c.212_214delinsTCT (p.Arg71IlefsTer2) c.233_235delinsTCT (p.Arg78IlefsTer2) n.2470_2472delinsTCT n.392_394delinsTCT n.266_268delinsTCT c.166-24_166-22delinsTCT (n.166-24_166-22delinsTCT) | |
14 | g.90404433_90404435delinsTGG | CA2579774135 | CALM1 | c.340_342delinsTGG (p.Gly114Trp) c.232_234delinsTGG (p.Gly78Trp) c.343_345delinsTGG (p.Gly115Trp) c.212_214delinsTGG (p.Arg71_Arg72delinsMetGly) c.233_235delinsTGG (p.Arg78_Arg79delinsMetGly) n.2470_2472delinsTGG n.392_394delinsTGG n.266_268delinsTGG c.166-24_166-22delinsTGG (n.166-24_166-22delinsTGG) | |
14 | g.90404433_90404435delinsTGT | CA2579772043 | CALM1 | c.340_342delinsTGT (p.Gly114Cys) c.232_234delinsTGT (p.Gly78Cys) c.343_345delinsTGT (p.Gly115Cys) c.212_214delinsTGT (p.Arg71MetfsTer2) c.233_235delinsTGT (p.Arg78MetfsTer2) n.2470_2472delinsTGT n.392_394delinsTGT n.266_268delinsTGT c.166-24_166-22delinsTGT (n.166-24_166-22delinsTGT) | |
14 | g.90404433_90404435delinsTTG | CA2579770928 | CALM1 | c.340_342delinsTTG (p.Gly114Leu) c.232_234delinsTTG (p.Gly78Leu) c.343_345delinsTTG (p.Gly115Leu) c.212_214delinsTTG (p.Arg71_Arg72delinsIleGly) c.233_235delinsTTG (p.Arg78_Arg79delinsIleGly) n.2470_2472delinsTTG n.392_394delinsTTG n.266_268delinsTTG c.166-24_166-22delinsTTG (n.166-24_166-22delinsTTG) | |
14 | g.90404433_90404435delinsTTT | CA2579772746 | CALM1 | c.340_342delinsTTT (p.Gly114Phe) c.232_234delinsTTT (p.Gly78Phe) c.343_345delinsTTT (p.Gly115Phe) c.212_214delinsTTT (p.Arg71IlefsTer2) c.233_235delinsTTT (p.Arg78IlefsTer2) n.2470_2472delinsTTT n.392_394delinsTTT n.266_268delinsTTT c.166-24_166-22delinsTTT (n.166-24_166-22delinsTTT) | |
14 | g.90404433_90404434insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT | CA7305799 | CALM1 | c.340_341insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly114ValfsTer7) c.232_233insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly78ValfsTer7) c.343_344insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Gly115ValfsTer7) c.212_213insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Arg71SerfsTer24) c.233_234insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (p.Arg78SerfsTer24) n.2470_2471insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT n.392_393insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT n.266_267insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT c.166-24_166-23insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT (n.166-24_166-23insTACCCAGGAACGTGGAGTAACTTCCTCTTATTTGTGGGAGCCCCGGGAATCTGTGCCT) | ExAC |
14 | g.90404434G>A | CA390690224 | CALM1 | c.341G>A (p.Gly114Glu) c.233G>A (p.Gly78Glu) c.344G>A (p.Gly115Glu) c.213G>A (p.Arg71=) c.234G>A (p.Arg78=) n.2471G>A n.393G>A n.267G>A c.166-23G>A (n.166-23G>A) | |
14 | g.90404434G>C | CA390690225 | CALM1 | c.341G>C (p.Gly114Ala) c.233G>C (p.Gly78Ala) c.344G>C (p.Gly115Ala) c.213G>C (p.Arg71Ser) c.234G>C (p.Arg78Ser) n.2471G>C n.393G>C n.267G>C c.166-23G>C (n.166-23G>C) | |
14 | g.90404434G>T | CA390690226 | CALM1 | c.341G>T (p.Gly114Val) c.233G>T (p.Gly78Val) c.344G>T (p.Gly115Val) c.213G>T (p.Arg71Ser) c.234G>T (p.Arg78Ser) n.2471G>T n.393G>T n.267G>T c.166-23G>T (n.166-23G>T) | |
14 | g.90404434_90404435delinsAG | CA2579771455 | CALM1 | c.341_342delinsAG (p.Gly114Glu) c.233_234delinsAG (p.Gly78Glu) c.344_345delinsAG (p.Gly115Glu) c.213_214delinsAG (p.Arg72Gly) c.234_235delinsAG (p.Arg79Gly) n.2471_2472delinsAG n.393_394delinsAG n.267_268delinsAG c.166-23_166-22delinsAG (n.166-23_166-22delinsAG) | |
14 | g.90404434_90404435delinsAT | CA2579771280 | CALM1 | c.341_342delinsAT (p.Gly114Asp) c.233_234delinsAT (p.Gly78Asp) c.344_345delinsAT (p.Gly115Asp) c.213_214delinsAT (p.Arg72Ter) c.234_235delinsAT (p.Arg79Ter) n.2471_2472delinsAT n.393_394delinsAT n.267_268delinsAT c.166-23_166-22delinsAT (n.166-23_166-22delinsAT) | |
14 | g.90404434_90404435delinsCG | CA2579770689 | CALM1 | c.341_342delinsCG (p.Gly114Ala) c.233_234delinsCG (p.Gly78Ala) c.344_345delinsCG (p.Gly115Ala) c.213_214delinsCG (p.Arg71_Arg72delinsSerGly) c.234_235delinsCG (p.Arg78_Arg79delinsSerGly) n.2471_2472delinsCG n.393_394delinsCG n.267_268delinsCG c.166-23_166-22delinsCG (n.166-23_166-22delinsCG) | |
14 | g.90404434_90404435delinsCT | CA2579770921 | CALM1 | c.341_342delinsCT (p.Gly114Ala) c.233_234delinsCT (p.Gly78Ala) c.344_345delinsCT (p.Gly115Ala) c.213_214delinsCT (p.Arg71SerfsTer2) c.234_235delinsCT (p.Arg78SerfsTer2) n.2471_2472delinsCT n.393_394delinsCT n.267_268delinsCT c.166-23_166-22delinsCT (n.166-23_166-22delinsCT) | |
14 | g.90404434_90404435delinsTC | CA2579773105 | CALM1 | c.341_342delinsTC (p.Gly114Val) c.233_234delinsTC (p.Gly78Val) c.344_345delinsTC (p.Gly115Val) c.213_214delinsTC (p.Arg71Ser) c.234_235delinsTC (p.Arg78Ser) n.2471_2472delinsTC n.393_394delinsTC n.267_268delinsTC c.166-23_166-22delinsTC (n.166-23_166-22delinsTC) | |
14 | g.90404434_90404435delinsTG | CA2579770320 | CALM1 | c.341_342delinsTG (p.Gly114Val) c.233_234delinsTG (p.Gly78Val) c.344_345delinsTG (p.Gly115Val) c.213_214delinsTG (p.Arg71_Arg72delinsSerGly) c.234_235delinsTG (p.Arg78_Arg79delinsSerGly) n.2471_2472delinsTG n.393_394delinsTG n.267_268delinsTG c.166-23_166-22delinsTG (n.166-23_166-22delinsTG) | |
14 | g.90404434_90404435delinsTT | CA2579773391 | CALM1 | c.341_342delinsTT (p.Gly114Val) c.233_234delinsTT (p.Gly78Val) c.344_345delinsTT (p.Gly115Val) c.213_214delinsTT (p.Arg71SerfsTer2) c.234_235delinsTT (p.Arg78SerfsTer2) n.2471_2472delinsTT n.393_394delinsTT n.267_268delinsTT c.166-23_166-22delinsTT (n.166-23_166-22delinsTT) | |
14 | g.90404435A>C | CA487760201 | CALM1 | c.342A>C (p.Gly114=) c.234A>C (p.Gly78=) c.345A>C (p.Gly115=) c.214A>C (p.Arg72=) c.235A>C (p.Arg79=) n.2472A>C n.394A>C n.268A>C c.166-22A>C (n.166-22A>C) | |
14 | g.90404435A>G | CA487760202 | CALM1 | c.342A>G (p.Gly114=) c.234A>G (p.Gly78=) c.345A>G (p.Gly115=) c.214A>G (p.Arg72Gly) c.235A>G (p.Arg79Gly) n.2472A>G n.394A>G n.268A>G c.166-22A>G (n.166-22A>G) | |
14 | g.90404435A>T | CA487760203 | CALM1 | c.342A>T (p.Gly114=) c.234A>T (p.Gly78=) c.345A>T (p.Gly115=) c.214A>T (p.Arg72Ter) c.235A>T (p.Arg79Ter) n.2472A>T n.394A>T n.268A>T c.166-22A>T (n.166-22A>T) | |
14 | g.90404436G>A | CA390690229 | CALM1 | c.343G>A (p.Glu115Lys) c.235G>A (p.Glu79Lys) c.346G>A (p.Glu116Lys) c.215G>A (p.Arg72Lys) c.236G>A (p.Arg79Lys) n.2473G>A n.395G>A n.269G>A c.166-21G>A (n.166-21G>A) | |
14 | g.90404436G>C | CA390690227 | CALM1 | c.343G>C (p.Glu115Gln) c.235G>C (p.Glu79Gln) c.346G>C (p.Glu116Gln) c.215G>C (p.Arg72Thr) c.236G>C (p.Arg79Thr) n.2473G>C n.395G>C n.269G>C c.166-21G>C (n.166-21G>C) | |
14 | g.90404436G>T | CA390690228 | CALM1 | c.343G>T (p.Glu115Ter) c.235G>T (p.Glu79Ter) c.346G>T (p.Glu116Ter) c.215G>T (p.Arg72Ile) c.236G>T (p.Arg79Ile) n.2473G>T n.395G>T n.269G>T c.166-21G>T (n.166-21G>T) | |
14 | g.90404436_90404437delinsAC | CA2579773578 | CALM1 | c.343_344delinsAC (p.Glu115Thr) c.235_236delinsAC (p.Glu79Thr) c.346_347delinsAC (p.Glu116Thr) c.215_216delinsAC (p.Arg72Asn) c.236_237delinsAC (p.Arg79Asn) n.2473_2474delinsAC n.395_396delinsAC n.269_270delinsAC c.166-21_166-20delinsAC (n.166-21_166-20delinsAC) | |
14 | g.90404436_90404437delinsAG | CA2579769899 | CALM1 | c.343_344delinsAG (p.Glu115Arg) c.235_236delinsAG (p.Glu79Arg) c.346_347delinsAG (p.Glu116Arg) c.215_216delinsAG (p.Arg72Lys) c.236_237delinsAG (p.Arg79Lys) n.2473_2474delinsAG n.395_396delinsAG n.269_270delinsAG c.166-21_166-20delinsAG (n.166-21_166-20delinsAG) | |
14 | g.90404436_90404437delinsAT | CA2579773533 | CALM1 | c.343_344delinsAT (p.Glu115Ile) c.235_236delinsAT (p.Glu79Ile) c.346_347delinsAT (p.Glu116Ile) c.215_216delinsAT (p.Arg72Asn) c.236_237delinsAT (p.Arg79Asn) n.2473_2474delinsAT n.395_396delinsAT n.269_270delinsAT c.166-21_166-20delinsAT (n.166-21_166-20delinsAT) | |
14 | g.90404436_90404437delinsCC | CA2579770480 | CALM1 | c.343_344delinsCC (p.Glu115Pro) c.235_236delinsCC (p.Glu79Pro) c.346_347delinsCC (p.Glu116Pro) c.215_216delinsCC (p.Arg72Thr) c.236_237delinsCC (p.Arg79Thr) n.2473_2474delinsCC n.395_396delinsCC n.269_270delinsCC c.166-21_166-20delinsCC (n.166-21_166-20delinsCC) | |
14 | g.90404436_90404437delinsCG | CA2579770537 | CALM1 | c.343_344delinsCG (p.Glu115Arg) c.235_236delinsCG (p.Glu79Arg) c.346_347delinsCG (p.Glu116Arg) c.215_216delinsCG (p.Arg72Thr) c.236_237delinsCG (p.Arg79Thr) n.2473_2474delinsCG n.395_396delinsCG n.269_270delinsCG c.166-21_166-20delinsCG (n.166-21_166-20delinsCG) | |
14 | g.90404436_90404437delinsCT | CA2579771350 | CALM1 | c.343_344delinsCT (p.Glu115Leu) c.235_236delinsCT (p.Glu79Leu) c.346_347delinsCT (p.Glu116Leu) c.215_216delinsCT (p.Arg72Thr) c.236_237delinsCT (p.Arg79Thr) n.2473_2474delinsCT n.395_396delinsCT n.269_270delinsCT c.166-21_166-20delinsCT (n.166-21_166-20delinsCT) | |
14 | g.90404436_90404437delinsTC | CA2579772542 | CALM1 | c.343_344delinsTC (p.Glu115Ser) c.235_236delinsTC (p.Glu79Ser) c.346_347delinsTC (p.Glu116Ser) c.215_216delinsTC (p.Arg72Ile) c.236_237delinsTC (p.Arg79Ile) n.2473_2474delinsTC n.395_396delinsTC n.269_270delinsTC c.166-21_166-20delinsTC (n.166-21_166-20delinsTC) | |
14 | g.90404436_90404437delinsTG | CA2579772281 | CALM1 | c.343_344delinsTG (p.Glu115Ter) c.235_236delinsTG (p.Glu79Ter) c.346_347delinsTG (p.Glu116Ter) c.215_216delinsTG (p.Arg72Met) c.236_237delinsTG (p.Arg79Met) n.2473_2474delinsTG n.395_396delinsTG n.269_270delinsTG c.166-21_166-20delinsTG (n.166-21_166-20delinsTG) | |
14 | g.90404436_90404437delinsTT | CA2579769781 | CALM1 | c.343_344delinsTT (p.Glu115Leu) c.235_236delinsTT (p.Glu79Leu) c.346_347delinsTT (p.Glu116Leu) c.215_216delinsTT (p.Arg72Ile) c.236_237delinsTT (p.Arg79Ile) n.2473_2474delinsTT n.395_396delinsTT n.269_270delinsTT c.166-21_166-20delinsTT (n.166-21_166-20delinsTT) | |
14 | g.90404436_90404438delinsAAG | CA2579772916 | CALM1 | c.343_345delinsAAG (p.Glu115Lys) c.235_237delinsAAG (p.Glu79Lys) c.346_348delinsAAG (p.Glu116Lys) c.215_217delinsAAG (p.Arg72_Lys73delinsLysGlu) c.236_238delinsAAG (p.Arg79_Lys80delinsLysGlu) n.2473_2475delinsAAG n.395_397delinsAAG n.269_271delinsAAG c.166-21_166-19delinsAAG (n.166-21_166-19delinsAAG) | |
14 | g.90404436_90404438delinsAAT | CA2579772635 | CALM1 | c.343_345delinsAAT (p.Glu115Asn) c.235_237delinsAAT (p.Glu79Asn) c.346_348delinsAAT (p.Glu116Asn) c.215_217delinsAAT (p.Arg72LysfsTer2) c.236_238delinsAAT (p.Arg79LysfsTer2) n.2473_2475delinsAAT n.395_397delinsAAT n.269_271delinsAAT c.166-21_166-19delinsAAT (n.166-21_166-19delinsAAT) | |
14 | g.90404436_90404438delinsACG | CA2579774261 | CALM1 | c.343_345delinsACG (p.Glu115Thr) c.235_237delinsACG (p.Glu79Thr) c.346_348delinsACG (p.Glu116Thr) c.215_217delinsACG (p.Arg72_Lys73delinsAsnGlu) c.236_238delinsACG (p.Arg79_Lys80delinsAsnGlu) n.2473_2475delinsACG n.395_397delinsACG n.269_271delinsACG c.166-21_166-19delinsACG (n.166-21_166-19delinsACG) | |
14 | g.90404436_90404438delinsACT | CA2579772466 | CALM1 | c.343_345delinsACT (p.Glu115Thr) c.235_237delinsACT (p.Glu79Thr) c.346_348delinsACT (p.Glu116Thr) c.215_217delinsACT (p.Arg72AsnfsTer2) c.236_238delinsACT (p.Arg79AsnfsTer2) n.2473_2475delinsACT n.395_397delinsACT n.269_271delinsACT c.166-21_166-19delinsACT (n.166-21_166-19delinsACT) | |
14 | g.90404436_90404438delinsAGG | CA2579771811 | CALM1 | c.343_345delinsAGG (p.Glu115Arg) c.235_237delinsAGG (p.Glu79Arg) c.346_348delinsAGG (p.Glu116Arg) c.215_217delinsAGG (p.Arg72_Lys73delinsLysGlu) c.236_238delinsAGG (p.Arg79_Lys80delinsLysGlu) n.2473_2475delinsAGG n.395_397delinsAGG n.269_271delinsAGG c.166-21_166-19delinsAGG (n.166-21_166-19delinsAGG) | |
14 | g.90404436_90404438delinsAGT | CA2579770099 | CALM1 | c.343_345delinsAGT (p.Glu115Ser) c.235_237delinsAGT (p.Glu79Ser) c.346_348delinsAGT (p.Glu116Ser) c.215_217delinsAGT (p.Arg72LysfsTer2) c.236_238delinsAGT (p.Arg79LysfsTer2) n.2473_2475delinsAGT n.395_397delinsAGT n.269_271delinsAGT c.166-21_166-19delinsAGT (n.166-21_166-19delinsAGT) | |
14 | g.90404436_90404438delinsATG | CA2579773223 | CALM1 | c.343_345delinsATG (p.Glu115Met) c.235_237delinsATG (p.Glu79Met) c.346_348delinsATG (p.Glu116Met) c.215_217delinsATG (p.Arg72_Lys73delinsAsnGlu) c.236_238delinsATG (p.Arg79_Lys80delinsAsnGlu) n.2473_2475delinsATG n.395_397delinsATG n.269_271delinsATG c.166-21_166-19delinsATG (n.166-21_166-19delinsATG) | |
14 | g.90404436_90404438delinsATT | CA2579773176 | CALM1 | c.343_345delinsATT (p.Glu115Ile) c.235_237delinsATT (p.Glu79Ile) c.346_348delinsATT (p.Glu116Ile) c.215_217delinsATT (p.Arg72AsnfsTer2) c.236_238delinsATT (p.Arg79AsnfsTer2) n.2473_2475delinsATT n.395_397delinsATT n.269_271delinsATT c.166-21_166-19delinsATT (n.166-21_166-19delinsATT) | |
14 | g.90404436_90404438delinsCAG | CA2579771993 | CALM1 | c.343_345delinsCAG (p.Glu115Gln) c.235_237delinsCAG (p.Glu79Gln) c.346_348delinsCAG (p.Glu116Gln) c.215_217delinsCAG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCAG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCAG n.395_397delinsCAG n.269_271delinsCAG c.166-21_166-19delinsCAG (n.166-21_166-19delinsCAG) | |
14 | g.90404436_90404438delinsCAT | CA2579773486 | CALM1 | c.343_345delinsCAT (p.Glu115His) c.235_237delinsCAT (p.Glu79His) c.346_348delinsCAT (p.Glu116His) c.215_217delinsCAT (p.Arg72ThrfsTer2) c.236_238delinsCAT (p.Arg79ThrfsTer2) n.2473_2475delinsCAT n.395_397delinsCAT n.269_271delinsCAT c.166-21_166-19delinsCAT (n.166-21_166-19delinsCAT) | |
14 | g.90404436_90404438delinsCCG | CA2579774191 | CALM1 | c.343_345delinsCCG (p.Glu115Pro) c.235_237delinsCCG (p.Glu79Pro) c.346_348delinsCCG (p.Glu116Pro) c.215_217delinsCCG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCCG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCCG n.395_397delinsCCG n.269_271delinsCCG c.166-21_166-19delinsCCG (n.166-21_166-19delinsCCG) | |
14 | g.90404436_90404438delinsCCT | CA2579770982 | CALM1 | c.343_345delinsCCT (p.Glu115Pro) c.235_237delinsCCT (p.Glu79Pro) c.346_348delinsCCT (p.Glu116Pro) c.215_217delinsCCT (p.Arg72ThrfsTer2) c.236_238delinsCCT (p.Arg79ThrfsTer2) n.2473_2475delinsCCT n.395_397delinsCCT n.269_271delinsCCT c.166-21_166-19delinsCCT (n.166-21_166-19delinsCCT) | |
14 | g.90404436_90404438delinsCGG | CA2579770289 | CALM1 | c.343_345delinsCGG (p.Glu115Arg) c.235_237delinsCGG (p.Glu79Arg) c.346_348delinsCGG (p.Glu116Arg) c.215_217delinsCGG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCGG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCGG n.395_397delinsCGG n.269_271delinsCGG c.166-21_166-19delinsCGG (n.166-21_166-19delinsCGG) | |
14 | g.90404436_90404438delinsCGT | CA2579771119 | CALM1 | c.343_345delinsCGT (p.Glu115Arg) c.235_237delinsCGT (p.Glu79Arg) c.346_348delinsCGT (p.Glu116Arg) c.215_217delinsCGT (p.Arg72ThrfsTer2) c.236_238delinsCGT (p.Arg79ThrfsTer2) n.2473_2475delinsCGT n.395_397delinsCGT n.269_271delinsCGT c.166-21_166-19delinsCGT (n.166-21_166-19delinsCGT) | |
14 | g.90404436_90404438delinsCTG | CA2579770781 | CALM1 | c.343_345delinsCTG (p.Glu115Leu) c.235_237delinsCTG (p.Glu79Leu) c.346_348delinsCTG (p.Glu116Leu) c.215_217delinsCTG (p.Arg72_Lys73delinsThrGlu) c.236_238delinsCTG (p.Arg79_Lys80delinsThrGlu) n.2473_2475delinsCTG n.395_397delinsCTG n.269_271delinsCTG c.166-21_166-19delinsCTG (n.166-21_166-19delinsCTG) | |
14 | g.90404436_90404438delinsCTT | CA2579769795 | CALM1 | c.343_345delinsCTT (p.Glu115Leu) c.235_237delinsCTT (p.Glu79Leu) c.346_348delinsCTT (p.Glu116Leu) c.215_217delinsCTT (p.Arg72ThrfsTer2) c.236_238delinsCTT (p.Arg79ThrfsTer2) n.2473_2475delinsCTT n.395_397delinsCTT n.269_271delinsCTT c.166-21_166-19delinsCTT (n.166-21_166-19delinsCTT) | |
14 | g.90404436_90404438delinsTAC | CA2579772099 | CALM1 | c.343_345delinsTAC (p.Glu115Tyr) c.235_237delinsTAC (p.Glu79Tyr) c.346_348delinsTAC (p.Glu116Tyr) c.215_217delinsTAC (p.Arg72_Lys73delinsIleGln) c.236_238delinsTAC (p.Arg79_Lys80delinsIleGln) n.2473_2475delinsTAC n.395_397delinsTAC n.269_271delinsTAC c.166-21_166-19delinsTAC (n.166-21_166-19delinsTAC) | |
14 | g.90404436_90404438delinsTAG | CA2579773297 | CALM1 | c.343_345delinsTAG (p.Glu115Ter) c.235_237delinsTAG (p.Glu79Ter) c.346_348delinsTAG (p.Glu116Ter) c.215_217delinsTAG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTAG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTAG n.395_397delinsTAG n.269_271delinsTAG c.166-21_166-19delinsTAG (n.166-21_166-19delinsTAG) | |
14 | g.90404436_90404438delinsTAT | CA2579771227 | CALM1 | c.343_345delinsTAT (p.Glu115Tyr) c.235_237delinsTAT (p.Glu79Tyr) c.346_348delinsTAT (p.Glu116Tyr) c.215_217delinsTAT (p.Arg72IlefsTer2) c.236_238delinsTAT (p.Arg79IlefsTer2) n.2473_2475delinsTAT n.395_397delinsTAT n.269_271delinsTAT c.166-21_166-19delinsTAT (n.166-21_166-19delinsTAT) | |
14 | g.90404436_90404438delinsTCG | CA2579773629 | CALM1 | c.343_345delinsTCG (p.Glu115Ser) c.235_237delinsTCG (p.Glu79Ser) c.346_348delinsTCG (p.Glu116Ser) c.215_217delinsTCG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTCG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTCG n.395_397delinsTCG n.269_271delinsTCG c.166-21_166-19delinsTCG (n.166-21_166-19delinsTCG) | |
14 | g.90404436_90404438delinsTCT | CA2579773219 | CALM1 | c.343_345delinsTCT (p.Glu115Ser) c.235_237delinsTCT (p.Glu79Ser) c.346_348delinsTCT (p.Glu116Ser) c.215_217delinsTCT (p.Arg72IlefsTer2) c.236_238delinsTCT (p.Arg79IlefsTer2) n.2473_2475delinsTCT n.395_397delinsTCT n.269_271delinsTCT c.166-21_166-19delinsTCT (n.166-21_166-19delinsTCT) | |
14 | g.90404436_90404438delinsTGG | CA2579771870 | CALM1 | c.343_345delinsTGG (p.Glu115Trp) c.235_237delinsTGG (p.Glu79Trp) c.346_348delinsTGG (p.Glu116Trp) c.215_217delinsTGG (p.Arg72_Lys73delinsMetGlu) c.236_238delinsTGG (p.Arg79_Lys80delinsMetGlu) n.2473_2475delinsTGG n.395_397delinsTGG n.269_271delinsTGG c.166-21_166-19delinsTGG (n.166-21_166-19delinsTGG) | |
14 | g.90404436_90404438delinsTGT | CA2579772483 | CALM1 | c.343_345delinsTGT (p.Glu115Cys) c.235_237delinsTGT (p.Glu79Cys) c.346_348delinsTGT (p.Glu116Cys) c.215_217delinsTGT (p.Arg72MetfsTer2) c.236_238delinsTGT (p.Arg79MetfsTer2) n.2473_2475delinsTGT n.395_397delinsTGT n.269_271delinsTGT c.166-21_166-19delinsTGT (n.166-21_166-19delinsTGT) | |
14 | g.90404436_90404438delinsTTG | CA2579769776 | CALM1 | c.343_345delinsTTG (p.Glu115Leu) c.235_237delinsTTG (p.Glu79Leu) c.346_348delinsTTG (p.Glu116Leu) c.215_217delinsTTG (p.Arg72_Lys73delinsIleGlu) c.236_238delinsTTG (p.Arg79_Lys80delinsIleGlu) n.2473_2475delinsTTG n.395_397delinsTTG n.269_271delinsTTG c.166-21_166-19delinsTTG (n.166-21_166-19delinsTTG) | |
14 | g.90404436_90404438delinsTTT | CA2579770977 | CALM1 | c.343_345delinsTTT (p.Glu115Phe) c.235_237delinsTTT (p.Glu79Phe) c.346_348delinsTTT (p.Glu116Phe) c.215_217delinsTTT (p.Arg72IlefsTer2) c.236_238delinsTTT (p.Arg79IlefsTer2) n.2473_2475delinsTTT n.395_397delinsTTT n.269_271delinsTTT c.166-21_166-19delinsTTT (n.166-21_166-19delinsTTT) | |
14 | g.90404437A>C | CA390690230 | CALM1 | c.344A>C (p.Glu115Ala) c.236A>C (p.Glu79Ala) c.347A>C (p.Glu116Ala) c.216A>C (p.Arg72Ser) c.237A>C (p.Arg79Ser) n.2474A>C n.396A>C n.270A>C c.166-20A>C (n.166-20A>C) | |
14 | g.90404437A>G | CA390690231 | CALM1 | c.344A>G (p.Glu115Gly) c.236A>G (p.Glu79Gly) c.347A>G (p.Glu116Gly) c.216A>G (p.Arg72=) c.237A>G (p.Arg79=) n.2474A>G n.396A>G n.270A>G c.166-20A>G (n.166-20A>G) | |
14 | g.90404437A>T | CA390690232 | CALM1 | c.344A>T (p.Glu115Val) c.236A>T (p.Glu79Val) c.347A>T (p.Glu116Val) c.216A>T (p.Arg72Ser) c.237A>T (p.Arg79Ser) n.2474A>T n.396A>T n.270A>T c.166-20A>T (n.166-20A>T) | |
14 | g.90404437_90404438delinsCC | CA2579772912 | CALM1 | c.344_345delinsCC (p.Glu115Ala) c.236_237delinsCC (p.Glu79Ala) c.347_348delinsCC (p.Glu116Ala) c.216_217delinsCC (p.Arg72_Lys73delinsSerGln) c.237_238delinsCC (p.Arg79_Lys80delinsSerGln) n.2474_2475delinsCC n.396_397delinsCC n.270_271delinsCC c.166-20_166-19delinsCC (n.166-20_166-19delinsCC) | |
14 | g.90404437_90404438delinsCG | CA2579771898 | CALM1 | c.344_345delinsCG (p.Glu115Ala) c.236_237delinsCG (p.Glu79Ala) c.347_348delinsCG (p.Glu116Ala) c.216_217delinsCG (p.Arg72_Lys73delinsSerGlu) c.237_238delinsCG (p.Arg79_Lys80delinsSerGlu) n.2474_2475delinsCG n.396_397delinsCG n.270_271delinsCG c.166-20_166-19delinsCG (n.166-20_166-19delinsCG) | |
14 | g.90404437_90404438delinsCT | CA2579770178 | CALM1 | c.344_345delinsCT (p.Glu115Ala) c.236_237delinsCT (p.Glu79Ala) c.347_348delinsCT (p.Glu116Ala) c.216_217delinsCT (p.Arg72SerfsTer2) c.237_238delinsCT (p.Arg79SerfsTer2) n.2474_2475delinsCT n.396_397delinsCT n.270_271delinsCT c.166-20_166-19delinsCT (n.166-20_166-19delinsCT) | |
14 | g.90404437_90404438delinsGC | CA2579769757 | CALM1 | c.344_345delinsGC (p.Glu115Gly) c.236_237delinsGC (p.Glu79Gly) c.347_348delinsGC (p.Glu116Gly) c.216_217delinsGC (p.Lys73Gln) c.237_238delinsGC (p.Lys80Gln) n.2474_2475delinsGC n.396_397delinsGC n.270_271delinsGC c.166-20_166-19delinsGC (n.166-20_166-19delinsGC) | |
14 | g.90404437_90404438delinsGG | CA2579773084 | CALM1 | c.344_345delinsGG (p.Glu115Gly) c.236_237delinsGG (p.Glu79Gly) c.347_348delinsGG (p.Glu116Gly) c.216_217delinsGG (p.Lys73Glu) c.237_238delinsGG (p.Lys80Glu) n.2474_2475delinsGG n.396_397delinsGG n.270_271delinsGG c.166-20_166-19delinsGG (n.166-20_166-19delinsGG) | |
14 | g.90404437_90404438delinsGT | CA2579770634 | CALM1 | c.344_345delinsGT (p.Glu115Gly) c.236_237delinsGT (p.Glu79Gly) c.347_348delinsGT (p.Glu116Gly) c.216_217delinsGT (p.Arg73Ter) c.237_238delinsGT (p.Arg80Ter) n.2474_2475delinsGT n.396_397delinsGT n.270_271delinsGT c.166-20_166-19delinsGT (n.166-20_166-19delinsGT) | |
14 | g.90404437_90404438delinsTG | CA2579774276 | CALM1 | c.344_345delinsTG (p.Glu115Val) c.236_237delinsTG (p.Glu79Val) c.347_348delinsTG (p.Glu116Val) c.216_217delinsTG (p.Arg72_Lys73delinsSerGlu) c.237_238delinsTG (p.Arg79_Lys80delinsSerGlu) n.2474_2475delinsTG n.396_397delinsTG n.270_271delinsTG c.166-20_166-19delinsTG (n.166-20_166-19delinsTG) | |
14 | g.90404437_90404438delinsTT | CA2579770833 | CALM1 | c.344_345delinsTT (p.Glu115Val) c.236_237delinsTT (p.Glu79Val) c.347_348delinsTT (p.Glu116Val) c.216_217delinsTT (p.Arg72SerfsTer2) c.237_238delinsTT (p.Arg79SerfsTer2) n.2474_2475delinsTT n.396_397delinsTT n.270_271delinsTT c.166-20_166-19delinsTT (n.166-20_166-19delinsTT) | |
14 | g.90404438A>C | CA390690233 | CALM1 | c.345A>C (p.Glu115Asp) c.237A>C (p.Glu79Asp) c.348A>C (p.Glu116Asp) c.217A>C (p.Lys73Gln) c.238A>C (p.Lys80Gln) n.2475A>C n.397A>C n.271A>C c.166-19A>C (n.166-19A>C) | |
14 | g.90404438A>G | CA487760214 | CALM1 | c.345A>G (p.Glu115=) c.237A>G (p.Glu79=) c.348A>G (p.Glu116=) c.217A>G (p.Lys73Glu) c.238A>G (p.Lys80Glu) n.2475A>G n.397A>G n.271A>G c.166-19A>G (n.166-19A>G) | |
14 | g.90404438A>T | CA390690234 | CALM1 | c.345A>T (p.Glu115Asp) c.237A>T (p.Glu79Asp) c.348A>T (p.Glu116Asp) c.217A>T (p.Lys73Ter) c.238A>T (p.Lys80Ter) n.2475A>T n.397A>T n.271A>T c.166-19A>T (n.166-19A>T) | |
14 | g.90404439A>C | CA390690235 | CALM1 | c.346A>C (p.Lys116Gln) c.238A>C (p.Lys80Gln) c.349A>C (p.Lys117Gln) c.218A>C (p.Lys73Thr) c.239A>C (p.Lys80Thr) n.2476A>C n.398A>C n.272A>C c.166-18A>C (n.166-18A>C) | |
14 | g.90404439A>G | CA390690237 | CALM1 | c.346A>G (p.Lys116Glu) c.238A>G (p.Lys80Glu) c.349A>G (p.Lys117Glu) c.218A>G (p.Lys73Arg) c.239A>G (p.Lys80Arg) n.2476A>G n.398A>G n.272A>G c.166-18A>G (n.166-18A>G) | |
14 | g.90404439A>T | CA390690236 | CALM1 | c.346A>T (p.Lys116Ter) c.238A>T (p.Lys80Ter) c.349A>T (p.Lys117Ter) c.218A>T (p.Lys73Ile) c.239A>T (p.Lys80Ile) n.2476A>T n.398A>T n.272A>T c.166-18A>T (n.166-18A>T) | |
14 | g.90404439_90404440delinsCC | CA2579772266 | CALM1 | c.346_347delinsCC (p.Lys116Pro) c.238_239delinsCC (p.Lys80Pro) c.349_350delinsCC (p.Lys117Pro) c.218_219delinsCC (p.Lys73Thr) c.239_240delinsCC (p.Lys80Thr) n.2476_2477delinsCC n.398_399delinsCC n.272_273delinsCC c.166-18_166-17delinsCC (n.166-18_166-17delinsCC) | |
14 | g.90404439_90404440delinsCG | CA2579771038 | CALM1 | c.346_347delinsCG (p.Lys116Arg) c.238_239delinsCG (p.Lys80Arg) c.349_350delinsCG (p.Lys117Arg) c.218_219delinsCG (p.Lys73Thr) c.239_240delinsCG (p.Lys80Thr) n.2476_2477delinsCG n.398_399delinsCG n.272_273delinsCG c.166-18_166-17delinsCG (n.166-18_166-17delinsCG) | |
14 | g.90404439_90404440delinsCT | CA2579772553 | CALM1 | c.346_347delinsCT (p.Lys116Leu) c.238_239delinsCT (p.Lys80Leu) c.349_350delinsCT (p.Lys117Leu) c.218_219delinsCT (p.Lys73Thr) c.239_240delinsCT (p.Lys80Thr) n.2476_2477delinsCT n.398_399delinsCT n.272_273delinsCT c.166-18_166-17delinsCT (n.166-18_166-17delinsCT) | |
14 | g.90404439_90404440delinsGC | CA2579771138 | CALM1 | c.346_347delinsGC (p.Lys116Ala) c.238_239delinsGC (p.Lys80Ala) c.349_350delinsGC (p.Lys117Ala) c.218_219delinsGC (p.Lys73Ser) c.239_240delinsGC (p.Lys80Ser) n.2476_2477delinsGC n.398_399delinsGC n.272_273delinsGC c.166-18_166-17delinsGC (n.166-18_166-17delinsGC) | |
14 | g.90404439_90404440delinsGG | CA2579769760 | CALM1 | c.346_347delinsGG (p.Lys116Gly) c.238_239delinsGG (p.Lys80Gly) c.349_350delinsGG (p.Lys117Gly) c.218_219delinsGG (p.Lys73Arg) c.239_240delinsGG (p.Lys80Arg) n.2476_2477delinsGG n.398_399delinsGG n.272_273delinsGG c.166-18_166-17delinsGG (n.166-18_166-17delinsGG) | |
14 | g.90404439_90404440delinsGT | CA2579771005 | CALM1 | c.346_347delinsGT (p.Lys116Val) c.238_239delinsGT (p.Lys80Val) c.349_350delinsGT (p.Lys117Val) c.218_219delinsGT (p.Lys73Ser) c.239_240delinsGT (p.Lys80Ser) n.2476_2477delinsGT n.398_399delinsGT n.272_273delinsGT c.166-18_166-17delinsGT (n.166-18_166-17delinsGT) | |
14 | g.90404439_90404440delinsTC | CA2579771260 | CALM1 | c.346_347delinsTC (p.Lys116Ser) c.238_239delinsTC (p.Lys80Ser) c.349_350delinsTC (p.Lys117Ser) c.218_219delinsTC (p.Lys73Ile) c.239_240delinsTC (p.Lys80Ile) n.2476_2477delinsTC n.398_399delinsTC n.272_273delinsTC c.166-18_166-17delinsTC (n.166-18_166-17delinsTC) | |
14 | g.90404439_90404440delinsTG | CA2579770700 | CALM1 | c.346_347delinsTG (p.Lys116Ter) c.238_239delinsTG (p.Lys80Ter) c.349_350delinsTG (p.Lys117Ter) c.218_219delinsTG (p.Lys73Met) c.239_240delinsTG (p.Lys80Met) n.2476_2477delinsTG n.398_399delinsTG n.272_273delinsTG c.166-18_166-17delinsTG (n.166-18_166-17delinsTG) | |
14 | g.90404439_90404440delinsTT | CA2579772232 | CALM1 | c.346_347delinsTT (p.Lys116Leu) c.238_239delinsTT (p.Lys80Leu) c.349_350delinsTT (p.Lys117Leu) c.218_219delinsTT (p.Lys73Ile) c.239_240delinsTT (p.Lys80Ile) n.2476_2477delinsTT n.398_399delinsTT n.272_273delinsTT c.166-18_166-17delinsTT (n.166-18_166-17delinsTT) | |
14 | g.90404439_90404441delinsCAG | CA2579774272 | CALM1 | c.346_348delinsCAG (p.Lys116Gln) c.238_240delinsCAG (p.Lys80Gln) c.349_351delinsCAG (p.Lys117Gln) c.218_220delinsCAG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCAG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCAG n.398_400delinsCAG n.272_274delinsCAG c.166-18_166-16delinsCAG (n.166-18_166-16delinsCAG) | |
14 | g.90404439_90404441delinsCAT | CA2579773847 | CALM1 | c.346_348delinsCAT (p.Lys116His) c.238_240delinsCAT (p.Lys80His) c.349_351delinsCAT (p.Lys117His) c.218_220delinsCAT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCAT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCAT n.398_400delinsCAT n.272_274delinsCAT c.166-18_166-16delinsCAT (n.166-18_166-16delinsCAT) | |
14 | g.90404439_90404441delinsCCG | CA2579771937 | CALM1 | c.346_348delinsCCG (p.Lys116Pro) c.238_240delinsCCG (p.Lys80Pro) c.349_351delinsCCG (p.Lys117Pro) c.218_220delinsCCG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCCG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCCG n.398_400delinsCCG n.272_274delinsCCG c.166-18_166-16delinsCCG (n.166-18_166-16delinsCCG) | |
14 | g.90404439_90404441delinsCCT | CA2579771006 | CALM1 | c.346_348delinsCCT (p.Lys116Pro) c.238_240delinsCCT (p.Lys80Pro) c.349_351delinsCCT (p.Lys117Pro) c.218_220delinsCCT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCCT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCCT n.398_400delinsCCT n.272_274delinsCCT c.166-18_166-16delinsCCT (n.166-18_166-16delinsCCT) | |
14 | g.90404439_90404441delinsCGG | CA2579772448 | CALM1 | c.346_348delinsCGG (p.Lys116Arg) c.238_240delinsCGG (p.Lys80Arg) c.349_351delinsCGG (p.Lys117Arg) c.218_220delinsCGG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCGG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCGG n.398_400delinsCGG n.272_274delinsCGG c.166-18_166-16delinsCGG (n.166-18_166-16delinsCGG) | |
14 | g.90404439_90404441delinsCGT | CA2579774291 | CALM1 | c.346_348delinsCGT (p.Lys116Arg) c.238_240delinsCGT (p.Lys80Arg) c.349_351delinsCGT (p.Lys117Arg) c.218_220delinsCGT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCGT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCGT n.398_400delinsCGT n.272_274delinsCGT c.166-18_166-16delinsCGT (n.166-18_166-16delinsCGT) | |
14 | g.90404439_90404441delinsCTG | CA2579770946 | CALM1 | c.346_348delinsCTG (p.Lys116Leu) c.238_240delinsCTG (p.Lys80Leu) c.349_351delinsCTG (p.Lys117Leu) c.218_220delinsCTG (p.Lys73_Thr74delinsThrAla) c.239_241delinsCTG (p.Lys80_Thr81delinsThrAla) n.2476_2478delinsCTG n.398_400delinsCTG n.272_274delinsCTG c.166-18_166-16delinsCTG (n.166-18_166-16delinsCTG) | |
14 | g.90404439_90404441delinsCTT | CA2579770750 | CALM1 | c.346_348delinsCTT (p.Lys116Leu) c.238_240delinsCTT (p.Lys80Leu) c.349_351delinsCTT (p.Lys117Leu) c.218_220delinsCTT (p.Lys73_Thr74delinsThrSer) c.239_241delinsCTT (p.Lys80_Thr81delinsThrSer) n.2476_2478delinsCTT n.398_400delinsCTT n.272_274delinsCTT c.166-18_166-16delinsCTT (n.166-18_166-16delinsCTT) | |
14 | g.90404439_90404441delinsGAC | CA2579770437 | CALM1 | c.346_348delinsGAC (p.Lys116Asp) c.238_240delinsGAC (p.Lys80Asp) c.349_351delinsGAC (p.Lys117Asp) c.218_220delinsGAC (p.Lys73_Thr74delinsArgPro) c.239_241delinsGAC (p.Lys80_Thr81delinsArgPro) n.2476_2478delinsGAC n.398_400delinsGAC n.272_274delinsGAC c.166-18_166-16delinsGAC (n.166-18_166-16delinsGAC) | |
14 | g.90404439_90404441delinsGAG | CA2579773370 | CALM1 | c.346_348delinsGAG (p.Lys116Glu) c.238_240delinsGAG (p.Lys80Glu) c.349_351delinsGAG (p.Lys117Glu) c.218_220delinsGAG (p.Lys73_Thr74delinsArgAla) c.239_241delinsGAG (p.Lys80_Thr81delinsArgAla) n.2476_2478delinsGAG n.398_400delinsGAG n.272_274delinsGAG c.166-18_166-16delinsGAG (n.166-18_166-16delinsGAG) | |
14 | g.90404439_90404441delinsGAT | CA2579769938 | CALM1 | c.346_348delinsGAT (p.Lys116Asp) c.238_240delinsGAT (p.Lys80Asp) c.349_351delinsGAT (p.Lys117Asp) c.218_220delinsGAT (p.Lys73_Thr74delinsArgSer) c.239_241delinsGAT (p.Lys80_Thr81delinsArgSer) n.2476_2478delinsGAT n.398_400delinsGAT n.272_274delinsGAT c.166-18_166-16delinsGAT (n.166-18_166-16delinsGAT) | |
14 | g.90404439_90404441delinsGCG | CA2579773023 | CALM1 | c.346_348delinsGCG (p.Lys116Ala) c.238_240delinsGCG (p.Lys80Ala) c.349_351delinsGCG (p.Lys117Ala) c.218_220delinsGCG (p.Lys73_Thr74delinsSerAla) c.239_241delinsGCG (p.Lys80_Thr81delinsSerAla) n.2476_2478delinsGCG n.398_400delinsGCG n.272_274delinsGCG c.166-18_166-16delinsGCG (n.166-18_166-16delinsGCG) | |
14 | g.90404439_90404441delinsGCT | CA2579772097 | CALM1 | c.346_348delinsGCT (p.Lys116Ala) c.238_240delinsGCT (p.Lys80Ala) c.349_351delinsGCT (p.Lys117Ala) c.218_220delinsGCT (p.Lys73_Thr74delinsSerSer) c.239_241delinsGCT (p.Lys80_Thr81delinsSerSer) n.2476_2478delinsGCT n.398_400delinsGCT n.272_274delinsGCT c.166-18_166-16delinsGCT (n.166-18_166-16delinsGCT) | |
14 | g.90404439_90404441delinsGGG | CA2579773388 | CALM1 | c.346_348delinsGGG (p.Lys116Gly) c.238_240delinsGGG (p.Lys80Gly) c.349_351delinsGGG (p.Lys117Gly) c.218_220delinsGGG (p.Lys73_Thr74delinsArgAla) c.239_241delinsGGG (p.Lys80_Thr81delinsArgAla) n.2476_2478delinsGGG n.398_400delinsGGG n.272_274delinsGGG c.166-18_166-16delinsGGG (n.166-18_166-16delinsGGG) | |
14 | g.90404439_90404441delinsGGT | CA2579772717 | CALM1 | c.346_348delinsGGT (p.Lys116Gly) c.238_240delinsGGT (p.Lys80Gly) c.349_351delinsGGT (p.Lys117Gly) c.218_220delinsGGT (p.Lys73_Thr74delinsArgSer) c.239_241delinsGGT (p.Lys80_Thr81delinsArgSer) n.2476_2478delinsGGT n.398_400delinsGGT n.272_274delinsGGT c.166-18_166-16delinsGGT (n.166-18_166-16delinsGGT) | |
14 | g.90404439_90404441delinsGTC | CA2579773848 | CALM1 | c.346_348delinsGTC (p.Lys116Val) c.238_240delinsGTC (p.Lys80Val) c.349_351delinsGTC (p.Lys117Val) c.218_220delinsGTC (p.Lys73_Thr74delinsSerPro) c.239_241delinsGTC (p.Lys80_Thr81delinsSerPro) n.2476_2478delinsGTC n.398_400delinsGTC n.272_274delinsGTC c.166-18_166-16delinsGTC (n.166-18_166-16delinsGTC) | |
14 | g.90404439_90404441delinsGTG | CA2579772954 | CALM1 | c.346_348delinsGTG (p.Lys116Val) c.238_240delinsGTG (p.Lys80Val) c.349_351delinsGTG (p.Lys117Val) c.218_220delinsGTG (p.Lys73_Thr74delinsSerAla) c.239_241delinsGTG (p.Lys80_Thr81delinsSerAla) n.2476_2478delinsGTG n.398_400delinsGTG n.272_274delinsGTG c.166-18_166-16delinsGTG (n.166-18_166-16delinsGTG) | |
14 | g.90404439_90404441delinsGTT | CA2579771949 | CALM1 | c.346_348delinsGTT (p.Lys116Val) c.238_240delinsGTT (p.Lys80Val) c.349_351delinsGTT (p.Lys117Val) c.218_220delinsGTT (p.Lys73_Thr74delinsSerSer) c.239_241delinsGTT (p.Lys80_Thr81delinsSerSer) n.2476_2478delinsGTT n.398_400delinsGTT n.272_274delinsGTT c.166-18_166-16delinsGTT (n.166-18_166-16delinsGTT) | |
14 | g.90404439_90404441delinsTAG | CA2579772696 | CALM1 | c.346_348delinsTAG (p.Lys116Ter) c.238_240delinsTAG (p.Lys80Ter) c.349_351delinsTAG (p.Lys117Ter) c.218_220delinsTAG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTAG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTAG n.398_400delinsTAG n.272_274delinsTAG c.166-18_166-16delinsTAG (n.166-18_166-16delinsTAG) | |
14 | g.90404439_90404441delinsTAT | CA2579772518 | CALM1 | c.346_348delinsTAT (p.Lys116Tyr) c.238_240delinsTAT (p.Lys80Tyr) c.349_351delinsTAT (p.Lys117Tyr) c.218_220delinsTAT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTAT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTAT n.398_400delinsTAT n.272_274delinsTAT c.166-18_166-16delinsTAT (n.166-18_166-16delinsTAT) | |
14 | g.90404439_90404441delinsTCG | CA2579773896 | CALM1 | c.346_348delinsTCG (p.Lys116Ser) c.238_240delinsTCG (p.Lys80Ser) c.349_351delinsTCG (p.Lys117Ser) c.218_220delinsTCG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTCG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTCG n.398_400delinsTCG n.272_274delinsTCG c.166-18_166-16delinsTCG (n.166-18_166-16delinsTCG) | |
14 | g.90404439_90404441delinsTCT | CA2579770986 | CALM1 | c.346_348delinsTCT (p.Lys116Ser) c.238_240delinsTCT (p.Lys80Ser) c.349_351delinsTCT (p.Lys117Ser) c.218_220delinsTCT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTCT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTCT n.398_400delinsTCT n.272_274delinsTCT c.166-18_166-16delinsTCT (n.166-18_166-16delinsTCT) | |
14 | g.90404439_90404441delinsTGG | CA2579771815 | CALM1 | c.346_348delinsTGG (p.Lys116Trp) c.238_240delinsTGG (p.Lys80Trp) c.349_351delinsTGG (p.Lys117Trp) c.218_220delinsTGG (p.Lys73_Thr74delinsMetAla) c.239_241delinsTGG (p.Lys80_Thr81delinsMetAla) n.2476_2478delinsTGG n.398_400delinsTGG n.272_274delinsTGG c.166-18_166-16delinsTGG (n.166-18_166-16delinsTGG) | |
14 | g.90404439_90404441delinsTTG | CA2579771408 | CALM1 | c.346_348delinsTTG (p.Lys116Leu) c.238_240delinsTTG (p.Lys80Leu) c.349_351delinsTTG (p.Lys117Leu) c.218_220delinsTTG (p.Lys73_Thr74delinsIleAla) c.239_241delinsTTG (p.Lys80_Thr81delinsIleAla) n.2476_2478delinsTTG n.398_400delinsTTG n.272_274delinsTTG c.166-18_166-16delinsTTG (n.166-18_166-16delinsTTG) | |
14 | g.90404439_90404441delinsTTT | CA2579772732 | CALM1 | c.346_348delinsTTT (p.Lys116Phe) c.238_240delinsTTT (p.Lys80Phe) c.349_351delinsTTT (p.Lys117Phe) c.218_220delinsTTT (p.Lys73_Thr74delinsIleSer) c.239_241delinsTTT (p.Lys80_Thr81delinsIleSer) n.2476_2478delinsTTT n.398_400delinsTTT n.272_274delinsTTT c.166-18_166-16delinsTTT (n.166-18_166-16delinsTTT) | |
14 | g.90404440A>C | CA390690238 | CALM1 | c.347A>C (p.Lys116Thr) c.239A>C (p.Lys80Thr) c.350A>C (p.Lys117Thr) c.219A>C (p.Lys73Asn) c.240A>C (p.Lys80Asn) n.2477A>C n.399A>C n.273A>C c.166-17A>C (n.166-17A>C) | |
14 | g.90404440A>G | CA390690239 | CALM1 | c.347A>G (p.Lys116Arg) c.239A>G (p.Lys80Arg) c.350A>G (p.Lys117Arg) c.219A>G (p.Lys73=) c.240A>G (p.Lys80=) n.2477A>G n.399A>G n.273A>G c.166-17A>G (n.166-17A>G) | |
14 | g.90404440A>T | CA390690240 | CALM1 | c.347A>T (p.Lys116Ile) c.239A>T (p.Lys80Ile) c.350A>T (p.Lys117Ile) c.219A>T (p.Lys73Asn) c.240A>T (p.Lys80Asn) n.2477A>T n.399A>T n.273A>T c.166-17A>T (n.166-17A>T) | |
14 | g.90404440_90404441delinsCC | CA2579773346 | CALM1 | c.347_348delinsCC (p.Lys116Thr) c.239_240delinsCC (p.Lys80Thr) c.350_351delinsCC (p.Lys117Thr) c.219_220delinsCC (p.Lys73_Thr74delinsAsnPro) c.240_241delinsCC (p.Lys80_Thr81delinsAsnPro) n.2477_2478delinsCC n.399_400delinsCC n.273_274delinsCC c.166-17_166-16delinsCC (n.166-17_166-16delinsCC) | |
14 | g.90404440_90404441delinsCG | CA2579771236 | CALM1 | c.347_348delinsCG (p.Lys116Thr) c.239_240delinsCG (p.Lys80Thr) c.350_351delinsCG (p.Lys117Thr) c.219_220delinsCG (p.Lys73_Thr74delinsAsnAla) c.240_241delinsCG (p.Lys80_Thr81delinsAsnAla) n.2477_2478delinsCG n.399_400delinsCG n.273_274delinsCG c.166-17_166-16delinsCG (n.166-17_166-16delinsCG) | |
14 | g.90404440_90404441delinsCT | CA2579769974 | CALM1 | c.347_348delinsCT (p.Lys116Thr) c.239_240delinsCT (p.Lys80Thr) c.350_351delinsCT (p.Lys117Thr) c.219_220delinsCT (p.Lys73_Thr74delinsAsnSer) c.240_241delinsCT (p.Lys80_Thr81delinsAsnSer) n.2477_2478delinsCT n.399_400delinsCT n.273_274delinsCT c.166-17_166-16delinsCT (n.166-17_166-16delinsCT) | |
14 | g.90404440_90404441delinsGG | CA2579770232 | CALM1 | c.347_348delinsGG (p.Lys116Arg) c.239_240delinsGG (p.Lys80Arg) c.350_351delinsGG (p.Lys117Arg) c.219_220delinsGG (p.Thr74Ala) c.240_241delinsGG (p.Thr81Ala) n.2477_2478delinsGG n.399_400delinsGG n.273_274delinsGG c.166-17_166-16delinsGG (n.166-17_166-16delinsGG) | |
14 | g.90404440_90404441delinsGT | CA2579774060 | CALM1 | c.347_348delinsGT (p.Lys116Ser) c.239_240delinsGT (p.Lys80Ser) c.350_351delinsGT (p.Lys117Ser) c.219_220delinsGT (p.Thr74Ser) c.240_241delinsGT (p.Thr81Ser) n.2477_2478delinsGT n.399_400delinsGT n.273_274delinsGT c.166-17_166-16delinsGT (n.166-17_166-16delinsGT) | |
14 | g.90404440_90404441delinsTC | CA2579772885 | CALM1 | c.347_348delinsTC (p.Lys116Ile) c.239_240delinsTC (p.Lys80Ile) c.350_351delinsTC (p.Lys117Ile) c.219_220delinsTC (p.Lys73_Thr74delinsAsnPro) c.240_241delinsTC (p.Lys80_Thr81delinsAsnPro) n.2477_2478delinsTC n.399_400delinsTC n.273_274delinsTC c.166-17_166-16delinsTC (n.166-17_166-16delinsTC) | |
14 | g.90404440_90404441delinsTG | CA2579770682 | CALM1 | c.347_348delinsTG (p.Lys116Met) c.239_240delinsTG (p.Lys80Met) c.350_351delinsTG (p.Lys117Met) c.219_220delinsTG (p.Lys73_Thr74delinsAsnAla) c.240_241delinsTG (p.Lys80_Thr81delinsAsnAla) n.2477_2478delinsTG n.399_400delinsTG n.273_274delinsTG c.166-17_166-16delinsTG (n.166-17_166-16delinsTG) | |
14 | g.90404440_90404441delinsTT | CA2579771419 | CALM1 | c.347_348delinsTT (p.Lys116Ile) c.239_240delinsTT (p.Lys80Ile) c.350_351delinsTT (p.Lys117Ile) c.219_220delinsTT (p.Lys73_Thr74delinsAsnSer) c.240_241delinsTT (p.Lys80_Thr81delinsAsnSer) n.2477_2478delinsTT n.399_400delinsTT n.273_274delinsTT c.166-17_166-16delinsTT (n.166-17_166-16delinsTT) | |
14 | g.90404441A>C | CA390690241 | CALM1 | c.348A>C (p.Lys116Asn) c.240A>C (p.Lys80Asn) c.351A>C (p.Lys117Asn) c.220A>C (p.Thr74Pro) c.241A>C (p.Thr81Pro) n.2478A>C n.400A>C n.274A>C c.166-16A>C (n.166-16A>C) | |
14 | g.90404441A>G | CA487760222 | CALM1 | c.348A>G (p.Lys116=) c.240A>G (p.Lys80=) c.351A>G (p.Lys117=) c.220A>G (p.Thr74Ala) c.241A>G (p.Thr81Ala) n.2478A>G n.400A>G n.274A>G c.166-16A>G (n.166-16A>G) | dbSNP |
14 | g.90404441A>T | CA390690242 | CALM1 | c.348A>T (p.Lys116Asn) c.240A>T (p.Lys80Asn) c.351A>T (p.Lys117Asn) c.220A>T (p.Thr74Ser) c.241A>T (p.Thr81Ser) n.2478A>T n.400A>T n.274A>T c.166-16A>T (n.166-16A>T) | |
14 | g.90404442C>A | CA390690243 | CALM1 | c.349C>A (p.Leu117Ile) c.241C>A (p.Leu81Ile) c.352C>A (p.Leu118Ile) c.221C>A (p.Thr74Asn) c.242C>A (p.Thr81Asn) n.2479C>A n.401C>A n.275C>A c.166-15C>A (n.166-15C>A) | |
14 | g.90404442C>G | CA390690244 | CALM1 | c.349C>G (p.Leu117Val) c.241C>G (p.Leu81Val) c.352C>G (p.Leu118Val) c.221C>G (p.Thr74Ser) c.242C>G (p.Thr81Ser) n.2479C>G n.401C>G n.275C>G c.166-15C>G (n.166-15C>G) | |
14 | g.90404442C>T | CA487760228 | CALM1 | c.349C>T (p.Leu117=) c.241C>T (p.Leu81=) c.352C>T (p.Leu118=) c.221C>T (p.Thr74Ile) c.242C>T (p.Thr81Ile) n.2479C>T n.401C>T n.275C>T c.166-15C>T (n.166-15C>T) | |
14 | g.90404442_90404443delinsAA | CA2579770542 | CALM1 | c.349_350delinsAA (p.Leu117Lys) c.241_242delinsAA (p.Leu81Lys) c.352_353delinsAA (p.Leu118Lys) c.221_222delinsAA (p.Thr74Lys) c.242_243delinsAA (p.Thr81Lys) n.2479_2480delinsAA n.401_402delinsAA n.275_276delinsAA c.166-15_166-14delinsAA (n.166-15_166-14delinsAA) | |
14 | g.90404442_90404443delinsAC | CA2579773836 | CALM1 | c.349_350delinsAC (p.Leu117Thr) c.241_242delinsAC (p.Leu81Thr) c.352_353delinsAC (p.Leu118Thr) c.221_222delinsAC (p.Thr74Asn) c.242_243delinsAC (p.Thr81Asn) n.2479_2480delinsAC n.401_402delinsAC n.275_276delinsAC c.166-15_166-14delinsAC (n.166-15_166-14delinsAC) | |
14 | g.90404442_90404443delinsAG | CA2579771228 | CALM1 | c.349_350delinsAG (p.Leu117Arg) c.241_242delinsAG (p.Leu81Arg) c.352_353delinsAG (p.Leu118Arg) c.221_222delinsAG (p.Thr74Lys) c.242_243delinsAG (p.Thr81Lys) n.2479_2480delinsAG n.401_402delinsAG n.275_276delinsAG c.166-15_166-14delinsAG (n.166-15_166-14delinsAG) | |
14 | g.90404442_90404443delinsGA | CA2579773274 | CALM1 | c.349_350delinsGA (p.Leu117Glu) c.241_242delinsGA (p.Leu81Glu) c.352_353delinsGA (p.Leu118Glu) c.221_222delinsGA (p.Thr74Arg) c.242_243delinsGA (p.Thr81Arg) n.2479_2480delinsGA n.401_402delinsGA n.275_276delinsGA c.166-15_166-14delinsGA (n.166-15_166-14delinsGA) | |
14 | g.90404442_90404443delinsGC | CA2579769842 | CALM1 | c.349_350delinsGC (p.Leu117Ala) c.241_242delinsGC (p.Leu81Ala) c.352_353delinsGC (p.Leu118Ala) c.221_222delinsGC (p.Thr74Ser) c.242_243delinsGC (p.Thr81Ser) n.2479_2480delinsGC n.401_402delinsGC n.275_276delinsGC c.166-15_166-14delinsGC (n.166-15_166-14delinsGC) | |
14 | g.90404442_90404443delinsGG | CA2579772199 | CALM1 | c.349_350delinsGG (p.Leu117Gly) c.241_242delinsGG (p.Leu81Gly) c.352_353delinsGG (p.Leu118Gly) c.221_222delinsGG (p.Thr74Arg) c.242_243delinsGG (p.Thr81Arg) n.2479_2480delinsGG n.401_402delinsGG n.275_276delinsGG c.166-15_166-14delinsGG (n.166-15_166-14delinsGG) | |
14 | g.90404442_90404443delinsTA | CA2579774324 | CALM1 | c.349_350delinsTA (p.Leu117Ter) c.241_242delinsTA (p.Leu81Ter) c.352_353delinsTA (p.Leu118Ter) c.221_222delinsTA (p.Thr74Ile) c.242_243delinsTA (p.Thr81Ile) n.2479_2480delinsTA n.401_402delinsTA n.275_276delinsTA c.166-15_166-14delinsTA (n.166-15_166-14delinsTA) | |
14 | g.90404442_90404443delinsTC | CA2579773546 | CALM1 | c.349_350delinsTC (p.Leu117Ser) c.241_242delinsTC (p.Leu81Ser) c.352_353delinsTC (p.Leu118Ser) c.221_222delinsTC (p.Thr74Ile) c.242_243delinsTC (p.Thr81Ile) n.2479_2480delinsTC n.401_402delinsTC n.275_276delinsTC c.166-15_166-14delinsTC (n.166-15_166-14delinsTC) | |
14 | g.90404442_90404443delinsTG | CA2579773539 | CALM1 | c.349_350delinsTG (p.Leu117Ter) c.241_242delinsTG (p.Leu81Ter) c.352_353delinsTG (p.Leu118Ter) c.221_222delinsTG (p.Thr74Met) c.242_243delinsTG (p.Thr81Met) n.2479_2480delinsTG n.401_402delinsTG n.275_276delinsTG c.166-15_166-14delinsTG (n.166-15_166-14delinsTG) | |
14 | g.90404442_90404444delinsAAG | CA2579771008 | CALM1 | c.349_351delinsAAG (p.Leu117Lys) c.241_243delinsAAG (p.Leu81Lys) c.352_354delinsAAG (p.Leu118Lys) c.221_223delinsAAG (p.Thr74_Asn75delinsLysAsp) c.242_244delinsAAG (p.Thr81_Asn82delinsLysAsp) n.2479_2481delinsAAG n.401_403delinsAAG n.275_277delinsAAG c.166-15_166-13delinsAAG (n.166-15_166-13delinsAAG) | |
14 | g.90404442_90404444delinsAAT | CA2579773983 | CALM1 | c.349_351delinsAAT (p.Leu117Asn) c.241_243delinsAAT (p.Leu81Asn) c.352_354delinsAAT (p.Leu118Asn) c.221_223delinsAAT (p.Thr74_Asn75delinsLysTyr) c.242_244delinsAAT (p.Thr81_Asn82delinsLysTyr) n.2479_2481delinsAAT n.401_403delinsAAT n.275_277delinsAAT c.166-15_166-13delinsAAT (n.166-15_166-13delinsAAT) | |
14 | g.90404442_90404444delinsACG | CA2579772541 | CALM1 | c.349_351delinsACG (p.Leu117Thr) c.241_243delinsACG (p.Leu81Thr) c.352_354delinsACG (p.Leu118Thr) c.221_223delinsACG (p.Thr74_Asn75delinsAsnAsp) c.242_244delinsACG (p.Thr81_Asn82delinsAsnAsp) n.2479_2481delinsACG n.401_403delinsACG n.275_277delinsACG c.166-15_166-13delinsACG (n.166-15_166-13delinsACG) | |
14 | g.90404442_90404444delinsAGG | CA2579772480 | CALM1 | c.349_351delinsAGG (p.Leu117Arg) c.241_243delinsAGG (p.Leu81Arg) c.352_354delinsAGG (p.Leu118Arg) c.221_223delinsAGG (p.Thr74_Asn75delinsLysAsp) c.242_244delinsAGG (p.Thr81_Asn82delinsLysAsp) n.2479_2481delinsAGG n.401_403delinsAGG n.275_277delinsAGG c.166-15_166-13delinsAGG (n.166-15_166-13delinsAGG) | |
14 | g.90404442_90404444delinsAGT | CA2579771244 | CALM1 | c.349_351delinsAGT (p.Leu117Ser) c.241_243delinsAGT (p.Leu81Ser) c.352_354delinsAGT (p.Leu118Ser) c.221_223delinsAGT (p.Thr74_Asn75delinsLysTyr) c.242_244delinsAGT (p.Thr81_Asn82delinsLysTyr) n.2479_2481delinsAGT n.401_403delinsAGT n.275_277delinsAGT c.166-15_166-13delinsAGT (n.166-15_166-13delinsAGT) | |
14 | g.90404442_90404444delinsATG | CA2579772264 | CALM1 | c.349_351delinsATG (p.Leu117Met) c.241_243delinsATG (p.Leu81Met) c.352_354delinsATG (p.Leu118Met) c.221_223delinsATG (p.Thr74_Asn75delinsAsnAsp) c.242_244delinsATG (p.Thr81_Asn82delinsAsnAsp) n.2479_2481delinsATG n.401_403delinsATG n.275_277delinsATG c.166-15_166-13delinsATG (n.166-15_166-13delinsATG) | |
14 | g.90404442_90404444delinsATT | CA2579769798 | CALM1 | c.349_351delinsATT (p.Leu117Ile) c.241_243delinsATT (p.Leu81Ile) c.352_354delinsATT (p.Leu118Ile) c.221_223delinsATT (p.Thr74_Asn75delinsAsnTyr) c.242_244delinsATT (p.Thr81_Asn82delinsAsnTyr) n.2479_2481delinsATT n.401_403delinsATT n.275_277delinsATT c.166-15_166-13delinsATT (n.166-15_166-13delinsATT) | |
14 | g.90404442_90404444delinsGAG | CA2579770816 | CALM1 | c.349_351delinsGAG (p.Leu117Glu) c.241_243delinsGAG (p.Leu81Glu) c.352_354delinsGAG (p.Leu118Glu) c.221_223delinsGAG (p.Thr74_Asn75delinsArgAsp) c.242_244delinsGAG (p.Thr81_Asn82delinsArgAsp) n.2479_2481delinsGAG n.401_403delinsGAG n.275_277delinsGAG c.166-15_166-13delinsGAG (n.166-15_166-13delinsGAG) | |
14 | g.90404442_90404444delinsGAT | CA2579770840 | CALM1 | c.349_351delinsGAT (p.Leu117Asp) c.241_243delinsGAT (p.Leu81Asp) c.352_354delinsGAT (p.Leu118Asp) c.221_223delinsGAT (p.Thr74_Asn75delinsArgTyr) c.242_244delinsGAT (p.Thr81_Asn82delinsArgTyr) n.2479_2481delinsGAT n.401_403delinsGAT n.275_277delinsGAT c.166-15_166-13delinsGAT (n.166-15_166-13delinsGAT) | |
14 | g.90404442_90404444delinsGCG | CA2579770115 | CALM1 | c.349_351delinsGCG (p.Leu117Ala) c.241_243delinsGCG (p.Leu81Ala) c.352_354delinsGCG (p.Leu118Ala) c.221_223delinsGCG (p.Thr74_Asn75delinsSerAsp) c.242_244delinsGCG (p.Thr81_Asn82delinsSerAsp) n.2479_2481delinsGCG n.401_403delinsGCG n.275_277delinsGCG c.166-15_166-13delinsGCG (n.166-15_166-13delinsGCG) | |
14 | g.90404442_90404444delinsGGG | CA2579772191 | CALM1 | c.349_351delinsGGG (p.Leu117Gly) c.241_243delinsGGG (p.Leu81Gly) c.352_354delinsGGG (p.Leu118Gly) c.221_223delinsGGG (p.Thr74_Asn75delinsArgAsp) c.242_244delinsGGG (p.Thr81_Asn82delinsArgAsp) n.2479_2481delinsGGG n.401_403delinsGGG n.275_277delinsGGG c.166-15_166-13delinsGGG (n.166-15_166-13delinsGGG) | |
14 | g.90404442_90404444delinsGGT | CA2579773743 | CALM1 | c.349_351delinsGGT (p.Leu117Gly) c.241_243delinsGGT (p.Leu81Gly) c.352_354delinsGGT (p.Leu118Gly) c.221_223delinsGGT (p.Thr74_Asn75delinsArgTyr) c.242_244delinsGGT (p.Thr81_Asn82delinsArgTyr) n.2479_2481delinsGGT n.401_403delinsGGT n.275_277delinsGGT c.166-15_166-13delinsGGT (n.166-15_166-13delinsGGT) | |
14 | g.90404442_90404444delinsGTG | CA2579770493 | CALM1 | c.349_351delinsGTG (p.Leu117Val) c.241_243delinsGTG (p.Leu81Val) c.352_354delinsGTG (p.Leu118Val) c.221_223delinsGTG (p.Thr74_Asn75delinsSerAsp) c.242_244delinsGTG (p.Thr81_Asn82delinsSerAsp) n.2479_2481delinsGTG n.401_403delinsGTG n.275_277delinsGTG c.166-15_166-13delinsGTG (n.166-15_166-13delinsGTG) | |
14 | g.90404442_90404444delinsGTT | CA2579771900 | CALM1 | c.349_351delinsGTT (p.Leu117Val) c.241_243delinsGTT (p.Leu81Val) c.352_354delinsGTT (p.Leu118Val) c.221_223delinsGTT (p.Thr74_Asn75delinsSerTyr) c.242_244delinsGTT (p.Thr81_Asn82delinsSerTyr) n.2479_2481delinsGTT n.401_403delinsGTT n.275_277delinsGTT c.166-15_166-13delinsGTT (n.166-15_166-13delinsGTT) | |
14 | g.90404442_90404444delinsTCG | CA2579772600 | CALM1 | c.349_351delinsTCG (p.Leu117Ser) c.241_243delinsTCG (p.Leu81Ser) c.352_354delinsTCG (p.Leu118Ser) c.221_223delinsTCG (p.Thr74_Asn75delinsIleAsp) c.242_244delinsTCG (p.Thr81_Asn82delinsIleAsp) n.2479_2481delinsTCG n.401_403delinsTCG n.275_277delinsTCG c.166-15_166-13delinsTCG (n.166-15_166-13delinsTCG) | |
14 | g.90404442_90404444delinsTGG | CA2579771200 | CALM1 | c.349_351delinsTGG (p.Leu117Trp) c.241_243delinsTGG (p.Leu81Trp) c.352_354delinsTGG (p.Leu118Trp) c.221_223delinsTGG (p.Thr74_Asn75delinsMetAsp) c.242_244delinsTGG (p.Thr81_Asn82delinsMetAsp) n.2479_2481delinsTGG n.401_403delinsTGG n.275_277delinsTGG c.166-15_166-13delinsTGG (n.166-15_166-13delinsTGG) | |
14 | g.90404442_90404444delinsTGT | CA2579773524 | CALM1 | c.349_351delinsTGT (p.Leu117Cys) c.241_243delinsTGT (p.Leu81Cys) c.352_354delinsTGT (p.Leu118Cys) c.221_223delinsTGT (p.Thr74_Asn75delinsMetTyr) c.242_244delinsTGT (p.Thr81_Asn82delinsMetTyr) n.2479_2481delinsTGT n.401_403delinsTGT n.275_277delinsTGT c.166-15_166-13delinsTGT (n.166-15_166-13delinsTGT) | |
14 | g.90404442_90404444delinsTTG | CA2579774238 | CALM1 | c.349_351delinsTTG (p.Leu117=) c.241_243delinsTTG (p.Leu81=) c.352_354delinsTTG (p.Leu118=) c.221_223delinsTTG (p.Thr74_Asn75delinsIleAsp) c.242_244delinsTTG (p.Thr81_Asn82delinsIleAsp) n.2479_2481delinsTTG n.401_403delinsTTG n.275_277delinsTTG c.166-15_166-13delinsTTG (n.166-15_166-13delinsTTG) | |
14 | g.90404442_90404444delinsTTT | CA2579773552 | CALM1 | c.349_351delinsTTT (p.Leu117Phe) c.241_243delinsTTT (p.Leu81Phe) c.352_354delinsTTT (p.Leu118Phe) c.221_223delinsTTT (p.Thr74_Asn75delinsIleTyr) c.242_244delinsTTT (p.Thr81_Asn82delinsIleTyr) n.2479_2481delinsTTT n.401_403delinsTTT n.275_277delinsTTT c.166-15_166-13delinsTTT (n.166-15_166-13delinsTTT) | |
14 | g.90404443T>A | CA390690245 | CALM1 | c.350T>A (p.Leu117Gln) c.242T>A (p.Leu81Gln) c.353T>A (p.Leu118Gln) c.222T>A (p.Thr74=) c.243T>A (p.Thr81=) n.2480T>A n.402T>A n.276T>A c.166-14T>A (n.166-14T>A) | |
14 | g.90404443T>C | CA390690246 | CALM1 | c.350T>C (p.Leu117Pro) c.242T>C (p.Leu81Pro) c.353T>C (p.Leu118Pro) c.222T>C (p.Thr74=) c.243T>C (p.Thr81=) n.2480T>C n.402T>C n.276T>C c.166-14T>C (n.166-14T>C) | |
14 | g.90404443T>G | CA390690247 | CALM1 | c.350T>G (p.Leu117Arg) c.242T>G (p.Leu81Arg) c.353T>G (p.Leu118Arg) c.222T>G (p.Thr74=) c.243T>G (p.Thr81=) n.2480T>G n.402T>G n.276T>G c.166-14T>G (n.166-14T>G) | |
14 | g.90404443_90404444delinsAG | CA2579773215 | CALM1 | c.350_351delinsAG (p.Leu117Gln) c.242_243delinsAG (p.Leu81Gln) c.353_354delinsAG (p.Leu118Gln) c.222_223delinsAG (p.Asn75Asp) c.243_244delinsAG (p.Asn82Asp) n.2480_2481delinsAG n.402_403delinsAG n.276_277delinsAG c.166-14_166-13delinsAG (n.166-14_166-13delinsAG) | |
14 | g.90404443_90404444delinsAT | CA2579771163 | CALM1 | c.350_351delinsAT (p.Leu117His) c.242_243delinsAT (p.Leu81His) c.353_354delinsAT (p.Leu118His) c.222_223delinsAT (p.Asn75Tyr) c.243_244delinsAT (p.Asn82Tyr) n.2480_2481delinsAT n.402_403delinsAT n.276_277delinsAT c.166-14_166-13delinsAT (n.166-14_166-13delinsAT) | |
14 | g.90404443_90404444delinsCC | CA2579769956 | CALM1 | c.350_351delinsCC (p.Leu117Pro) c.242_243delinsCC (p.Leu81Pro) c.353_354delinsCC (p.Leu118Pro) c.222_223delinsCC (p.Asn75His) c.243_244delinsCC (p.Asn82His) n.2480_2481delinsCC n.402_403delinsCC n.276_277delinsCC c.166-14_166-13delinsCC (n.166-14_166-13delinsCC) | |
14 | g.90404443_90404444delinsCG | CA2579773892 | CALM1 | c.350_351delinsCG (p.Leu117Pro) c.242_243delinsCG (p.Leu81Pro) c.353_354delinsCG (p.Leu118Pro) c.222_223delinsCG (p.Asn75Asp) c.243_244delinsCG (p.Asn82Asp) n.2480_2481delinsCG n.402_403delinsCG n.276_277delinsCG c.166-14_166-13delinsCG (n.166-14_166-13delinsCG) | |
14 | g.90404443_90404444delinsCT | CA2579771388 | CALM1 | c.350_351delinsCT (p.Leu117Pro) c.242_243delinsCT (p.Leu81Pro) c.353_354delinsCT (p.Leu118Pro) c.222_223delinsCT (p.Asn75Tyr) c.243_244delinsCT (p.Asn82Tyr) n.2480_2481delinsCT n.402_403delinsCT n.276_277delinsCT c.166-14_166-13delinsCT (n.166-14_166-13delinsCT) | |
14 | g.90404443_90404444delinsGG | CA2579771748 | CALM1 | c.350_351delinsGG (p.Leu117Arg) c.242_243delinsGG (p.Leu81Arg) c.353_354delinsGG (p.Leu118Arg) c.222_223delinsGG (p.Asn75Asp) c.243_244delinsGG (p.Asn82Asp) n.2480_2481delinsGG n.402_403delinsGG n.276_277delinsGG c.166-14_166-13delinsGG (n.166-14_166-13delinsGG) | |
14 | g.90404443_90404444delinsGT | CA2579774239 | CALM1 | c.350_351delinsGT (p.Leu117Arg) c.242_243delinsGT (p.Leu81Arg) c.353_354delinsGT (p.Leu118Arg) c.222_223delinsGT (p.Asn75Tyr) c.243_244delinsGT (p.Asn82Tyr) n.2480_2481delinsGT n.402_403delinsGT n.276_277delinsGT c.166-14_166-13delinsGT (n.166-14_166-13delinsGT) | |
14 | g.90404444A>C | CA487760238 | CALM1 | c.351A>C (p.Leu117=) c.243A>C (p.Leu81=) c.354A>C (p.Leu118=) c.223A>C (p.Asn75His) c.244A>C (p.Asn82His) n.2481A>C n.403A>C n.277A>C c.166-13A>C (n.166-13A>C) | |
14 | g.90404444A>G | CA487760236 | CALM1 | c.351A>G (p.Leu117=) c.243A>G (p.Leu81=) c.354A>G (p.Leu118=) c.223A>G (p.Asn75Asp) c.244A>G (p.Asn82Asp) n.2481A>G n.403A>G n.277A>G c.166-13A>G (n.166-13A>G) | |
14 | g.90404444A>T | CA487760233 | CALM1 | c.351A>T (p.Leu117=) c.243A>T (p.Leu81=) c.354A>T (p.Leu118=) c.223A>T (p.Asn75Tyr) c.244A>T (p.Asn82Tyr) n.2481A>T n.403A>T n.277A>T c.166-13A>T (n.166-13A>T) | |
14 | g.90404445A>C | CA390690248 | CALM1 | c.352A>C (p.Thr118Pro) c.244A>C (p.Thr82Pro) c.355A>C (p.Thr119Pro) c.224A>C (p.Asn75Thr) c.245A>C (p.Asn82Thr) n.2482A>C n.404A>C n.278A>C c.166-12A>C (n.166-12A>C) | |
14 | g.90404445A>G | CA390690249 | CALM1 | c.352A>G (p.Thr118Ala) c.244A>G (p.Thr82Ala) c.355A>G (p.Thr119Ala) c.224A>G (p.Asn75Ser) c.245A>G (p.Asn82Ser) n.2482A>G n.404A>G n.278A>G c.166-12A>G (n.166-12A>G) | |
14 | g.90404445A>T | CA390690250 | CALM1 | c.352A>T (p.Thr118Ser) c.244A>T (p.Thr82Ser) c.355A>T (p.Thr119Ser) c.224A>T (p.Asn75Ile) c.245A>T (p.Asn82Ile) n.2482A>T n.404A>T n.278A>T c.166-12A>T (n.166-12A>T) | |
14 | g.90404445_90404446delinsCA | CA2579771808 | CALM1 | c.352_353delinsCA (p.Thr118Gln) c.244_245delinsCA (p.Thr82Gln) c.355_356delinsCA (p.Thr119Gln) c.224_225delinsCA (p.Asn75Thr) c.245_246delinsCA (p.Asn82Thr) n.2482_2483delinsCA n.404_405delinsCA n.278_279delinsCA c.166-12_166-11delinsCA (n.166-12_166-11delinsCA) | |
14 | g.90404445_90404446delinsCG | CA2579770238 | CALM1 | c.352_353delinsCG (p.Thr118Arg) c.244_245delinsCG (p.Thr82Arg) c.355_356delinsCG (p.Thr119Arg) c.224_225delinsCG (p.Asn75Thr) c.245_246delinsCG (p.Asn82Thr) n.2482_2483delinsCG n.404_405delinsCG n.278_279delinsCG c.166-12_166-11delinsCG (n.166-12_166-11delinsCG) | |
14 | g.90404445_90404446delinsCT | CA2579772463 | CALM1 | c.352_353delinsCT (p.Thr118Leu) c.244_245delinsCT (p.Thr82Leu) c.355_356delinsCT (p.Thr119Leu) c.224_225delinsCT (p.Asn75Thr) c.245_246delinsCT (p.Asn82Thr) n.2482_2483delinsCT n.404_405delinsCT n.278_279delinsCT c.166-12_166-11delinsCT (n.166-12_166-11delinsCT) | |
14 | g.90404445_90404446delinsGA | CA2579771559 | CALM1 | c.352_353delinsGA (p.Thr118Glu) c.244_245delinsGA (p.Thr82Glu) c.355_356delinsGA (p.Thr119Glu) c.224_225delinsGA (p.Asn75Arg) c.245_246delinsGA (p.Asn82Arg) n.2482_2483delinsGA n.404_405delinsGA n.278_279delinsGA c.166-12_166-11delinsGA (n.166-12_166-11delinsGA) | |
14 | g.90404445_90404446delinsGG | CA2579771886 | CALM1 | c.352_353delinsGG (p.Thr118Gly) c.244_245delinsGG (p.Thr82Gly) c.355_356delinsGG (p.Thr119Gly) c.224_225delinsGG (p.Asn75Arg) c.245_246delinsGG (p.Asn82Arg) n.2482_2483delinsGG n.404_405delinsGG n.278_279delinsGG c.166-12_166-11delinsGG (n.166-12_166-11delinsGG) | |
14 | g.90404445_90404446delinsGT | CA2579771778 | CALM1 | c.352_353delinsGT (p.Thr118Val) c.244_245delinsGT (p.Thr82Val) c.355_356delinsGT (p.Thr119Val) c.224_225delinsGT (p.Asn75Ser) c.245_246delinsGT (p.Asn82Ser) n.2482_2483delinsGT n.404_405delinsGT n.278_279delinsGT c.166-12_166-11delinsGT (n.166-12_166-11delinsGT) | |
14 | g.90404445_90404446delinsTA | CA2579771185 | CALM1 | c.352_353delinsTA (p.Thr118Ter) c.244_245delinsTA (p.Thr82Ter) c.355_356delinsTA (p.Thr119Ter) c.224_225delinsTA (p.Asn75Ile) c.245_246delinsTA (p.Asn82Ile) n.2482_2483delinsTA n.404_405delinsTA n.278_279delinsTA c.166-12_166-11delinsTA (n.166-12_166-11delinsTA) | |
14 | g.90404445_90404446delinsTG | CA2579773895 | CALM1 | c.352_353delinsTG (p.Thr118Ter) c.244_245delinsTG (p.Thr82Ter) c.355_356delinsTG (p.Thr119Ter) c.224_225delinsTG (p.Asn75Met) c.245_246delinsTG (p.Asn82Met) n.2482_2483delinsTG n.404_405delinsTG n.278_279delinsTG c.166-12_166-11delinsTG (n.166-12_166-11delinsTG) | |
14 | g.90404445_90404446delinsTT | CA2579771295 | CALM1 | c.352_353delinsTT (p.Thr118Leu) c.244_245delinsTT (p.Thr82Leu) c.355_356delinsTT (p.Thr119Leu) c.224_225delinsTT (p.Asn75Ile) c.245_246delinsTT (p.Asn82Ile) n.2482_2483delinsTT n.404_405delinsTT n.278_279delinsTT c.166-12_166-11delinsTT (n.166-12_166-11delinsTT) | |
14 | g.90404445_90404447delinsCCG | CA2579770629 | CALM1 | c.352_354delinsCCG (p.Thr118Pro) c.244_246delinsCCG (p.Thr82Pro) c.355_357delinsCCG (p.Thr119Pro) c.224_226delinsCCG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCCG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCCG n.404_406delinsCCG n.278_280delinsCCG c.166-12_166-10delinsCCG (n.166-12_166-10delinsCCG) | |
14 | g.90404445_90404447delinsCCT | CA2579773349 | CALM1 | c.352_354delinsCCT (p.Thr118Pro) c.244_246delinsCCT (p.Thr82Pro) c.355_357delinsCCT (p.Thr119Pro) c.224_226delinsCCT (p.Asn75ThrfsTer2) c.245_247delinsCCT (p.Asn82ThrfsTer2) n.2482_2484delinsCCT n.404_406delinsCCT n.278_280delinsCCT c.166-12_166-10delinsCCT (n.166-12_166-10delinsCCT) | |
14 | g.90404445_90404447delinsCGG | CA2579772464 | CALM1 | c.352_354delinsCGG (p.Thr118Arg) c.244_246delinsCGG (p.Thr82Arg) c.355_357delinsCGG (p.Thr119Arg) c.224_226delinsCGG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCGG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCGG n.404_406delinsCGG n.278_280delinsCGG c.166-12_166-10delinsCGG (n.166-12_166-10delinsCGG) | |
14 | g.90404445_90404447delinsCGT | CA2579771658 | CALM1 | c.352_354delinsCGT (p.Thr118Arg) c.244_246delinsCGT (p.Thr82Arg) c.355_357delinsCGT (p.Thr119Arg) c.224_226delinsCGT (p.Asn75ThrfsTer2) c.245_247delinsCGT (p.Asn82ThrfsTer2) n.2482_2484delinsCGT n.404_406delinsCGT n.278_280delinsCGT c.166-12_166-10delinsCGT (n.166-12_166-10delinsCGT) | |
14 | g.90404445_90404447delinsCTG | CA2579773232 | CALM1 | c.352_354delinsCTG (p.Thr118Leu) c.244_246delinsCTG (p.Thr82Leu) c.355_357delinsCTG (p.Thr119Leu) c.224_226delinsCTG (p.Asn75_Arg76delinsThrGly) c.245_247delinsCTG (p.Asn82_Arg83delinsThrGly) n.2482_2484delinsCTG n.404_406delinsCTG n.278_280delinsCTG c.166-12_166-10delinsCTG (n.166-12_166-10delinsCTG) | |
14 | g.90404445_90404447delinsCTT | CA2579771931 | CALM1 | c.352_354delinsCTT (p.Thr118Leu) c.244_246delinsCTT (p.Thr82Leu) c.355_357delinsCTT (p.Thr119Leu) c.224_226delinsCTT (p.Asn75ThrfsTer2) c.245_247delinsCTT (p.Asn82ThrfsTer2) n.2482_2484delinsCTT n.404_406delinsCTT n.278_280delinsCTT c.166-12_166-10delinsCTT (n.166-12_166-10delinsCTT) | |
14 | g.90404445_90404447delinsGAG | CA2579773354 | CALM1 | c.352_354delinsGAG (p.Thr118Glu) c.244_246delinsGAG (p.Thr82Glu) c.355_357delinsGAG (p.Thr119Glu) c.224_226delinsGAG (p.Asn75_Arg76delinsArgGly) c.245_247delinsGAG (p.Asn82_Arg83delinsArgGly) n.2482_2484delinsGAG n.404_406delinsGAG n.278_280delinsGAG c.166-12_166-10delinsGAG (n.166-12_166-10delinsGAG) | |
14 | g.90404445_90404447delinsGAT | CA2579773270 | CALM1 | c.352_354delinsGAT (p.Thr118Asp) c.244_246delinsGAT (p.Thr82Asp) c.355_357delinsGAT (p.Thr119Asp) c.224_226delinsGAT (p.Asn75ArgfsTer2) c.245_247delinsGAT (p.Asn82ArgfsTer2) n.2482_2484delinsGAT n.404_406delinsGAT n.278_280delinsGAT c.166-12_166-10delinsGAT (n.166-12_166-10delinsGAT) | |
14 | g.90404445_90404447delinsGCC | CA2579773168 | CALM1 | c.352_354delinsGCC (p.Thr118Ala) c.244_246delinsGCC (p.Thr82Ala) c.355_357delinsGCC (p.Thr119Ala) c.224_226delinsGCC (p.Asn75Ser) c.245_247delinsGCC (p.Asn82Ser) n.2482_2484delinsGCC n.404_406delinsGCC n.278_280delinsGCC c.166-12_166-10delinsGCC (n.166-12_166-10delinsGCC) | |
14 | g.90404445_90404447delinsGCG | CA2579773341 | CALM1 | c.352_354delinsGCG (p.Thr118Ala) c.244_246delinsGCG (p.Thr82Ala) c.355_357delinsGCG (p.Thr119Ala) c.224_226delinsGCG (p.Asn75_Arg76delinsSerGly) c.245_247delinsGCG (p.Asn82_Arg83delinsSerGly) n.2482_2484delinsGCG n.404_406delinsGCG n.278_280delinsGCG c.166-12_166-10delinsGCG (n.166-12_166-10delinsGCG) | |
14 | g.90404445_90404447delinsGCT | CA2579772520 | CALM1 | c.352_354delinsGCT (p.Thr118Ala) c.244_246delinsGCT (p.Thr82Ala) c.355_357delinsGCT (p.Thr119Ala) c.224_226delinsGCT (p.Asn75SerfsTer2) c.245_247delinsGCT (p.Asn82SerfsTer2) n.2482_2484delinsGCT n.404_406delinsGCT n.278_280delinsGCT c.166-12_166-10delinsGCT (n.166-12_166-10delinsGCT) | |
14 | g.90404445_90404447delinsGGC | CA2579773209 | CALM1 | c.352_354delinsGGC (p.Thr118Gly) c.244_246delinsGGC (p.Thr82Gly) c.355_357delinsGGC (p.Thr119Gly) c.224_226delinsGGC (p.Asn75Arg) c.245_247delinsGGC (p.Asn82Arg) n.2482_2484delinsGGC n.404_406delinsGGC n.278_280delinsGGC c.166-12_166-10delinsGGC (n.166-12_166-10delinsGGC) | |
14 | g.90404445_90404447delinsGGG | CA2579771089 | CALM1 | c.352_354delinsGGG (p.Thr118Gly) c.244_246delinsGGG (p.Thr82Gly) c.355_357delinsGGG (p.Thr119Gly) c.224_226delinsGGG (p.Asn75_Arg76delinsArgGly) c.245_247delinsGGG (p.Asn82_Arg83delinsArgGly) n.2482_2484delinsGGG n.404_406delinsGGG n.278_280delinsGGG c.166-12_166-10delinsGGG (n.166-12_166-10delinsGGG) | |
14 | g.90404445_90404447delinsGGT | CA2579769983 | CALM1 | c.352_354delinsGGT (p.Thr118Gly) c.244_246delinsGGT (p.Thr82Gly) c.355_357delinsGGT (p.Thr119Gly) c.224_226delinsGGT (p.Asn75ArgfsTer2) c.245_247delinsGGT (p.Asn82ArgfsTer2) n.2482_2484delinsGGT n.404_406delinsGGT n.278_280delinsGGT c.166-12_166-10delinsGGT (n.166-12_166-10delinsGGT) | |
14 | g.90404445_90404447delinsGTG | CA2579770907 | CALM1 | c.352_354delinsGTG (p.Thr118Val) c.244_246delinsGTG (p.Thr82Val) c.355_357delinsGTG (p.Thr119Val) c.224_226delinsGTG (p.Asn75_Arg76delinsSerGly) c.245_247delinsGTG (p.Asn82_Arg83delinsSerGly) n.2482_2484delinsGTG n.404_406delinsGTG n.278_280delinsGTG c.166-12_166-10delinsGTG (n.166-12_166-10delinsGTG) | |
14 | g.90404445_90404447delinsGTT | CA2579771010 | CALM1 | c.352_354delinsGTT (p.Thr118Val) c.244_246delinsGTT (p.Thr82Val) c.355_357delinsGTT (p.Thr119Val) c.224_226delinsGTT (p.Asn75SerfsTer2) c.245_247delinsGTT (p.Asn82SerfsTer2) n.2482_2484delinsGTT n.404_406delinsGTT n.278_280delinsGTT c.166-12_166-10delinsGTT (n.166-12_166-10delinsGTT) | |
14 | g.90404445_90404447delinsTAG | CA2579772628 | CALM1 | c.352_354delinsTAG (p.Thr118Ter) c.244_246delinsTAG (p.Thr82Ter) c.355_357delinsTAG (p.Thr119Ter) c.224_226delinsTAG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTAG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTAG n.404_406delinsTAG n.278_280delinsTAG c.166-12_166-10delinsTAG (n.166-12_166-10delinsTAG) | |
14 | g.90404445_90404447delinsTAT | CA2579771465 | CALM1 | c.352_354delinsTAT (p.Thr118Tyr) c.244_246delinsTAT (p.Thr82Tyr) c.355_357delinsTAT (p.Thr119Tyr) c.224_226delinsTAT (p.Asn75IlefsTer2) c.245_247delinsTAT (p.Asn82IlefsTer2) n.2482_2484delinsTAT n.404_406delinsTAT n.278_280delinsTAT c.166-12_166-10delinsTAT (n.166-12_166-10delinsTAT) | |
14 | g.90404445_90404447delinsTCC | CA2579771686 | CALM1 | c.352_354delinsTCC (p.Thr118Ser) c.244_246delinsTCC (p.Thr82Ser) c.355_357delinsTCC (p.Thr119Ser) c.224_226delinsTCC (p.Asn75Ile) c.245_247delinsTCC (p.Asn82Ile) n.2482_2484delinsTCC n.404_406delinsTCC n.278_280delinsTCC c.166-12_166-10delinsTCC (n.166-12_166-10delinsTCC) | |
14 | g.90404445_90404447delinsTCG | CA2579773883 | CALM1 | c.352_354delinsTCG (p.Thr118Ser) c.244_246delinsTCG (p.Thr82Ser) c.355_357delinsTCG (p.Thr119Ser) c.224_226delinsTCG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTCG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTCG n.404_406delinsTCG n.278_280delinsTCG c.166-12_166-10delinsTCG (n.166-12_166-10delinsTCG) | |
14 | g.90404445_90404447delinsTCT | CA2579770077 | CALM1 | c.352_354delinsTCT (p.Thr118Ser) c.244_246delinsTCT (p.Thr82Ser) c.355_357delinsTCT (p.Thr119Ser) c.224_226delinsTCT (p.Asn75IlefsTer2) c.245_247delinsTCT (p.Asn82IlefsTer2) n.2482_2484delinsTCT n.404_406delinsTCT n.278_280delinsTCT c.166-12_166-10delinsTCT (n.166-12_166-10delinsTCT) | |
14 | g.90404445_90404447delinsTGG | CA2579773261 | CALM1 | c.352_354delinsTGG (p.Thr118Trp) c.244_246delinsTGG (p.Thr82Trp) c.355_357delinsTGG (p.Thr119Trp) c.224_226delinsTGG (p.Asn75_Arg76delinsMetGly) c.245_247delinsTGG (p.Asn82_Arg83delinsMetGly) n.2482_2484delinsTGG n.404_406delinsTGG n.278_280delinsTGG c.166-12_166-10delinsTGG (n.166-12_166-10delinsTGG) | |
14 | g.90404445_90404447delinsTGT | CA2579772831 | CALM1 | c.352_354delinsTGT (p.Thr118Cys) c.244_246delinsTGT (p.Thr82Cys) c.355_357delinsTGT (p.Thr119Cys) c.224_226delinsTGT (p.Asn75MetfsTer2) c.245_247delinsTGT (p.Asn82MetfsTer2) n.2482_2484delinsTGT n.404_406delinsTGT n.278_280delinsTGT c.166-12_166-10delinsTGT (n.166-12_166-10delinsTGT) | |
14 | g.90404445_90404447delinsTTG | CA2579773217 | CALM1 | c.352_354delinsTTG (p.Thr118Leu) c.244_246delinsTTG (p.Thr82Leu) c.355_357delinsTTG (p.Thr119Leu) c.224_226delinsTTG (p.Asn75_Arg76delinsIleGly) c.245_247delinsTTG (p.Asn82_Arg83delinsIleGly) n.2482_2484delinsTTG n.404_406delinsTTG n.278_280delinsTTG c.166-12_166-10delinsTTG (n.166-12_166-10delinsTTG) | |
14 | g.90404445_90404447delinsTTT | CA2579770806 | CALM1 | c.352_354delinsTTT (p.Thr118Phe) c.244_246delinsTTT (p.Thr82Phe) c.355_357delinsTTT (p.Thr119Phe) c.224_226delinsTTT (p.Asn75IlefsTer2) c.245_247delinsTTT (p.Asn82IlefsTer2) n.2482_2484delinsTTT n.404_406delinsTTT n.278_280delinsTTT c.166-12_166-10delinsTTT (n.166-12_166-10delinsTTT) | |
14 | g.90404446C>A | CA390690253 | CALM1 | c.353C>A (p.Thr118Lys) c.245C>A (p.Thr82Lys) c.356C>A (p.Thr119Lys) c.225C>A (p.Asn75Lys) c.246C>A (p.Asn82Lys) n.2483C>A n.405C>A n.279C>A c.166-11C>A (n.166-11C>A) | |
14 | g.90404446C>G | CA390690251 | CALM1 | c.353C>G (p.Thr118Arg) c.245C>G (p.Thr82Arg) c.356C>G (p.Thr119Arg) c.225C>G (p.Asn75Lys) c.246C>G (p.Asn82Lys) n.2483C>G n.405C>G n.279C>G c.166-11C>G (n.166-11C>G) | |
14 | g.90404446C>T | CA390690252 | CALM1 | c.353C>T (p.Thr118Ile) c.245C>T (p.Thr82Ile) c.356C>T (p.Thr119Ile) c.225C>T (p.Asn75=) c.246C>T (p.Asn82=) n.2483C>T n.405C>T n.279C>T c.166-11C>T (n.166-11C>T) | |
14 | g.90404446_90404447delinsAC | CA2579773871 | CALM1 | c.353_354delinsAC (p.Thr118Asn) c.245_246delinsAC (p.Thr82Asn) c.356_357delinsAC (p.Thr119Asn) c.225_226delinsAC (p.Asn75Lys) c.246_247delinsAC (p.Asn82Lys) n.2483_2484delinsAC n.405_406delinsAC n.279_280delinsAC c.166-11_166-10delinsAC (n.166-11_166-10delinsAC) | |
14 | g.90404446_90404447delinsAG | CA2579773183 | CALM1 | c.353_354delinsAG (p.Thr118Lys) c.245_246delinsAG (p.Thr82Lys) c.356_357delinsAG (p.Thr119Lys) c.225_226delinsAG (p.Asn75_Arg76delinsLysGly) c.246_247delinsAG (p.Asn82_Arg83delinsLysGly) n.2483_2484delinsAG n.405_406delinsAG n.279_280delinsAG c.166-11_166-10delinsAG (n.166-11_166-10delinsAG) | |
14 | g.90404446_90404447delinsAT | CA2579773392 | CALM1 | c.353_354delinsAT (p.Thr118Asn) c.245_246delinsAT (p.Thr82Asn) c.356_357delinsAT (p.Thr119Asn) c.225_226delinsAT (p.Asn75LysfsTer2) c.246_247delinsAT (p.Asn82LysfsTer2) n.2483_2484delinsAT n.405_406delinsAT n.279_280delinsAT c.166-11_166-10delinsAT (n.166-11_166-10delinsAT) | |
14 | g.90404446_90404447delinsGC | CA2579772725 | CALM1 | c.353_354delinsGC (p.Thr118Ser) c.245_246delinsGC (p.Thr82Ser) c.356_357delinsGC (p.Thr119Ser) c.225_226delinsGC (p.Asn75Lys) c.246_247delinsGC (p.Asn82Lys) n.2483_2484delinsGC n.405_406delinsGC n.279_280delinsGC c.166-11_166-10delinsGC (n.166-11_166-10delinsGC) | |
14 | g.90404446_90404447delinsGG | CA2579772729 | CALM1 | c.353_354delinsGG (p.Thr118Arg) c.245_246delinsGG (p.Thr82Arg) c.356_357delinsGG (p.Thr119Arg) c.225_226delinsGG (p.Asn75_Arg76delinsLysGly) c.246_247delinsGG (p.Asn82_Arg83delinsLysGly) n.2483_2484delinsGG n.405_406delinsGG n.279_280delinsGG c.166-11_166-10delinsGG (n.166-11_166-10delinsGG) | |
14 | g.90404446_90404447delinsGT | CA2579770032 | CALM1 | c.353_354delinsGT (p.Thr118Ser) c.245_246delinsGT (p.Thr82Ser) c.356_357delinsGT (p.Thr119Ser) c.225_226delinsGT (p.Asn75LysfsTer2) c.246_247delinsGT (p.Asn82LysfsTer2) n.2483_2484delinsGT n.405_406delinsGT n.279_280delinsGT c.166-11_166-10delinsGT (n.166-11_166-10delinsGT) | |
14 | g.90404446_90404447delinsTG | CA2579774252 | CALM1 | c.353_354delinsTG (p.Thr118Met) c.245_246delinsTG (p.Thr82Met) c.356_357delinsTG (p.Thr119Met) c.225_226delinsTG (p.Arg76Gly) c.246_247delinsTG (p.Arg83Gly) n.2483_2484delinsTG n.405_406delinsTG n.279_280delinsTG c.166-11_166-10delinsTG (n.166-11_166-10delinsTG) | |
14 | g.90404446_90404447delinsTT | CA2579773289 | CALM1 | c.353_354delinsTT (p.Thr118Ile) c.245_246delinsTT (p.Thr82Ile) c.356_357delinsTT (p.Thr119Ile) c.225_226delinsTT (p.Asn76Ter) c.246_247delinsTT (p.Asn83Ter) n.2483_2484delinsTT n.405_406delinsTT n.279_280delinsTT c.166-11_166-10delinsTT (n.166-11_166-10delinsTT) | |
14 | g.90404447A= | CA2154484129 | CALM1 | c.354A= (p.Thr118=) c.246A= (p.Thr82=) c.357A= (p.Thr119=) c.226A= (p.Arg76=) c.247A= (p.Arg83=) n.2484A= n.406A= n.280A= c.166-10A= (n.166-10A=) | |
14 | g.90404447A>C | CA487760251 | CALM1 | c.354A>C (p.Thr118=) c.246A>C (p.Thr82=) c.357A>C (p.Thr119=) c.226A>C (p.Arg76=) c.247A>C (p.Arg83=) n.2484A>C n.406A>C n.280A>C c.166-10A>C (n.166-10A>C) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.90404447A>G | CA487760249 | CALM1 | c.354A>G (p.Thr118=) c.246A>G (p.Thr82=) c.357A>G (p.Thr119=) c.226A>G (p.Arg76Gly) c.247A>G (p.Arg83Gly) n.2484A>G n.406A>G n.280A>G c.166-10A>G (n.166-10A>G) | |
14 | g.90404447A>T | CA487760248 | CALM1 | c.354A>T (p.Thr118=) c.246A>T (p.Thr82=) c.357A>T (p.Thr119=) c.226A>T (p.Arg76Ter) c.247A>T (p.Arg83Ter) n.2484A>T n.406A>T n.280A>T c.166-10A>T (n.166-10A>T) | |
14 | g.90404448G>A | CA390690254 | CALM1 | c.355G>A (p.Asp119Asn) c.247G>A (p.Asp83Asn) c.358G>A (p.Asp120Asn) c.227G>A (p.Arg76Lys) c.248G>A (p.Arg83Lys) n.2485G>A n.407G>A n.281G>A c.166-9G>A (n.166-9G>A) | |
14 | g.90404448G>C | CA390690255 | CALM1 | c.355G>C (p.Asp119His) c.247G>C (p.Asp83His) c.358G>C (p.Asp120His) c.227G>C (p.Arg76Thr) c.248G>C (p.Arg83Thr) n.2485G>C n.407G>C n.281G>C c.166-9G>C (n.166-9G>C) | |
14 | g.90404448G>T | CA390690256 | CALM1 | c.355G>T (p.Asp119Tyr) c.247G>T (p.Asp83Tyr) c.358G>T (p.Asp120Tyr) c.227G>T (p.Arg76Ile) c.248G>T (p.Arg83Ile) n.2485G>T n.407G>T n.281G>T c.166-9G>T (n.166-9G>T) | |
14 | g.90404448_90404449delinsAC | CA2579772929 | CALM1 | c.355_356delinsAC (p.Asp119Thr) c.247_248delinsAC (p.Asp83Thr) c.358_359delinsAC (p.Asp120Thr) c.227_228delinsAC (p.Arg76Asn) c.248_249delinsAC (p.Arg83Asn) n.2485_2486delinsAC n.407_408delinsAC n.281_282delinsAC c.166-9_166-8delinsAC (n.166-9_166-8delinsAC) | |
14 | g.90404448_90404449delinsAG | CA2579770769 | CALM1 | c.355_356delinsAG (p.Asp119Ser) c.247_248delinsAG (p.Asp83Ser) c.358_359delinsAG (p.Asp120Ser) c.227_228delinsAG (p.Arg76Lys) c.248_249delinsAG (p.Arg83Lys) n.2485_2486delinsAG n.407_408delinsAG n.281_282delinsAG c.166-9_166-8delinsAG (n.166-9_166-8delinsAG) | |
14 | g.90404448_90404449delinsAT | CA2579773160 | CALM1 | c.355_356delinsAT (p.Asp119Ile) c.247_248delinsAT (p.Asp83Ile) c.358_359delinsAT (p.Asp120Ile) c.227_228delinsAT (p.Arg76Asn) c.248_249delinsAT (p.Arg83Asn) n.2485_2486delinsAT n.407_408delinsAT n.281_282delinsAT c.166-9_166-8delinsAT (n.166-9_166-8delinsAT) | |
14 | g.90404448_90404449delinsCC | CA2579772679 | CALM1 | c.355_356delinsCC (p.Asp119Pro) c.247_248delinsCC (p.Asp83Pro) c.358_359delinsCC (p.Asp120Pro) c.227_228delinsCC (p.Arg76Thr) c.248_249delinsCC (p.Arg83Thr) n.2485_2486delinsCC n.407_408delinsCC n.281_282delinsCC c.166-9_166-8delinsCC (n.166-9_166-8delinsCC) | |
14 | g.90404448_90404449delinsCG | CA2579774048 | CALM1 | c.355_356delinsCG (p.Asp119Arg) c.247_248delinsCG (p.Asp83Arg) c.358_359delinsCG (p.Asp120Arg) c.227_228delinsCG (p.Arg76Thr) c.248_249delinsCG (p.Arg83Thr) n.2485_2486delinsCG n.407_408delinsCG n.281_282delinsCG c.166-9_166-8delinsCG (n.166-9_166-8delinsCG) | |
14 | g.90404448_90404449delinsCT | CA2579772353 | CALM1 | c.355_356delinsCT (p.Asp119Leu) c.247_248delinsCT (p.Asp83Leu) c.358_359delinsCT (p.Asp120Leu) c.227_228delinsCT (p.Arg76Thr) c.248_249delinsCT (p.Arg83Thr) n.2485_2486delinsCT n.407_408delinsCT n.281_282delinsCT c.166-9_166-8delinsCT (n.166-9_166-8delinsCT) | |
14 | g.90404448_90404449delinsTC | CA2579771807 | CALM1 | c.355_356delinsTC (p.Asp119Ser) c.247_248delinsTC (p.Asp83Ser) c.358_359delinsTC (p.Asp120Ser) c.227_228delinsTC (p.Arg76Ile) c.248_249delinsTC (p.Arg83Ile) n.2485_2486delinsTC n.407_408delinsTC n.281_282delinsTC c.166-9_166-8delinsTC (n.166-9_166-8delinsTC) | |
14 | g.90404448_90404449delinsTG | CA2579773579 | CALM1 | c.355_356delinsTG (p.Asp119Cys) c.247_248delinsTG (p.Asp83Cys) c.358_359delinsTG (p.Asp120Cys) c.227_228delinsTG (p.Arg76Met) c.248_249delinsTG (p.Arg83Met) n.2485_2486delinsTG n.407_408delinsTG n.281_282delinsTG c.166-9_166-8delinsTG (n.166-9_166-8delinsTG) | |
14 | g.90404448_90404449delinsTT | CA2579772395 | CALM1 | c.355_356delinsTT (p.Asp119Phe) c.247_248delinsTT (p.Asp83Phe) c.358_359delinsTT (p.Asp120Phe) c.227_228delinsTT (p.Arg76Ile) c.248_249delinsTT (p.Arg83Ile) n.2485_2486delinsTT n.407_408delinsTT n.281_282delinsTT c.166-9_166-8delinsTT (n.166-9_166-8delinsTT) | |
14 | g.90404448_90404450delinsAAA | CA2579771114 | CALM1 | c.355_357delinsAAA (p.Asp119Lys) c.247_249delinsAAA (p.Asp83Lys) c.358_360delinsAAA (p.Asp120Lys) c.227_229delinsAAA (p.Arg76_Ter77delinsLysArg) c.248_250delinsAAA (p.Arg83_Ter84delinsLysArg) n.2485_2487delinsAAA n.407_409delinsAAA n.281_283delinsAAA c.166-9_166-7delinsAAA (n.166-9_166-7delinsAAA) | |
14 | g.90404448_90404450delinsAAC | CA2579771128 | CALM1 | c.355_357delinsAAC (p.Asp119Asn) c.247_249delinsAAC (p.Asp83Asn) c.358_360delinsAAC (p.Asp120Asn) c.227_229delinsAAC (p.Arg76_Ter77delinsLysArg) c.248_250delinsAAC (p.Arg83_Ter84delinsLysArg) n.2485_2487delinsAAC n.407_409delinsAAC n.281_283delinsAAC c.166-9_166-7delinsAAC (n.166-9_166-7delinsAAC) | |
14 | g.90404448_90404450delinsAAG | CA2579770642 | CALM1 | c.355_357delinsAAG (p.Asp119Lys) c.247_249delinsAAG (p.Asp83Lys) c.358_360delinsAAG (p.Asp120Lys) c.227_229delinsAAG (p.Arg76_Ter77delinsLysGly) c.248_250delinsAAG (p.Arg83_Ter84delinsLysGly) n.2485_2487delinsAAG n.407_409delinsAAG n.281_283delinsAAG c.166-9_166-7delinsAAG (n.166-9_166-7delinsAAG) | |
14 | g.90404448_90404450delinsACA | CA2579773638 | CALM1 | c.355_357delinsACA (p.Asp119Thr) c.247_249delinsACA (p.Asp83Thr) c.358_360delinsACA (p.Asp120Thr) c.227_229delinsACA (p.Arg76_Ter77delinsAsnArg) c.248_250delinsACA (p.Arg83_Ter84delinsAsnArg) n.2485_2487delinsACA n.407_409delinsACA n.281_283delinsACA c.166-9_166-7delinsACA (n.166-9_166-7delinsACA) | |
14 | g.90404448_90404450delinsACG | CA2579772538 | CALM1 | c.355_357delinsACG (p.Asp119Thr) c.247_249delinsACG (p.Asp83Thr) c.358_360delinsACG (p.Asp120Thr) c.227_229delinsACG (p.Arg76_Ter77delinsAsnGly) c.248_250delinsACG (p.Arg83_Ter84delinsAsnGly) n.2485_2487delinsACG n.407_409delinsACG n.281_283delinsACG c.166-9_166-7delinsACG (n.166-9_166-7delinsACG) | |
14 | g.90404448_90404450delinsAGG | CA2579771162 | CALM1 | c.355_357delinsAGG (p.Asp119Arg) c.247_249delinsAGG (p.Asp83Arg) c.358_360delinsAGG (p.Asp120Arg) c.227_229delinsAGG (p.Arg76_Ter77delinsLysGly) c.248_250delinsAGG (p.Arg83_Ter84delinsLysGly) n.2485_2487delinsAGG n.407_409delinsAGG n.281_283delinsAGG c.166-9_166-7delinsAGG (n.166-9_166-7delinsAGG) | |
14 | g.90404448_90404450delinsCAC | CA2579774331 | CALM1 | c.355_357delinsCAC (p.Asp119His) c.247_249delinsCAC (p.Asp83His) c.358_360delinsCAC (p.Asp120His) c.227_229delinsCAC (p.Arg76_Ter77delinsThrArg) c.248_250delinsCAC (p.Arg83_Ter84delinsThrArg) n.2485_2487delinsCAC n.407_409delinsCAC n.281_283delinsCAC c.166-9_166-7delinsCAC (n.166-9_166-7delinsCAC) | |
14 | g.90404448_90404450delinsCAG | CA2579770697 | CALM1 | c.355_357delinsCAG (p.Asp119Gln) c.247_249delinsCAG (p.Asp83Gln) c.358_360delinsCAG (p.Asp120Gln) c.227_229delinsCAG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCAG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCAG n.407_409delinsCAG n.281_283delinsCAG c.166-9_166-7delinsCAG (n.166-9_166-7delinsCAG) | |
14 | g.90404448_90404450delinsCCG | CA2579772104 | CALM1 | c.355_357delinsCCG (p.Asp119Pro) c.247_249delinsCCG (p.Asp83Pro) c.358_360delinsCCG (p.Asp120Pro) c.227_229delinsCCG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCCG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCCG n.407_409delinsCCG n.281_283delinsCCG c.166-9_166-7delinsCCG (n.166-9_166-7delinsCCG) | |
14 | g.90404448_90404450delinsCGG | CA2579772370 | CALM1 | c.355_357delinsCGG (p.Asp119Arg) c.247_249delinsCGG (p.Asp83Arg) c.358_360delinsCGG (p.Asp120Arg) c.227_229delinsCGG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCGG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCGG n.407_409delinsCGG n.281_283delinsCGG c.166-9_166-7delinsCGG (n.166-9_166-7delinsCGG) | |
14 | g.90404448_90404450delinsCTG | CA2579773116 | CALM1 | c.355_357delinsCTG (p.Asp119Leu) c.247_249delinsCTG (p.Asp83Leu) c.358_360delinsCTG (p.Asp120Leu) c.227_229delinsCTG (p.Arg76_Ter77delinsThrGly) c.248_250delinsCTG (p.Arg83_Ter84delinsThrGly) n.2485_2487delinsCTG n.407_409delinsCTG n.281_283delinsCTG c.166-9_166-7delinsCTG (n.166-9_166-7delinsCTG) | |
14 | g.90404448_90404450delinsTAC | CA2579770641 | CALM1 | c.355_357delinsTAC (p.Asp119Tyr) c.247_249delinsTAC (p.Asp83Tyr) c.358_360delinsTAC (p.Asp120Tyr) c.227_229delinsTAC (p.Arg76_Ter77delinsIleArg) c.248_250delinsTAC (p.Arg83_Ter84delinsIleArg) n.2485_2487delinsTAC n.407_409delinsTAC n.281_283delinsTAC c.166-9_166-7delinsTAC (n.166-9_166-7delinsTAC) | |
14 | g.90404448_90404450delinsTAG | CA2579772181 | CALM1 | c.355_357delinsTAG (p.Asp119Ter) c.247_249delinsTAG (p.Asp83Ter) c.358_360delinsTAG (p.Asp120Ter) c.227_229delinsTAG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTAG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTAG n.407_409delinsTAG n.281_283delinsTAG c.166-9_166-7delinsTAG (n.166-9_166-7delinsTAG) | |
14 | g.90404448_90404450delinsTCC | CA2579773147 | CALM1 | c.355_357delinsTCC (p.Asp119Ser) c.247_249delinsTCC (p.Asp83Ser) c.358_360delinsTCC (p.Asp120Ser) c.227_229delinsTCC (p.Arg76_Ter77delinsIleArg) c.248_250delinsTCC (p.Arg83_Ter84delinsIleArg) n.2485_2487delinsTCC n.407_409delinsTCC n.281_283delinsTCC c.166-9_166-7delinsTCC (n.166-9_166-7delinsTCC) | |
14 | g.90404448_90404450delinsTCG | CA2579770561 | CALM1 | c.355_357delinsTCG (p.Asp119Ser) c.247_249delinsTCG (p.Asp83Ser) c.358_360delinsTCG (p.Asp120Ser) c.227_229delinsTCG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTCG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTCG n.407_409delinsTCG n.281_283delinsTCG c.166-9_166-7delinsTCG (n.166-9_166-7delinsTCG) | |
14 | g.90404448_90404450delinsTGG | CA2579772378 | CALM1 | c.355_357delinsTGG (p.Asp119Trp) c.247_249delinsTGG (p.Asp83Trp) c.358_360delinsTGG (p.Asp120Trp) c.227_229delinsTGG (p.Arg76_Ter77delinsMetGly) c.248_250delinsTGG (p.Arg83_Ter84delinsMetGly) n.2485_2487delinsTGG n.407_409delinsTGG n.281_283delinsTGG c.166-9_166-7delinsTGG (n.166-9_166-7delinsTGG) | |
14 | g.90404448_90404450delinsTTG | CA2579773479 | CALM1 | c.355_357delinsTTG (p.Asp119Leu) c.247_249delinsTTG (p.Asp83Leu) c.358_360delinsTTG (p.Asp120Leu) c.227_229delinsTTG (p.Arg76_Ter77delinsIleGly) c.248_250delinsTTG (p.Arg83_Ter84delinsIleGly) n.2485_2487delinsTTG n.407_409delinsTTG n.281_283delinsTTG c.166-9_166-7delinsTTG (n.166-9_166-7delinsTTG) | |
14 | g.90404449A>C | CA390690257 | CALM1 | c.356A>C (p.Asp119Ala) c.248A>C (p.Asp83Ala) c.359A>C (p.Asp120Ala) c.228A>C (p.Arg76Ser) c.249A>C (p.Arg83Ser) n.2486A>C n.408A>C n.282A>C c.166-8A>C (n.166-8A>C) | |
14 | g.90404449A>G | CA390690258 | CALM1 | c.356A>G (p.Asp119Gly) c.248A>G (p.Asp83Gly) c.359A>G (p.Asp120Gly) c.228A>G (p.Arg76=) c.249A>G (p.Arg83=) n.2486A>G n.408A>G n.282A>G c.166-8A>G (n.166-8A>G) | |
14 | g.90404449A>T | CA390690259 | CALM1 | c.356A>T (p.Asp119Val) c.248A>T (p.Asp83Val) c.359A>T (p.Asp120Val) c.228A>T (p.Arg76Ser) c.249A>T (p.Arg83Ser) n.2486A>T n.408A>T n.282A>T c.166-8A>T (n.166-8A>T) | |
14 | g.90404449_90404450delinsCA | CA2579771155 | CALM1 | c.356_357delinsCA (p.Asp119Ala) c.248_249delinsCA (p.Asp83Ala) c.359_360delinsCA (p.Asp120Ala) c.228_229delinsCA (p.Arg76_Ter77delinsSerArg) c.249_250delinsCA (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsCA n.408_409delinsCA n.282_283delinsCA c.166-8_166-7delinsCA (n.166-8_166-7delinsCA) | |
14 | g.90404449_90404450delinsCC | CA2579773064 | CALM1 | c.356_357delinsCC (p.Asp119Ala) c.248_249delinsCC (p.Asp83Ala) c.359_360delinsCC (p.Asp120Ala) c.228_229delinsCC (p.Arg76_Ter77delinsSerArg) c.249_250delinsCC (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsCC n.408_409delinsCC n.282_283delinsCC c.166-8_166-7delinsCC (n.166-8_166-7delinsCC) | |
14 | g.90404449_90404450delinsCG | CA2579773844 | CALM1 | c.356_357delinsCG (p.Asp119Ala) c.248_249delinsCG (p.Asp83Ala) c.359_360delinsCG (p.Asp120Ala) c.228_229delinsCG (p.Arg76_Ter77delinsSerGly) c.249_250delinsCG (p.Arg83_Ter84delinsSerGly) n.2486_2487delinsCG n.408_409delinsCG n.282_283delinsCG c.166-8_166-7delinsCG (n.166-8_166-7delinsCG) | |
14 | g.90404449_90404450delinsGA | CA2579773943 | CALM1 | c.356_357delinsGA (p.Asp119Gly) c.248_249delinsGA (p.Asp83Gly) c.359_360delinsGA (p.Asp120Gly) c.228_229delinsGA (p.Ter77Arg) c.249_250delinsGA (p.Ter84Arg) n.2486_2487delinsGA n.408_409delinsGA n.282_283delinsGA c.166-8_166-7delinsGA (n.166-8_166-7delinsGA) | |
14 | g.90404449_90404450delinsGC | CA2579773022 | CALM1 | c.356_357delinsGC (p.Asp119Gly) c.248_249delinsGC (p.Asp83Gly) c.359_360delinsGC (p.Asp120Gly) c.228_229delinsGC (p.Ter77Arg) c.249_250delinsGC (p.Ter84Arg) n.2486_2487delinsGC n.408_409delinsGC n.282_283delinsGC c.166-8_166-7delinsGC (n.166-8_166-7delinsGC) | |
14 | g.90404449_90404450delinsGG | CA2579772935 | CALM1 | c.356_357delinsGG (p.Asp119Gly) c.248_249delinsGG (p.Asp83Gly) c.359_360delinsGG (p.Asp120Gly) c.228_229delinsGG (p.Ter77Gly) c.249_250delinsGG (p.Ter84Gly) n.2486_2487delinsGG n.408_409delinsGG n.282_283delinsGG c.166-8_166-7delinsGG (n.166-8_166-7delinsGG) | |
14 | g.90404449_90404450delinsTC | CA2579772645 | CALM1 | c.356_357delinsTC (p.Asp119Val) c.248_249delinsTC (p.Asp83Val) c.359_360delinsTC (p.Asp120Val) c.228_229delinsTC (p.Arg76_Ter77delinsSerArg) c.249_250delinsTC (p.Arg83_Ter84delinsSerArg) n.2486_2487delinsTC n.408_409delinsTC n.282_283delinsTC c.166-8_166-7delinsTC (n.166-8_166-7delinsTC) | |
14 | g.90404449_90404450delinsTG | CA2579769859 | CALM1 | c.356_357delinsTG (p.Asp119Val) c.248_249delinsTG (p.Asp83Val) c.359_360delinsTG (p.Asp120Val) c.228_229delinsTG (p.Arg76_Ter77delinsSerGly) c.249_250delinsTG (p.Arg83_Ter84delinsSerGly) n.2486_2487delinsTG n.408_409delinsTG n.282_283delinsTG c.166-8_166-7delinsTG (n.166-8_166-7delinsTG) | |
14 | g.90404450T>A | CA390690260 | CALM1 | c.357T>A (p.Asp119Glu) c.249T>A (p.Asp83Glu) c.360T>A (p.Asp120Glu) c.229T>A (p.Ter77Arg) c.250T>A (p.Ter84Arg) n.2487T>A n.409T>A n.283T>A c.166-7T>A (n.166-7T>A) | |
14 | g.90404450T>C | CA487760260 | CALM1 | c.357T>C (p.Asp119=) c.249T>C (p.Asp83=) c.360T>C (p.Asp120=) c.229T>C (p.Ter77Arg) c.250T>C (p.Ter84Arg) n.2487T>C n.409T>C n.283T>C c.166-7T>C (n.166-7T>C) | |
14 | g.90404450T>G | CA390690261 | CALM1 | c.357T>G (p.Asp119Glu) c.249T>G (p.Asp83Glu) c.360T>G (p.Asp120Glu) c.229T>G (p.Ter77Gly) c.250T>G (p.Ter84Gly) n.2487T>G n.409T>G n.283T>G c.166-7T>G (n.166-7T>G) | |
14 | g.90404450_90404453delinsTGAA | CA2154484132 | CALM1 | c.357_360delinsTGAA (p.Asp119=) c.249_252delinsTGAA (p.Asp83=) c.360_363delinsTGAA (p.Asp120=) c.229_232delinsTGAA (n.[c.229_232delinsTGAA;Ter77=]) c.250_*1delinsTGAA (n.[c.250_*1delinsTGAA;Ter84=]) n.2487_2490delinsTGAA n.409_412delinsTGAA n.283_286delinsTGAA c.166-7_166-4delinsTGAA (n.166-7_166-4delinsTGAA) | |
14 | g.90404451G>A | CA390690262 | CALM1 | c.358G>A (p.Glu120Lys) c.250G>A (p.Glu84Lys) c.361G>A (p.Glu121Lys) c.230G>A (p.Ter77=) c.251G>A (p.Ter84=) n.2488G>A n.410G>A n.284G>A c.166-6G>A (n.166-6G>A) | ClinVar |
14 | g.90404451G>C | CA390690263 | CALM1 | c.358G>C (p.Glu120Gln) c.250G>C (p.Glu84Gln) c.361G>C (p.Glu121Gln) c.230G>C (p.Ter77Ser) c.251G>C (p.Ter84Ser) n.2488G>C n.410G>C n.284G>C c.166-6G>C (n.166-6G>C) | |
14 | g.90404451G>T | CA390690264 | CALM1 | c.358G>T (p.Glu120Ter) c.250G>T (p.Glu84Ter) c.361G>T (p.Glu121Ter) c.230G>T (p.Ter77Leu) c.251G>T (p.Ter84Leu) n.2488G>T n.410G>T n.284G>T c.166-6G>T (n.166-6G>T) | |
14 | g.90404451_90404452delinsAC | CA2579771979 | CALM1 | c.358_359delinsAC (p.Glu120Thr) c.250_251delinsAC (p.Glu84Thr) c.361_362delinsAC (p.Glu121Thr) c.230_231delinsAC (p.Ter77Tyr) c.251_252delinsAC (p.Ter84Tyr) n.2488_2489delinsAC n.410_411delinsAC n.284_285delinsAC c.166-6_166-5delinsAC (n.166-6_166-5delinsAC) | |
14 | g.90404451_90404452delinsAG | CA2579770635 | CALM1 | c.358_359delinsAG (p.Glu120Arg) c.250_251delinsAG (p.Glu84Arg) c.361_362delinsAG (p.Glu121Arg) c.230_231delinsAG (p.Ter77=) c.251_252delinsAG (p.Ter84=) n.2488_2489delinsAG n.410_411delinsAG n.284_285delinsAG c.166-6_166-5delinsAG (n.166-6_166-5delinsAG) | |
14 | g.90404451_90404452delinsAT | CA2579771085 | CALM1 | c.358_359delinsAT (p.Glu120Ile) c.250_251delinsAT (p.Glu84Ile) c.361_362delinsAT (p.Glu121Ile) c.230_231delinsAT (p.Ter77Tyr) c.251_252delinsAT (p.Ter84Tyr) n.2488_2489delinsAT n.410_411delinsAT n.284_285delinsAT c.166-6_166-5delinsAT (n.166-6_166-5delinsAT) | |
14 | g.90404451_90404452delinsCG | CA2579770594 | CALM1 | c.358_359delinsCG (p.Glu120Arg) c.250_251delinsCG (p.Glu84Arg) c.361_362delinsCG (p.Glu121Arg) c.230_231delinsCG (p.Ter77Ser) c.251_252delinsCG (p.Ter84Ser) n.2488_2489delinsCG n.410_411delinsCG n.284_285delinsCG c.166-6_166-5delinsCG (n.166-6_166-5delinsCG) | |
14 | g.90404451_90404452delinsCT | CA2579771302 | CALM1 | c.358_359delinsCT (p.Glu120Leu) c.250_251delinsCT (p.Glu84Leu) c.361_362delinsCT (p.Glu121Leu) c.230_231delinsCT (p.Ter77Ser) c.251_252delinsCT (p.Ter84Ser) n.2488_2489delinsCT n.410_411delinsCT n.284_285delinsCT c.166-6_166-5delinsCT (n.166-6_166-5delinsCT) | |
14 | g.90404451_90404452delinsTC | CA2579771733 | CALM1 | c.358_359delinsTC (p.Glu120Ser) c.250_251delinsTC (p.Glu84Ser) c.361_362delinsTC (p.Glu121Ser) c.230_231delinsTC (p.Ter77Phe) c.251_252delinsTC (p.Ter84Phe) n.2488_2489delinsTC n.410_411delinsTC n.284_285delinsTC c.166-6_166-5delinsTC (n.166-6_166-5delinsTC) | |
14 | g.90404451_90404452delinsTG | CA2579769733 | CALM1 | c.358_359delinsTG (p.Glu120Ter) c.250_251delinsTG (p.Glu84Ter) c.361_362delinsTG (p.Glu121Ter) c.230_231delinsTG (p.Ter77Leu) c.251_252delinsTG (p.Ter84Leu) n.2488_2489delinsTG n.410_411delinsTG n.284_285delinsTG c.166-6_166-5delinsTG (n.166-6_166-5delinsTG) | |
14 | g.90404451_90404452delinsTT | CA2579772327 | CALM1 | c.358_359delinsTT (p.Glu120Leu) c.250_251delinsTT (p.Glu84Leu) c.361_362delinsTT (p.Glu121Leu) c.230_231delinsTT (p.Ter77Phe) c.251_252delinsTT (p.Ter84Phe) n.2488_2489delinsTT n.410_411delinsTT n.284_285delinsTT c.166-6_166-5delinsTT (n.166-6_166-5delinsTT) | |
14 | g.90404451_90404453delinsAAG | CA2579769790 | CALM1 | c.358_360delinsAAG (p.Glu120Lys) c.250_252delinsAAG (p.Glu84Lys) c.361_363delinsAAG (p.Glu121Lys) c.230_232delinsAAG (n.[c.230_232delinsAAG;Ter77=]) c.251_*1delinsAAG (n.[c.251_*1delinsAAG;Ter84=]) n.2488_2490delinsAAG n.410_412delinsAAG n.284_286delinsAAG c.166-6_166-4delinsAAG (n.166-6_166-4delinsAAG) | |
14 | g.90404451_90404453delinsAAT | CA2579769892 | CALM1 | c.358_360delinsAAT (p.Glu120Asn) c.250_252delinsAAT (p.Glu84Asn) c.361_363delinsAAT (p.Glu121Asn) c.230_232delinsAAT (n.[c.230_232delinsAAT;Ter77=]) c.251_*1delinsAAT (n.[c.251_*1delinsAAT;Ter84=]) n.2488_2490delinsAAT n.410_412delinsAAT n.284_286delinsAAT c.166-6_166-4delinsAAT (n.166-6_166-4delinsAAT) | |
14 | g.90404451_90404453delinsACT | CA2579774258 | CALM1 | c.358_360delinsACT (p.Glu120Thr) c.250_252delinsACT (p.Glu84Thr) c.361_363delinsACT (p.Glu121Thr) c.230_232delinsACT (n.[c.230_232delinsACT;Ter77TyrextTer2]) c.251_*1delinsACT (n.[c.251_*1delinsACT;Ter84TyrextTer2]) n.2488_2490delinsACT n.410_412delinsACT n.284_286delinsACT c.166-6_166-4delinsACT (n.166-6_166-4delinsACT) | |
14 | g.90404451_90404453delinsAGG | CA2579774267 | CALM1 | c.358_360delinsAGG (p.Glu120Arg) c.250_252delinsAGG (p.Glu84Arg) c.361_363delinsAGG (p.Glu121Arg) c.230_232delinsAGG (n.[c.230_232delinsAGG;Ter77=]) c.251_*1delinsAGG (n.[c.251_*1delinsAGG;Ter84=]) n.2488_2490delinsAGG n.410_412delinsAGG n.284_286delinsAGG c.166-6_166-4delinsAGG (n.166-6_166-4delinsAGG) | |
14 | g.90404451_90404453delinsAGT | CA2579771892 | CALM1 | c.358_360delinsAGT (p.Glu120Ser) c.250_252delinsAGT (p.Glu84Ser) c.361_363delinsAGT (p.Glu121Ser) c.230_232delinsAGT (n.[c.230_232delinsAGT;Ter77=]) c.251_*1delinsAGT (n.[c.251_*1delinsAGT;Ter84=]) n.2488_2490delinsAGT n.410_412delinsAGT n.284_286delinsAGT c.166-6_166-4delinsAGT (n.166-6_166-4delinsAGT) | |
14 | g.90404451_90404453delinsATG | CA2579771207 | CALM1 | c.358_360delinsATG (p.Glu120Met) c.250_252delinsATG (p.Glu84Met) c.361_363delinsATG (p.Glu121Met) c.230_232delinsATG (n.[c.230_232delinsATG;Ter77TyrextTer5]) c.251_*1delinsATG (n.[c.251_*1delinsATG;Ter84TyrextTer5]) n.2488_2490delinsATG n.410_412delinsATG n.284_286delinsATG c.166-6_166-4delinsATG (n.166-6_166-4delinsATG) | |
14 | g.90404451_90404453delinsATT | CA2579769929 | CALM1 | c.358_360delinsATT (p.Glu120Ile) c.250_252delinsATT (p.Glu84Ile) c.361_363delinsATT (p.Glu121Ile) c.230_232delinsATT (n.[c.230_232delinsATT;Ter77TyrextTer2]) c.251_*1delinsATT (n.[c.251_*1delinsATT;Ter84TyrextTer2]) n.2488_2490delinsATT n.410_412delinsATT n.284_286delinsATT c.166-6_166-4delinsATT (n.166-6_166-4delinsATT) | |
14 | g.90404451_90404453delinsCAG | CA2579772841 | CALM1 | c.358_360delinsCAG (p.Glu120Gln) c.250_252delinsCAG (p.Glu84Gln) c.361_363delinsCAG (p.Glu121Gln) c.230_232delinsCAG (n.[c.230_232delinsCAG;Ter77SerextTer5]) c.251_*1delinsCAG (n.[c.251_*1delinsCAG;Ter84SerextTer5]) n.2488_2490delinsCAG n.410_412delinsCAG n.284_286delinsCAG c.166-6_166-4delinsCAG (n.166-6_166-4delinsCAG) | |
14 | g.90404451_90404453delinsCAT | CA2579774198 | CALM1 | c.358_360delinsCAT (p.Glu120His) c.250_252delinsCAT (p.Glu84His) c.361_363delinsCAT (p.Glu121His) c.230_232delinsCAT (n.[c.230_232delinsCAT;Ter77SerextTer2]) c.251_*1delinsCAT (n.[c.251_*1delinsCAT;Ter84SerextTer2]) n.2488_2490delinsCAT n.410_412delinsCAT n.284_286delinsCAT c.166-6_166-4delinsCAT (n.166-6_166-4delinsCAT) | |
14 | g.90404451_90404453delinsCCG | CA2579772345 | CALM1 | c.358_360delinsCCG (p.Glu120Pro) c.250_252delinsCCG (p.Glu84Pro) c.361_363delinsCCG (p.Glu121Pro) c.230_232delinsCCG (n.[c.230_232delinsCCG;Ter77SerextTer5]) c.251_*1delinsCCG (n.[c.251_*1delinsCCG;Ter84SerextTer5]) n.2488_2490delinsCCG n.410_412delinsCCG n.284_286delinsCCG c.166-6_166-4delinsCCG (n.166-6_166-4delinsCCG) | |
14 | g.90404451_90404453delinsCGG | CA2579771477 | CALM1 | c.358_360delinsCGG (p.Glu120Arg) c.250_252delinsCGG (p.Glu84Arg) c.361_363delinsCGG (p.Glu121Arg) c.230_232delinsCGG (n.[c.230_232delinsCGG;Ter77SerextTer5]) c.251_*1delinsCGG (n.[c.251_*1delinsCGG;Ter84SerextTer5]) n.2488_2490delinsCGG n.410_412delinsCGG n.284_286delinsCGG c.166-6_166-4delinsCGG (n.166-6_166-4delinsCGG) | |
14 | g.90404451_90404453delinsCGT | CA2579772167 | CALM1 | c.358_360delinsCGT (p.Glu120Arg) c.250_252delinsCGT (p.Glu84Arg) c.361_363delinsCGT (p.Glu121Arg) c.230_232delinsCGT (n.[c.230_232delinsCGT;Ter77SerextTer2]) c.251_*1delinsCGT (n.[c.251_*1delinsCGT;Ter84SerextTer2]) n.2488_2490delinsCGT n.410_412delinsCGT n.284_286delinsCGT c.166-6_166-4delinsCGT (n.166-6_166-4delinsCGT) | |
14 | g.90404451_90404453delinsCTG | CA2579774290 | CALM1 | c.358_360delinsCTG (p.Glu120Leu) c.250_252delinsCTG (p.Glu84Leu) c.361_363delinsCTG (p.Glu121Leu) c.230_232delinsCTG (n.[c.230_232delinsCTG;Ter77SerextTer5]) c.251_*1delinsCTG (n.[c.251_*1delinsCTG;Ter84SerextTer5]) n.2488_2490delinsCTG n.410_412delinsCTG n.284_286delinsCTG c.166-6_166-4delinsCTG (n.166-6_166-4delinsCTG) | |
14 | g.90404451_90404453delinsCTT | CA2579773825 | CALM1 | c.358_360delinsCTT (p.Glu120Leu) c.250_252delinsCTT (p.Glu84Leu) c.361_363delinsCTT (p.Glu121Leu) c.230_232delinsCTT (n.[c.230_232delinsCTT;Ter77SerextTer2]) c.251_*1delinsCTT (n.[c.251_*1delinsCTT;Ter84SerextTer2]) n.2488_2490delinsCTT n.410_412delinsCTT n.284_286delinsCTT c.166-6_166-4delinsCTT (n.166-6_166-4delinsCTT) | |
14 | g.90404451_90404453delinsTAG | CA2579772224 | CALM1 | c.358_360delinsTAG (p.Glu120Ter) c.250_252delinsTAG (p.Glu84Ter) c.361_363delinsTAG (p.Glu121Ter) c.230_232delinsTAG (n.[c.230_232delinsTAG;Ter77LeuextTer5]) c.251_*1delinsTAG (n.[c.251_*1delinsTAG;Ter84LeuextTer5]) n.2488_2490delinsTAG n.410_412delinsTAG n.284_286delinsTAG c.166-6_166-4delinsTAG (n.166-6_166-4delinsTAG) | |
14 | g.90404451_90404453delinsTAT | CA2579770469 | CALM1 | c.358_360delinsTAT (p.Glu120Tyr) c.250_252delinsTAT (p.Glu84Tyr) c.361_363delinsTAT (p.Glu121Tyr) c.230_232delinsTAT (n.[c.230_232delinsTAT;Ter77LeuextTer2]) c.251_*1delinsTAT (n.[c.251_*1delinsTAT;Ter84LeuextTer2]) n.2488_2490delinsTAT n.410_412delinsTAT n.284_286delinsTAT c.166-6_166-4delinsTAT (n.166-6_166-4delinsTAT) | |
14 | g.90404451_90404453delinsTCG | CA2579772772 | CALM1 | c.358_360delinsTCG (p.Glu120Ser) c.250_252delinsTCG (p.Glu84Ser) c.361_363delinsTCG (p.Glu121Ser) c.230_232delinsTCG (n.[c.230_232delinsTCG;Ter77PheextTer5]) c.251_*1delinsTCG (n.[c.251_*1delinsTCG;Ter84PheextTer5]) n.2488_2490delinsTCG n.410_412delinsTCG n.284_286delinsTCG c.166-6_166-4delinsTCG (n.166-6_166-4delinsTCG) | |
14 | g.90404451_90404453delinsTCT | CA2579772451 | CALM1 | c.358_360delinsTCT (p.Glu120Ser) c.250_252delinsTCT (p.Glu84Ser) c.361_363delinsTCT (p.Glu121Ser) c.230_232delinsTCT (n.[c.230_232delinsTCT;Ter77PheextTer2]) c.251_*1delinsTCT (n.[c.251_*1delinsTCT;Ter84PheextTer2]) n.2488_2490delinsTCT n.410_412delinsTCT n.284_286delinsTCT c.166-6_166-4delinsTCT (n.166-6_166-4delinsTCT) | |
14 | g.90404451_90404453delinsTGG | CA2579769893 | CALM1 | c.358_360delinsTGG (p.Glu120Trp) c.250_252delinsTGG (p.Glu84Trp) c.361_363delinsTGG (p.Glu121Trp) c.230_232delinsTGG (n.[c.230_232delinsTGG;Ter77LeuextTer5]) c.251_*1delinsTGG (n.[c.251_*1delinsTGG;Ter84LeuextTer5]) n.2488_2490delinsTGG n.410_412delinsTGG n.284_286delinsTGG c.166-6_166-4delinsTGG (n.166-6_166-4delinsTGG) | |
14 | g.90404451_90404453delinsTGT | CA2579770716 | CALM1 | c.358_360delinsTGT (p.Glu120Cys) c.250_252delinsTGT (p.Glu84Cys) c.361_363delinsTGT (p.Glu121Cys) c.230_232delinsTGT (n.[c.230_232delinsTGT;Ter77LeuextTer2]) c.251_*1delinsTGT (n.[c.251_*1delinsTGT;Ter84LeuextTer2]) n.2488_2490delinsTGT n.410_412delinsTGT n.284_286delinsTGT c.166-6_166-4delinsTGT (n.166-6_166-4delinsTGT) | |
14 | g.90404451_90404453delinsTTG | CA2579770165 | CALM1 | c.358_360delinsTTG (p.Glu120Leu) c.250_252delinsTTG (p.Glu84Leu) c.361_363delinsTTG (p.Glu121Leu) c.230_232delinsTTG (n.[c.230_232delinsTTG;Ter77PheextTer5]) c.251_*1delinsTTG (n.[c.251_*1delinsTTG;Ter84PheextTer5]) n.2488_2490delinsTTG n.410_412delinsTTG n.284_286delinsTTG c.166-6_166-4delinsTTG (n.166-6_166-4delinsTTG) | |
14 | g.90404451_90404453delinsTTT | CA2579772456 | CALM1 | c.358_360delinsTTT (p.Glu120Phe) c.250_252delinsTTT (p.Glu84Phe) c.361_363delinsTTT (p.Glu121Phe) c.230_232delinsTTT (n.[c.230_232delinsTTT;Ter77PheextTer2]) c.251_*1delinsTTT (n.[c.251_*1delinsTTT;Ter84PheextTer2]) n.2488_2490delinsTTT n.410_412delinsTTT n.284_286delinsTTT c.166-6_166-4delinsTTT (n.166-6_166-4delinsTTT) | |
14 | g.90404455_90404457del | CA7305800 | CALM1 | c.362_364del (p.Glu121del) c.254_256del (p.Glu85del) c.365_367del (p.Glu122del) c.234_236del (n.234_236del) c.*3_*5del (n.*3_*5del) n.2492_2494del n.414_416del n.288_290del c.166-2_166del | dbSNP ExAC gnomAD v2 |
14 | g.90404452A>C | CA390690266 | CALM1 | c.359A>C (p.Glu120Ala) c.251A>C (p.Glu84Ala) c.362A>C (p.Glu121Ala) c.231A>C (p.Ter77Cys) c.252A>C (p.Ter84Cys) n.2489A>C n.411A>C n.285A>C c.166-5A>C (n.166-5A>C) | |
14 | g.90404452A>G | CA390690267 | CALM1 | c.359A>G (p.Glu120Gly) c.251A>G (p.Glu84Gly) c.362A>G (p.Glu121Gly) c.231A>G (p.Ter77Trp) c.252A>G (p.Ter84Trp) n.2489A>G n.411A>G n.285A>G c.166-5A>G (n.166-5A>G) | |
14 | g.90404452A>T | CA390690265 | CALM1 | c.359A>T (p.Glu120Val) c.251A>T (p.Glu84Val) c.362A>T (p.Glu121Val) c.231A>T (p.Ter77Cys) c.252A>T (p.Ter84Cys) n.2489A>T n.411A>T n.285A>T c.166-5A>T (n.166-5A>T) | |
14 | g.90404452_90404453delinsCG | CA2579772793 | CALM1 | c.359_360delinsCG (p.Glu120Ala) c.251_252delinsCG (p.Glu84Ala) c.362_363delinsCG (p.Glu121Ala) c.231_232delinsCG (n.[c.231_232delinsCG;Ter77CysextTer5]) c.252_*1delinsCG (n.[c.252_*1delinsCG;Ter84CysextTer5]) n.2489_2490delinsCG n.411_412delinsCG n.285_286delinsCG c.166-5_166-4delinsCG (n.166-5_166-4delinsCG) | |
14 | g.90404452_90404453delinsCT | CA2579773199 | CALM1 | c.359_360delinsCT (p.Glu120Ala) c.251_252delinsCT (p.Glu84Ala) c.362_363delinsCT (p.Glu121Ala) c.231_232delinsCT (n.[c.231_232delinsCT;Ter77CysextTer2]) c.252_*1delinsCT (n.[c.252_*1delinsCT;Ter84CysextTer2]) n.2489_2490delinsCT n.411_412delinsCT n.285_286delinsCT c.166-5_166-4delinsCT (n.166-5_166-4delinsCT) | |
14 | g.90404452_90404453delinsGC | CA2579771690 | CALM1 | c.359_360delinsGC (p.Glu120Gly) c.251_252delinsGC (p.Glu84Gly) c.362_363delinsGC (p.Glu121Gly) c.231_232delinsGC (n.[c.231_232delinsGC;Ter77TrpextTer5]) c.252_*1delinsGC (n.[c.252_*1delinsGC;Ter84TrpextTer5]) n.2489_2490delinsGC n.411_412delinsGC n.285_286delinsGC c.166-5_166-4delinsGC (n.166-5_166-4delinsGC) | |
14 | g.90404452_90404453delinsGG | CA2579770967 | CALM1 | c.359_360delinsGG (p.Glu120Gly) c.251_252delinsGG (p.Glu84Gly) c.362_363delinsGG (p.Glu121Gly) c.231_232delinsGG (n.[c.231_232delinsGG;Ter77TrpextTer5]) c.252_*1delinsGG (n.[c.252_*1delinsGG;Ter84TrpextTer5]) n.2489_2490delinsGG n.411_412delinsGG n.285_286delinsGG c.166-5_166-4delinsGG (n.166-5_166-4delinsGG) | |
14 | g.90404452_90404453delinsGT | CA2579769909 | CALM1 | c.359_360delinsGT (p.Glu120Gly) c.251_252delinsGT (p.Glu84Gly) c.362_363delinsGT (p.Glu121Gly) c.231_232delinsGT (n.[c.231_232delinsGT;Ter77TrpextTer2]) c.252_*1delinsGT (n.[c.252_*1delinsGT;Ter84TrpextTer2]) n.2489_2490delinsGT n.411_412delinsGT n.285_286delinsGT c.166-5_166-4delinsGT (n.166-5_166-4delinsGT) | |
14 | g.90404452_90404453delinsTC | CA2579771789 | CALM1 | c.359_360delinsTC (p.Glu120Val) c.251_252delinsTC (p.Glu84Val) c.362_363delinsTC (p.Glu121Val) c.231_232delinsTC (n.[c.231_232delinsTC;Ter77CysextTer5]) c.252_*1delinsTC (n.[c.252_*1delinsTC;Ter84CysextTer5]) n.2489_2490delinsTC n.411_412delinsTC n.285_286delinsTC c.166-5_166-4delinsTC (n.166-5_166-4delinsTC) | |
14 | g.90404452_90404453delinsTG | CA2579771696 | CALM1 | c.359_360delinsTG (p.Glu120Val) c.251_252delinsTG (p.Glu84Val) c.362_363delinsTG (p.Glu121Val) c.231_232delinsTG (n.[c.231_232delinsTG;Ter77CysextTer5]) c.252_*1delinsTG (n.[c.252_*1delinsTG;Ter84CysextTer5]) n.2489_2490delinsTG n.411_412delinsTG n.285_286delinsTG c.166-5_166-4delinsTG (n.166-5_166-4delinsTG) | |
14 | g.90404452_90404453delinsTT | CA2579770573 | CALM1 | c.359_360delinsTT (p.Glu120Val) c.251_252delinsTT (p.Glu84Val) c.362_363delinsTT (p.Glu121Val) c.231_232delinsTT (n.[c.231_232delinsTT;Ter77CysextTer2]) c.252_*1delinsTT (n.[c.252_*1delinsTT;Ter84CysextTer2]) n.2489_2490delinsTT n.411_412delinsTT n.285_286delinsTT c.166-5_166-4delinsTT (n.166-5_166-4delinsTT) | |
14 | g.90404453A>C | CA390690269 | CALM1 | c.360A>C (p.Glu120Asp) c.252A>C (p.Glu84Asp) c.363A>C (p.Glu121Asp) c.232A>C (n.232A>C) c.*1A>C (n.*1A>C) n.2490A>C n.412A>C n.286A>C c.166-4A>C (n.166-4A>C) | |
14 | g.90404453A>G | CA487760273 | CALM1 | c.360A>G (p.Glu120=) c.252A>G (p.Glu84=) c.363A>G (p.Glu121=) c.232A>G (n.232A>G) c.*1A>G (n.*1A>G) n.2490A>G n.412A>G n.286A>G c.166-4A>G (n.166-4A>G) | |
14 | g.90404453A>T | CA390690268 | CALM1 | c.360A>T (p.Glu120Asp) c.252A>T (p.Glu84Asp) c.363A>T (p.Glu121Asp) c.232A>T (n.232A>T) c.*1A>T (n.*1A>T) n.2490A>T n.412A>T n.286A>T c.166-4A>T (n.166-4A>T) | |
14 | g.90404454G>A | CA390690271 | CALM1 | c.361G>A (p.Glu121Lys) c.253G>A (p.Glu85Lys) c.364G>A (p.Glu122Lys) c.233G>A (n.233G>A) c.*2G>A (n.*2G>A) n.2491G>A n.413G>A n.287G>A c.166-3G>A (n.166-3G>A) | |
14 | g.90404454G>C | CA390690270 | CALM1 | c.361G>C (p.Glu121Gln) c.253G>C (p.Glu85Gln) c.364G>C (p.Glu122Gln) c.233G>C (n.233G>C) c.*2G>C (n.*2G>C) n.2491G>C n.413G>C n.287G>C c.166-3G>C (n.166-3G>C) | |
14 | g.90404454G>T | CA390690272 | CALM1 | c.361G>T (p.Glu121Ter) c.253G>T (p.Glu85Ter) c.364G>T (p.Glu122Ter) c.233G>T (n.233G>T) c.*2G>T (n.*2G>T) n.2491G>T n.413G>T n.287G>T c.166-3G>T (n.166-3G>T) | |
14 | g.90404454_90404455delinsAC | CA2579773206 | CALM1 | c.361_362delinsAC (p.Glu121Thr) c.253_254delinsAC (p.Glu85Thr) c.364_365delinsAC (p.Glu122Thr) c.233_234delinsAC (n.233_234delinsAC) c.*2_*3delinsAC (n.*2_*3delinsAC) n.2491_2492delinsAC n.413_414delinsAC n.287_288delinsAC c.166-3_166-2delinsAC (n.166-3_166-2delinsAC) | |
14 | g.90404454_90404455delinsAG | CA2579772406 | CALM1 | c.361_362delinsAG (p.Glu121Arg) c.253_254delinsAG (p.Glu85Arg) c.364_365delinsAG (p.Glu122Arg) c.233_234delinsAG (n.233_234delinsAG) c.*2_*3delinsAG (n.*2_*3delinsAG) n.2491_2492delinsAG n.413_414delinsAG n.287_288delinsAG c.166-3_166-2delinsAG (n.166-3_166-2delinsAG) | |
14 | g.90404454_90404455delinsAT | CA2579772783 | CALM1 | c.361_362delinsAT (p.Glu121Ile) c.253_254delinsAT (p.Glu85Ile) c.364_365delinsAT (p.Glu122Ile) c.233_234delinsAT (n.233_234delinsAT) c.*2_*3delinsAT (n.*2_*3delinsAT) n.2491_2492delinsAT n.413_414delinsAT n.287_288delinsAT c.166-3_166-2delinsAT (n.166-3_166-2delinsAT) | |
14 | g.90404454_90404455delinsCC | CA2579771839 | CALM1 | c.361_362delinsCC (p.Glu121Pro) c.253_254delinsCC (p.Glu85Pro) c.364_365delinsCC (p.Glu122Pro) c.233_234delinsCC (n.233_234delinsCC) c.*2_*3delinsCC (n.*2_*3delinsCC) n.2491_2492delinsCC n.413_414delinsCC n.287_288delinsCC c.166-3_166-2delinsCC (n.166-3_166-2delinsCC) | |
14 | g.90404454_90404455delinsCG | CA2579773776 | CALM1 | c.361_362delinsCG (p.Glu121Arg) c.253_254delinsCG (p.Glu85Arg) c.364_365delinsCG (p.Glu122Arg) c.233_234delinsCG (n.233_234delinsCG) c.*2_*3delinsCG (n.*2_*3delinsCG) n.2491_2492delinsCG n.413_414delinsCG n.287_288delinsCG c.166-3_166-2delinsCG (n.166-3_166-2delinsCG) | |
14 | g.90404454_90404455delinsCT | CA2579772036 | CALM1 | c.361_362delinsCT (p.Glu121Leu) c.253_254delinsCT (p.Glu85Leu) c.364_365delinsCT (p.Glu122Leu) c.233_234delinsCT (n.233_234delinsCT) c.*2_*3delinsCT (n.*2_*3delinsCT) n.2491_2492delinsCT n.413_414delinsCT n.287_288delinsCT c.166-3_166-2delinsCT (n.166-3_166-2delinsCT) | |
14 | g.90404454_90404455delinsTC | CA2579772409 | CALM1 | c.361_362delinsTC (p.Glu121Ser) c.253_254delinsTC (p.Glu85Ser) c.364_365delinsTC (p.Glu122Ser) c.233_234delinsTC (n.233_234delinsTC) c.*2_*3delinsTC (n.*2_*3delinsTC) n.2491_2492delinsTC n.413_414delinsTC n.287_288delinsTC c.166-3_166-2delinsTC (n.166-3_166-2delinsTC) | |
14 | g.90404454_90404455delinsTG | CA2579773574 | CALM1 | c.361_362delinsTG (p.Glu121Ter) c.253_254delinsTG (p.Glu85Ter) c.364_365delinsTG (p.Glu122Ter) c.233_234delinsTG (n.233_234delinsTG) c.*2_*3delinsTG (n.*2_*3delinsTG) n.2491_2492delinsTG n.413_414delinsTG n.287_288delinsTG c.166-3_166-2delinsTG (n.166-3_166-2delinsTG) | |
14 | g.90404454_90404455delinsTT | CA2579772774 | CALM1 | c.361_362delinsTT (p.Glu121Leu) c.253_254delinsTT (p.Glu85Leu) c.364_365delinsTT (p.Glu122Leu) c.233_234delinsTT (n.233_234delinsTT) c.*2_*3delinsTT (n.*2_*3delinsTT) n.2491_2492delinsTT n.413_414delinsTT n.287_288delinsTT c.166-3_166-2delinsTT (n.166-3_166-2delinsTT) | |
14 | g.90404454_90404456delinsAAG | CA2579773857 | CALM1 | c.361_363delinsAAG (p.Glu121Lys) c.253_255delinsAAG (p.Glu85Lys) c.364_366delinsAAG (p.Glu122Lys) c.233_235delinsAAG (n.233_235delinsAAG) c.*2_*4delinsAAG (n.*2_*4delinsAAG) n.2491_2493delinsAAG n.413_415delinsAAG n.287_289delinsAAG c.166-3_166-1delinsAAG (n.166-3_166-1delinsAAG) | |
14 | g.90404454_90404456delinsAAT | CA2579773615 | CALM1 | c.361_363delinsAAT (p.Glu121Asn) c.253_255delinsAAT (p.Glu85Asn) c.364_366delinsAAT (p.Glu122Asn) c.233_235delinsAAT (n.233_235delinsAAT) c.*2_*4delinsAAT (n.*2_*4delinsAAT) n.2491_2493delinsAAT n.413_415delinsAAT n.287_289delinsAAT c.166-3_166-1delinsAAT (n.166-3_166-1delinsAAT) | |
14 | g.90404454_90404456delinsACG | CA2579770171 | CALM1 | c.361_363delinsACG (p.Glu121Thr) c.253_255delinsACG (p.Glu85Thr) c.364_366delinsACG (p.Glu122Thr) c.233_235delinsACG (n.233_235delinsACG) c.*2_*4delinsACG (n.*2_*4delinsACG) n.2491_2493delinsACG n.413_415delinsACG n.287_289delinsACG c.166-3_166-1delinsACG (n.166-3_166-1delinsACG) | |
14 | g.90404454_90404456delinsACT | CA2579769996 | CALM1 | c.361_363delinsACT (p.Glu121Thr) c.253_255delinsACT (p.Glu85Thr) c.364_366delinsACT (p.Glu122Thr) c.233_235delinsACT (n.233_235delinsACT) c.*2_*4delinsACT (n.*2_*4delinsACT) n.2491_2493delinsACT n.413_415delinsACT n.287_289delinsACT c.166-3_166-1delinsACT (n.166-3_166-1delinsACT) | |
14 | g.90404454_90404456delinsAGG | CA2579773841 | CALM1 | c.361_363delinsAGG (p.Glu121Arg) c.253_255delinsAGG (p.Glu85Arg) c.364_366delinsAGG (p.Glu122Arg) c.233_235delinsAGG (n.233_235delinsAGG) c.*2_*4delinsAGG (n.*2_*4delinsAGG) n.2491_2493delinsAGG n.413_415delinsAGG n.287_289delinsAGG c.166-3_166-1delinsAGG (n.166-3_166-1delinsAGG) | |
14 | g.90404454_90404456delinsAGT | CA2579769912 | CALM1 | c.361_363delinsAGT (p.Glu121Ser) c.253_255delinsAGT (p.Glu85Ser) c.364_366delinsAGT (p.Glu122Ser) c.233_235delinsAGT (n.233_235delinsAGT) c.*2_*4delinsAGT (n.*2_*4delinsAGT) n.2491_2493delinsAGT n.413_415delinsAGT n.287_289delinsAGT c.166-3_166-1delinsAGT (n.166-3_166-1delinsAGT) | |
14 | g.90404454_90404456delinsATG | CA2579774019 | CALM1 | c.361_363delinsATG (p.Glu121Met) c.253_255delinsATG (p.Glu85Met) c.364_366delinsATG (p.Glu122Met) c.233_235delinsATG (n.233_235delinsATG) c.*2_*4delinsATG (n.*2_*4delinsATG) n.2491_2493delinsATG n.413_415delinsATG n.287_289delinsATG c.166-3_166-1delinsATG (n.166-3_166-1delinsATG) | |
14 | g.90404454_90404456delinsATT | CA2579772597 | CALM1 | c.361_363delinsATT (p.Glu121Ile) c.253_255delinsATT (p.Glu85Ile) c.364_366delinsATT (p.Glu122Ile) c.233_235delinsATT (n.233_235delinsATT) c.*2_*4delinsATT (n.*2_*4delinsATT) n.2491_2493delinsATT n.413_415delinsATT n.287_289delinsATT c.166-3_166-1delinsATT (n.166-3_166-1delinsATT) | |
14 | g.90404454_90404456delinsCAG | CA2579772341 | CALM1 | c.361_363delinsCAG (p.Glu121Gln) c.253_255delinsCAG (p.Glu85Gln) c.364_366delinsCAG (p.Glu122Gln) c.233_235delinsCAG (n.233_235delinsCAG) c.*2_*4delinsCAG (n.*2_*4delinsCAG) n.2491_2493delinsCAG n.413_415delinsCAG n.287_289delinsCAG c.166-3_166-1delinsCAG (n.166-3_166-1delinsCAG) | |
14 | g.90404454_90404456delinsCAT | CA2579773561 | CALM1 | c.361_363delinsCAT (p.Glu121His) c.253_255delinsCAT (p.Glu85His) c.364_366delinsCAT (p.Glu122His) c.233_235delinsCAT (n.233_235delinsCAT) c.*2_*4delinsCAT (n.*2_*4delinsCAT) n.2491_2493delinsCAT n.413_415delinsCAT n.287_289delinsCAT c.166-3_166-1delinsCAT (n.166-3_166-1delinsCAT) | |
14 | g.90404454_90404456delinsCCG | CA2579770606 | CALM1 | c.361_363delinsCCG (p.Glu121Pro) c.253_255delinsCCG (p.Glu85Pro) c.364_366delinsCCG (p.Glu122Pro) c.233_235delinsCCG (n.233_235delinsCCG) c.*2_*4delinsCCG (n.*2_*4delinsCCG) n.2491_2493delinsCCG n.413_415delinsCCG n.287_289delinsCCG c.166-3_166-1delinsCCG (n.166-3_166-1delinsCCG) | |
14 | g.90404454_90404456delinsCCT | CA2579771343 | CALM1 | c.361_363delinsCCT (p.Glu121Pro) c.253_255delinsCCT (p.Glu85Pro) c.364_366delinsCCT (p.Glu122Pro) c.233_235delinsCCT (n.233_235delinsCCT) c.*2_*4delinsCCT (n.*2_*4delinsCCT) n.2491_2493delinsCCT n.413_415delinsCCT n.287_289delinsCCT c.166-3_166-1delinsCCT (n.166-3_166-1delinsCCT) | |
14 | g.90404454_90404456delinsCGG | CA2579770484 | CALM1 | c.361_363delinsCGG (p.Glu121Arg) c.253_255delinsCGG (p.Glu85Arg) c.364_366delinsCGG (p.Glu122Arg) c.233_235delinsCGG (n.233_235delinsCGG) c.*2_*4delinsCGG (n.*2_*4delinsCGG) n.2491_2493delinsCGG n.413_415delinsCGG n.287_289delinsCGG c.166-3_166-1delinsCGG (n.166-3_166-1delinsCGG) | |
14 | g.90404454_90404456delinsCGT | CA2579773139 | CALM1 | c.361_363delinsCGT (p.Glu121Arg) c.253_255delinsCGT (p.Glu85Arg) c.364_366delinsCGT (p.Glu122Arg) c.233_235delinsCGT (n.233_235delinsCGT) c.*2_*4delinsCGT (n.*2_*4delinsCGT) n.2491_2493delinsCGT n.413_415delinsCGT n.287_289delinsCGT c.166-3_166-1delinsCGT (n.166-3_166-1delinsCGT) | |
14 | g.90404454_90404456delinsCTG | CA2579771249 | CALM1 | c.361_363delinsCTG (p.Glu121Leu) c.253_255delinsCTG (p.Glu85Leu) c.364_366delinsCTG (p.Glu122Leu) c.233_235delinsCTG (n.233_235delinsCTG) c.*2_*4delinsCTG (n.*2_*4delinsCTG) n.2491_2493delinsCTG n.413_415delinsCTG n.287_289delinsCTG c.166-3_166-1delinsCTG (n.166-3_166-1delinsCTG) | |
14 | g.90404454_90404456delinsCTT | CA2579772117 | CALM1 | c.361_363delinsCTT (p.Glu121Leu) c.253_255delinsCTT (p.Glu85Leu) c.364_366delinsCTT (p.Glu122Leu) c.233_235delinsCTT (n.233_235delinsCTT) c.*2_*4delinsCTT (n.*2_*4delinsCTT) n.2491_2493delinsCTT n.413_415delinsCTT n.287_289delinsCTT c.166-3_166-1delinsCTT (n.166-3_166-1delinsCTT) | |
14 | g.90404454_90404456delinsTAG | CA2579771400 | CALM1 | c.361_363delinsTAG (p.Glu121Ter) c.253_255delinsTAG (p.Glu85Ter) c.364_366delinsTAG (p.Glu122Ter) c.233_235delinsTAG (n.233_235delinsTAG) c.*2_*4delinsTAG (n.*2_*4delinsTAG) n.2491_2493delinsTAG n.413_415delinsTAG n.287_289delinsTAG c.166-3_166-1delinsTAG (n.166-3_166-1delinsTAG) | |
14 | g.90404454_90404456delinsTAT | CA2579772526 | CALM1 | c.361_363delinsTAT (p.Glu121Tyr) c.253_255delinsTAT (p.Glu85Tyr) c.364_366delinsTAT (p.Glu122Tyr) c.233_235delinsTAT (n.233_235delinsTAT) c.*2_*4delinsTAT (n.*2_*4delinsTAT) n.2491_2493delinsTAT n.413_415delinsTAT n.287_289delinsTAT c.166-3_166-1delinsTAT (n.166-3_166-1delinsTAT) | |
14 | g.90404454_90404456delinsTCG | CA2579770163 | CALM1 | c.361_363delinsTCG (p.Glu121Ser) c.253_255delinsTCG (p.Glu85Ser) c.364_366delinsTCG (p.Glu122Ser) c.233_235delinsTCG (n.233_235delinsTCG) c.*2_*4delinsTCG (n.*2_*4delinsTCG) n.2491_2493delinsTCG n.413_415delinsTCG n.287_289delinsTCG c.166-3_166-1delinsTCG (n.166-3_166-1delinsTCG) | |
14 | g.90404454_90404456delinsTCT | CA2579771550 | CALM1 | c.361_363delinsTCT (p.Glu121Ser) c.253_255delinsTCT (p.Glu85Ser) c.364_366delinsTCT (p.Glu122Ser) c.233_235delinsTCT (n.233_235delinsTCT) c.*2_*4delinsTCT (n.*2_*4delinsTCT) n.2491_2493delinsTCT n.413_415delinsTCT n.287_289delinsTCT c.166-3_166-1delinsTCT (n.166-3_166-1delinsTCT) | |
14 | g.90404454_90404456delinsTGG | CA2579774143 | CALM1 | c.361_363delinsTGG (p.Glu121Trp) c.253_255delinsTGG (p.Glu85Trp) c.364_366delinsTGG (p.Glu122Trp) c.233_235delinsTGG (n.233_235delinsTGG) c.*2_*4delinsTGG (n.*2_*4delinsTGG) n.2491_2493delinsTGG n.413_415delinsTGG n.287_289delinsTGG c.166-3_166-1delinsTGG (n.166-3_166-1delinsTGG) | |
14 | g.90404454_90404456delinsTGT | CA2579771871 | CALM1 | c.361_363delinsTGT (p.Glu121Cys) c.253_255delinsTGT (p.Glu85Cys) c.364_366delinsTGT (p.Glu122Cys) c.233_235delinsTGT (n.233_235delinsTGT) c.*2_*4delinsTGT (n.*2_*4delinsTGT) n.2491_2493delinsTGT n.413_415delinsTGT n.287_289delinsTGT c.166-3_166-1delinsTGT (n.166-3_166-1delinsTGT) | |
14 | g.90404454_90404456delinsTTG | CA2579771504 | CALM1 | c.361_363delinsTTG (p.Glu121Leu) c.253_255delinsTTG (p.Glu85Leu) c.364_366delinsTTG (p.Glu122Leu) c.233_235delinsTTG (n.233_235delinsTTG) c.*2_*4delinsTTG (n.*2_*4delinsTTG) n.2491_2493delinsTTG n.413_415delinsTTG n.287_289delinsTTG c.166-3_166-1delinsTTG (n.166-3_166-1delinsTTG) | |
14 | g.90404454_90404456delinsTTT | CA2579772853 | CALM1 | c.361_363delinsTTT (p.Glu121Phe) c.253_255delinsTTT (p.Glu85Phe) c.364_366delinsTTT (p.Glu122Phe) c.233_235delinsTTT (n.233_235delinsTTT) c.*2_*4delinsTTT (n.*2_*4delinsTTT) n.2491_2493delinsTTT n.413_415delinsTTT n.287_289delinsTTT c.166-3_166-1delinsTTT (n.166-3_166-1delinsTTT) | |
14 | g.90404455A>C | CA390690273 | CALM1 | c.362A>C (p.Glu121Ala) c.254A>C (p.Glu85Ala) c.365A>C (p.Glu122Ala) c.234A>C (n.234A>C) c.*3A>C (n.*3A>C) n.2492A>C n.414A>C n.288A>C c.166-2A>C (n.166-2A>C) | |
14 | g.90404455A>G | CA390690274 | CALM1 | c.362A>G (p.Glu121Gly) c.254A>G (p.Glu85Gly) c.365A>G (p.Glu122Gly) c.234A>G (n.234A>G) c.*3A>G (n.*3A>G) n.2492A>G n.414A>G n.288A>G c.166-2A>G (n.166-2A>G) | |
14 | g.90404455A>T | CA390690275 | CALM1 | c.362A>T (p.Glu121Val) c.254A>T (p.Glu85Val) c.365A>T (p.Glu122Val) c.234A>T (n.234A>T) c.*3A>T (n.*3A>T) n.2492A>T n.414A>T n.288A>T c.166-2A>T (n.166-2A>T) | |
14 | g.90404455_90404456delinsCG | CA2579771566 | CALM1 | c.362_363delinsCG (p.Glu121Ala) c.254_255delinsCG (p.Glu85Ala) c.365_366delinsCG (p.Glu122Ala) c.234_235delinsCG (n.234_235delinsCG) c.*3_*4delinsCG (n.*3_*4delinsCG) n.2492_2493delinsCG n.414_415delinsCG n.288_289delinsCG c.166-2_166-1delinsCG (n.166-2_166-1delinsCG) | |
14 | g.90404455_90404456delinsCT | CA2579769787 | CALM1 | c.362_363delinsCT (p.Glu121Ala) c.254_255delinsCT (p.Glu85Ala) c.365_366delinsCT (p.Glu122Ala) c.234_235delinsCT (n.234_235delinsCT) c.*3_*4delinsCT (n.*3_*4delinsCT) n.2492_2493delinsCT n.414_415delinsCT n.288_289delinsCT c.166-2_166-1delinsCT (n.166-2_166-1delinsCT) | |
14 | g.90404455_90404456delinsGC | CA2579769867 | CALM1 | c.362_363delinsGC (p.Glu121Gly) c.254_255delinsGC (p.Glu85Gly) c.365_366delinsGC (p.Glu122Gly) c.234_235delinsGC (n.234_235delinsGC) c.*3_*4delinsGC (n.*3_*4delinsGC) n.2492_2493delinsGC n.414_415delinsGC n.288_289delinsGC c.166-2_166-1delinsGC (n.166-2_166-1delinsGC) | |
14 | g.90404455_90404456delinsGG | CA2579771935 | CALM1 | c.362_363delinsGG (p.Glu121Gly) c.254_255delinsGG (p.Glu85Gly) c.365_366delinsGG (p.Glu122Gly) c.234_235delinsGG (n.234_235delinsGG) c.*3_*4delinsGG (n.*3_*4delinsGG) n.2492_2493delinsGG n.414_415delinsGG n.288_289delinsGG c.166-2_166-1delinsGG (n.166-2_166-1delinsGG) | |
14 | g.90404455_90404456delinsGT | CA2579773144 | CALM1 | c.362_363delinsGT (p.Glu121Gly) c.254_255delinsGT (p.Glu85Gly) c.365_366delinsGT (p.Glu122Gly) c.234_235delinsGT (n.234_235delinsGT) c.*3_*4delinsGT (n.*3_*4delinsGT) n.2492_2493delinsGT n.414_415delinsGT n.288_289delinsGT c.166-2_166-1delinsGT (n.166-2_166-1delinsGT) | |
14 | g.90404455_90404456delinsTG | CA2579769807 | CALM1 | c.362_363delinsTG (p.Glu121Val) c.254_255delinsTG (p.Glu85Val) c.365_366delinsTG (p.Glu122Val) c.234_235delinsTG (n.234_235delinsTG) c.*3_*4delinsTG (n.*3_*4delinsTG) n.2492_2493delinsTG n.414_415delinsTG n.288_289delinsTG c.166-2_166-1delinsTG (n.166-2_166-1delinsTG) | |
14 | g.90404455_90404456delinsTT | CA2579772256 | CALM1 | c.362_363delinsTT (p.Glu121Val) c.254_255delinsTT (p.Glu85Val) c.365_366delinsTT (p.Glu122Val) c.234_235delinsTT (n.234_235delinsTT) c.*3_*4delinsTT (n.*3_*4delinsTT) n.2492_2493delinsTT n.414_415delinsTT n.288_289delinsTT c.166-2_166-1delinsTT (n.166-2_166-1delinsTT) | |
14 | g.90404456A>C | CA390690276 | CALM1 | c.363A>C (p.Glu121Asp) c.255A>C (p.Glu85Asp) c.366A>C (p.Glu122Asp) c.235A>C (n.235A>C) c.*4A>C (n.*4A>C) n.2493A>C n.415A>C n.289A>C c.166-1A>C (n.166-1A>C) | |
14 | g.90404456A>G | CA390690277 | CALM1 | c.363A>G (p.Glu121=) c.255A>G (p.Glu85=) c.366A>G (p.Glu122=) c.235A>G (n.235A>G) c.*4A>G (n.*4A>G) n.2493A>G n.415A>G n.289A>G c.166-1A>G (n.166-1A>G) | |
14 | g.90404456A>T | CA390690278 | CALM1 | c.363A>T (p.Glu121Asp) c.255A>T (p.Glu85Asp) c.366A>T (p.Glu122Asp) c.235A>T (n.235A>T) c.*4A>T (n.*4A>T) n.2493A>T n.415A>T n.289A>T c.166-1A>T (n.166-1A>T) | |
14 | g.90404457G>A | CA390690279 | CALM1 | c.364G>A (p.Val122Ile) c.256G>A (p.Val86Ile) c.367G>A (p.Val123Ile) c.236G>A (n.236G>A) c.*5G>A (n.*5G>A) n.2494G>A n.416G>A n.290G>A c.166G>A (p.Val56Ile) | |
14 | g.90404457G>C | CA390690280 | CALM1 | c.364G>C (p.Val122Leu) c.256G>C (p.Val86Leu) c.367G>C (p.Val123Leu) c.236G>C (n.236G>C) c.*5G>C (n.*5G>C) n.2494G>C n.416G>C n.290G>C c.166G>C (p.Val56Leu) | |
14 | g.90404457G>T | CA390690281 | CALM1 | c.364G>T (p.Val122Leu) c.256G>T (p.Val86Leu) c.367G>T (p.Val123Leu) c.236G>T (n.236G>T) c.*5G>T (n.*5G>T) n.2494G>T n.416G>T n.290G>T c.166G>T (p.Val56Leu) | |
14 | g.90404457_90404458delinsAA | CA2579771384 | CALM1 | c.364_365delinsAA (p.Val122Lys) c.256_257delinsAA (p.Val86Lys) c.367_368delinsAA (p.Val123Lys) c.236_237delinsAA (n.236_237delinsAA) c.*5_*6delinsAA (n.*5_*6delinsAA) n.2494_2495delinsAA n.416_417delinsAA n.290_291delinsAA c.166_167delinsAA (p.Val56Lys) | |
14 | g.90404457_90404458delinsAC | CA2579772830 | CALM1 | c.364_365delinsAC (p.Val122Thr) c.256_257delinsAC (p.Val86Thr) c.367_368delinsAC (p.Val123Thr) c.236_237delinsAC (n.236_237delinsAC) c.*5_*6delinsAC (n.*5_*6delinsAC) n.2494_2495delinsAC n.416_417delinsAC n.290_291delinsAC c.166_167delinsAC (p.Val56Thr) | |
14 | g.90404457_90404458delinsAG | CA2579770767 | CALM1 | c.364_365delinsAG (p.Val122Arg) c.256_257delinsAG (p.Val86Arg) c.367_368delinsAG (p.Val123Arg) c.236_237delinsAG (n.236_237delinsAG) c.*5_*6delinsAG (n.*5_*6delinsAG) n.2494_2495delinsAG n.416_417delinsAG n.290_291delinsAG c.166_167delinsAG (p.Val56Arg) | |
14 | g.90404457_90404458delinsCA | CA2579769930 | CALM1 | c.364_365delinsCA (p.Val122Gln) c.256_257delinsCA (p.Val86Gln) c.367_368delinsCA (p.Val123Gln) c.236_237delinsCA (n.236_237delinsCA) c.*5_*6delinsCA (n.*5_*6delinsCA) n.2494_2495delinsCA n.416_417delinsCA n.290_291delinsCA c.166_167delinsCA (p.Val56Gln) | |
14 | g.90404457_90404458delinsCC | CA2579771393 | CALM1 | c.364_365delinsCC (p.Val122Pro) c.256_257delinsCC (p.Val86Pro) c.367_368delinsCC (p.Val123Pro) c.236_237delinsCC (n.236_237delinsCC) c.*5_*6delinsCC (n.*5_*6delinsCC) n.2494_2495delinsCC n.416_417delinsCC n.290_291delinsCC c.166_167delinsCC (p.Val56Pro) | |
14 | g.90404457_90404458delinsCG | CA2579770015 | CALM1 | c.364_365delinsCG (p.Val122Arg) c.256_257delinsCG (p.Val86Arg) c.367_368delinsCG (p.Val123Arg) c.236_237delinsCG (n.236_237delinsCG) c.*5_*6delinsCG (n.*5_*6delinsCG) n.2494_2495delinsCG n.416_417delinsCG n.290_291delinsCG c.166_167delinsCG (p.Val56Arg) | |
14 | g.90404457_90404458delinsTC | CA2579770311 | CALM1 | c.364_365delinsTC (p.Val122Ser) c.256_257delinsTC (p.Val86Ser) c.367_368delinsTC (p.Val123Ser) c.236_237delinsTC (n.236_237delinsTC) c.*5_*6delinsTC (n.*5_*6delinsTC) n.2494_2495delinsTC n.416_417delinsTC n.290_291delinsTC c.166_167delinsTC (p.Val56Ser) | |
14 | g.90404457_90404458delinsTG | CA2579772690 | CALM1 | c.364_365delinsTG (p.Val122Ter) c.256_257delinsTG (p.Val86Ter) c.367_368delinsTG (p.Val123Ter) c.236_237delinsTG (n.236_237delinsTG) c.*5_*6delinsTG (n.*5_*6delinsTG) n.2494_2495delinsTG n.416_417delinsTG n.290_291delinsTG c.166_167delinsTG (p.Val56Ter) | |
14 | g.90404457_90404459delinsAAG | CA2579772829 | CALM1 | c.364_366delinsAAG (p.Val122Lys) c.256_258delinsAAG (p.Val86Lys) c.367_369delinsAAG (p.Val123Lys) c.236_238delinsAAG (n.236_238delinsAAG) c.*5_*7delinsAAG (n.*5_*7delinsAAG) n.2494_2496delinsAAG n.416_418delinsAAG n.290_292delinsAAG c.166_168delinsAAG (p.Val56Lys) | |
14 | g.90404457_90404459delinsAAT | CA2579771544 | CALM1 | c.364_366delinsAAT (p.Val122Asn) c.256_258delinsAAT (p.Val86Asn) c.367_369delinsAAT (p.Val123Asn) c.236_238delinsAAT (n.236_238delinsAAT) c.*5_*7delinsAAT (n.*5_*7delinsAAT) n.2494_2496delinsAAT n.416_418delinsAAT n.290_292delinsAAT c.166_168delinsAAT (p.Val56Asn) | |
14 | g.90404457_90404459delinsACG | CA2579769783 | CALM1 | c.364_366delinsACG (p.Val122Thr) c.256_258delinsACG (p.Val86Thr) c.367_369delinsACG (p.Val123Thr) c.236_238delinsACG (n.236_238delinsACG) c.*5_*7delinsACG (n.*5_*7delinsACG) n.2494_2496delinsACG n.416_418delinsACG n.290_292delinsACG c.166_168delinsACG (p.Val56Thr) | |
14 | g.90404457_90404459delinsACT | CA2579769820 | CALM1 | c.364_366delinsACT (p.Val122Thr) c.256_258delinsACT (p.Val86Thr) c.367_369delinsACT (p.Val123Thr) c.236_238delinsACT (n.236_238delinsACT) c.*5_*7delinsACT (n.*5_*7delinsACT) n.2494_2496delinsACT n.416_418delinsACT n.290_292delinsACT c.166_168delinsACT (p.Val56Thr) | |
14 | g.90404457_90404459delinsAGG | CA2579772301 | CALM1 | c.364_366delinsAGG (p.Val122Arg) c.256_258delinsAGG (p.Val86Arg) c.367_369delinsAGG (p.Val123Arg) c.236_238delinsAGG (n.236_238delinsAGG) c.*5_*7delinsAGG (n.*5_*7delinsAGG) n.2494_2496delinsAGG n.416_418delinsAGG n.290_292delinsAGG c.166_168delinsAGG (p.Val56Arg) | |
14 | g.90404457_90404459delinsATG | CA2579774046 | CALM1 | c.364_366delinsATG (p.Val122Met) c.256_258delinsATG (p.Val86Met) c.367_369delinsATG (p.Val123Met) c.236_238delinsATG (n.236_238delinsATG) c.*5_*7delinsATG (n.*5_*7delinsATG) n.2494_2496delinsATG n.416_418delinsATG n.290_292delinsATG c.166_168delinsATG (p.Val56Met) | |
14 | g.90404457_90404459delinsATT | CA2579771206 | CALM1 | c.364_366delinsATT (p.Val122Ile) c.256_258delinsATT (p.Val86Ile) c.367_369delinsATT (p.Val123Ile) c.236_238delinsATT (n.236_238delinsATT) c.*5_*7delinsATT (n.*5_*7delinsATT) n.2494_2496delinsATT n.416_418delinsATT n.290_292delinsATT c.166_168delinsATT (p.Val56Ile) | |
14 | g.90404457_90404459delinsCAG | CA2579772487 | CALM1 | c.364_366delinsCAG (p.Val122Gln) c.256_258delinsCAG (p.Val86Gln) c.367_369delinsCAG (p.Val123Gln) c.236_238delinsCAG (n.236_238delinsCAG) c.*5_*7delinsCAG (n.*5_*7delinsCAG) n.2494_2496delinsCAG n.416_418delinsCAG n.290_292delinsCAG c.166_168delinsCAG (p.Val56Gln) | |
14 | g.90404457_90404459delinsCAT | CA2579771386 | CALM1 | c.364_366delinsCAT (p.Val122His) c.256_258delinsCAT (p.Val86His) c.367_369delinsCAT (p.Val123His) c.236_238delinsCAT (n.236_238delinsCAT) c.*5_*7delinsCAT (n.*5_*7delinsCAT) n.2494_2496delinsCAT n.416_418delinsCAT n.290_292delinsCAT c.166_168delinsCAT (p.Val56His) | |
14 | g.90404457_90404459delinsCCG | CA2579769775 | CALM1 | c.364_366delinsCCG (p.Val122Pro) c.256_258delinsCCG (p.Val86Pro) c.367_369delinsCCG (p.Val123Pro) c.236_238delinsCCG (n.236_238delinsCCG) c.*5_*7delinsCCG (n.*5_*7delinsCCG) n.2494_2496delinsCCG n.416_418delinsCCG n.290_292delinsCCG c.166_168delinsCCG (p.Val56Pro) | |
14 | g.90404457_90404459delinsCCT | CA2579770432 | CALM1 | c.364_366delinsCCT (p.Val122Pro) c.256_258delinsCCT (p.Val86Pro) c.367_369delinsCCT (p.Val123Pro) c.236_238delinsCCT (n.236_238delinsCCT) c.*5_*7delinsCCT (n.*5_*7delinsCCT) n.2494_2496delinsCCT n.416_418delinsCCT n.290_292delinsCCT c.166_168delinsCCT (p.Val56Pro) | |
14 | g.90404457_90404459delinsCGG | CA2579773507 | CALM1 | c.364_366delinsCGG (p.Val122Arg) c.256_258delinsCGG (p.Val86Arg) c.367_369delinsCGG (p.Val123Arg) c.236_238delinsCGG (n.236_238delinsCGG) c.*5_*7delinsCGG (n.*5_*7delinsCGG) n.2494_2496delinsCGG n.416_418delinsCGG n.290_292delinsCGG c.166_168delinsCGG (p.Val56Arg) | |
14 | g.90404457_90404459delinsCTG | CA2579773639 | CALM1 | c.364_366delinsCTG (p.Val122Leu) c.256_258delinsCTG (p.Val86Leu) c.367_369delinsCTG (p.Val123Leu) c.236_238delinsCTG (n.236_238delinsCTG) c.*5_*7delinsCTG (n.*5_*7delinsCTG) n.2494_2496delinsCTG n.416_418delinsCTG n.290_292delinsCTG c.166_168delinsCTG (p.Val56Leu) | |
14 | g.90404457_90404459delinsCTT | CA2579769780 | CALM1 | c.364_366delinsCTT (p.Val122Leu) c.256_258delinsCTT (p.Val86Leu) c.367_369delinsCTT (p.Val123Leu) c.236_238delinsCTT (n.236_238delinsCTT) c.*5_*7delinsCTT (n.*5_*7delinsCTT) n.2494_2496delinsCTT n.416_418delinsCTT n.290_292delinsCTT c.166_168delinsCTT (p.Val56Leu) | |
14 | g.90404457_90404459delinsTCG | CA2579773780 | CALM1 | c.364_366delinsTCG (p.Val122Ser) c.256_258delinsTCG (p.Val86Ser) c.367_369delinsTCG (p.Val123Ser) c.236_238delinsTCG (n.236_238delinsTCG) c.*5_*7delinsTCG (n.*5_*7delinsTCG) n.2494_2496delinsTCG n.416_418delinsTCG n.290_292delinsTCG c.166_168delinsTCG (p.Val56Ser) | |
14 | g.90404457_90404459delinsTCT | CA2579771055 | CALM1 | c.364_366delinsTCT (p.Val122Ser) c.256_258delinsTCT (p.Val86Ser) c.367_369delinsTCT (p.Val123Ser) c.236_238delinsTCT (n.236_238delinsTCT) c.*5_*7delinsTCT (n.*5_*7delinsTCT) n.2494_2496delinsTCT n.416_418delinsTCT n.290_292delinsTCT c.166_168delinsTCT (p.Val56Ser) | |
14 | g.90404457_90404459delinsTGG | CA2579772048 | CALM1 | c.364_366delinsTGG (p.Val122Trp) c.256_258delinsTGG (p.Val86Trp) c.367_369delinsTGG (p.Val123Trp) c.236_238delinsTGG (n.236_238delinsTGG) c.*5_*7delinsTGG (n.*5_*7delinsTGG) n.2494_2496delinsTGG n.416_418delinsTGG n.290_292delinsTGG c.166_168delinsTGG (p.Val56Trp) | |
14 | g.90404457_90404459delinsTTG | CA2579770426 | CALM1 | c.364_366delinsTTG (p.Val122Leu) c.256_258delinsTTG (p.Val86Leu) c.367_369delinsTTG (p.Val123Leu) c.236_238delinsTTG (n.236_238delinsTTG) c.*5_*7delinsTTG (n.*5_*7delinsTTG) n.2494_2496delinsTTG n.416_418delinsTTG n.290_292delinsTTG c.166_168delinsTTG (p.Val56Leu) | |
14 | g.90404457_90404459delinsTTT | CA2579773478 | CALM1 | c.364_366delinsTTT (p.Val122Phe) c.256_258delinsTTT (p.Val86Phe) c.367_369delinsTTT (p.Val123Phe) c.236_238delinsTTT (n.236_238delinsTTT) c.*5_*7delinsTTT (n.*5_*7delinsTTT) n.2494_2496delinsTTT n.416_418delinsTTT n.290_292delinsTTT c.166_168delinsTTT (p.Val56Phe) | |
14 | g.90404458T>A | CA390690282 | CALM1 | c.365T>A (p.Val122Glu) c.257T>A (p.Val86Glu) c.368T>A (p.Val123Glu) c.237T>A (n.237T>A) c.*6T>A (n.*6T>A) n.2495T>A n.417T>A n.291T>A c.167T>A (p.Val56Glu) | |
14 | g.90404458T>C | CA390690283 | CALM1 | c.365T>C (p.Val122Ala) c.257T>C (p.Val86Ala) c.368T>C (p.Val123Ala) c.237T>C (n.237T>C) c.*6T>C (n.*6T>C) n.2495T>C n.417T>C n.291T>C c.167T>C (p.Val56Ala) | |
14 | g.90404458T>G | CA390690284 | CALM1 | c.365T>G (p.Val122Gly) c.257T>G (p.Val86Gly) c.368T>G (p.Val123Gly) c.237T>G (n.237T>G) c.*6T>G (n.*6T>G) n.2495T>G n.417T>G n.291T>G c.167T>G (p.Val56Gly) | |
14 | g.90404458_90404459delinsAC | CA2579770063 | CALM1 | c.365_366delinsAC (p.Val122Asp) c.257_258delinsAC (p.Val86Asp) c.368_369delinsAC (p.Val123Asp) c.237_238delinsAC (n.237_238delinsAC) c.*6_*7delinsAC (n.*6_*7delinsAC) n.2495_2496delinsAC n.417_418delinsAC n.291_292delinsAC c.167_168delinsAC (p.Val56Asp) | |
14 | g.90404458_90404459delinsAG | CA2579772948 | CALM1 | c.365_366delinsAG (p.Val122Glu) c.257_258delinsAG (p.Val86Glu) c.368_369delinsAG (p.Val123Glu) c.237_238delinsAG (n.237_238delinsAG) c.*6_*7delinsAG (n.*6_*7delinsAG) n.2495_2496delinsAG n.417_418delinsAG n.291_292delinsAG c.167_168delinsAG (p.Val56Glu) | |
14 | g.90404458_90404459delinsAT | CA2579770057 | CALM1 | c.365_366delinsAT (p.Val122Asp) c.257_258delinsAT (p.Val86Asp) c.368_369delinsAT (p.Val123Asp) c.237_238delinsAT (n.237_238delinsAT) c.*6_*7delinsAT (n.*6_*7delinsAT) n.2495_2496delinsAT n.417_418delinsAT n.291_292delinsAT c.167_168delinsAT (p.Val56Asp) | |
14 | g.90404458_90404459delinsCC | CA2579772102 | CALM1 | c.365_366delinsCC (p.Val122Ala) c.257_258delinsCC (p.Val86Ala) c.368_369delinsCC (p.Val123Ala) c.237_238delinsCC (n.237_238delinsCC) c.*6_*7delinsCC (n.*6_*7delinsCC) n.2495_2496delinsCC n.417_418delinsCC n.291_292delinsCC c.167_168delinsCC (p.Val56Ala) | |
14 | g.90404458_90404459delinsCG | CA2579769988 | CALM1 | c.365_366delinsCG (p.Val122Ala) c.257_258delinsCG (p.Val86Ala) c.368_369delinsCG (p.Val123Ala) c.237_238delinsCG (n.237_238delinsCG) c.*6_*7delinsCG (n.*6_*7delinsCG) n.2495_2496delinsCG n.417_418delinsCG n.291_292delinsCG c.167_168delinsCG (p.Val56Ala) | |
14 | g.90404458_90404459delinsCT | CA2579769951 | CALM1 | c.365_366delinsCT (p.Val122Ala) c.257_258delinsCT (p.Val86Ala) c.368_369delinsCT (p.Val123Ala) c.237_238delinsCT (n.237_238delinsCT) c.*6_*7delinsCT (n.*6_*7delinsCT) n.2495_2496delinsCT n.417_418delinsCT n.291_292delinsCT c.167_168delinsCT (p.Val56Ala) | |
14 | g.90404458_90404459delinsGG | CA2579771441 | CALM1 | c.365_366delinsGG (p.Val122Gly) c.257_258delinsGG (p.Val86Gly) c.368_369delinsGG (p.Val123Gly) c.237_238delinsGG (n.237_238delinsGG) c.*6_*7delinsGG (n.*6_*7delinsGG) n.2495_2496delinsGG n.417_418delinsGG n.291_292delinsGG c.167_168delinsGG (p.Val56Gly) | |
14 | g.90404458_90404459delinsGT | CA2579773796 | CALM1 | c.365_366delinsGT (p.Val122Gly) c.257_258delinsGT (p.Val86Gly) c.368_369delinsGT (p.Val123Gly) c.237_238delinsGT (n.237_238delinsGT) c.*6_*7delinsGT (n.*6_*7delinsGT) n.2495_2496delinsGT n.417_418delinsGT n.291_292delinsGT c.167_168delinsGT (p.Val56Gly) | |
14 | g.90404459A= | CA2154484139 | CALM1 | c.366A= (p.Val122=) c.258A= (p.Val86=) c.369A= (p.Val123=) c.238A= (n.238A=) c.*7A= (n.*7A=) n.2496A= n.418A= n.292A= c.168A= (p.Val56=) | |
14 | g.90404459A>C | CA487760294 | CALM1 | c.366A>C (p.Val122=) c.258A>C (p.Val86=) c.369A>C (p.Val123=) c.238A>C (n.238A>C) c.*7A>C (n.*7A>C) n.2496A>C n.418A>C n.292A>C c.168A>C (p.Val56=) | |
14 | g.90404459A>G | CA7305801 | CALM1 | c.366A>G (p.Val122=) c.258A>G (p.Val86=) c.369A>G (p.Val123=) c.238A>G (n.238A>G) c.*7A>G (n.*7A>G) n.2496A>G n.418A>G n.292A>G c.168A>G (p.Val56=) | dbSNP ExAC gnomAD v2 |
14 | g.90404459A>T | CA487760297 | CALM1 | c.366A>T (p.Val122=) c.258A>T (p.Val86=) c.369A>T (p.Val123=) c.238A>T (n.238A>T) c.*7A>T (n.*7A>T) n.2496A>T n.418A>T n.292A>T c.168A>T (p.Val56=) | |
14 | g.90404460G>A | CA390690287 | CALM1 | c.367G>A (p.Asp123Asn) c.259G>A (p.Asp87Asn) c.370G>A (p.Asp124Asn) c.239G>A (n.239G>A) c.*8G>A (n.*8G>A) n.2497G>A n.419G>A n.293G>A c.169G>A (p.Asp57Asn) | |
14 | g.90404460G>C | CA390690286 | CALM1 | c.367G>C (p.Asp123His) c.259G>C (p.Asp87His) c.370G>C (p.Asp124His) c.239G>C (n.239G>C) c.*8G>C (n.*8G>C) n.2497G>C n.419G>C n.293G>C c.169G>C (p.Asp57His) | |
14 | g.90404460G>T | CA390690285 | CALM1 | c.367G>T (p.Asp123Tyr) c.259G>T (p.Asp87Tyr) c.370G>T (p.Asp124Tyr) c.239G>T (n.239G>T) c.*8G>T (n.*8G>T) n.2497G>T n.419G>T n.293G>T c.169G>T (p.Asp57Tyr) | |
14 | g.90404460_90404461delinsAC | CA2579771379 | CALM1 | c.367_368delinsAC (p.Asp123Thr) c.259_260delinsAC (p.Asp87Thr) c.370_371delinsAC (p.Asp124Thr) c.239_240delinsAC (n.239_240delinsAC) c.*8_*9delinsAC (n.*8_*9delinsAC) n.2497_2498delinsAC n.419_420delinsAC n.293_294delinsAC c.169_170delinsAC (p.Asp57Thr) | |
14 | g.90404460_90404461delinsAG | CA2579771923 | CALM1 | c.367_368delinsAG (p.Asp123Ser) c.259_260delinsAG (p.Asp87Ser) c.370_371delinsAG (p.Asp124Ser) c.239_240delinsAG (n.239_240delinsAG) c.*8_*9delinsAG (n.*8_*9delinsAG) n.2497_2498delinsAG n.419_420delinsAG n.293_294delinsAG c.169_170delinsAG (p.Asp57Ser) | |
14 | g.90404460_90404461delinsAT | CA2579773363 | CALM1 | c.367_368delinsAT (p.Asp123Ile) c.259_260delinsAT (p.Asp87Ile) c.370_371delinsAT (p.Asp124Ile) c.239_240delinsAT (n.239_240delinsAT) c.*8_*9delinsAT (n.*8_*9delinsAT) n.2497_2498delinsAT n.419_420delinsAT n.293_294delinsAT c.169_170delinsAT (p.Asp57Ile) | |
14 | g.90404460_90404461delinsCC | CA2579772200 | CALM1 | c.367_368delinsCC (p.Asp123Pro) c.259_260delinsCC (p.Asp87Pro) c.370_371delinsCC (p.Asp124Pro) c.239_240delinsCC (n.239_240delinsCC) c.*8_*9delinsCC (n.*8_*9delinsCC) n.2497_2498delinsCC n.419_420delinsCC n.293_294delinsCC c.169_170delinsCC (p.Asp57Pro) | |
14 | g.90404460_90404461delinsCG | CA2579773898 | CALM1 | c.367_368delinsCG (p.Asp123Arg) c.259_260delinsCG (p.Asp87Arg) c.370_371delinsCG (p.Asp124Arg) c.239_240delinsCG (n.239_240delinsCG) c.*8_*9delinsCG (n.*8_*9delinsCG) n.2497_2498delinsCG n.419_420delinsCG n.293_294delinsCG c.169_170delinsCG (p.Asp57Arg) | |
14 | g.90404460_90404461delinsCT | CA2579773339 | CALM1 | c.367_368delinsCT (p.Asp123Leu) c.259_260delinsCT (p.Asp87Leu) c.370_371delinsCT (p.Asp124Leu) c.239_240delinsCT (n.239_240delinsCT) c.*8_*9delinsCT (n.*8_*9delinsCT) n.2497_2498delinsCT n.419_420delinsCT n.293_294delinsCT c.169_170delinsCT (p.Asp57Leu) | |
14 | g.90404460_90404461delinsTC | CA2579772028 | CALM1 | c.367_368delinsTC (p.Asp123Ser) c.259_260delinsTC (p.Asp87Ser) c.370_371delinsTC (p.Asp124Ser) c.239_240delinsTC (n.239_240delinsTC) c.*8_*9delinsTC (n.*8_*9delinsTC) n.2497_2498delinsTC n.419_420delinsTC n.293_294delinsTC c.169_170delinsTC (p.Asp57Ser) | |
14 | g.90404460_90404461delinsTG | CA2579772950 | CALM1 | c.367_368delinsTG (p.Asp123Cys) c.259_260delinsTG (p.Asp87Cys) c.370_371delinsTG (p.Asp124Cys) c.239_240delinsTG (n.239_240delinsTG) c.*8_*9delinsTG (n.*8_*9delinsTG) n.2497_2498delinsTG n.419_420delinsTG n.293_294delinsTG c.169_170delinsTG (p.Asp57Cys) | |
14 | g.90404460_90404461delinsTT | CA2579772677 | CALM1 | c.367_368delinsTT (p.Asp123Phe) c.259_260delinsTT (p.Asp87Phe) c.370_371delinsTT (p.Asp124Phe) c.239_240delinsTT (n.239_240delinsTT) c.*8_*9delinsTT (n.*8_*9delinsTT) n.2497_2498delinsTT n.419_420delinsTT n.293_294delinsTT c.169_170delinsTT (p.Asp57Phe) | |
14 | g.90404460_90404462delinsAAA | CA2579770462 | CALM1 | c.367_369delinsAAA (p.Asp123Lys) c.259_261delinsAAA (p.Asp87Lys) c.370_372delinsAAA (p.Asp124Lys) c.239_241delinsAAA (n.239_241delinsAAA) c.*8_*10delinsAAA (n.*8_*10delinsAAA) n.2497_2499delinsAAA n.419_421delinsAAA n.293_295delinsAAA c.169_171delinsAAA (p.Asp57Lys) | |
14 | g.90404460_90404462delinsAAC | CA2579773331 | CALM1 | c.367_369delinsAAC (p.Asp123Asn) c.259_261delinsAAC (p.Asp87Asn) c.370_372delinsAAC (p.Asp124Asn) c.239_241delinsAAC (n.239_241delinsAAC) c.*8_*10delinsAAC (n.*8_*10delinsAAC) n.2497_2499delinsAAC n.419_421delinsAAC n.293_295delinsAAC c.169_171delinsAAC (p.Asp57Asn) | |
14 | g.90404460_90404462delinsAAG | CA2579772588 | CALM1 | c.367_369delinsAAG (p.Asp123Lys) c.259_261delinsAAG (p.Asp87Lys) c.370_372delinsAAG (p.Asp124Lys) c.239_241delinsAAG (n.239_241delinsAAG) c.*8_*10delinsAAG (n.*8_*10delinsAAG) n.2497_2499delinsAAG n.419_421delinsAAG n.293_295delinsAAG c.169_171delinsAAG (p.Asp57Lys) | |
14 | g.90404460_90404462delinsACG | CA2579770093 | CALM1 | c.367_369delinsACG (p.Asp123Thr) c.259_261delinsACG (p.Asp87Thr) c.370_372delinsACG (p.Asp124Thr) c.239_241delinsACG (n.239_241delinsACG) c.*8_*10delinsACG (n.*8_*10delinsACG) n.2497_2499delinsACG n.419_421delinsACG n.293_295delinsACG c.169_171delinsACG (p.Asp57Thr) | |
14 | g.90404460_90404462delinsAGC | CA2579770509 | CALM1 | c.367_369delinsAGC (p.Asp123Ser) c.259_261delinsAGC (p.Asp87Ser) c.370_372delinsAGC (p.Asp124Ser) c.239_241delinsAGC (n.239_241delinsAGC) c.*8_*10delinsAGC (n.*8_*10delinsAGC) n.2497_2499delinsAGC n.419_421delinsAGC n.293_295delinsAGC c.169_171delinsAGC (p.Asp57Ser) | |
14 | g.90404460_90404462delinsAGG | CA2579773333 | CALM1 | c.367_369delinsAGG (p.Asp123Arg) c.259_261delinsAGG (p.Asp87Arg) c.370_372delinsAGG (p.Asp124Arg) c.239_241delinsAGG (n.239_241delinsAGG) c.*8_*10delinsAGG (n.*8_*10delinsAGG) n.2497_2499delinsAGG n.419_421delinsAGG n.293_295delinsAGG c.169_171delinsAGG (p.Asp57Arg) | |
14 | g.90404460_90404462delinsCAG | CA2579769766 | CALM1 | c.367_369delinsCAG (p.Asp123Gln) c.259_261delinsCAG (p.Asp87Gln) c.370_372delinsCAG (p.Asp124Gln) c.239_241delinsCAG (n.239_241delinsCAG) c.*8_*10delinsCAG (n.*8_*10delinsCAG) n.2497_2499delinsCAG n.419_421delinsCAG n.293_295delinsCAG c.169_171delinsCAG (p.Asp57Gln) | |
14 | g.90404460_90404462delinsCGG | CA2579770892 | CALM1 | c.367_369delinsCGG (p.Asp123Arg) c.259_261delinsCGG (p.Asp87Arg) c.370_372delinsCGG (p.Asp124Arg) c.239_241delinsCGG (n.239_241delinsCGG) c.*8_*10delinsCGG (n.*8_*10delinsCGG) n.2497_2499delinsCGG n.419_421delinsCGG n.293_295delinsCGG c.169_171delinsCGG (p.Asp57Arg) | |
14 | g.90404460_90404462delinsCTG | CA2579770492 | CALM1 | c.367_369delinsCTG (p.Asp123Leu) c.259_261delinsCTG (p.Asp87Leu) c.370_372delinsCTG (p.Asp124Leu) c.239_241delinsCTG (n.239_241delinsCTG) c.*8_*10delinsCTG (n.*8_*10delinsCTG) n.2497_2499delinsCTG n.419_421delinsCTG n.293_295delinsCTG c.169_171delinsCTG (p.Asp57Leu) | |
14 | g.90404460_90404462delinsTAA | CA2579770844 | CALM1 | c.367_369delinsTAA (p.Asp123Ter) c.259_261delinsTAA (p.Asp87Ter) c.370_372delinsTAA (p.Asp124Ter) c.239_241delinsTAA (n.239_241delinsTAA) c.*8_*10delinsTAA (n.*8_*10delinsTAA) n.2497_2499delinsTAA n.419_421delinsTAA n.293_295delinsTAA c.169_171delinsTAA (p.Asp57Ter) | |
14 | g.90404460_90404462delinsTAC | CA2579772293 | CALM1 | c.367_369delinsTAC (p.Asp123Tyr) c.259_261delinsTAC (p.Asp87Tyr) c.370_372delinsTAC (p.Asp124Tyr) c.239_241delinsTAC (n.239_241delinsTAC) c.*8_*10delinsTAC (n.*8_*10delinsTAC) n.2497_2499delinsTAC n.419_421delinsTAC n.293_295delinsTAC c.169_171delinsTAC (p.Asp57Tyr) | |
14 | g.90404460_90404462delinsTAG | CA2579771044 | CALM1 | c.367_369delinsTAG (p.Asp123Ter) c.259_261delinsTAG (p.Asp87Ter) c.370_372delinsTAG (p.Asp124Ter) c.239_241delinsTAG (n.239_241delinsTAG) c.*8_*10delinsTAG (n.*8_*10delinsTAG) n.2497_2499delinsTAG n.419_421delinsTAG n.293_295delinsTAG c.169_171delinsTAG (p.Asp57Ter) | |
14 | g.90404460_90404462delinsTCG | CA2579771332 | CALM1 | c.367_369delinsTCG (p.Asp123Ser) c.259_261delinsTCG (p.Asp87Ser) c.370_372delinsTCG (p.Asp124Ser) c.239_241delinsTCG (n.239_241delinsTCG) c.*8_*10delinsTCG (n.*8_*10delinsTCG) n.2497_2499delinsTCG n.419_421delinsTCG n.293_295delinsTCG c.169_171delinsTCG (p.Asp57Ser) | |
14 | g.90404460_90404462delinsTGG | CA2579773474 | CALM1 | c.367_369delinsTGG (p.Asp123Trp) c.259_261delinsTGG (p.Asp87Trp) c.370_372delinsTGG (p.Asp124Trp) c.239_241delinsTGG (n.239_241delinsTGG) c.*8_*10delinsTGG (n.*8_*10delinsTGG) n.2497_2499delinsTGG n.419_421delinsTGG n.293_295delinsTGG c.169_171delinsTGG (p.Asp57Trp) | |
14 | g.90404460_90404462delinsTTG | CA2579770820 | CALM1 | c.367_369delinsTTG (p.Asp123Leu) c.259_261delinsTTG (p.Asp87Leu) c.370_372delinsTTG (p.Asp124Leu) c.239_241delinsTTG (n.239_241delinsTTG) c.*8_*10delinsTTG (n.*8_*10delinsTTG) n.2497_2499delinsTTG n.419_421delinsTTG n.293_295delinsTTG c.169_171delinsTTG (p.Asp57Leu) | |
14 | g.90404461A>C | CA390690288 | CALM1 | c.368A>C (p.Asp123Ala) c.260A>C (p.Asp87Ala) c.371A>C (p.Asp124Ala) c.240A>C (n.240A>C) c.*9A>C (n.*9A>C) n.2498A>C n.420A>C n.294A>C c.170A>C (p.Asp57Ala) | |
14 | g.90404461A>G | CA390690289 | CALM1 | c.368A>G (p.Asp123Gly) c.260A>G (p.Asp87Gly) c.371A>G (p.Asp124Gly) c.240A>G (n.240A>G) c.*9A>G (n.*9A>G) n.2498A>G n.420A>G n.294A>G c.170A>G (p.Asp57Gly) | gnomAD v4 |
14 | g.90404461A>T | CA390690290 | CALM1 | c.368A>T (p.Asp123Val) c.260A>T (p.Asp87Val) c.371A>T (p.Asp124Val) c.240A>T (n.240A>T) c.*9A>T (n.*9A>T) n.2498A>T n.420A>T n.294A>T c.170A>T (p.Asp57Val) | |
14 | g.90404461_90404462delinsCA | CA2579770334 | CALM1 | c.368_369delinsCA (p.Asp123Ala) c.260_261delinsCA (p.Asp87Ala) c.371_372delinsCA (p.Asp124Ala) c.240_241delinsCA (n.240_241delinsCA) c.*9_*10delinsCA (n.*9_*10delinsCA) n.2498_2499delinsCA n.420_421delinsCA n.294_295delinsCA c.170_171delinsCA (p.Asp57Ala) | |
14 | g.90404461_90404462delinsCC | CA2579771622 | CALM1 | c.368_369delinsCC (p.Asp123Ala) c.260_261delinsCC (p.Asp87Ala) c.371_372delinsCC (p.Asp124Ala) c.240_241delinsCC (n.240_241delinsCC) c.*9_*10delinsCC (n.*9_*10delinsCC) n.2498_2499delinsCC n.420_421delinsCC n.294_295delinsCC c.170_171delinsCC (p.Asp57Ala) | |
14 | g.90404461_90404462delinsCG | CA2579770515 | CALM1 | c.368_369delinsCG (p.Asp123Ala) c.260_261delinsCG (p.Asp87Ala) c.371_372delinsCG (p.Asp124Ala) c.240_241delinsCG (n.240_241delinsCG) c.*9_*10delinsCG (n.*9_*10delinsCG) n.2498_2499delinsCG n.420_421delinsCG n.294_295delinsCG c.170_171delinsCG (p.Asp57Ala) | |
14 | g.90404461_90404462delinsGA | CA2579771675 | CALM1 | c.368_369delinsGA (p.Asp123Gly) c.260_261delinsGA (p.Asp87Gly) c.371_372delinsGA (p.Asp124Gly) c.240_241delinsGA (n.240_241delinsGA) c.*9_*10delinsGA (n.*9_*10delinsGA) n.2498_2499delinsGA n.420_421delinsGA n.294_295delinsGA c.170_171delinsGA (p.Asp57Gly) | |
14 | g.90404461_90404462delinsGC | CA2579772601 | CALM1 | c.368_369delinsGC (p.Asp123Gly) c.260_261delinsGC (p.Asp87Gly) c.371_372delinsGC (p.Asp124Gly) c.240_241delinsGC (n.240_241delinsGC) c.*9_*10delinsGC (n.*9_*10delinsGC) n.2498_2499delinsGC n.420_421delinsGC n.294_295delinsGC c.170_171delinsGC (p.Asp57Gly) | |
14 | g.90404461_90404462delinsGG | CA2579771919 | CALM1 | c.368_369delinsGG (p.Asp123Gly) c.260_261delinsGG (p.Asp87Gly) c.371_372delinsGG (p.Asp124Gly) c.240_241delinsGG (n.240_241delinsGG) c.*9_*10delinsGG (n.*9_*10delinsGG) n.2498_2499delinsGG n.420_421delinsGG n.294_295delinsGG c.170_171delinsGG (p.Asp57Gly) | |
14 | g.90404461_90404462delinsTA | CA2579771712 | CALM1 | c.368_369delinsTA (p.Asp123Val) c.260_261delinsTA (p.Asp87Val) c.371_372delinsTA (p.Asp124Val) c.240_241delinsTA (n.240_241delinsTA) c.*9_*10delinsTA (n.*9_*10delinsTA) n.2498_2499delinsTA n.420_421delinsTA n.294_295delinsTA c.170_171delinsTA (p.Asp57Val) | |
14 | g.90404461_90404462delinsTC | CA2579772317 | CALM1 | c.368_369delinsTC (p.Asp123Val) c.260_261delinsTC (p.Asp87Val) c.371_372delinsTC (p.Asp124Val) c.240_241delinsTC (n.240_241delinsTC) c.*9_*10delinsTC (n.*9_*10delinsTC) n.2498_2499delinsTC n.420_421delinsTC n.294_295delinsTC c.170_171delinsTC (p.Asp57Val) | |
14 | g.90404461_90404462delinsTG | CA2579773987 | CALM1 | c.368_369delinsTG (p.Asp123Val) c.260_261delinsTG (p.Asp87Val) c.371_372delinsTG (p.Asp124Val) c.240_241delinsTG (n.240_241delinsTG) c.*9_*10delinsTG (n.*9_*10delinsTG) n.2498_2499delinsTG n.420_421delinsTG n.294_295delinsTG c.170_171delinsTG (p.Asp57Val) | |
14 | g.90404462T>A | CA390690291 | CALM1 | c.369T>A (p.Asp123Glu) c.261T>A (p.Asp87Glu) c.372T>A (p.Asp124Glu) c.241T>A (n.241T>A) c.*10T>A (n.*10T>A) n.2499T>A n.421T>A n.295T>A c.171T>A (p.Asp57Glu) | |
14 | g.90404462T>C | CA487760308 | CALM1 | c.369T>C (p.Asp123=) c.261T>C (p.Asp87=) c.372T>C (p.Asp124=) c.241T>C (n.241T>C) c.*10T>C (n.*10T>C) n.2499T>C n.421T>C n.295T>C c.171T>C (p.Asp57=) | dbSNP gnomAD v4 |
14 | g.90404462T>G | CA390690292 | CALM1 | c.369T>G (p.Asp123Glu) c.261T>G (p.Asp87Glu) c.372T>G (p.Asp124Glu) c.241T>G (n.241T>G) c.*10T>G (n.*10T>G) n.2499T>G n.421T>G n.295T>G c.171T>G (p.Asp57Glu) | |
14 | g.90404462T= | CA2154484146 | CALM1 | c.369T= (p.Asp123=) c.261T= (p.Asp87=) c.372T= (p.Asp124=) c.241T= (n.241T=) c.*10T= (n.*10T=) n.2499T= n.421T= n.295T= c.171T= (p.Asp57=) | |
14 | g.90404463G>A | CA390690293 | CALM1 | c.370G>A (p.Glu124Lys) c.262G>A (p.Glu88Lys) c.373G>A (p.Glu125Lys) c.242G>A (n.242G>A) c.*11G>A (n.*11G>A) n.2500G>A n.422G>A n.296G>A c.172G>A (p.Glu58Lys) | |
14 | g.90404463G>C | CA390690294 | CALM1 | c.370G>C (p.Glu124Gln) c.262G>C (p.Glu88Gln) c.373G>C (p.Glu125Gln) c.242G>C (n.242G>C) c.*11G>C (n.*11G>C) n.2500G>C n.422G>C n.296G>C c.172G>C (p.Glu58Gln) | |
14 | g.90404463G>T | CA390690295 | CALM1 | c.370G>T (p.Glu124Ter) c.262G>T (p.Glu88Ter) c.373G>T (p.Glu125Ter) c.242G>T (n.242G>T) c.*11G>T (n.*11G>T) n.2500G>T n.422G>T n.296G>T c.172G>T (p.Glu58Ter) | |
14 | g.90404463_90404464delinsAC | CA2579774284 | CALM1 | c.370_371delinsAC (p.Glu124Thr) c.262_263delinsAC (p.Glu88Thr) c.373_374delinsAC (p.Glu125Thr) c.242_243delinsAC (n.242_243delinsAC) c.*11_*12delinsAC (n.*11_*12delinsAC) n.2500_2501delinsAC n.422_423delinsAC n.296_297delinsAC c.172_173delinsAC (p.Glu58Thr) | |
14 | g.90404463_90404464delinsAG | CA2579770501 | CALM1 | c.370_371delinsAG (p.Glu124Arg) c.262_263delinsAG (p.Glu88Arg) c.373_374delinsAG (p.Glu125Arg) c.242_243delinsAG (n.242_243delinsAG) c.*11_*12delinsAG (n.*11_*12delinsAG) n.2500_2501delinsAG n.422_423delinsAG n.296_297delinsAG c.172_173delinsAG (p.Glu58Arg) | |
14 | g.90404463_90404464delinsAT | CA2579769834 | CALM1 | c.370_371delinsAT (p.Glu124Ile) c.262_263delinsAT (p.Glu88Ile) c.373_374delinsAT (p.Glu125Ile) c.242_243delinsAT (n.242_243delinsAT) c.*11_*12delinsAT (n.*11_*12delinsAT) n.2500_2501delinsAT n.422_423delinsAT n.296_297delinsAT c.172_173delinsAT (p.Glu58Ile) | |
14 | g.90404463_90404464delinsCC | CA2579773415 | CALM1 | c.370_371delinsCC (p.Glu124Pro) c.262_263delinsCC (p.Glu88Pro) c.373_374delinsCC (p.Glu125Pro) c.242_243delinsCC (n.242_243delinsCC) c.*11_*12delinsCC (n.*11_*12delinsCC) n.2500_2501delinsCC n.422_423delinsCC n.296_297delinsCC c.172_173delinsCC (p.Glu58Pro) | |
14 | g.90404463_90404464delinsCG | CA2579772984 | CALM1 | c.370_371delinsCG (p.Glu124Arg) c.262_263delinsCG (p.Glu88Arg) c.373_374delinsCG (p.Glu125Arg) c.242_243delinsCG (n.242_243delinsCG) c.*11_*12delinsCG (n.*11_*12delinsCG) n.2500_2501delinsCG n.422_423delinsCG n.296_297delinsCG c.172_173delinsCG (p.Glu58Arg) | |
14 | g.90404463_90404464delinsCT | CA2579772996 | CALM1 | c.370_371delinsCT (p.Glu124Leu) c.262_263delinsCT (p.Glu88Leu) c.373_374delinsCT (p.Glu125Leu) c.242_243delinsCT (n.242_243delinsCT) c.*11_*12delinsCT (n.*11_*12delinsCT) n.2500_2501delinsCT n.422_423delinsCT n.296_297delinsCT c.172_173delinsCT (p.Glu58Leu) | |
14 | g.90404463_90404464delinsTC | CA2579773464 | CALM1 | c.370_371delinsTC (p.Glu124Ser) c.262_263delinsTC (p.Glu88Ser) c.373_374delinsTC (p.Glu125Ser) c.242_243delinsTC (n.242_243delinsTC) c.*11_*12delinsTC (n.*11_*12delinsTC) n.2500_2501delinsTC n.422_423delinsTC n.296_297delinsTC c.172_173delinsTC (p.Glu58Ser) | |
14 | g.90404463_90404464delinsTG | CA2579770429 | CALM1 | c.370_371delinsTG (p.Glu124Ter) c.262_263delinsTG (p.Glu88Ter) c.373_374delinsTG (p.Glu125Ter) c.242_243delinsTG (n.242_243delinsTG) c.*11_*12delinsTG (n.*11_*12delinsTG) n.2500_2501delinsTG n.422_423delinsTG n.296_297delinsTG c.172_173delinsTG (p.Glu58Ter) | |
14 | g.90404463_90404464delinsTT | CA2579770613 | CALM1 | c.370_371delinsTT (p.Glu124Leu) c.262_263delinsTT (p.Glu88Leu) c.373_374delinsTT (p.Glu125Leu) c.242_243delinsTT (n.242_243delinsTT) c.*11_*12delinsTT (n.*11_*12delinsTT) n.2500_2501delinsTT n.422_423delinsTT n.296_297delinsTT c.172_173delinsTT (p.Glu58Leu) | |
14 | g.90404463_90404465delinsAAG | CA2579774144 | CALM1 | c.370_372delinsAAG (p.Glu124Lys) c.262_264delinsAAG (p.Glu88Lys) c.373_375delinsAAG (p.Glu125Lys) c.242_244delinsAAG (n.242_244delinsAAG) c.*11_*13delinsAAG (n.*11_*13delinsAAG) n.2500_2502delinsAAG n.422_424delinsAAG n.296_298delinsAAG c.172_174delinsAAG (p.Glu58Lys) | |
14 | g.90404463_90404465delinsAAT | CA2579771116 | CALM1 | c.370_372delinsAAT (p.Glu124Asn) c.262_264delinsAAT (p.Glu88Asn) c.373_375delinsAAT (p.Glu125Asn) c.242_244delinsAAT (n.242_244delinsAAT) c.*11_*13delinsAAT (n.*11_*13delinsAAT) n.2500_2502delinsAAT n.422_424delinsAAT n.296_298delinsAAT c.172_174delinsAAT (p.Glu58Asn) | |
14 | g.90404463_90404465delinsACG | CA2579772257 | CALM1 | c.370_372delinsACG (p.Glu124Thr) c.262_264delinsACG (p.Glu88Thr) c.373_375delinsACG (p.Glu125Thr) c.242_244delinsACG (n.242_244delinsACG) c.*11_*13delinsACG (n.*11_*13delinsACG) n.2500_2502delinsACG n.422_424delinsACG n.296_298delinsACG c.172_174delinsACG (p.Glu58Thr) | |
14 | g.90404463_90404465delinsACT | CA2579773705 | CALM1 | c.370_372delinsACT (p.Glu124Thr) c.262_264delinsACT (p.Glu88Thr) c.373_375delinsACT (p.Glu125Thr) c.242_244delinsACT (n.242_244delinsACT) c.*11_*13delinsACT (n.*11_*13delinsACT) n.2500_2502delinsACT n.422_424delinsACT n.296_298delinsACT c.172_174delinsACT (p.Glu58Thr) | |
14 | g.90404463_90404465delinsAGG | CA2579771392 | CALM1 | c.370_372delinsAGG (p.Glu124Arg) c.262_264delinsAGG (p.Glu88Arg) c.373_375delinsAGG (p.Glu125Arg) c.242_244delinsAGG (n.242_244delinsAGG) c.*11_*13delinsAGG (n.*11_*13delinsAGG) n.2500_2502delinsAGG n.422_424delinsAGG n.296_298delinsAGG c.172_174delinsAGG (p.Glu58Arg) | |
14 | g.90404463_90404465delinsATG | CA2579771781 | CALM1 | c.370_372delinsATG (p.Glu124Met) c.262_264delinsATG (p.Glu88Met) c.373_375delinsATG (p.Glu125Met) c.242_244delinsATG (n.242_244delinsATG) c.*11_*13delinsATG (n.*11_*13delinsATG) n.2500_2502delinsATG n.422_424delinsATG n.296_298delinsATG c.172_174delinsATG (p.Glu58Met) | |
14 | g.90404463_90404465delinsATT | CA2579773601 | CALM1 | c.370_372delinsATT (p.Glu124Ile) c.262_264delinsATT (p.Glu88Ile) c.373_375delinsATT (p.Glu125Ile) c.242_244delinsATT (n.242_244delinsATT) c.*11_*13delinsATT (n.*11_*13delinsATT) n.2500_2502delinsATT n.422_424delinsATT n.296_298delinsATT c.172_174delinsATT (p.Glu58Ile) | |
14 | g.90404463_90404465delinsCAG | CA2579772016 | CALM1 | c.370_372delinsCAG (p.Glu124Gln) c.262_264delinsCAG (p.Glu88Gln) c.373_375delinsCAG (p.Glu125Gln) c.242_244delinsCAG (n.242_244delinsCAG) c.*11_*13delinsCAG (n.*11_*13delinsCAG) n.2500_2502delinsCAG n.422_424delinsCAG n.296_298delinsCAG c.172_174delinsCAG (p.Glu58Gln) | |
14 | g.90404463_90404465delinsCAT | CA2579773225 | CALM1 | c.370_372delinsCAT (p.Glu124His) c.262_264delinsCAT (p.Glu88His) c.373_375delinsCAT (p.Glu125His) c.242_244delinsCAT (n.242_244delinsCAT) c.*11_*13delinsCAT (n.*11_*13delinsCAT) n.2500_2502delinsCAT n.422_424delinsCAT n.296_298delinsCAT c.172_174delinsCAT (p.Glu58His) | |
14 | g.90404463_90404465delinsCCT | CA2579770307 | CALM1 | c.370_372delinsCCT (p.Glu124Pro) c.262_264delinsCCT (p.Glu88Pro) c.373_375delinsCCT (p.Glu125Pro) c.242_244delinsCCT (n.242_244delinsCCT) c.*11_*13delinsCCT (n.*11_*13delinsCCT) n.2500_2502delinsCCT n.422_424delinsCCT n.296_298delinsCCT c.172_174delinsCCT (p.Glu58Pro) | |
14 | g.90404463_90404465delinsCGG | CA2579774256 | CALM1 | c.370_372delinsCGG (p.Glu124Arg) c.262_264delinsCGG (p.Glu88Arg) c.373_375delinsCGG (p.Glu125Arg) c.242_244delinsCGG (n.242_244delinsCGG) c.*11_*13delinsCGG (n.*11_*13delinsCGG) n.2500_2502delinsCGG n.422_424delinsCGG n.296_298delinsCGG c.172_174delinsCGG (p.Glu58Arg) | |
14 | g.90404463_90404465delinsCTT | CA2579772128 | CALM1 | c.370_372delinsCTT (p.Glu124Leu) c.262_264delinsCTT (p.Glu88Leu) c.373_375delinsCTT (p.Glu125Leu) c.242_244delinsCTT (n.242_244delinsCTT) c.*11_*13delinsCTT (n.*11_*13delinsCTT) n.2500_2502delinsCTT n.422_424delinsCTT n.296_298delinsCTT c.172_174delinsCTT (p.Glu58Leu) | |
14 | g.90404463_90404465delinsTAC | CA2579771860 | CALM1 | c.370_372delinsTAC (p.Glu124Tyr) c.262_264delinsTAC (p.Glu88Tyr) c.373_375delinsTAC (p.Glu125Tyr) c.242_244delinsTAC (n.242_244delinsTAC) c.*11_*13delinsTAC (n.*11_*13delinsTAC) n.2500_2502delinsTAC n.422_424delinsTAC n.296_298delinsTAC c.172_174delinsTAC (p.Glu58Tyr) | |
14 | g.90404463_90404465delinsTAG | CA2579771802 | CALM1 | c.370_372delinsTAG (p.Glu124Ter) c.262_264delinsTAG (p.Glu88Ter) c.373_375delinsTAG (p.Glu125Ter) c.242_244delinsTAG (n.242_244delinsTAG) c.*11_*13delinsTAG (n.*11_*13delinsTAG) n.2500_2502delinsTAG n.422_424delinsTAG n.296_298delinsTAG c.172_174delinsTAG (p.Glu58Ter) | |
14 | g.90404463_90404465delinsTAT | CA2579771613 | CALM1 | c.370_372delinsTAT (p.Glu124Tyr) c.262_264delinsTAT (p.Glu88Tyr) c.373_375delinsTAT (p.Glu125Tyr) c.242_244delinsTAT (n.242_244delinsTAT) c.*11_*13delinsTAT (n.*11_*13delinsTAT) n.2500_2502delinsTAT n.422_424delinsTAT n.296_298delinsTAT c.172_174delinsTAT (p.Glu58Tyr) | |
14 | g.90404463_90404465delinsTCG | CA2579772889 | CALM1 | c.370_372delinsTCG (p.Glu124Ser) c.262_264delinsTCG (p.Glu88Ser) c.373_375delinsTCG (p.Glu125Ser) c.242_244delinsTCG (n.242_244delinsTCG) c.*11_*13delinsTCG (n.*11_*13delinsTCG) n.2500_2502delinsTCG n.422_424delinsTCG n.296_298delinsTCG c.172_174delinsTCG (p.Glu58Ser) | |
14 | g.90404463_90404465delinsTCT | CA2579773940 | CALM1 | c.370_372delinsTCT (p.Glu124Ser) c.262_264delinsTCT (p.Glu88Ser) c.373_375delinsTCT (p.Glu125Ser) c.242_244delinsTCT (n.242_244delinsTCT) c.*11_*13delinsTCT (n.*11_*13delinsTCT) n.2500_2502delinsTCT n.422_424delinsTCT n.296_298delinsTCT c.172_174delinsTCT (p.Glu58Ser) | |
14 | g.90404463_90404465delinsTGG | CA2579773596 | CALM1 | c.370_372delinsTGG (p.Glu124Trp) c.262_264delinsTGG (p.Glu88Trp) c.373_375delinsTGG (p.Glu125Trp) c.242_244delinsTGG (n.242_244delinsTGG) c.*11_*13delinsTGG (n.*11_*13delinsTGG) n.2500_2502delinsTGG n.422_424delinsTGG n.296_298delinsTGG c.172_174delinsTGG (p.Glu58Trp) | |
14 | g.90404463_90404465delinsTGT | CA2579771959 | CALM1 | c.370_372delinsTGT (p.Glu124Cys) c.262_264delinsTGT (p.Glu88Cys) c.373_375delinsTGT (p.Glu125Cys) c.242_244delinsTGT (n.242_244delinsTGT) c.*11_*13delinsTGT (n.*11_*13delinsTGT) n.2500_2502delinsTGT n.422_424delinsTGT n.296_298delinsTGT c.172_174delinsTGT (p.Glu58Cys) | |
14 | g.90404463_90404465delinsTTG | CA2579772622 | CALM1 | c.370_372delinsTTG (p.Glu124Leu) c.262_264delinsTTG (p.Glu88Leu) c.373_375delinsTTG (p.Glu125Leu) c.242_244delinsTTG (n.242_244delinsTTG) c.*11_*13delinsTTG (n.*11_*13delinsTTG) n.2500_2502delinsTTG n.422_424delinsTTG n.296_298delinsTTG c.172_174delinsTTG (p.Glu58Leu) | |
14 | g.90404463_90404465delinsTTT | CA2579770789 | CALM1 | c.370_372delinsTTT (p.Glu124Phe) c.262_264delinsTTT (p.Glu88Phe) c.373_375delinsTTT (p.Glu125Phe) c.242_244delinsTTT (n.242_244delinsTTT) c.*11_*13delinsTTT (n.*11_*13delinsTTT) n.2500_2502delinsTTT n.422_424delinsTTT n.296_298delinsTTT c.172_174delinsTTT (p.Glu58Phe) | |
14 | g.90404464A>C | CA390690296 | CALM1 | c.371A>C (p.Glu124Ala) c.263A>C (p.Glu88Ala) c.374A>C (p.Glu125Ala) c.243A>C (n.243A>C) c.*12A>C (n.*12A>C) n.2501A>C n.423A>C n.297A>C c.173A>C (p.Glu58Ala) | gnomAD v4 |
14 | g.90404464A>G | CA390690297 | CALM1 | c.371A>G (p.Glu124Gly) c.263A>G (p.Glu88Gly) c.374A>G (p.Glu125Gly) c.243A>G (n.243A>G) c.*12A>G (n.*12A>G) n.2501A>G n.423A>G n.297A>G c.173A>G (p.Glu58Gly) | |
14 | g.90404464A>T | CA390690298 | CALM1 | c.371A>T (p.Glu124Val) c.263A>T (p.Glu88Val) c.374A>T (p.Glu125Val) c.243A>T (n.243A>T) c.*12A>T (n.*12A>T) n.2501A>T n.423A>T n.297A>T c.173A>T (p.Glu58Val) | |
14 | g.90404464_90404465delinsCC | CA2579771901 | CALM1 | c.371_372delinsCC (p.Glu124Ala) c.263_264delinsCC (p.Glu88Ala) c.374_375delinsCC (p.Glu125Ala) c.243_244delinsCC (n.243_244delinsCC) c.*12_*13delinsCC (n.*12_*13delinsCC) n.2501_2502delinsCC n.423_424delinsCC n.297_298delinsCC c.173_174delinsCC (p.Glu58Ala) | |
14 | g.90404464_90404465delinsCG | CA2579773002 | CALM1 | c.371_372delinsCG (p.Glu124Ala) c.263_264delinsCG (p.Glu88Ala) c.374_375delinsCG (p.Glu125Ala) c.243_244delinsCG (n.243_244delinsCG) c.*12_*13delinsCG (n.*12_*13delinsCG) n.2501_2502delinsCG n.423_424delinsCG n.297_298delinsCG c.173_174delinsCG (p.Glu58Ala) | |
14 | g.90404464_90404465delinsCT | CA2579771196 | CALM1 | c.371_372delinsCT (p.Glu124Ala) c.263_264delinsCT (p.Glu88Ala) c.374_375delinsCT (p.Glu125Ala) c.243_244delinsCT (n.243_244delinsCT) c.*12_*13delinsCT (n.*12_*13delinsCT) n.2501_2502delinsCT n.423_424delinsCT n.297_298delinsCT c.173_174delinsCT (p.Glu58Ala) | |
14 | g.90404464_90404465delinsGC | CA2579769947 | CALM1 | c.371_372delinsGC (p.Glu124Gly) c.263_264delinsGC (p.Glu88Gly) c.374_375delinsGC (p.Glu125Gly) c.243_244delinsGC (n.243_244delinsGC) c.*12_*13delinsGC (n.*12_*13delinsGC) n.2501_2502delinsGC n.423_424delinsGC n.297_298delinsGC c.173_174delinsGC (p.Glu58Gly) | |
14 | g.90404464_90404465delinsGG | CA2579771809 | CALM1 | c.371_372delinsGG (p.Glu124Gly) c.263_264delinsGG (p.Glu88Gly) c.374_375delinsGG (p.Glu125Gly) c.243_244delinsGG (n.243_244delinsGG) c.*12_*13delinsGG (n.*12_*13delinsGG) n.2501_2502delinsGG n.423_424delinsGG n.297_298delinsGG c.173_174delinsGG (p.Glu58Gly) | |
14 | g.90404464_90404465delinsGT | CA2579770525 | CALM1 | c.371_372delinsGT (p.Glu124Gly) c.263_264delinsGT (p.Glu88Gly) c.374_375delinsGT (p.Glu125Gly) c.243_244delinsGT (n.243_244delinsGT) c.*12_*13delinsGT (n.*12_*13delinsGT) n.2501_2502delinsGT n.423_424delinsGT n.297_298delinsGT c.173_174delinsGT (p.Glu58Gly) | |
14 | g.90404464_90404465delinsTG | CA2579773755 | CALM1 | c.371_372delinsTG (p.Glu124Val) c.263_264delinsTG (p.Glu88Val) c.374_375delinsTG (p.Glu125Val) c.243_244delinsTG (n.243_244delinsTG) c.*12_*13delinsTG (n.*12_*13delinsTG) n.2501_2502delinsTG n.423_424delinsTG n.297_298delinsTG c.173_174delinsTG (p.Glu58Val) | |
14 | g.90404464_90404465delinsTT | CA2579772745 | CALM1 | c.371_372delinsTT (p.Glu124Val) c.263_264delinsTT (p.Glu88Val) c.374_375delinsTT (p.Glu125Val) c.243_244delinsTT (n.243_244delinsTT) c.*12_*13delinsTT (n.*12_*13delinsTT) n.2501_2502delinsTT n.423_424delinsTT n.297_298delinsTT c.173_174delinsTT (p.Glu58Val) | |
14 | g.90404465A>C | CA390690299 | CALM1 | c.372A>C (p.Glu124Asp) c.264A>C (p.Glu88Asp) c.375A>C (p.Glu125Asp) c.244A>C (n.244A>C) c.*13A>C (n.*13A>C) n.2502A>C n.424A>C n.298A>C c.174A>C (p.Glu58Asp) | |
14 | g.90404465A>G | CA487760318 | CALM1 | c.372A>G (p.Glu124=) c.264A>G (p.Glu88=) c.375A>G (p.Glu125=) c.244A>G (n.244A>G) c.*13A>G (n.*13A>G) n.2502A>G n.424A>G n.298A>G c.174A>G (p.Glu58=) | |
14 | g.90404465A>T | CA390690300 | CALM1 | c.372A>T (p.Glu124Asp) c.264A>T (p.Glu88Asp) c.375A>T (p.Glu125Asp) c.244A>T (n.244A>T) c.*13A>T (n.*13A>T) n.2502A>T n.424A>T n.298A>T c.174A>T (p.Glu58Asp) | |
14 | g.90404466A>C | CA390690302 | CALM1 | c.373A>C (p.Met125Leu) c.265A>C (p.Met89Leu) c.376A>C (p.Met126Leu) c.245A>C (n.245A>C) c.*14A>C (n.*14A>C) n.2503A>C n.425A>C n.299A>C c.175A>C (p.Met59Leu) | |
14 | g.90404466A>G | CA390690303 | CALM1 | c.373A>G (p.Met125Val) c.265A>G (p.Met89Val) c.376A>G (p.Met126Val) c.245A>G (n.245A>G) c.*14A>G (n.*14A>G) n.2503A>G n.425A>G n.299A>G c.175A>G (p.Met59Val) | |
14 | g.90404466A>T | CA390690301 | CALM1 | c.373A>T (p.Met125Leu) c.265A>T (p.Met89Leu) c.376A>T (p.Met126Leu) c.245A>T (n.245A>T) c.*14A>T (n.*14A>T) n.2503A>T n.425A>T n.299A>T c.175A>T (p.Met59Leu) | |
14 | g.90404466_90404467delinsCA | CA2579770952 | CALM1 | c.373_374delinsCA (p.Met125Gln) c.265_266delinsCA (p.Met89Gln) c.376_377delinsCA (p.Met126Gln) c.245_246delinsCA (n.245_246delinsCA) c.*14_*15delinsCA (n.*14_*15delinsCA) n.2503_2504delinsCA n.425_426delinsCA n.299_300delinsCA c.175_176delinsCA (p.Met59Gln) | |
14 | g.90404466_90404467delinsCC | CA2579772100 | CALM1 | c.373_374delinsCC (p.Met125Pro) c.265_266delinsCC (p.Met89Pro) c.376_377delinsCC (p.Met126Pro) c.245_246delinsCC (n.245_246delinsCC) c.*14_*15delinsCC (n.*14_*15delinsCC) n.2503_2504delinsCC n.425_426delinsCC n.299_300delinsCC c.175_176delinsCC (p.Met59Pro) | |
14 | g.90404466_90404467delinsCG | CA2579771090 | CALM1 | c.373_374delinsCG (p.Met125Arg) c.265_266delinsCG (p.Met89Arg) c.376_377delinsCG (p.Met126Arg) c.245_246delinsCG (n.245_246delinsCG) c.*14_*15delinsCG (n.*14_*15delinsCG) n.2503_2504delinsCG n.425_426delinsCG n.299_300delinsCG c.175_176delinsCG (p.Met59Arg) | |
14 | g.90404466_90404467delinsGA | CA2579771491 | CALM1 | c.373_374delinsGA (p.Met125Glu) c.265_266delinsGA (p.Met89Glu) c.376_377delinsGA (p.Met126Glu) c.245_246delinsGA (n.245_246delinsGA) c.*14_*15delinsGA (n.*14_*15delinsGA) n.2503_2504delinsGA n.425_426delinsGA n.299_300delinsGA c.175_176delinsGA (p.Met59Glu) | |
14 | g.90404466_90404467delinsGC | CA2579769982 | CALM1 | c.373_374delinsGC (p.Met125Ala) c.265_266delinsGC (p.Met89Ala) c.376_377delinsGC (p.Met126Ala) c.245_246delinsGC (n.245_246delinsGC) c.*14_*15delinsGC (n.*14_*15delinsGC) n.2503_2504delinsGC n.425_426delinsGC n.299_300delinsGC c.175_176delinsGC (p.Met59Ala) | |
14 | g.90404466_90404467delinsGG | CA2579771054 | CALM1 | c.373_374delinsGG (p.Met125Gly) c.265_266delinsGG (p.Met89Gly) c.376_377delinsGG (p.Met126Gly) c.245_246delinsGG (n.245_246delinsGG) c.*14_*15delinsGG (n.*14_*15delinsGG) n.2503_2504delinsGG n.425_426delinsGG n.299_300delinsGG c.175_176delinsGG (p.Met59Gly) | |
14 | g.90404466_90404467delinsTA | CA2579771880 | CALM1 | c.373_374delinsTA (p.Met125Ter) c.265_266delinsTA (p.Met89Ter) c.376_377delinsTA (p.Met126Ter) c.245_246delinsTA (n.245_246delinsTA) c.*14_*15delinsTA (n.*14_*15delinsTA) n.2503_2504delinsTA n.425_426delinsTA n.299_300delinsTA c.175_176delinsTA (p.Met59Ter) | |
14 | g.90404466_90404467delinsTC | CA2579771790 | CALM1 | c.373_374delinsTC (p.Met125Ser) c.265_266delinsTC (p.Met89Ser) c.376_377delinsTC (p.Met126Ser) c.245_246delinsTC (n.245_246delinsTC) c.*14_*15delinsTC (n.*14_*15delinsTC) n.2503_2504delinsTC n.425_426delinsTC n.299_300delinsTC c.175_176delinsTC (p.Met59Ser) | |
14 | g.90404466_90404467delinsTG | CA2579773292 | CALM1 | c.373_374delinsTG (p.Met125Trp) c.265_266delinsTG (p.Met89Trp) c.376_377delinsTG (p.Met126Trp) c.245_246delinsTG (n.245_246delinsTG) c.*14_*15delinsTG (n.*14_*15delinsTG) n.2503_2504delinsTG n.425_426delinsTG n.299_300delinsTG c.175_176delinsTG (p.Met59Trp) | |
14 | g.90404466_90404468delinsCCC | CA2579770877 | CALM1 | c.373_375delinsCCC (p.Met125Pro) c.265_267delinsCCC (p.Met89Pro) c.376_378delinsCCC (p.Met126Pro) c.245_247delinsCCC (n.245_247delinsCCC) c.*14_*16delinsCCC (n.*14_*16delinsCCC) n.2503_2505delinsCCC n.425_427delinsCCC n.299_301delinsCCC c.175_177delinsCCC (p.Met59Pro) | |
14 | g.90404466_90404468delinsCCT | CA2579771967 | CALM1 | c.373_375delinsCCT (p.Met125Pro) c.265_267delinsCCT (p.Met89Pro) c.376_378delinsCCT (p.Met126Pro) c.245_247delinsCCT (n.245_247delinsCCT) c.*14_*16delinsCCT (n.*14_*16delinsCCT) n.2503_2505delinsCCT n.425_427delinsCCT n.299_301delinsCCT c.175_177delinsCCT (p.Met59Pro) | |
14 | g.90404466_90404468delinsCGT | CA2579772288 | CALM1 | c.373_375delinsCGT (p.Met125Arg) c.265_267delinsCGT (p.Met89Arg) c.376_378delinsCGT (p.Met126Arg) c.245_247delinsCGT (n.245_247delinsCGT) c.*14_*16delinsCGT (n.*14_*16delinsCGT) n.2503_2505delinsCGT n.425_427delinsCGT n.299_301delinsCGT c.175_177delinsCGT (p.Met59Arg) | |
14 | g.90404466_90404468delinsCTC | CA2579773926 | CALM1 | c.373_375delinsCTC (p.Met125Leu) c.265_267delinsCTC (p.Met89Leu) c.376_378delinsCTC (p.Met126Leu) c.245_247delinsCTC (n.245_247delinsCTC) c.*14_*16delinsCTC (n.*14_*16delinsCTC) n.2503_2505delinsCTC n.425_427delinsCTC n.299_301delinsCTC c.175_177delinsCTC (p.Met59Leu) | |
14 | g.90404466_90404468delinsCTT | CA2579771644 | CALM1 | c.373_375delinsCTT (p.Met125Leu) c.265_267delinsCTT (p.Met89Leu) c.376_378delinsCTT (p.Met126Leu) c.245_247delinsCTT (n.245_247delinsCTT) c.*14_*16delinsCTT (n.*14_*16delinsCTT) n.2503_2505delinsCTT n.425_427delinsCTT n.299_301delinsCTT c.175_177delinsCTT (p.Met59Leu) | |
14 | g.90404466_90404468delinsGCT | CA2579770146 | CALM1 | c.373_375delinsGCT (p.Met125Ala) c.265_267delinsGCT (p.Met89Ala) c.376_378delinsGCT (p.Met126Ala) c.245_247delinsGCT (n.245_247delinsGCT) c.*14_*16delinsGCT (n.*14_*16delinsGCT) n.2503_2505delinsGCT n.425_427delinsGCT n.299_301delinsGCT c.175_177delinsGCT (p.Met59Ala) | |
14 | g.90404466_90404468delinsGGT | CA2579773919 | CALM1 | c.373_375delinsGGT (p.Met125Gly) c.265_267delinsGGT (p.Met89Gly) c.376_378delinsGGT (p.Met126Gly) c.245_247delinsGGT (n.245_247delinsGGT) c.*14_*16delinsGGT (n.*14_*16delinsGGT) n.2503_2505delinsGGT n.425_427delinsGGT n.299_301delinsGGT c.175_177delinsGGT (p.Met59Gly) | |
14 | g.90404466_90404468delinsGTA | CA2579769744 | CALM1 | c.373_375delinsGTA (p.Met125Val) c.265_267delinsGTA (p.Met89Val) c.376_378delinsGTA (p.Met126Val) c.245_247delinsGTA (n.245_247delinsGTA) c.*14_*16delinsGTA (n.*14_*16delinsGTA) n.2503_2505delinsGTA n.425_427delinsGTA n.299_301delinsGTA c.175_177delinsGTA (p.Met59Val) | |
14 | g.90404466_90404468delinsGTT | CA2579773738 | CALM1 | c.373_375delinsGTT (p.Met125Val) c.265_267delinsGTT (p.Met89Val) c.376_378delinsGTT (p.Met126Val) c.245_247delinsGTT (n.245_247delinsGTT) c.*14_*16delinsGTT (n.*14_*16delinsGTT) n.2503_2505delinsGTT n.425_427delinsGTT n.299_301delinsGTT c.175_177delinsGTT (p.Met59Val) | |
14 | g.90404466_90404468delinsTCT | CA2579772262 | CALM1 | c.373_375delinsTCT (p.Met125Ser) c.265_267delinsTCT (p.Met89Ser) c.376_378delinsTCT (p.Met126Ser) c.245_247delinsTCT (n.245_247delinsTCT) c.*14_*16delinsTCT (n.*14_*16delinsTCT) n.2503_2505delinsTCT n.425_427delinsTCT n.299_301delinsTCT c.175_177delinsTCT (p.Met59Ser) | |
14 | g.90404466_90404468delinsTTA | CA2579773110 | CALM1 | c.373_375delinsTTA (p.Met125Leu) c.265_267delinsTTA (p.Met89Leu) c.376_378delinsTTA (p.Met126Leu) c.245_247delinsTTA (n.245_247delinsTTA) c.*14_*16delinsTTA (n.*14_*16delinsTTA) n.2503_2505delinsTTA n.425_427delinsTTA n.299_301delinsTTA c.175_177delinsTTA (p.Met59Leu) | |
14 | g.90404466_90404468delinsTTT | CA2579773204 | CALM1 | c.373_375delinsTTT (p.Met125Phe) c.265_267delinsTTT (p.Met89Phe) c.376_378delinsTTT (p.Met126Phe) c.245_247delinsTTT (n.245_247delinsTTT) c.*14_*16delinsTTT (n.*14_*16delinsTTT) n.2503_2505delinsTTT n.425_427delinsTTT n.299_301delinsTTT c.175_177delinsTTT (p.Met59Phe) | |
14 | g.90404467T>A | CA390690304 | CALM1 | c.374T>A (p.Met125Lys) c.266T>A (p.Met89Lys) c.377T>A (p.Met126Lys) c.246T>A (n.246T>A) c.*15T>A (n.*15T>A) n.2504T>A n.426T>A n.300T>A c.176T>A (p.Met59Lys) | |
14 | g.90404467T>C | CA390690305 | CALM1 | c.374T>C (p.Met125Thr) c.266T>C (p.Met89Thr) c.377T>C (p.Met126Thr) c.246T>C (n.246T>C) c.*15T>C (n.*15T>C) n.2504T>C n.426T>C n.300T>C c.176T>C (p.Met59Thr) | |
14 | g.90404467T>G | CA390690306 | CALM1 | c.374T>G (p.Met125Arg) c.266T>G (p.Met89Arg) c.377T>G (p.Met126Arg) c.246T>G (n.246T>G) c.*15T>G (n.*15T>G) n.2504T>G n.426T>G n.300T>G c.176T>G (p.Met59Arg) | |
14 | g.90404467_90404468delinsAT | CA2579772335 | CALM1 | c.374_375delinsAT (p.Met125Asn) c.266_267delinsAT (p.Met89Asn) c.377_378delinsAT (p.Met126Asn) c.246_247delinsAT (n.246_247delinsAT) c.*15_*16delinsAT (n.*15_*16delinsAT) n.2504_2505delinsAT n.426_427delinsAT n.300_301delinsAT c.176_177delinsAT (p.Met59Asn) | |
14 | g.90404467_90404468delinsCA | CA2579771927 | CALM1 | c.374_375delinsCA (p.Met125Thr) c.266_267delinsCA (p.Met89Thr) c.377_378delinsCA (p.Met126Thr) c.246_247delinsCA (n.246_247delinsCA) c.*15_*16delinsCA (n.*15_*16delinsCA) n.2504_2505delinsCA n.426_427delinsCA n.300_301delinsCA c.176_177delinsCA (p.Met59Thr) | |
14 | g.90404467_90404468delinsCT | CA2579774000 | CALM1 | c.374_375delinsCT (p.Met125Thr) c.266_267delinsCT (p.Met89Thr) c.377_378delinsCT (p.Met126Thr) c.246_247delinsCT (n.246_247delinsCT) c.*15_*16delinsCT (n.*15_*16delinsCT) n.2504_2505delinsCT n.426_427delinsCT n.300_301delinsCT c.176_177delinsCT (p.Met59Thr) | |
14 | g.90404467_90404468delinsGT | CA2579773338 | CALM1 | c.374_375delinsGT (p.Met125Ser) c.266_267delinsGT (p.Met89Ser) c.377_378delinsGT (p.Met126Ser) c.246_247delinsGT (n.246_247delinsGT) c.*15_*16delinsGT (n.*15_*16delinsGT) n.2504_2505delinsGT n.426_427delinsGT n.300_301delinsGT c.176_177delinsGT (p.Met59Ser) | |
14 | g.90404468G>A | CA390690307 | CALM1 | c.375G>A (p.Met125Ile) c.267G>A (p.Met89Ile) c.378G>A (p.Met126Ile) c.247G>A (n.247G>A) c.*16G>A (n.*16G>A) n.2505G>A n.427G>A n.301G>A c.177G>A (p.Met59Ile) | |
14 | g.90404468G>C | CA390690308 | CALM1 | c.375G>C (p.Met125Ile) c.267G>C (p.Met89Ile) c.378G>C (p.Met126Ile) c.247G>C (n.247G>C) c.*16G>C (n.*16G>C) n.2505G>C n.427G>C n.301G>C c.177G>C (p.Met59Ile) | |
14 | g.90404468G>T | CA390690309 | CALM1 | c.375G>T (p.Met125Ile) c.267G>T (p.Met89Ile) c.378G>T (p.Met126Ile) c.247G>T (n.247G>T) c.*16G>T (n.*16G>T) n.2505G>T n.427G>T n.301G>T c.177G>T (p.Met59Ile) | |
14 | g.90404469A>C | CA390690310 | CALM1 | c.376A>C (p.Ile126Leu) c.268A>C (p.Ile90Leu) c.379A>C (p.Ile127Leu) c.248A>C (n.248A>C) c.*17A>C (n.*17A>C) n.2506A>C n.428A>C n.302A>C c.178A>C (p.Ile60Leu) | |
14 | g.90404469A>G | CA390690311 | CALM1 | c.376A>G (p.Ile126Val) c.268A>G (p.Ile90Val) c.379A>G (p.Ile127Val) c.248A>G (n.248A>G) c.*17A>G (n.*17A>G) n.2506A>G n.428A>G n.302A>G c.178A>G (p.Ile60Val) | |
14 | g.90404469A>T | CA390690312 | CALM1 | c.376A>T (p.Ile126Phe) c.268A>T (p.Ile90Phe) c.379A>T (p.Ile127Phe) c.248A>T (n.248A>T) c.*17A>T (n.*17A>T) n.2506A>T n.428A>T n.302A>T c.178A>T (p.Ile60Phe) | |
14 | g.90404469_90404470delinsCA | CA2579771642 | CALM1 | c.376_377delinsCA (p.Ile126His) c.268_269delinsCA (p.Ile90His) c.379_380delinsCA (p.Ile127His) c.248_249delinsCA (n.248_249delinsCA) c.*17_*18delinsCA (n.*17_*18delinsCA) n.2506_2507delinsCA n.428_429delinsCA n.302_303delinsCA c.178_179delinsCA (p.Ile60His) | |
14 | g.90404469_90404470delinsCC | CA2579770753 | CALM1 | c.376_377delinsCC (p.Ile126Pro) c.268_269delinsCC (p.Ile90Pro) c.379_380delinsCC (p.Ile127Pro) c.248_249delinsCC (n.248_249delinsCC) c.*17_*18delinsCC (n.*17_*18delinsCC) n.2506_2507delinsCC n.428_429delinsCC n.302_303delinsCC c.178_179delinsCC (p.Ile60Pro) | |
14 | g.90404469_90404470delinsGA | CA2579772621 | CALM1 | c.376_377delinsGA (p.Ile126Asp) c.268_269delinsGA (p.Ile90Asp) c.379_380delinsGA (p.Ile127Asp) c.248_249delinsGA (n.248_249delinsGA) c.*17_*18delinsGA (n.*17_*18delinsGA) n.2506_2507delinsGA n.428_429delinsGA n.302_303delinsGA c.178_179delinsGA (p.Ile60Asp) | |
14 | g.90404469_90404470delinsGC | CA2579770066 | CALM1 | c.376_377delinsGC (p.Ile126Ala) c.268_269delinsGC (p.Ile90Ala) c.379_380delinsGC (p.Ile127Ala) c.248_249delinsGC (n.248_249delinsGC) c.*17_*18delinsGC (n.*17_*18delinsGC) n.2506_2507delinsGC n.428_429delinsGC n.302_303delinsGC c.178_179delinsGC (p.Ile60Ala) | |
14 | g.90404469_90404470delinsGG | CA2579772895 | CALM1 | c.376_377delinsGG (p.Ile126Gly) c.268_269delinsGG (p.Ile90Gly) c.379_380delinsGG (p.Ile127Gly) c.248_249delinsGG (n.248_249delinsGG) c.*17_*18delinsGG (n.*17_*18delinsGG) n.2506_2507delinsGG n.428_429delinsGG n.302_303delinsGG c.178_179delinsGG (p.Ile60Gly) | |
14 | g.90404469_90404470delinsTA | CA2579769936 | CALM1 | c.376_377delinsTA (p.Ile126Tyr) c.268_269delinsTA (p.Ile90Tyr) c.379_380delinsTA (p.Ile127Tyr) c.248_249delinsTA (n.248_249delinsTA) c.*17_*18delinsTA (n.*17_*18delinsTA) n.2506_2507delinsTA n.428_429delinsTA n.302_303delinsTA c.178_179delinsTA (p.Ile60Tyr) | |
14 | g.90404469_90404470delinsTC | CA2579770016 | CALM1 | c.376_377delinsTC (p.Ile126Ser) c.268_269delinsTC (p.Ile90Ser) c.379_380delinsTC (p.Ile127Ser) c.248_249delinsTC (n.248_249delinsTC) c.*17_*18delinsTC (n.*17_*18delinsTC) n.2506_2507delinsTC n.428_429delinsTC n.302_303delinsTC c.178_179delinsTC (p.Ile60Ser) | |
14 | g.90404469_90404470delinsTG | CA2579771053 | CALM1 | c.376_377delinsTG (p.Ile126Cys) c.268_269delinsTG (p.Ile90Cys) c.379_380delinsTG (p.Ile127Cys) c.248_249delinsTG (n.248_249delinsTG) c.*17_*18delinsTG (n.*17_*18delinsTG) n.2506_2507delinsTG n.428_429delinsTG n.302_303delinsTG c.178_179delinsTG (p.Ile60Cys) | |
14 | g.90404469_90404471delinsCAG | CA2579771988 | CALM1 | c.376_378delinsCAG (p.Ile126Gln) c.268_270delinsCAG (p.Ile90Gln) c.379_381delinsCAG (p.Ile127Gln) c.248_250delinsCAG (n.248_250delinsCAG) c.*17_*19delinsCAG (n.*17_*19delinsCAG) n.2506_2508delinsCAG n.428_430delinsCAG n.302_304delinsCAG c.178_180delinsCAG (p.Ile60Gln) | |
14 | g.90404469_90404471delinsCCG | CA2579772441 | CALM1 | c.376_378delinsCCG (p.Ile126Pro) c.268_270delinsCCG (p.Ile90Pro) c.379_381delinsCCG (p.Ile127Pro) c.248_250delinsCCG (n.248_250delinsCCG) c.*17_*19delinsCCG (n.*17_*19delinsCCG) n.2506_2508delinsCCG n.428_430delinsCCG n.302_304delinsCCG c.178_180delinsCCG (p.Ile60Pro) | |
14 | g.90404469_90404471delinsCCT | CA2579773610 | CALM1 | c.376_378delinsCCT (p.Ile126Pro) c.268_270delinsCCT (p.Ile90Pro) c.379_381delinsCCT (p.Ile127Pro) c.248_250delinsCCT (n.248_250delinsCCT) c.*17_*19delinsCCT (n.*17_*19delinsCCT) n.2506_2508delinsCCT n.428_430delinsCCT n.302_304delinsCCT c.178_180delinsCCT (p.Ile60Pro) | |
14 | g.90404469_90404471delinsCGG | CA2579772392 | CALM1 | c.376_378delinsCGG (p.Ile126Arg) c.268_270delinsCGG (p.Ile90Arg) c.379_381delinsCGG (p.Ile127Arg) c.248_250delinsCGG (n.248_250delinsCGG) c.*17_*19delinsCGG (n.*17_*19delinsCGG) n.2506_2508delinsCGG n.428_430delinsCGG n.302_304delinsCGG c.178_180delinsCGG (p.Ile60Arg) | |
14 | g.90404469_90404471delinsCTA | CA2579772343 | CALM1 | c.376_378delinsCTA (p.Ile126Leu) c.268_270delinsCTA (p.Ile90Leu) c.379_381delinsCTA (p.Ile127Leu) c.248_250delinsCTA (n.248_250delinsCTA) c.*17_*19delinsCTA (n.*17_*19delinsCTA) n.2506_2508delinsCTA n.428_430delinsCTA n.302_304delinsCTA c.178_180delinsCTA (p.Ile60Leu) | |
14 | g.90404469_90404471delinsCTG | CA2579771638 | CALM1 | c.376_378delinsCTG (p.Ile126Leu) c.268_270delinsCTG (p.Ile90Leu) c.379_381delinsCTG (p.Ile127Leu) c.248_250delinsCTG (n.248_250delinsCTG) c.*17_*19delinsCTG (n.*17_*19delinsCTG) n.2506_2508delinsCTG n.428_430delinsCTG n.302_304delinsCTG c.178_180delinsCTG (p.Ile60Leu) | |
14 | g.90404469_90404471delinsCTT | CA2579774180 | CALM1 | c.376_378delinsCTT (p.Ile126Leu) c.268_270delinsCTT (p.Ile90Leu) c.379_381delinsCTT (p.Ile127Leu) c.248_250delinsCTT (n.248_250delinsCTT) c.*17_*19delinsCTT (n.*17_*19delinsCTT) n.2506_2508delinsCTT n.428_430delinsCTT n.302_304delinsCTT c.178_180delinsCTT (p.Ile60Leu) | |
14 | g.90404469_90404471delinsGAG | CA2579772374 | CALM1 | c.376_378delinsGAG (p.Ile126Glu) c.268_270delinsGAG (p.Ile90Glu) c.379_381delinsGAG (p.Ile127Glu) c.248_250delinsGAG (n.248_250delinsGAG) c.*17_*19delinsGAG (n.*17_*19delinsGAG) n.2506_2508delinsGAG n.428_430delinsGAG n.302_304delinsGAG c.178_180delinsGAG (p.Ile60Glu) | |
14 | g.90404469_90404471delinsGCG | CA2579772092 | CALM1 | c.376_378delinsGCG (p.Ile126Ala) c.268_270delinsGCG (p.Ile90Ala) c.379_381delinsGCG (p.Ile127Ala) c.248_250delinsGCG (n.248_250delinsGCG) c.*17_*19delinsGCG (n.*17_*19delinsGCG) n.2506_2508delinsGCG n.428_430delinsGCG n.302_304delinsGCG c.178_180delinsGCG (p.Ile60Ala) | |
14 | g.90404469_90404471delinsGCT | CA2579772160 | CALM1 | c.376_378delinsGCT (p.Ile126Ala) c.268_270delinsGCT (p.Ile90Ala) c.379_381delinsGCT (p.Ile127Ala) c.248_250delinsGCT (n.248_250delinsGCT) c.*17_*19delinsGCT (n.*17_*19delinsGCT) n.2506_2508delinsGCT n.428_430delinsGCT n.302_304delinsGCT c.178_180delinsGCT (p.Ile60Ala) | |
14 | g.90404469_90404471delinsGGG | CA2579772593 | CALM1 | c.376_378delinsGGG (p.Ile126Gly) c.268_270delinsGGG (p.Ile90Gly) c.379_381delinsGGG (p.Ile127Gly) c.248_250delinsGGG (n.248_250delinsGGG) c.*17_*19delinsGGG (n.*17_*19delinsGGG) n.2506_2508delinsGGG n.428_430delinsGGG n.302_304delinsGGG c.178_180delinsGGG (p.Ile60Gly) | |
14 | g.90404469_90404471delinsGGT | CA2579772120 | CALM1 | c.376_378delinsGGT (p.Ile126Gly) c.268_270delinsGGT (p.Ile90Gly) c.379_381delinsGGT (p.Ile127Gly) c.248_250delinsGGT (n.248_250delinsGGT) c.*17_*19delinsGGT (n.*17_*19delinsGGT) n.2506_2508delinsGGT n.428_430delinsGGT n.302_304delinsGGT c.178_180delinsGGT (p.Ile60Gly) | |
14 | g.90404469_90404471delinsGTA | CA2579772072 | CALM1 | c.376_378delinsGTA (p.Ile126Val) c.268_270delinsGTA (p.Ile90Val) c.379_381delinsGTA (p.Ile127Val) c.248_250delinsGTA (n.248_250delinsGTA) c.*17_*19delinsGTA (n.*17_*19delinsGTA) n.2506_2508delinsGTA n.428_430delinsGTA n.302_304delinsGTA c.178_180delinsGTA (p.Ile60Val) | |
14 | g.90404469_90404471delinsGTG | CA2579770029 | CALM1 | c.376_378delinsGTG (p.Ile126Val) c.268_270delinsGTG (p.Ile90Val) c.379_381delinsGTG (p.Ile127Val) c.248_250delinsGTG (n.248_250delinsGTG) c.*17_*19delinsGTG (n.*17_*19delinsGTG) n.2506_2508delinsGTG n.428_430delinsGTG n.302_304delinsGTG c.178_180delinsGTG (p.Ile60Val) | |
14 | g.90404469_90404471delinsGTT | CA2579772196 | CALM1 | c.376_378delinsGTT (p.Ile126Val) c.268_270delinsGTT (p.Ile90Val) c.379_381delinsGTT (p.Ile127Val) c.248_250delinsGTT (n.248_250delinsGTT) c.*17_*19delinsGTT (n.*17_*19delinsGTT) n.2506_2508delinsGTT n.428_430delinsGTT n.302_304delinsGTT c.178_180delinsGTT (p.Ile60Val) | |
14 | g.90404469_90404471delinsTAG | CA2579771501 | CALM1 | c.376_378delinsTAG (p.Ile126Ter) c.268_270delinsTAG (p.Ile90Ter) c.379_381delinsTAG (p.Ile127Ter) c.248_250delinsTAG (n.248_250delinsTAG) c.*17_*19delinsTAG (n.*17_*19delinsTAG) n.2506_2508delinsTAG n.428_430delinsTAG n.302_304delinsTAG c.178_180delinsTAG (p.Ile60Ter) | |
14 | g.90404469_90404471delinsTGG | CA2579773202 | CALM1 | c.376_378delinsTGG (p.Ile126Trp) c.268_270delinsTGG (p.Ile90Trp) c.379_381delinsTGG (p.Ile127Trp) c.248_250delinsTGG (n.248_250delinsTGG) c.*17_*19delinsTGG (n.*17_*19delinsTGG) n.2506_2508delinsTGG n.428_430delinsTGG n.302_304delinsTGG c.178_180delinsTGG (p.Ile60Trp) | |
14 | g.90404469_90404471delinsTGT | CA2579770282 | CALM1 | c.376_378delinsTGT (p.Ile126Cys) c.268_270delinsTGT (p.Ile90Cys) c.379_381delinsTGT (p.Ile127Cys) c.248_250delinsTGT (n.248_250delinsTGT) c.*17_*19delinsTGT (n.*17_*19delinsTGT) n.2506_2508delinsTGT n.428_430delinsTGT n.302_304delinsTGT c.178_180delinsTGT (p.Ile60Cys) | |
14 | g.90404469_90404471delinsTTA | CA2579773878 | CALM1 | c.376_378delinsTTA (p.Ile126Leu) c.268_270delinsTTA (p.Ile90Leu) c.379_381delinsTTA (p.Ile127Leu) c.248_250delinsTTA (n.248_250delinsTTA) c.*17_*19delinsTTA (n.*17_*19delinsTTA) n.2506_2508delinsTTA n.428_430delinsTTA n.302_304delinsTTA c.178_180delinsTTA (p.Ile60Leu) | |
14 | g.90404469_90404471delinsTTG | CA2579771078 | CALM1 | c.376_378delinsTTG (p.Ile126Leu) c.268_270delinsTTG (p.Ile90Leu) c.379_381delinsTTG (p.Ile127Leu) c.248_250delinsTTG (n.248_250delinsTTG) c.*17_*19delinsTTG (n.*17_*19delinsTTG) n.2506_2508delinsTTG n.428_430delinsTTG n.302_304delinsTTG c.178_180delinsTTG (p.Ile60Leu) | |
14 | g.90404469_90404471delinsTTT | CA2579772494 | CALM1 | c.376_378delinsTTT (p.Ile126Phe) c.268_270delinsTTT (p.Ile90Phe) c.379_381delinsTTT (p.Ile127Phe) c.248_250delinsTTT (n.248_250delinsTTT) c.*17_*19delinsTTT (n.*17_*19delinsTTT) n.2506_2508delinsTTT n.428_430delinsTTT n.302_304delinsTTT c.178_180delinsTTT (p.Ile60Phe) | |
14 | g.90404470T>A | CA390690313 | CALM1 | c.377T>A (p.Ile126Asn) c.269T>A (p.Ile90Asn) c.380T>A (p.Ile127Asn) c.249T>A (n.249T>A) c.*18T>A (n.*18T>A) n.2507T>A n.429T>A n.303T>A c.179T>A (p.Ile60Asn) | |
14 | g.90404470T>C | CA390690314 | CALM1 | c.377T>C (p.Ile126Thr) c.269T>C (p.Ile90Thr) c.380T>C (p.Ile127Thr) c.249T>C (n.249T>C) c.*18T>C (n.*18T>C) n.2507T>C n.429T>C n.303T>C c.179T>C (p.Ile60Thr) | |
14 | g.90404470T>G | CA390690315 | CALM1 | c.377T>G (p.Ile126Ser) c.269T>G (p.Ile90Ser) c.380T>G (p.Ile127Ser) c.249T>G (n.249T>G) c.*18T>G (n.*18T>G) n.2507T>G n.429T>G n.303T>G c.179T>G (p.Ile60Ser) | |
14 | g.90404470_90404471delinsAA | CA2579773516 | CALM1 | c.377_378delinsAA (p.Ile126Lys) c.269_270delinsAA (p.Ile90Lys) c.380_381delinsAA (p.Ile127Lys) c.249_250delinsAA (n.249_250delinsAA) c.*18_*19delinsAA (n.*18_*19delinsAA) n.2507_2508delinsAA n.429_430delinsAA n.303_304delinsAA c.179_180delinsAA (p.Ile60Lys) | |
14 | g.90404470_90404471delinsAG | CA2579771714 | CALM1 | c.377_378delinsAG (p.Ile126Lys) c.269_270delinsAG (p.Ile90Lys) c.380_381delinsAG (p.Ile127Lys) c.249_250delinsAG (n.249_250delinsAG) c.*18_*19delinsAG (n.*18_*19delinsAG) n.2507_2508delinsAG n.429_430delinsAG n.303_304delinsAG c.179_180delinsAG (p.Ile60Lys) | |
14 | g.90404470_90404471delinsAT | CA2579773108 | CALM1 | c.377_378delinsAT (p.Ile126Asn) c.269_270delinsAT (p.Ile90Asn) c.380_381delinsAT (p.Ile127Asn) c.249_250delinsAT (n.249_250delinsAT) c.*18_*19delinsAT (n.*18_*19delinsAT) n.2507_2508delinsAT n.429_430delinsAT n.303_304delinsAT c.179_180delinsAT (p.Ile60Asn) | |
14 | g.90404470_90404471delinsCA | CA2579772034 | CALM1 | c.377_378delinsCA (p.Ile126Thr) c.269_270delinsCA (p.Ile90Thr) c.380_381delinsCA (p.Ile127Thr) c.249_250delinsCA (n.249_250delinsCA) c.*18_*19delinsCA (n.*18_*19delinsCA) n.2507_2508delinsCA n.429_430delinsCA n.303_304delinsCA c.179_180delinsCA (p.Ile60Thr) | |
14 | g.90404470_90404471delinsCG | CA2579773423 | CALM1 | c.377_378delinsCG (p.Ile126Thr) c.269_270delinsCG (p.Ile90Thr) c.380_381delinsCG (p.Ile127Thr) c.249_250delinsCG (n.249_250delinsCG) c.*18_*19delinsCG (n.*18_*19delinsCG) n.2507_2508delinsCG n.429_430delinsCG n.303_304delinsCG c.179_180delinsCG (p.Ile60Thr) | |
14 | g.90404470_90404471delinsCT | CA2579770978 | CALM1 | c.377_378delinsCT (p.Ile126Thr) c.269_270delinsCT (p.Ile90Thr) c.380_381delinsCT (p.Ile127Thr) c.249_250delinsCT (n.249_250delinsCT) c.*18_*19delinsCT (n.*18_*19delinsCT) n.2507_2508delinsCT n.429_430delinsCT n.303_304delinsCT c.179_180delinsCT (p.Ile60Thr) | |
14 | g.90404470_90404471delinsGA | CA2579770378 | CALM1 | c.377_378delinsGA (p.Ile126Arg) c.269_270delinsGA (p.Ile90Arg) c.380_381delinsGA (p.Ile127Arg) c.249_250delinsGA (n.249_250delinsGA) c.*18_*19delinsGA (n.*18_*19delinsGA) n.2507_2508delinsGA n.429_430delinsGA n.303_304delinsGA c.179_180delinsGA (p.Ile60Arg) | |
14 | g.90404470_90404471delinsGG | CA2579771182 | CALM1 | c.377_378delinsGG (p.Ile126Arg) c.269_270delinsGG (p.Ile90Arg) c.380_381delinsGG (p.Ile127Arg) c.249_250delinsGG (n.249_250delinsGG) c.*18_*19delinsGG (n.*18_*19delinsGG) n.2507_2508delinsGG n.429_430delinsGG n.303_304delinsGG c.179_180delinsGG (p.Ile60Arg) | |
14 | g.90404470_90404471delinsGT | CA2579774249 | CALM1 | c.377_378delinsGT (p.Ile126Ser) c.269_270delinsGT (p.Ile90Ser) c.380_381delinsGT (p.Ile127Ser) c.249_250delinsGT (n.249_250delinsGT) c.*18_*19delinsGT (n.*18_*19delinsGT) n.2507_2508delinsGT n.429_430delinsGT n.303_304delinsGT c.179_180delinsGT (p.Ile60Ser) | |
14 | g.90404471C>A | CA487760335 | CALM1 | c.378C>A (p.Ile126=) c.270C>A (p.Ile90=) c.381C>A (p.Ile127=) c.250C>A (n.250C>A) c.*19C>A (n.*19C>A) n.2508C>A n.430C>A n.304C>A c.180C>A (p.Ile60=) | |
14 | g.90404471C>G | CA390690316 | CALM1 | c.378C>G (p.Ile126Met) c.270C>G (p.Ile90Met) c.381C>G (p.Ile127Met) c.250C>G (n.250C>G) c.*19C>G (n.*19C>G) n.2508C>G n.430C>G n.304C>G c.180C>G (p.Ile60Met) | |
14 | g.90404471C>T | CA487760334 | CALM1 | c.378C>T (p.Ile126=) c.270C>T (p.Ile90=) c.381C>T (p.Ile127=) c.250C>T (n.250C>T) c.*19C>T (n.*19C>T) n.2508C>T n.430C>T n.304C>T c.180C>T (p.Ile60=) | COSMIC |
14 | g.90404472A>C | CA487760338 | CALM1 | c.379A>C (p.Arg127=) c.271A>C (p.Arg91=) c.382A>C (p.Arg128=) c.251A>C (n.251A>C) c.*20A>C (n.*20A>C) n.2509A>C n.431A>C n.305A>C c.181A>C (p.Arg61=) | gnomAD v4 |
14 | g.90404472A>G | CA390690317 | CALM1 | c.379A>G (p.Arg127Gly) c.271A>G (p.Arg91Gly) c.382A>G (p.Arg128Gly) c.251A>G (n.251A>G) c.*20A>G (n.*20A>G) n.2509A>G n.431A>G n.305A>G c.181A>G (p.Arg61Gly) | |
14 | g.90404472A>T | CA390690318 | CALM1 | c.379A>T (p.Arg127Ter) c.271A>T (p.Arg91Ter) c.382A>T (p.Arg128Ter) c.251A>T (n.251A>T) c.*20A>T (n.*20A>T) n.2509A>T n.431A>T n.305A>T c.181A>T (p.Arg61Ter) | |
14 | g.90404472_90404473delinsCA | CA2579769799 | CALM1 | c.379_380delinsCA (p.Arg127Gln) c.271_272delinsCA (p.Arg91Gln) c.382_383delinsCA (p.Arg128Gln) c.251_252delinsCA (n.251_252delinsCA) c.*20_*21delinsCA (n.*20_*21delinsCA) n.2509_2510delinsCA n.431_432delinsCA n.305_306delinsCA c.181_182delinsCA (p.Arg61Gln) | |
14 | g.90404472_90404473delinsCC | CA2579770845 | CALM1 | c.379_380delinsCC (p.Arg127Pro) c.271_272delinsCC (p.Arg91Pro) c.382_383delinsCC (p.Arg128Pro) c.251_252delinsCC (n.251_252delinsCC) c.*20_*21delinsCC (n.*20_*21delinsCC) n.2509_2510delinsCC n.431_432delinsCC n.305_306delinsCC c.181_182delinsCC (p.Arg61Pro) | |
14 | g.90404472_90404473delinsCT | CA2579772130 | CALM1 | c.379_380delinsCT (p.Arg127Leu) c.271_272delinsCT (p.Arg91Leu) c.382_383delinsCT (p.Arg128Leu) c.251_252delinsCT (n.251_252delinsCT) c.*20_*21delinsCT (n.*20_*21delinsCT) n.2509_2510delinsCT n.431_432delinsCT n.305_306delinsCT c.181_182delinsCT (p.Arg61Leu) | |
14 | g.90404472_90404473delinsGA | CA2579773635 | CALM1 | c.379_380delinsGA (p.Arg127Glu) c.271_272delinsGA (p.Arg91Glu) c.382_383delinsGA (p.Arg128Glu) c.251_252delinsGA (n.251_252delinsGA) c.*20_*21delinsGA (n.*20_*21delinsGA) n.2509_2510delinsGA n.431_432delinsGA n.305_306delinsGA c.181_182delinsGA (p.Arg61Glu) | |
14 | g.90404472_90404473delinsGC | CA2579773442 | CALM1 | c.379_380delinsGC (p.Arg127Ala) c.271_272delinsGC (p.Arg91Ala) c.382_383delinsGC (p.Arg128Ala) c.251_252delinsGC (n.251_252delinsGC) c.*20_*21delinsGC (n.*20_*21delinsGC) n.2509_2510delinsGC n.431_432delinsGC n.305_306delinsGC c.181_182delinsGC (p.Arg61Ala) | |
14 | g.90404472_90404473delinsGT | CA2579770684 | CALM1 | c.379_380delinsGT (p.Arg127Val) c.271_272delinsGT (p.Arg91Val) c.382_383delinsGT (p.Arg128Val) c.251_252delinsGT (n.251_252delinsGT) c.*20_*21delinsGT (n.*20_*21delinsGT) n.2509_2510delinsGT n.431_432delinsGT n.305_306delinsGT c.181_182delinsGT (p.Arg61Val) | |
14 | g.90404472_90404473delinsTA | CA2579772488 | CALM1 | c.379_380delinsTA (p.Arg127Ter) c.271_272delinsTA (p.Arg91Ter) c.382_383delinsTA (p.Arg128Ter) c.251_252delinsTA (n.251_252delinsTA) c.*20_*21delinsTA (n.*20_*21delinsTA) n.2509_2510delinsTA n.431_432delinsTA n.305_306delinsTA c.181_182delinsTA (p.Arg61Ter) | |
14 | g.90404472_90404473delinsTC | CA2579772110 | CALM1 | c.379_380delinsTC (p.Arg127Ser) c.271_272delinsTC (p.Arg91Ser) c.382_383delinsTC (p.Arg128Ser) c.251_252delinsTC (n.251_252delinsTC) c.*20_*21delinsTC (n.*20_*21delinsTC) n.2509_2510delinsTC n.431_432delinsTC n.305_306delinsTC c.181_182delinsTC (p.Arg61Ser) | |
14 | g.90404472_90404473delinsTT | CA2579772530 | CALM1 | c.379_380delinsTT (p.Arg127Leu) c.271_272delinsTT (p.Arg91Leu) c.382_383delinsTT (p.Arg128Leu) c.251_252delinsTT (n.251_252delinsTT) c.*20_*21delinsTT (n.*20_*21delinsTT) n.2509_2510delinsTT n.431_432delinsTT n.305_306delinsTT c.181_182delinsTT (p.Arg61Leu) | |
14 | g.90404472_90404474delinsCAT | CA2579771858 | CALM1 | c.379_381delinsCAT (p.Arg127His) c.271_273delinsCAT (p.Arg91His) c.382_384delinsCAT (p.Arg128His) c.251_253delinsCAT (n.251_253delinsCAT) c.*20_*22delinsCAT (n.*20_*22delinsCAT) n.2509_2511delinsCAT n.431_433delinsCAT n.305_307delinsCAT c.181_183delinsCAT (p.Arg61His) | |
14 | g.90404472_90404474delinsCCG | CA2579771018 | CALM1 | c.379_381delinsCCG (p.Arg127Pro) c.271_273delinsCCG (p.Arg91Pro) c.382_384delinsCCG (p.Arg128Pro) c.251_253delinsCCG (n.251_253delinsCCG) c.*20_*22delinsCCG (n.*20_*22delinsCCG) n.2509_2511delinsCCG n.431_433delinsCCG n.305_307delinsCCG c.181_183delinsCCG (p.Arg61Pro) | |
14 | g.90404472_90404474delinsCCT | CA2579773754 | CALM1 | c.379_381delinsCCT (p.Arg127Pro) c.271_273delinsCCT (p.Arg91Pro) c.382_384delinsCCT (p.Arg128Pro) c.251_253delinsCCT (n.251_253delinsCCT) c.*20_*22delinsCCT (n.*20_*22delinsCCT) n.2509_2511delinsCCT n.431_433delinsCCT n.305_307delinsCCT c.181_183delinsCCT (p.Arg61Pro) | |
14 | g.90404472_90404474delinsCGG | CA2579774266 | CALM1 | c.379_381delinsCGG (p.Arg127=) c.271_273delinsCGG (p.Arg91=) c.382_384delinsCGG (p.Arg128=) c.251_253delinsCGG (n.251_253delinsCGG) c.*20_*22delinsCGG (n.*20_*22delinsCGG) n.2509_2511delinsCGG n.431_433delinsCGG n.305_307delinsCGG c.181_183delinsCGG (p.Arg61=) | |
14 | g.90404472_90404474delinsCGT | CA2579772527 | CALM1 | c.379_381delinsCGT (p.Arg127=) c.271_273delinsCGT (p.Arg91=) c.382_384delinsCGT (p.Arg128=) c.251_253delinsCGT (n.251_253delinsCGT) c.*20_*22delinsCGT (n.*20_*22delinsCGT) n.2509_2511delinsCGT n.431_433delinsCGT n.305_307delinsCGT c.181_183delinsCGT (p.Arg61=) | |
14 | g.90404472_90404474delinsCTG | CA2579774032 | CALM1 | c.379_381delinsCTG (p.Arg127Leu) c.271_273delinsCTG (p.Arg91Leu) c.382_384delinsCTG (p.Arg128Leu) c.251_253delinsCTG (n.251_253delinsCTG) c.*20_*22delinsCTG (n.*20_*22delinsCTG) n.2509_2511delinsCTG n.431_433delinsCTG n.305_307delinsCTG c.181_183delinsCTG (p.Arg61Leu) | |
14 | g.90404472_90404474delinsCTT | CA2579773715 | CALM1 | c.379_381delinsCTT (p.Arg127Leu) c.271_273delinsCTT (p.Arg91Leu) c.382_384delinsCTT (p.Arg128Leu) c.251_253delinsCTT (n.251_253delinsCTT) c.*20_*22delinsCTT (n.*20_*22delinsCTT) n.2509_2511delinsCTT n.431_433delinsCTT n.305_307delinsCTT c.181_183delinsCTT (p.Arg61Leu) | |
14 | g.90404472_90404474delinsGCG | CA2579770823 | CALM1 | c.379_381delinsGCG (p.Arg127Ala) c.271_273delinsGCG (p.Arg91Ala) c.382_384delinsGCG (p.Arg128Ala) c.251_253delinsGCG (n.251_253delinsGCG) c.*20_*22delinsGCG (n.*20_*22delinsGCG) n.2509_2511delinsGCG n.431_433delinsGCG n.305_307delinsGCG c.181_183delinsGCG (p.Arg61Ala) | |
14 | g.90404472_90404474delinsGCT | CA2579770491 | CALM1 | c.379_381delinsGCT (p.Arg127Ala) c.271_273delinsGCT (p.Arg91Ala) c.382_384delinsGCT (p.Arg128Ala) c.251_253delinsGCT (n.251_253delinsGCT) c.*20_*22delinsGCT (n.*20_*22delinsGCT) n.2509_2511delinsGCT n.431_433delinsGCT n.305_307delinsGCT c.181_183delinsGCT (p.Arg61Ala) | |
14 | g.90404472_90404474delinsGGG | CA2579770795 | CALM1 | c.379_381delinsGGG (p.Arg127Gly) c.271_273delinsGGG (p.Arg91Gly) c.382_384delinsGGG (p.Arg128Gly) c.251_253delinsGGG (n.251_253delinsGGG) c.*20_*22delinsGGG (n.*20_*22delinsGGG) n.2509_2511delinsGGG n.431_433delinsGGG n.305_307delinsGGG c.181_183delinsGGG (p.Arg61Gly) | |
14 | g.90404472_90404474delinsGGT | CA2579770444 | CALM1 | c.379_381delinsGGT (p.Arg127Gly) c.271_273delinsGGT (p.Arg91Gly) c.382_384delinsGGT (p.Arg128Gly) c.251_253delinsGGT (n.251_253delinsGGT) c.*20_*22delinsGGT (n.*20_*22delinsGGT) n.2509_2511delinsGGT n.431_433delinsGGT n.305_307delinsGGT c.181_183delinsGGT (p.Arg61Gly) | |
14 | g.90404472_90404474delinsGTG | CA2579769809 | CALM1 | c.379_381delinsGTG (p.Arg127Val) c.271_273delinsGTG (p.Arg91Val) c.382_384delinsGTG (p.Arg128Val) c.251_253delinsGTG (n.251_253delinsGTG) c.*20_*22delinsGTG (n.*20_*22delinsGTG) n.2509_2511delinsGTG n.431_433delinsGTG n.305_307delinsGTG c.181_183delinsGTG (p.Arg61Val) | |
14 | g.90404472_90404474delinsGTT | CA2579772074 | CALM1 | c.379_381delinsGTT (p.Arg127Val) c.271_273delinsGTT (p.Arg91Val) c.382_384delinsGTT (p.Arg128Val) c.251_253delinsGTT (n.251_253delinsGTT) c.*20_*22delinsGTT (n.*20_*22delinsGTT) n.2509_2511delinsGTT n.431_433delinsGTT n.305_307delinsGTT c.181_183delinsGTT (p.Arg61Val) | |
14 | g.90404472_90404474delinsTAT | CA2579772904 | CALM1 | c.379_381delinsTAT (p.Arg127Tyr) c.271_273delinsTAT (p.Arg91Tyr) c.382_384delinsTAT (p.Arg128Tyr) c.251_253delinsTAT (n.251_253delinsTAT) c.*20_*22delinsTAT (n.*20_*22delinsTAT) n.2509_2511delinsTAT n.431_433delinsTAT n.305_307delinsTAT c.181_183delinsTAT (p.Arg61Tyr) | |
14 | g.90404472_90404474delinsTCG | CA2579770489 | CALM1 | c.379_381delinsTCG (p.Arg127Ser) c.271_273delinsTCG (p.Arg91Ser) c.382_384delinsTCG (p.Arg128Ser) c.251_253delinsTCG (n.251_253delinsTCG) c.*20_*22delinsTCG (n.*20_*22delinsTCG) n.2509_2511delinsTCG n.431_433delinsTCG n.305_307delinsTCG c.181_183delinsTCG (p.Arg61Ser) | |
14 | g.90404472_90404474delinsTCT | CA2579771476 | CALM1 | c.379_381delinsTCT (p.Arg127Ser) c.271_273delinsTCT (p.Arg91Ser) c.382_384delinsTCT (p.Arg128Ser) c.251_253delinsTCT (n.251_253delinsTCT) c.*20_*22delinsTCT (n.*20_*22delinsTCT) n.2509_2511delinsTCT n.431_433delinsTCT n.305_307delinsTCT c.181_183delinsTCT (p.Arg61Ser) | |
14 | g.90404472_90404474delinsTGG | CA2579773473 | CALM1 | c.379_381delinsTGG (p.Arg127Trp) c.271_273delinsTGG (p.Arg91Trp) c.382_384delinsTGG (p.Arg128Trp) c.251_253delinsTGG (n.251_253delinsTGG) c.*20_*22delinsTGG (n.*20_*22delinsTGG) n.2509_2511delinsTGG n.431_433delinsTGG n.305_307delinsTGG c.181_183delinsTGG (p.Arg61Trp) | |
14 | g.90404472_90404474delinsTGT | CA2579771960 | CALM1 | c.379_381delinsTGT (p.Arg127Cys) c.271_273delinsTGT (p.Arg91Cys) c.382_384delinsTGT (p.Arg128Cys) c.251_253delinsTGT (n.251_253delinsTGT) c.*20_*22delinsTGT (n.*20_*22delinsTGT) n.2509_2511delinsTGT n.431_433delinsTGT n.305_307delinsTGT c.181_183delinsTGT (p.Arg61Cys) | |
14 | g.90404472_90404474delinsTTG | CA2579773834 | CALM1 | c.379_381delinsTTG (p.Arg127Leu) c.271_273delinsTTG (p.Arg91Leu) c.382_384delinsTTG (p.Arg128Leu) c.251_253delinsTTG (n.251_253delinsTTG) c.*20_*22delinsTTG (n.*20_*22delinsTTG) n.2509_2511delinsTTG n.431_433delinsTTG n.305_307delinsTTG c.181_183delinsTTG (p.Arg61Leu) | |
14 | g.90404472_90404474delinsTTT | CA2579770756 | CALM1 | c.379_381delinsTTT (p.Arg127Phe) c.271_273delinsTTT (p.Arg91Phe) c.382_384delinsTTT (p.Arg128Phe) c.251_253delinsTTT (n.251_253delinsTTT) c.*20_*22delinsTTT (n.*20_*22delinsTTT) n.2509_2511delinsTTT n.431_433delinsTTT n.305_307delinsTTT c.181_183delinsTTT (p.Arg61Phe) | |
14 | g.90404473G>A | CA390690319 | CALM1 | c.380G>A (p.Arg127Lys) c.272G>A (p.Arg91Lys) c.383G>A (p.Arg128Lys) c.252G>A (n.252G>A) c.*21G>A (n.*21G>A) n.2510G>A n.432G>A n.306G>A c.182G>A (p.Arg61Lys) | |
14 | g.90404473G>C | CA390690320 | CALM1 | c.380G>C (p.Arg127Thr) c.272G>C (p.Arg91Thr) c.383G>C (p.Arg128Thr) c.252G>C (n.252G>C) c.*21G>C (n.*21G>C) n.2510G>C n.432G>C n.306G>C c.182G>C (p.Arg61Thr) | |
14 | g.90404473G>T | CA390690321 | CALM1 | c.380G>T (p.Arg127Ile) c.272G>T (p.Arg91Ile) c.383G>T (p.Arg128Ile) c.252G>T (n.252G>T) c.*21G>T (n.*21G>T) n.2510G>T n.432G>T n.306G>T c.182G>T (p.Arg61Ile) | |
14 | g.90404473_90404474delinsAC | CA2579771267 | CALM1 | c.380_381delinsAC (p.Arg127Asn) c.272_273delinsAC (p.Arg91Asn) c.383_384delinsAC (p.Arg128Asn) c.252_253delinsAC (n.252_253delinsAC) c.*21_*22delinsAC (n.*21_*22delinsAC) n.2510_2511delinsAC n.432_433delinsAC n.306_307delinsAC c.182_183delinsAC (p.Arg61Asn) | |
14 | g.90404473_90404474delinsAG | CA2579772737 | CALM1 | c.380_381delinsAG (p.Arg127Lys) c.272_273delinsAG (p.Arg91Lys) c.383_384delinsAG (p.Arg128Lys) c.252_253delinsAG (n.252_253delinsAG) c.*21_*22delinsAG (n.*21_*22delinsAG) n.2510_2511delinsAG n.432_433delinsAG n.306_307delinsAG c.182_183delinsAG (p.Arg61Lys) | |
14 | g.90404473_90404474delinsAT | CA2579772552 | CALM1 | c.380_381delinsAT (p.Arg127Asn) c.272_273delinsAT (p.Arg91Asn) c.383_384delinsAT (p.Arg128Asn) c.252_253delinsAT (n.252_253delinsAT) c.*21_*22delinsAT (n.*21_*22delinsAT) n.2510_2511delinsAT n.432_433delinsAT n.306_307delinsAT c.182_183delinsAT (p.Arg61Asn) | |
14 | g.90404473_90404474delinsCC | CA2579770731 | CALM1 | c.380_381delinsCC (p.Arg127Thr) c.272_273delinsCC (p.Arg91Thr) c.383_384delinsCC (p.Arg128Thr) c.252_253delinsCC (n.252_253delinsCC) c.*21_*22delinsCC (n.*21_*22delinsCC) n.2510_2511delinsCC n.432_433delinsCC n.306_307delinsCC c.182_183delinsCC (p.Arg61Thr) | |
14 | g.90404473_90404474delinsCG | CA2579771496 | CALM1 | c.380_381delinsCG (p.Arg127Thr) c.272_273delinsCG (p.Arg91Thr) c.383_384delinsCG (p.Arg128Thr) c.252_253delinsCG (n.252_253delinsCG) c.*21_*22delinsCG (n.*21_*22delinsCG) n.2510_2511delinsCG n.432_433delinsCG n.306_307delinsCG c.182_183delinsCG (p.Arg61Thr) | |
14 | g.90404473_90404474delinsCT | CA2579774318 | CALM1 | c.380_381delinsCT (p.Arg127Thr) c.272_273delinsCT (p.Arg91Thr) c.383_384delinsCT (p.Arg128Thr) c.252_253delinsCT (n.252_253delinsCT) c.*21_*22delinsCT (n.*21_*22delinsCT) n.2510_2511delinsCT n.432_433delinsCT n.306_307delinsCT c.182_183delinsCT (p.Arg61Thr) | |
14 | g.90404473_90404474delinsTC | CA2579772958 | CALM1 | c.380_381delinsTC (p.Arg127Ile) c.272_273delinsTC (p.Arg91Ile) c.383_384delinsTC (p.Arg128Ile) c.252_253delinsTC (n.252_253delinsTC) c.*21_*22delinsTC (n.*21_*22delinsTC) n.2510_2511delinsTC n.432_433delinsTC n.306_307delinsTC c.182_183delinsTC (p.Arg61Ile) | |
14 | g.90404473_90404474delinsTG | CA2579769882 | CALM1 | c.380_381delinsTG (p.Arg127Met) c.272_273delinsTG (p.Arg91Met) c.383_384delinsTG (p.Arg128Met) c.252_253delinsTG (n.252_253delinsTG) c.*21_*22delinsTG (n.*21_*22delinsTG) n.2510_2511delinsTG n.432_433delinsTG n.306_307delinsTG c.182_183delinsTG (p.Arg61Met) | |
14 | g.90404473_90404474delinsTT | CA2579770691 | CALM1 | c.380_381delinsTT (p.Arg127Ile) c.272_273delinsTT (p.Arg91Ile) c.383_384delinsTT (p.Arg128Ile) c.252_253delinsTT (n.252_253delinsTT) c.*21_*22delinsTT (n.*21_*22delinsTT) n.2510_2511delinsTT n.432_433delinsTT n.306_307delinsTT c.182_183delinsTT (p.Arg61Ile) | |
14 | g.90404474A= | CA2154484151 | CALM1 | c.381A= (p.Arg127=) c.273A= (p.Arg91=) c.384A= (p.Arg128=) c.253A= (n.253A=) c.*22A= (n.*22A=) n.2511A= n.433A= n.307A= c.183A= (p.Arg61=) | |
14 | g.90404474A>C | CA390690322 | CALM1 | c.381A>C (p.Arg127Ser) c.273A>C (p.Arg91Ser) c.384A>C (p.Arg128Ser) c.253A>C (n.253A>C) c.*22A>C (n.*22A>C) n.2511A>C n.433A>C n.307A>C c.183A>C (p.Arg61Ser) | |
14 | g.90404474A>G | CA487760346 | CALM1 | c.381A>G (p.Arg127=) c.273A>G (p.Arg91=) c.384A>G (p.Arg128=) c.253A>G (n.253A>G) c.*22A>G (n.*22A>G) n.2511A>G n.433A>G n.307A>G c.183A>G (p.Arg61=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.90404474A>T | CA390690323 | CALM1 | c.381A>T (p.Arg127Ser) c.273A>T (p.Arg91Ser) c.384A>T (p.Arg128Ser) c.253A>T (n.253A>T) c.*22A>T (n.*22A>T) n.2511A>T n.433A>T n.307A>T c.183A>T (p.Arg61Ser) | |
14 | g.90404475G>A | CA390690324 | CALM1 | c.382G>A (p.Glu128Lys) c.274G>A (p.Glu92Lys) c.385G>A (p.Glu129Lys) c.254G>A (n.254G>A) c.*23G>A (n.*23G>A) n.2512G>A n.434G>A n.308G>A c.184G>A (p.Glu62Lys) | |
14 | g.90404475G>C | CA390690325 | CALM1 | c.382G>C (p.Glu128Gln) c.274G>C (p.Glu92Gln) c.385G>C (p.Glu129Gln) c.254G>C (n.254G>C) c.*23G>C (n.*23G>C) n.2512G>C n.434G>C n.308G>C c.184G>C (p.Glu62Gln) | |
14 | g.90404475G>T | CA390690326 | CALM1 | c.382G>T (p.Glu128Ter) c.274G>T (p.Glu92Ter) c.385G>T (p.Glu129Ter) c.254G>T (n.254G>T) c.*23G>T (n.*23G>T) n.2512G>T n.434G>T n.308G>T c.184G>T (p.Glu62Ter) | |
14 | g.90404475_90404476delinsAC | CA2579774196 | CALM1 | c.382_383delinsAC (p.Glu128Thr) c.274_275delinsAC (p.Glu92Thr) c.385_386delinsAC (p.Glu129Thr) c.254_255delinsAC (n.254_255delinsAC) c.*23_*24delinsAC (n.*23_*24delinsAC) n.2512_2513delinsAC n.434_435delinsAC n.308_309delinsAC c.184_185delinsAC (p.Glu62Thr) | |
14 | g.90404475_90404476delinsAG | CA2579773326 | CALM1 | c.382_383delinsAG (p.Glu128Arg) c.274_275delinsAG (p.Glu92Arg) c.385_386delinsAG (p.Glu129Arg) c.254_255delinsAG (n.254_255delinsAG) c.*23_*24delinsAG (n.*23_*24delinsAG) n.2512_2513delinsAG n.434_435delinsAG n.308_309delinsAG c.184_185delinsAG (p.Glu62Arg) | |
14 | g.90404475_90404476delinsAT | CA2579771572 | CALM1 | c.382_383delinsAT (p.Glu128Ile) c.274_275delinsAT (p.Glu92Ile) c.385_386delinsAT (p.Glu129Ile) c.254_255delinsAT (n.254_255delinsAT) c.*23_*24delinsAT (n.*23_*24delinsAT) n.2512_2513delinsAT n.434_435delinsAT n.308_309delinsAT c.184_185delinsAT (p.Glu62Ile) | |
14 | g.90404475_90404476delinsCC | CA2579773680 | CALM1 | c.382_383delinsCC (p.Glu128Pro) c.274_275delinsCC (p.Glu92Pro) c.385_386delinsCC (p.Glu129Pro) c.254_255delinsCC (n.254_255delinsCC) c.*23_*24delinsCC (n.*23_*24delinsCC) n.2512_2513delinsCC n.434_435delinsCC n.308_309delinsCC c.184_185delinsCC (p.Glu62Pro) | |
14 | g.90404475_90404476delinsCG | CA2579770354 | CALM1 | c.382_383delinsCG (p.Glu128Arg) c.274_275delinsCG (p.Glu92Arg) c.385_386delinsCG (p.Glu129Arg) c.254_255delinsCG (n.254_255delinsCG) c.*23_*24delinsCG (n.*23_*24delinsCG) n.2512_2513delinsCG n.434_435delinsCG n.308_309delinsCG c.184_185delinsCG (p.Glu62Arg) | |
14 | g.90404475_90404476delinsCT | CA2579771221 | CALM1 | c.382_383delinsCT (p.Glu128Leu) c.274_275delinsCT (p.Glu92Leu) c.385_386delinsCT (p.Glu129Leu) c.254_255delinsCT (n.254_255delinsCT) c.*23_*24delinsCT (n.*23_*24delinsCT) n.2512_2513delinsCT n.434_435delinsCT n.308_309delinsCT c.184_185delinsCT (p.Glu62Leu) | |
14 | g.90404475_90404476delinsTC | CA2579769821 | CALM1 | c.382_383delinsTC (p.Glu128Ser) c.274_275delinsTC (p.Glu92Ser) c.385_386delinsTC (p.Glu129Ser) c.254_255delinsTC (n.254_255delinsTC) c.*23_*24delinsTC (n.*23_*24delinsTC) n.2512_2513delinsTC n.434_435delinsTC n.308_309delinsTC c.184_185delinsTC (p.Glu62Ser) | |
14 | g.90404475_90404476delinsTG | CA2579771970 | CALM1 | c.382_383delinsTG (p.Glu128Ter) c.274_275delinsTG (p.Glu92Ter) c.385_386delinsTG (p.Glu129Ter) c.254_255delinsTG (n.254_255delinsTG) c.*23_*24delinsTG (n.*23_*24delinsTG) n.2512_2513delinsTG n.434_435delinsTG n.308_309delinsTG c.184_185delinsTG (p.Glu62Ter) | |
14 | g.90404475_90404476delinsTT | CA2579773357 | CALM1 | c.382_383delinsTT (p.Glu128Leu) c.274_275delinsTT (p.Glu92Leu) c.385_386delinsTT (p.Glu129Leu) c.254_255delinsTT (n.254_255delinsTT) c.*23_*24delinsTT (n.*23_*24delinsTT) n.2512_2513delinsTT n.434_435delinsTT n.308_309delinsTT c.184_185delinsTT (p.Glu62Leu) | |
14 | g.90404475_90404477delinsAAC | CA2579774183 | CALM1 | c.382_384delinsAAC (p.Glu128Asn) c.274_276delinsAAC (p.Glu92Asn) c.385_387delinsAAC (p.Glu129Asn) c.254_256delinsAAC (n.254_256delinsAAC) c.*23_*25delinsAAC (n.*23_*25delinsAAC) n.2512_2514delinsAAC n.434_436delinsAAC n.308_310delinsAAC c.184_186delinsAAC (p.Glu62Asn) | |
14 | g.90404475_90404477delinsAAG | CA2579774268 | CALM1 | c.382_384delinsAAG (p.Glu128Lys) c.274_276delinsAAG (p.Glu92Lys) c.385_387delinsAAG (p.Glu129Lys) c.254_256delinsAAG (n.254_256delinsAAG) c.*23_*25delinsAAG (n.*23_*25delinsAAG) n.2512_2514delinsAAG n.434_436delinsAAG n.308_310delinsAAG c.184_186delinsAAG (p.Glu62Lys) | |
14 | g.90404475_90404477delinsAAT | CA2579771832 | CALM1 | c.382_384delinsAAT (p.Glu128Asn) c.274_276delinsAAT (p.Glu92Asn) c.385_387delinsAAT (p.Glu129Asn) c.254_256delinsAAT (n.254_256delinsAAT) c.*23_*25delinsAAT (n.*23_*25delinsAAT) n.2512_2514delinsAAT n.434_436delinsAAT n.308_310delinsAAT c.184_186delinsAAT (p.Glu62Asn) | |
14 | g.90404475_90404477delinsACG | CA2579773869 | CALM1 | c.382_384delinsACG (p.Glu128Thr) c.274_276delinsACG (p.Glu92Thr) c.385_387delinsACG (p.Glu129Thr) c.254_256delinsACG (n.254_256delinsACG) c.*23_*25delinsACG (n.*23_*25delinsACG) n.2512_2514delinsACG n.434_436delinsACG n.308_310delinsACG c.184_186delinsACG (p.Glu62Thr) | |
14 | g.90404475_90404477delinsAGG | CA2579773589 | CALM1 | c.382_384delinsAGG (p.Glu128Arg) c.274_276delinsAGG (p.Glu92Arg) c.385_387delinsAGG (p.Glu129Arg) c.254_256delinsAGG (n.254_256delinsAGG) c.*23_*25delinsAGG (n.*23_*25delinsAGG) n.2512_2514delinsAGG n.434_436delinsAGG n.308_310delinsAGG c.184_186delinsAGG (p.Glu62Arg) | |
14 | g.90404475_90404477delinsAGT | CA2579772400 | CALM1 | c.382_384delinsAGT (p.Glu128Ser) c.274_276delinsAGT (p.Glu92Ser) c.385_387delinsAGT (p.Glu129Ser) c.254_256delinsAGT (n.254_256delinsAGT) c.*23_*25delinsAGT (n.*23_*25delinsAGT) n.2512_2514delinsAGT n.434_436delinsAGT n.308_310delinsAGT c.184_186delinsAGT (p.Glu62Ser) | |
14 | g.90404475_90404477delinsATG | CA2579773842 | CALM1 | c.382_384delinsATG (p.Glu128Met) c.274_276delinsATG (p.Glu92Met) c.385_387delinsATG (p.Glu129Met) c.254_256delinsATG (n.254_256delinsATG) c.*23_*25delinsATG (n.*23_*25delinsATG) n.2512_2514delinsATG n.434_436delinsATG n.308_310delinsATG c.184_186delinsATG (p.Glu62Met) | |
14 | g.90404475_90404477delinsATT | CA2579772153 | CALM1 | c.382_384delinsATT (p.Glu128Ile) c.274_276delinsATT (p.Glu92Ile) c.385_387delinsATT (p.Glu129Ile) c.254_256delinsATT (n.254_256delinsATT) c.*23_*25delinsATT (n.*23_*25delinsATT) n.2512_2514delinsATT n.434_436delinsATT n.308_310delinsATT c.184_186delinsATT (p.Glu62Ile) | |
14 | g.90404475_90404477delinsCAG | CA2579771020 | CALM1 | c.382_384delinsCAG (p.Glu128Gln) c.274_276delinsCAG (p.Glu92Gln) c.385_387delinsCAG (p.Glu129Gln) c.254_256delinsCAG (n.254_256delinsCAG) c.*23_*25delinsCAG (n.*23_*25delinsCAG) n.2512_2514delinsCAG n.434_436delinsCAG n.308_310delinsCAG c.184_186delinsCAG (p.Glu62Gln) | |
14 | g.90404475_90404477delinsCAT | CA2579773192 | CALM1 | c.382_384delinsCAT (p.Glu128His) c.274_276delinsCAT (p.Glu92His) c.385_387delinsCAT (p.Glu129His) c.254_256delinsCAT (n.254_256delinsCAT) c.*23_*25delinsCAT (n.*23_*25delinsCAT) n.2512_2514delinsCAT n.434_436delinsCAT n.308_310delinsCAT c.184_186delinsCAT (p.Glu62His) | |
14 | g.90404475_90404477delinsCCG | CA2579772721 | CALM1 | c.382_384delinsCCG (p.Glu128Pro) c.274_276delinsCCG (p.Glu92Pro) c.385_387delinsCCG (p.Glu129Pro) c.254_256delinsCCG (n.254_256delinsCCG) c.*23_*25delinsCCG (n.*23_*25delinsCCG) n.2512_2514delinsCCG n.434_436delinsCCG n.308_310delinsCCG c.184_186delinsCCG (p.Glu62Pro) | |
14 | g.90404475_90404477delinsCCT | CA2579773330 | CALM1 | c.382_384delinsCCT (p.Glu128Pro) c.274_276delinsCCT (p.Glu92Pro) c.385_387delinsCCT (p.Glu129Pro) c.254_256delinsCCT (n.254_256delinsCCT) c.*23_*25delinsCCT (n.*23_*25delinsCCT) n.2512_2514delinsCCT n.434_436delinsCCT n.308_310delinsCCT c.184_186delinsCCT (p.Glu62Pro) | |
14 | g.90404475_90404477delinsCGG | CA2579771940 | CALM1 | c.382_384delinsCGG (p.Glu128Arg) c.274_276delinsCGG (p.Glu92Arg) c.385_387delinsCGG (p.Glu129Arg) c.254_256delinsCGG (n.254_256delinsCGG) c.*23_*25delinsCGG (n.*23_*25delinsCGG) n.2512_2514delinsCGG n.434_436delinsCGG n.308_310delinsCGG c.184_186delinsCGG (p.Glu62Arg) | |
14 | g.90404475_90404477delinsCGT | CA2579772803 | CALM1 | c.382_384delinsCGT (p.Glu128Arg) c.274_276delinsCGT (p.Glu92Arg) c.385_387delinsCGT (p.Glu129Arg) c.254_256delinsCGT (n.254_256delinsCGT) c.*23_*25delinsCGT (n.*23_*25delinsCGT) n.2512_2514delinsCGT n.434_436delinsCGT n.308_310delinsCGT c.184_186delinsCGT (p.Glu62Arg) | |
14 | g.90404475_90404477delinsCTG | CA2579773852 | CALM1 | c.382_384delinsCTG (p.Glu128Leu) c.274_276delinsCTG (p.Glu92Leu) c.385_387delinsCTG (p.Glu129Leu) c.254_256delinsCTG (n.254_256delinsCTG) c.*23_*25delinsCTG (n.*23_*25delinsCTG) n.2512_2514delinsCTG n.434_436delinsCTG n.308_310delinsCTG c.184_186delinsCTG (p.Glu62Leu) | |
14 | g.90404475_90404477delinsCTT | CA2579773786 | CALM1 | c.382_384delinsCTT (p.Glu128Leu) c.274_276delinsCTT (p.Glu92Leu) c.385_387delinsCTT (p.Glu129Leu) c.254_256delinsCTT (n.254_256delinsCTT) c.*23_*25delinsCTT (n.*23_*25delinsCTT) n.2512_2514delinsCTT n.434_436delinsCTT n.308_310delinsCTT c.184_186delinsCTT (p.Glu62Leu) | |
14 | g.90404475_90404477delinsTAG | CA2579773673 | CALM1 | c.382_384delinsTAG (p.Glu128Ter) c.274_276delinsTAG (p.Glu92Ter) c.385_387delinsTAG (p.Glu129Ter) c.254_256delinsTAG (n.254_256delinsTAG) c.*23_*25delinsTAG (n.*23_*25delinsTAG) n.2512_2514delinsTAG n.434_436delinsTAG n.308_310delinsTAG c.184_186delinsTAG (p.Glu62Ter) | |
14 | g.90404475_90404477delinsTAT | CA2579769801 | CALM1 | c.382_384delinsTAT (p.Glu128Tyr) c.274_276delinsTAT (p.Glu92Tyr) c.385_387delinsTAT (p.Glu129Tyr) c.254_256delinsTAT (n.254_256delinsTAT) c.*23_*25delinsTAT (n.*23_*25delinsTAT) n.2512_2514delinsTAT n.434_436delinsTAT n.308_310delinsTAT c.184_186delinsTAT (p.Glu62Tyr) | |
14 | g.90404475_90404477delinsTCG | CA2579772741 | CALM1 | c.382_384delinsTCG (p.Glu128Ser) c.274_276delinsTCG (p.Glu92Ser) c.385_387delinsTCG (p.Glu129Ser) c.254_256delinsTCG (n.254_256delinsTCG) c.*23_*25delinsTCG (n.*23_*25delinsTCG) n.2512_2514delinsTCG n.434_436delinsTCG n.308_310delinsTCG c.184_186delinsTCG (p.Glu62Ser) | |
14 | g.90404475_90404477delinsTCT | CA2579769806 | CALM1 | c.382_384delinsTCT (p.Glu128Ser) c.274_276delinsTCT (p.Glu92Ser) c.385_387delinsTCT (p.Glu129Ser) c.254_256delinsTCT (n.254_256delinsTCT) c.*23_*25delinsTCT (n.*23_*25delinsTCT) n.2512_2514delinsTCT n.434_436delinsTCT n.308_310delinsTCT c.184_186delinsTCT (p.Glu62Ser) | |
14 | g.90404475_90404477delinsTGG | CA2579773503 | CALM1 | c.382_384delinsTGG (p.Glu128Trp) c.274_276delinsTGG (p.Glu92Trp) c.385_387delinsTGG (p.Glu129Trp) c.254_256delinsTGG (n.254_256delinsTGG) c.*23_*25delinsTGG (n.*23_*25delinsTGG) n.2512_2514delinsTGG n.434_436delinsTGG n.308_310delinsTGG c.184_186delinsTGG (p.Glu62Trp) | |
14 | g.90404475_90404477delinsTGT | CA2579770191 | CALM1 | c.382_384delinsTGT (p.Glu128Cys) c.274_276delinsTGT (p.Glu92Cys) c.385_387delinsTGT (p.Glu129Cys) c.254_256delinsTGT (n.254_256delinsTGT) c.*23_*25delinsTGT (n.*23_*25delinsTGT) n.2512_2514delinsTGT n.434_436delinsTGT n.308_310delinsTGT c.184_186delinsTGT (p.Glu62Cys) | |
14 | g.90404475_90404477delinsTTG | CA2579769977 | CALM1 | c.382_384delinsTTG (p.Glu128Leu) c.274_276delinsTTG (p.Glu92Leu) c.385_387delinsTTG (p.Glu129Leu) c.254_256delinsTTG (n.254_256delinsTTG) c.*23_*25delinsTTG (n.*23_*25delinsTTG) n.2512_2514delinsTTG n.434_436delinsTTG n.308_310delinsTTG c.184_186delinsTTG (p.Glu62Leu) | |
14 | g.90404475_90404477delinsTTT | CA2579771203 | CALM1 | c.382_384delinsTTT (p.Glu128Phe) c.274_276delinsTTT (p.Glu92Phe) c.385_387delinsTTT (p.Glu129Phe) c.254_256delinsTTT (n.254_256delinsTTT) c.*23_*25delinsTTT (n.*23_*25delinsTTT) n.2512_2514delinsTTT n.434_436delinsTTT n.308_310delinsTTT c.184_186delinsTTT (p.Glu62Phe) | |
14 | g.90404476A>C | CA390690327 | CALM1 | c.383A>C (p.Glu128Ala) c.275A>C (p.Glu92Ala) c.386A>C (p.Glu129Ala) c.255A>C (n.255A>C) c.*24A>C (n.*24A>C) n.2513A>C n.435A>C n.309A>C c.185A>C (p.Glu62Ala) | |
14 | g.90404476A>G | CA390690328 | CALM1 | c.383A>G (p.Glu128Gly) c.275A>G (p.Glu92Gly) c.386A>G (p.Glu129Gly) c.255A>G (n.255A>G) c.*24A>G (n.*24A>G) n.2513A>G n.435A>G n.309A>G c.185A>G (p.Glu62Gly) | |
14 | g.90404476A>T | CA390690329 | CALM1 | c.383A>T (p.Glu128Val) c.275A>T (p.Glu92Val) c.386A>T (p.Glu129Val) c.255A>T (n.255A>T) c.*24A>T (n.*24A>T) n.2513A>T n.435A>T n.309A>T c.185A>T (p.Glu62Val) | |
14 | g.90404476_90404477delinsCG | CA2579771866 | CALM1 | c.383_384delinsCG (p.Glu128Ala) c.275_276delinsCG (p.Glu92Ala) c.386_387delinsCG (p.Glu129Ala) c.255_256delinsCG (n.255_256delinsCG) c.*24_*25delinsCG (n.*24_*25delinsCG) n.2513_2514delinsCG n.435_436delinsCG n.309_310delinsCG c.185_186delinsCG (p.Glu62Ala) | |
14 | g.90404476_90404477delinsCT | CA2579769935 | CALM1 | c.383_384delinsCT (p.Glu128Ala) c.275_276delinsCT (p.Glu92Ala) c.386_387delinsCT (p.Glu129Ala) c.255_256delinsCT (n.255_256delinsCT) c.*24_*25delinsCT (n.*24_*25delinsCT) n.2513_2514delinsCT n.435_436delinsCT n.309_310delinsCT c.185_186delinsCT (p.Glu62Ala) | |
14 | g.90404476_90404477delinsGC | CA2579773407 | CALM1 | c.383_384delinsGC (p.Glu128Gly) c.275_276delinsGC (p.Glu92Gly) c.386_387delinsGC (p.Glu129Gly) c.255_256delinsGC (n.255_256delinsGC) c.*24_*25delinsGC (n.*24_*25delinsGC) n.2513_2514delinsGC n.435_436delinsGC n.309_310delinsGC c.185_186delinsGC (p.Glu62Gly) | |
14 | g.90404476_90404477delinsGG | CA2579772880 | CALM1 | c.383_384delinsGG (p.Glu128Gly) c.275_276delinsGG (p.Glu92Gly) c.386_387delinsGG (p.Glu129Gly) c.255_256delinsGG (n.255_256delinsGG) c.*24_*25delinsGG (n.*24_*25delinsGG) n.2513_2514delinsGG n.435_436delinsGG n.309_310delinsGG c.185_186delinsGG (p.Glu62Gly) | |
14 | g.90404476_90404477delinsGT | CA2579771039 | CALM1 | c.383_384delinsGT (p.Glu128Gly) c.275_276delinsGT (p.Glu92Gly) c.386_387delinsGT (p.Glu129Gly) c.255_256delinsGT (n.255_256delinsGT) c.*24_*25delinsGT (n.*24_*25delinsGT) n.2513_2514delinsGT n.435_436delinsGT n.309_310delinsGT c.185_186delinsGT (p.Glu62Gly) | |
14 | g.90404476_90404477delinsTG | CA2579769975 | CALM1 | c.383_384delinsTG (p.Glu128Val) c.275_276delinsTG (p.Glu92Val) c.386_387delinsTG (p.Glu129Val) c.255_256delinsTG (n.255_256delinsTG) c.*24_*25delinsTG (n.*24_*25delinsTG) n.2513_2514delinsTG n.435_436delinsTG n.309_310delinsTG c.185_186delinsTG (p.Glu62Val) | |
14 | g.90404476_90404477delinsTT | CA2579773009 | CALM1 | c.383_384delinsTT (p.Glu128Val) c.275_276delinsTT (p.Glu92Val) c.386_387delinsTT (p.Glu129Val) c.255_256delinsTT (n.255_256delinsTT) c.*24_*25delinsTT (n.*24_*25delinsTT) n.2513_2514delinsTT n.435_436delinsTT n.309_310delinsTT c.185_186delinsTT (p.Glu62Val) | |
14 | g.90404477A>C | CA390690331 | CALM1 | c.384A>C (p.Glu128Asp) c.276A>C (p.Glu92Asp) c.387A>C (p.Glu129Asp) c.256A>C (n.256A>C) c.*25A>C (n.*25A>C) n.2514A>C n.436A>C n.310A>C c.186A>C (p.Glu62Asp) | |
14 | g.90404477A>G | CA487760356 | CALM1 | c.384A>G (p.Glu128=) c.276A>G (p.Glu92=) c.387A>G (p.Glu129=) c.256A>G (n.256A>G) c.*25A>G (n.*25A>G) n.2514A>G n.436A>G n.310A>G c.186A>G (p.Glu62=) | |
14 | g.90404477A>T | CA390690330 | CALM1 | c.384A>T (p.Glu128Asp) c.276A>T (p.Glu92Asp) c.387A>T (p.Glu129Asp) c.256A>T (n.256A>T) c.*25A>T (n.*25A>T) n.2514A>T n.436A>T n.310A>T c.186A>T (p.Glu62Asp) | |
14 | g.90404478G>A | CA390690332 | CALM1 | c.385G>A (p.Ala129Thr) c.277G>A (p.Ala93Thr) c.388G>A (p.Ala130Thr) c.257G>A (n.257G>A) c.*26G>A (n.*26G>A) n.2515G>A n.437G>A n.311G>A c.187G>A (p.Ala63Thr) | |
14 | g.90404478G>C | CA390690334 | CALM1 | c.385G>C (p.Ala129Pro) c.277G>C (p.Ala93Pro) c.388G>C (p.Ala130Pro) c.257G>C (n.257G>C) c.*26G>C (n.*26G>C) n.2515G>C n.437G>C n.311G>C c.187G>C (p.Ala63Pro) | |
14 | g.90404478G>T | CA390690333 | CALM1 | c.385G>T (p.Ala129Ser) c.277G>T (p.Ala93Ser) c.388G>T (p.Ala130Ser) c.257G>T (n.257G>T) c.*26G>T (n.*26G>T) n.2515G>T n.437G>T n.311G>T c.187G>T (p.Ala63Ser) | |
14 | g.90404478_90404479delinsAA | CA2579773528 | CALM1 | c.385_386delinsAA (p.Ala129Lys) c.277_278delinsAA (p.Ala93Lys) c.388_389delinsAA (p.Ala130Lys) c.257_258delinsAA (n.257_258delinsAA) c.*26_*27delinsAA (n.*26_*27delinsAA) n.2515_2516delinsAA n.437_438delinsAA n.311_312delinsAA c.187_188delinsAA (p.Ala63Lys) | |
14 | g.90404478_90404479delinsAG | CA2579773850 | CALM1 | c.385_386delinsAG (p.Ala129Arg) c.277_278delinsAG (p.Ala93Arg) c.388_389delinsAG (p.Ala130Arg) c.257_258delinsAG (n.257_258delinsAG) c.*26_*27delinsAG (n.*26_*27delinsAG) n.2515_2516delinsAG n.437_438delinsAG n.311_312delinsAG c.187_188delinsAG (p.Ala63Arg) | |
14 | g.90404478_90404479delinsAT | CA2579773092 | CALM1 | c.385_386delinsAT (p.Ala129Ile) c.277_278delinsAT (p.Ala93Ile) c.388_389delinsAT (p.Ala130Ile) c.257_258delinsAT (n.257_258delinsAT) c.*26_*27delinsAT (n.*26_*27delinsAT) n.2515_2516delinsAT n.437_438delinsAT n.311_312delinsAT c.187_188delinsAT (p.Ala63Ile) | |
14 | g.90404478_90404479delinsCG | CA2579773526 | CALM1 | c.385_386delinsCG (p.Ala129Arg) c.277_278delinsCG (p.Ala93Arg) c.388_389delinsCG (p.Ala130Arg) c.257_258delinsCG (n.257_258delinsCG) c.*26_*27delinsCG (n.*26_*27delinsCG) n.2515_2516delinsCG n.437_438delinsCG n.311_312delinsCG c.187_188delinsCG (p.Ala63Arg) | |
14 | g.90404478_90404479delinsCT | CA2579770076 | CALM1 | c.385_386delinsCT (p.Ala129Leu) c.277_278delinsCT (p.Ala93Leu) c.388_389delinsCT (p.Ala130Leu) c.257_258delinsCT (n.257_258delinsCT) c.*26_*27delinsCT (n.*26_*27delinsCT) n.2515_2516delinsCT n.437_438delinsCT n.311_312delinsCT c.187_188delinsCT (p.Ala63Leu) | |
14 | g.90404478_90404479delinsTA | CA2579771059 | CALM1 | c.385_386delinsTA (p.Ala129Ter) c.277_278delinsTA (p.Ala93Ter) c.388_389delinsTA (p.Ala130Ter) c.257_258delinsTA (n.257_258delinsTA) c.*26_*27delinsTA (n.*26_*27delinsTA) n.2515_2516delinsTA n.437_438delinsTA n.311_312delinsTA c.187_188delinsTA (p.Ala63Ter) | |
14 | g.90404478_90404479delinsTG | CA2579773303 | CALM1 | c.385_386delinsTG (p.Ala129Ter) c.277_278delinsTG (p.Ala93Ter) c.388_389delinsTG (p.Ala130Ter) c.257_258delinsTG (n.257_258delinsTG) c.*26_*27delinsTG (n.*26_*27delinsTG) n.2515_2516delinsTG n.437_438delinsTG n.311_312delinsTG c.187_188delinsTG (p.Ala63Ter) | |
14 | g.90404478_90404479delinsTT | CA2579772640 | CALM1 | c.385_386delinsTT (p.Ala129Leu) c.277_278delinsTT (p.Ala93Leu) c.388_389delinsTT (p.Ala130Leu) c.257_258delinsTT (n.257_258delinsTT) c.*26_*27delinsTT (n.*26_*27delinsTT) n.2515_2516delinsTT n.437_438delinsTT n.311_312delinsTT c.187_188delinsTT (p.Ala63Leu) | |
14 | g.90404478_90404480delinsAAG | CA2579769872 | CALM1 | c.385_387delinsAAG (p.Ala129Lys) c.277_279delinsAAG (p.Ala93Lys) c.388_390delinsAAG (p.Ala130Lys) c.257_259delinsAAG (n.257_259delinsAAG) c.*26_*28delinsAAG (n.*26_*28delinsAAG) n.2515_2517delinsAAG n.437_439delinsAAG n.311_313delinsAAG c.187_189delinsAAG (p.Ala63Lys) | |
14 | g.90404478_90404480delinsAAT | CA2579772898 | CALM1 | c.385_387delinsAAT (p.Ala129Asn) c.277_279delinsAAT (p.Ala93Asn) c.388_390delinsAAT (p.Ala130Asn) c.257_259delinsAAT (n.257_259delinsAAT) c.*26_*28delinsAAT (n.*26_*28delinsAAT) n.2515_2517delinsAAT n.437_439delinsAAT n.311_313delinsAAT c.187_189delinsAAT (p.Ala63Asn) | |
14 | g.90404478_90404480delinsACG | CA2579772468 | CALM1 | c.385_387delinsACG (p.Ala129Thr) c.277_279delinsACG (p.Ala93Thr) c.388_390delinsACG (p.Ala130Thr) c.257_259delinsACG (n.257_259delinsACG) c.*26_*28delinsACG (n.*26_*28delinsACG) n.2515_2517delinsACG n.437_439delinsACG n.311_313delinsACG c.187_189delinsACG (p.Ala63Thr) | |
14 | g.90404478_90404480delinsACT | CA2579772014 | CALM1 | c.385_387delinsACT (p.Ala129Thr) c.277_279delinsACT (p.Ala93Thr) c.388_390delinsACT (p.Ala130Thr) c.257_259delinsACT (n.257_259delinsACT) c.*26_*28delinsACT (n.*26_*28delinsACT) n.2515_2517delinsACT n.437_439delinsACT n.311_313delinsACT c.187_189delinsACT (p.Ala63Thr) | |
14 | g.90404478_90404480delinsAGG | CA2579771777 | CALM1 | c.385_387delinsAGG (p.Ala129Arg) c.277_279delinsAGG (p.Ala93Arg) c.388_390delinsAGG (p.Ala130Arg) c.257_259delinsAGG (n.257_259delinsAGG) c.*26_*28delinsAGG (n.*26_*28delinsAGG) n.2515_2517delinsAGG n.437_439delinsAGG n.311_313delinsAGG c.187_189delinsAGG (p.Ala63Arg) | |
14 | g.90404478_90404480delinsAGT | CA2579770286 | CALM1 | c.385_387delinsAGT (p.Ala129Ser) c.277_279delinsAGT (p.Ala93Ser) c.388_390delinsAGT (p.Ala130Ser) c.257_259delinsAGT (n.257_259delinsAGT) c.*26_*28delinsAGT (n.*26_*28delinsAGT) n.2515_2517delinsAGT n.437_439delinsAGT n.311_313delinsAGT c.187_189delinsAGT (p.Ala63Ser) | |
14 | g.90404478_90404480delinsATG | CA2579770091 | CALM1 | c.385_387delinsATG (p.Ala129Met) c.277_279delinsATG (p.Ala93Met) c.388_390delinsATG (p.Ala130Met) c.257_259delinsATG (n.257_259delinsATG) c.*26_*28delinsATG (n.*26_*28delinsATG) n.2515_2517delinsATG n.437_439delinsATG n.311_313delinsATG c.187_189delinsATG (p.Ala63Met) | |
14 | g.90404478_90404480delinsATT | CA2579770902 | CALM1 | c.385_387delinsATT (p.Ala129Ile) c.277_279delinsATT (p.Ala93Ile) c.388_390delinsATT (p.Ala130Ile) c.257_259delinsATT (n.257_259delinsATT) c.*26_*28delinsATT (n.*26_*28delinsATT) n.2515_2517delinsATT n.437_439delinsATT n.311_313delinsATT c.187_189delinsATT (p.Ala63Ile) | |
14 | g.90404478_90404480delinsCCC | CA2579774140 | CALM1 | c.385_387delinsCCC (p.Ala129Pro) c.277_279delinsCCC (p.Ala93Pro) c.388_390delinsCCC (p.Ala130Pro) c.257_259delinsCCC (n.257_259delinsCCC) c.*26_*28delinsCCC (n.*26_*28delinsCCC) n.2515_2517delinsCCC n.437_439delinsCCC n.311_313delinsCCC c.187_189delinsCCC (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCCG | CA2579773234 | CALM1 | c.385_387delinsCCG (p.Ala129Pro) c.277_279delinsCCG (p.Ala93Pro) c.388_390delinsCCG (p.Ala130Pro) c.257_259delinsCCG (n.257_259delinsCCG) c.*26_*28delinsCCG (n.*26_*28delinsCCG) n.2515_2517delinsCCG n.437_439delinsCCG n.311_313delinsCCG c.187_189delinsCCG (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCCT | CA2579770824 | CALM1 | c.385_387delinsCCT (p.Ala129Pro) c.277_279delinsCCT (p.Ala93Pro) c.388_390delinsCCT (p.Ala130Pro) c.257_259delinsCCT (n.257_259delinsCCT) c.*26_*28delinsCCT (n.*26_*28delinsCCT) n.2515_2517delinsCCT n.437_439delinsCCT n.311_313delinsCCT c.187_189delinsCCT (p.Ala63Pro) | |
14 | g.90404478_90404480delinsCGG | CA2579772747 | CALM1 | c.385_387delinsCGG (p.Ala129Arg) c.277_279delinsCGG (p.Ala93Arg) c.388_390delinsCGG (p.Ala130Arg) c.257_259delinsCGG (n.257_259delinsCGG) c.*26_*28delinsCGG (n.*26_*28delinsCGG) n.2515_2517delinsCGG n.437_439delinsCGG n.311_313delinsCGG c.187_189delinsCGG (p.Ala63Arg) | |
14 | g.90404478_90404480delinsCGT | CA2579771087 | CALM1 | c.385_387delinsCGT (p.Ala129Arg) c.277_279delinsCGT (p.Ala93Arg) c.388_390delinsCGT (p.Ala130Arg) c.257_259delinsCGT (n.257_259delinsCGT) c.*26_*28delinsCGT (n.*26_*28delinsCGT) n.2515_2517delinsCGT n.437_439delinsCGT n.311_313delinsCGT c.187_189delinsCGT (p.Ala63Arg) | |
14 | g.90404478_90404480delinsCTC | CA2579771883 | CALM1 | c.385_387delinsCTC (p.Ala129Leu) c.277_279delinsCTC (p.Ala93Leu) c.388_390delinsCTC (p.Ala130Leu) c.257_259delinsCTC (n.257_259delinsCTC) c.*26_*28delinsCTC (n.*26_*28delinsCTC) n.2515_2517delinsCTC n.437_439delinsCTC n.311_313delinsCTC c.187_189delinsCTC (p.Ala63Leu) | |
14 | g.90404478_90404480delinsCTG | CA2579773053 | CALM1 | c.385_387delinsCTG (p.Ala129Leu) c.277_279delinsCTG (p.Ala93Leu) c.388_390delinsCTG (p.Ala130Leu) c.257_259delinsCTG (n.257_259delinsCTG) c.*26_*28delinsCTG (n.*26_*28delinsCTG) n.2515_2517delinsCTG n.437_439delinsCTG n.311_313delinsCTG c.187_189delinsCTG (p.Ala63Leu) | |
14 | g.90404478_90404480delinsCTT | CA2579770669 | CALM1 | c.385_387delinsCTT (p.Ala129Leu) c.277_279delinsCTT (p.Ala93Leu) c.388_390delinsCTT (p.Ala130Leu) c.257_259delinsCTT (n.257_259delinsCTT) c.*26_*28delinsCTT (n.*26_*28delinsCTT) n.2515_2517delinsCTT n.437_439delinsCTT n.311_313delinsCTT c.187_189delinsCTT (p.Ala63Leu) | |
14 | g.90404478_90404480delinsTAG | CA2579769831 | CALM1 | c.385_387delinsTAG (p.Ala129Ter) c.277_279delinsTAG (p.Ala93Ter) c.388_390delinsTAG (p.Ala130Ter) c.257_259delinsTAG (n.257_259delinsTAG) c.*26_*28delinsTAG (n.*26_*28delinsTAG) n.2515_2517delinsTAG n.437_439delinsTAG n.311_313delinsTAG c.187_189delinsTAG (p.Ala63Ter) | |
14 | g.90404478_90404480delinsTAT | CA2579773525 | CALM1 | c.385_387delinsTAT (p.Ala129Tyr) c.277_279delinsTAT (p.Ala93Tyr) c.388_390delinsTAT (p.Ala130Tyr) c.257_259delinsTAT (n.257_259delinsTAT) c.*26_*28delinsTAT (n.*26_*28delinsTAT) n.2515_2517delinsTAT n.437_439delinsTAT n.311_313delinsTAT c.187_189delinsTAT (p.Ala63Tyr) | |
14 | g.90404478_90404480delinsTCC | CA2579773904 | CALM1 | c.385_387delinsTCC (p.Ala129Ser) c.277_279delinsTCC (p.Ala93Ser) c.388_390delinsTCC (p.Ala130Ser) c.257_259delinsTCC (n.257_259delinsTCC) c.*26_*28delinsTCC (n.*26_*28delinsTCC) n.2515_2517delinsTCC n.437_439delinsTCC n.311_313delinsTCC c.187_189delinsTCC (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTCG | CA2579771471 | CALM1 | c.385_387delinsTCG (p.Ala129Ser) c.277_279delinsTCG (p.Ala93Ser) c.388_390delinsTCG (p.Ala130Ser) c.257_259delinsTCG (n.257_259delinsTCG) c.*26_*28delinsTCG (n.*26_*28delinsTCG) n.2515_2517delinsTCG n.437_439delinsTCG n.311_313delinsTCG c.187_189delinsTCG (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTCT | CA2579773994 | CALM1 | c.385_387delinsTCT (p.Ala129Ser) c.277_279delinsTCT (p.Ala93Ser) c.388_390delinsTCT (p.Ala130Ser) c.257_259delinsTCT (n.257_259delinsTCT) c.*26_*28delinsTCT (n.*26_*28delinsTCT) n.2515_2517delinsTCT n.437_439delinsTCT n.311_313delinsTCT c.187_189delinsTCT (p.Ala63Ser) | |
14 | g.90404478_90404480delinsTGG | CA2579773942 | CALM1 | c.385_387delinsTGG (p.Ala129Trp) c.277_279delinsTGG (p.Ala93Trp) c.388_390delinsTGG (p.Ala130Trp) c.257_259delinsTGG (n.257_259delinsTGG) c.*26_*28delinsTGG (n.*26_*28delinsTGG) n.2515_2517delinsTGG n.437_439delinsTGG n.311_313delinsTGG c.187_189delinsTGG (p.Ala63Trp) | |
14 | g.90404478_90404480delinsTGT | CA2579770762 | CALM1 | c.385_387delinsTGT (p.Ala129Cys) c.277_279delinsTGT (p.Ala93Cys) c.388_390delinsTGT (p.Ala130Cys) c.257_259delinsTGT (n.257_259delinsTGT) c.*26_*28delinsTGT (n.*26_*28delinsTGT) n.2515_2517delinsTGT n.437_439delinsTGT n.311_313delinsTGT c.187_189delinsTGT (p.Ala63Cys) | |
14 | g.90404478_90404480delinsTTG | CA2579773702 | CALM1 | c.385_387delinsTTG (p.Ala129Leu) c.277_279delinsTTG (p.Ala93Leu) c.388_390delinsTTG (p.Ala130Leu) c.257_259delinsTTG (n.257_259delinsTTG) c.*26_*28delinsTTG (n.*26_*28delinsTTG) n.2515_2517delinsTTG n.437_439delinsTTG n.311_313delinsTTG c.187_189delinsTTG (p.Ala63Leu) | |
14 | g.90404478_90404480delinsTTT | CA2579771141 | CALM1 | c.385_387delinsTTT (p.Ala129Phe) c.277_279delinsTTT (p.Ala93Phe) c.388_390delinsTTT (p.Ala130Phe) c.257_259delinsTTT (n.257_259delinsTTT) c.*26_*28delinsTTT (n.*26_*28delinsTTT) n.2515_2517delinsTTT n.437_439delinsTTT n.311_313delinsTTT c.187_189delinsTTT (p.Ala63Phe) | |
14 | g.90404479C>A | CA390690335 | CALM1 | c.386C>A (p.Ala129Glu) c.278C>A (p.Ala93Glu) c.389C>A (p.Ala130Glu) c.258C>A (n.258C>A) c.*27C>A (n.*27C>A) n.2516C>A n.438C>A n.312C>A c.188C>A (p.Ala63Glu) | |
14 | g.90404479C>G | CA390690336 | CALM1 | c.386C>G (p.Ala129Gly) c.278C>G (p.Ala93Gly) c.389C>G (p.Ala130Gly) c.258C>G (n.258C>G) c.*27C>G (n.*27C>G) n.2516C>G n.438C>G n.312C>G c.188C>G (p.Ala63Gly) | |
14 | g.90404479C>T | CA390690337 | CALM1 | c.386C>T (p.Ala129Val) c.278C>T (p.Ala93Val) c.389C>T (p.Ala130Val) c.258C>T (n.258C>T) c.*27C>T (n.*27C>T) n.2516C>T n.438C>T n.312C>T c.188C>T (p.Ala63Val) | |
14 | g.90404479_90404480delinsAG | CA2579770953 | CALM1 | c.386_387delinsAG (p.Ala129Glu) c.278_279delinsAG (p.Ala93Glu) c.389_390delinsAG (p.Ala130Glu) c.258_259delinsAG (n.258_259delinsAG) c.*27_*28delinsAG (n.*27_*28delinsAG) n.2516_2517delinsAG n.438_439delinsAG n.312_313delinsAG c.188_189delinsAG (p.Ala63Glu) | |
14 | g.90404479_90404480delinsAT | CA2579771217 | CALM1 | c.386_387delinsAT (p.Ala129Asp) c.278_279delinsAT (p.Ala93Asp) c.389_390delinsAT (p.Ala130Asp) c.258_259delinsAT (n.258_259delinsAT) c.*27_*28delinsAT (n.*27_*28delinsAT) n.2516_2517delinsAT n.438_439delinsAT n.312_313delinsAT c.188_189delinsAT (p.Ala63Asp) | |
14 | g.90404479_90404480delinsGG | CA2579771586 | CALM1 | c.386_387delinsGG (p.Ala129Gly) c.278_279delinsGG (p.Ala93Gly) c.389_390delinsGG (p.Ala130Gly) c.258_259delinsGG (n.258_259delinsGG) c.*27_*28delinsGG (n.*27_*28delinsGG) n.2516_2517delinsGG n.438_439delinsGG n.312_313delinsGG c.188_189delinsGG (p.Ala63Gly) | |
14 | g.90404479_90404480delinsGT | CA2579770975 | CALM1 | c.386_387delinsGT (p.Ala129Gly) c.278_279delinsGT (p.Ala93Gly) c.389_390delinsGT (p.Ala130Gly) c.258_259delinsGT (n.258_259delinsGT) c.*27_*28delinsGT (n.*27_*28delinsGT) n.2516_2517delinsGT n.438_439delinsGT n.312_313delinsGT c.188_189delinsGT (p.Ala63Gly) | |
14 | g.90404479_90404480delinsTG | CA2579772008 | CALM1 | c.386_387delinsTG (p.Ala129Val) c.278_279delinsTG (p.Ala93Val) c.389_390delinsTG (p.Ala130Val) c.258_259delinsTG (n.258_259delinsTG) c.*27_*28delinsTG (n.*27_*28delinsTG) n.2516_2517delinsTG n.438_439delinsTG n.312_313delinsTG c.188_189delinsTG (p.Ala63Val) | |
14 | g.90404479_90404480delinsTT | CA2579772754 | CALM1 | c.386_387delinsTT (p.Ala129Val) c.278_279delinsTT (p.Ala93Val) c.389_390delinsTT (p.Ala130Val) c.258_259delinsTT (n.258_259delinsTT) c.*27_*28delinsTT (n.*27_*28delinsTT) n.2516_2517delinsTT n.438_439delinsTT n.312_313delinsTT c.188_189delinsTT (p.Ala63Val) | |
14 | g.90404480A>C | CA487760369 | CALM1 | c.387A>C (p.Ala129=) c.279A>C (p.Ala93=) c.390A>C (p.Ala130=) c.259A>C (n.259A>C) c.*28A>C (n.*28A>C) n.2517A>C n.439A>C n.313A>C c.189A>C (p.Ala63=) | |
14 | g.90404480A>G | CA487760370 | CALM1 | c.387A>G (p.Ala129=) c.279A>G (p.Ala93=) c.390A>G (p.Ala130=) c.259A>G (n.259A>G) c.*28A>G (n.*28A>G) n.2517A>G n.439A>G n.313A>G c.189A>G (p.Ala63=) | |
14 | g.90404480A>T | CA487760371 | CALM1 | c.387A>T (p.Ala129=) c.279A>T (p.Ala93=) c.390A>T (p.Ala130=) c.259A>T (n.259A>T) c.*28A>T (n.*28A>T) n.2517A>T n.439A>T n.313A>T c.189A>T (p.Ala63=) | |
14 | g.90404481G>A | CA390690338 | CALM1 | c.388G>A (p.Asp130Asn) c.280G>A (p.Asp94Asn) c.391G>A (p.Asp131Asn) c.260G>A (n.260G>A) c.*29G>A (n.*29G>A) n.2518G>A n.440G>A n.314G>A c.190G>A (p.Asp64Asn) | |
14 | g.90404481G>C | CA390690339 | CALM1 | c.388G>C (p.Asp130His) c.280G>C (p.Asp94His) c.391G>C (p.Asp131His) c.260G>C (n.260G>C) c.*29G>C (n.*29G>C) n.2518G>C n.440G>C n.314G>C c.190G>C (p.Asp64His) | |
14 | g.90404481G>T | CA390690340 | CALM1 | c.388G>T (p.Asp130Tyr) c.280G>T (p.Asp94Tyr) c.391G>T (p.Asp131Tyr) c.260G>T (n.260G>T) c.*29G>T (n.*29G>T) n.2518G>T n.440G>T n.314G>T c.190G>T (p.Asp64Tyr) | |
14 | g.90404481_90404482delinsAC | CA2579769844 | CALM1 | c.388_389delinsAC (p.Asp130Thr) c.280_281delinsAC (p.Asp94Thr) c.391_392delinsAC (p.Asp131Thr) c.260_261delinsAC (n.260_261delinsAC) c.*29_*30delinsAC (n.*29_*30delinsAC) n.2518_2519delinsAC n.440_441delinsAC n.314_315delinsAC c.190_191delinsAC (p.Asp64Thr) | |
14 | g.90404481_90404482delinsAG | CA2579770991 | CALM1 | c.388_389delinsAG (p.Asp130Ser) c.280_281delinsAG (p.Asp94Ser) c.391_392delinsAG (p.Asp131Ser) c.260_261delinsAG (n.260_261delinsAG) c.*29_*30delinsAG (n.*29_*30delinsAG) n.2518_2519delinsAG n.440_441delinsAG n.314_315delinsAG c.190_191delinsAG (p.Asp64Ser) | |
14 | g.90404481_90404482delinsAT | CA2579770574 | CALM1 | c.388_389delinsAT (p.Asp130Ile) c.280_281delinsAT (p.Asp94Ile) c.391_392delinsAT (p.Asp131Ile) c.260_261delinsAT (n.260_261delinsAT) c.*29_*30delinsAT (n.*29_*30delinsAT) n.2518_2519delinsAT n.440_441delinsAT n.314_315delinsAT c.190_191delinsAT (p.Asp64Ile) | |
14 | g.90404481_90404482delinsCC | CA2579771435 | CALM1 | c.388_389delinsCC (p.Asp130Pro) c.280_281delinsCC (p.Asp94Pro) c.391_392delinsCC (p.Asp131Pro) c.260_261delinsCC (n.260_261delinsCC) c.*29_*30delinsCC (n.*29_*30delinsCC) n.2518_2519delinsCC n.440_441delinsCC n.314_315delinsCC c.190_191delinsCC (p.Asp64Pro) | |
14 | g.90404481_90404482delinsCG | CA2579771169 | CALM1 | c.388_389delinsCG (p.Asp130Arg) c.280_281delinsCG (p.Asp94Arg) c.391_392delinsCG (p.Asp131Arg) c.260_261delinsCG (n.260_261delinsCG) c.*29_*30delinsCG (n.*29_*30delinsCG) n.2518_2519delinsCG n.440_441delinsCG n.314_315delinsCG c.190_191delinsCG (p.Asp64Arg) | |
14 | g.90404481_90404482delinsCT | CA2579772546 | CALM1 | c.388_389delinsCT (p.Asp130Leu) c.280_281delinsCT (p.Asp94Leu) c.391_392delinsCT (p.Asp131Leu) c.260_261delinsCT (n.260_261delinsCT) c.*29_*30delinsCT (n.*29_*30delinsCT) n.2518_2519delinsCT n.440_441delinsCT n.314_315delinsCT c.190_191delinsCT (p.Asp64Leu) | |
14 | g.90404481_90404482delinsTC | CA2579772678 | CALM1 | c.388_389delinsTC (p.Asp130Ser) c.280_281delinsTC (p.Asp94Ser) c.391_392delinsTC (p.Asp131Ser) c.260_261delinsTC (n.260_261delinsTC) c.*29_*30delinsTC (n.*29_*30delinsTC) n.2518_2519delinsTC n.440_441delinsTC n.314_315delinsTC c.190_191delinsTC (p.Asp64Ser) | |
14 | g.90404481_90404482delinsTG | CA2579771357 | CALM1 | c.388_389delinsTG (p.Asp130Cys) c.280_281delinsTG (p.Asp94Cys) c.391_392delinsTG (p.Asp131Cys) c.260_261delinsTG (n.260_261delinsTG) c.*29_*30delinsTG (n.*29_*30delinsTG) n.2518_2519delinsTG n.440_441delinsTG n.314_315delinsTG c.190_191delinsTG (p.Asp64Cys) | |
14 | g.90404481_90404482delinsTT | CA2579772433 | CALM1 | c.388_389delinsTT (p.Asp130Phe) c.280_281delinsTT (p.Asp94Phe) c.391_392delinsTT (p.Asp131Phe) c.260_261delinsTT (n.260_261delinsTT) c.*29_*30delinsTT (n.*29_*30delinsTT) n.2518_2519delinsTT n.440_441delinsTT n.314_315delinsTT c.190_191delinsTT (p.Asp64Phe) | |
14 | g.90404481_90404483delinsAAA | CA2579770033 | CALM1 | c.388_390delinsAAA (p.Asp130Lys) c.280_282delinsAAA (p.Asp94Lys) c.391_393delinsAAA (p.Asp131Lys) c.260_262delinsAAA (n.260_262delinsAAA) c.*29_*31delinsAAA (n.*29_*31delinsAAA) n.2518_2520delinsAAA n.440_442delinsAAA n.314_316delinsAAA c.190_192delinsAAA (p.Asp64Lys) | |
14 | g.90404481_90404483delinsAAC | CA2579774176 | CALM1 | c.388_390delinsAAC (p.Asp130Asn) c.280_282delinsAAC (p.Asp94Asn) c.391_393delinsAAC (p.Asp131Asn) c.260_262delinsAAC (n.260_262delinsAAC) c.*29_*31delinsAAC (n.*29_*31delinsAAC) n.2518_2520delinsAAC n.440_442delinsAAC n.314_316delinsAAC c.190_192delinsAAC (p.Asp64Asn) | |
14 | g.90404481_90404483delinsAAG | CA2579771535 | CALM1 | c.388_390delinsAAG (p.Asp130Lys) c.280_282delinsAAG (p.Asp94Lys) c.391_393delinsAAG (p.Asp131Lys) c.260_262delinsAAG (n.260_262delinsAAG) c.*29_*31delinsAAG (n.*29_*31delinsAAG) n.2518_2520delinsAAG n.440_442delinsAAG n.314_316delinsAAG c.190_192delinsAAG (p.Asp64Lys) | |
14 | g.90404481_90404483delinsAGG | CA2579771667 | CALM1 | c.388_390delinsAGG (p.Asp130Arg) c.280_282delinsAGG (p.Asp94Arg) c.391_393delinsAGG (p.Asp131Arg) c.260_262delinsAGG (n.260_262delinsAGG) c.*29_*31delinsAGG (n.*29_*31delinsAGG) n.2518_2520delinsAGG n.440_442delinsAGG n.314_316delinsAGG c.190_192delinsAGG (p.Asp64Arg) | |
14 | g.90404481_90404483delinsCAA | CA2579773771 | CALM1 | c.388_390delinsCAA (p.Asp130Gln) c.280_282delinsCAA (p.Asp94Gln) c.391_393delinsCAA (p.Asp131Gln) c.260_262delinsCAA (n.260_262delinsCAA) c.*29_*31delinsCAA (n.*29_*31delinsCAA) n.2518_2520delinsCAA n.440_442delinsCAA n.314_316delinsCAA c.190_192delinsCAA (p.Asp64Gln) | |
14 | g.90404481_90404483delinsCAG | CA2579770727 | CALM1 | c.388_390delinsCAG (p.Asp130Gln) c.280_282delinsCAG (p.Asp94Gln) c.391_393delinsCAG (p.Asp131Gln) c.260_262delinsCAG (n.260_262delinsCAG) c.*29_*31delinsCAG (n.*29_*31delinsCAG) n.2518_2520delinsCAG n.440_442delinsCAG n.314_316delinsCAG c.190_192delinsCAG (p.Asp64Gln) | |
14 | g.90404481_90404483delinsCCG | CA2579769874 | CALM1 | c.388_390delinsCCG (p.Asp130Pro) c.280_282delinsCCG (p.Asp94Pro) c.391_393delinsCCG (p.Asp131Pro) c.260_262delinsCCG (n.260_262delinsCCG) c.*29_*31delinsCCG (n.*29_*31delinsCCG) n.2518_2520delinsCCG n.440_442delinsCCG n.314_316delinsCCG c.190_192delinsCCG (p.Asp64Pro) | |
14 | g.90404481_90404483delinsCGG | CA2579769888 | CALM1 | c.388_390delinsCGG (p.Asp130Arg) c.280_282delinsCGG (p.Asp94Arg) c.391_393delinsCGG (p.Asp131Arg) c.260_262delinsCGG (n.260_262delinsCGG) c.*29_*31delinsCGG (n.*29_*31delinsCGG) n.2518_2520delinsCGG n.440_442delinsCGG n.314_316delinsCGG c.190_192delinsCGG (p.Asp64Arg) | |
14 | g.90404481_90404483delinsCTG | CA2579774105 | CALM1 | c.388_390delinsCTG (p.Asp130Leu) c.280_282delinsCTG (p.Asp94Leu) c.391_393delinsCTG (p.Asp131Leu) c.260_262delinsCTG (n.260_262delinsCTG) c.*29_*31delinsCTG (n.*29_*31delinsCTG) n.2518_2520delinsCTG n.440_442delinsCTG n.314_316delinsCTG c.190_192delinsCTG (p.Asp64Leu) | |
14 | g.90404481_90404483delinsTAA | CA2579770590 | CALM1 | c.388_390delinsTAA (p.Asp130Ter) c.280_282delinsTAA (p.Asp94Ter) c.391_393delinsTAA (p.Asp131Ter) c.260_262delinsTAA (n.260_262delinsTAA) c.*29_*31delinsTAA (n.*29_*31delinsTAA) n.2518_2520delinsTAA n.440_442delinsTAA n.314_316delinsTAA c.190_192delinsTAA (p.Asp64Ter) | |
14 | g.90404481_90404483delinsTAC | CA2579773696 | CALM1 | c.388_390delinsTAC (p.Asp130Tyr) c.280_282delinsTAC (p.Asp94Tyr) c.391_393delinsTAC (p.Asp131Tyr) c.260_262delinsTAC (n.260_262delinsTAC) c.*29_*31delinsTAC (n.*29_*31delinsTAC) n.2518_2520delinsTAC n.440_442delinsTAC n.314_316delinsTAC c.190_192delinsTAC (p.Asp64Tyr) | |
14 | g.90404481_90404483delinsTAG | CA2579772513 | CALM1 | c.388_390delinsTAG (p.Asp130Ter) c.280_282delinsTAG (p.Asp94Ter) c.391_393delinsTAG (p.Asp131Ter) c.260_262delinsTAG (n.260_262delinsTAG) c.*29_*31delinsTAG (n.*29_*31delinsTAG) n.2518_2520delinsTAG n.440_442delinsTAG n.314_316delinsTAG c.190_192delinsTAG (p.Asp64Ter) | |
14 | g.90404481_90404483delinsTCG | CA2579773664 | CALM1 | c.388_390delinsTCG (p.Asp130Ser) c.280_282delinsTCG (p.Asp94Ser) c.391_393delinsTCG (p.Asp131Ser) c.260_262delinsTCG (n.260_262delinsTCG) c.*29_*31delinsTCG (n.*29_*31delinsTCG) n.2518_2520delinsTCG n.440_442delinsTCG n.314_316delinsTCG c.190_192delinsTCG (p.Asp64Ser) | |
14 | g.90404481_90404483delinsTGG | CA2579773975 | CALM1 | c.388_390delinsTGG (p.Asp130Trp) c.280_282delinsTGG (p.Asp94Trp) c.391_393delinsTGG (p.Asp131Trp) c.260_262delinsTGG (n.260_262delinsTGG) c.*29_*31delinsTGG (n.*29_*31delinsTGG) n.2518_2520delinsTGG n.440_442delinsTGG n.314_316delinsTGG c.190_192delinsTGG (p.Asp64Trp) | |
14 | g.90404481_90404483delinsTTG | CA2579770992 | CALM1 | c.388_390delinsTTG (p.Asp130Leu) c.280_282delinsTTG (p.Asp94Leu) c.391_393delinsTTG (p.Asp131Leu) c.260_262delinsTTG (n.260_262delinsTTG) c.*29_*31delinsTTG (n.*29_*31delinsTTG) n.2518_2520delinsTTG n.440_442delinsTTG n.314_316delinsTTG c.190_192delinsTTG (p.Asp64Leu) | |
14 | g.90404482A= | CA2154484156 | CALM1 | c.389A= (p.Asp130=) c.281A= (p.Asp94=) c.392A= (p.Asp131=) c.261A= (n.261A=) c.*30A= (n.*30A=) n.2519A= n.441A= n.315A= c.191A= (p.Asp64=) | |
14 | g.90404482A>C | CA390690341 | CALM1 | c.389A>C (p.Asp130Ala) c.281A>C (p.Asp94Ala) c.392A>C (p.Asp131Ala) c.261A>C (n.261A>C) c.*30A>C (n.*30A>C) n.2519A>C n.441A>C n.315A>C c.191A>C (p.Asp64Ala) | |
14 | g.90404482A>G | CA186013 | CALM1 | c.389A>G (p.Asp130Gly) c.281A>G (p.Asp94Gly) c.392A>G (p.Asp131Gly) c.261A>G (n.261A>G) c.*30A>G (n.*30A>G) n.2519A>G n.441A>G n.315A>G c.191A>G (p.Asp64Gly) | ClinVar dbSNP |
14 | g.90404482A>T | CA390690342 | CALM1 | c.389A>T (p.Asp130Val) c.281A>T (p.Asp94Val) c.392A>T (p.Asp131Val) c.261A>T (n.261A>T) c.*30A>T (n.*30A>T) n.2519A>T n.441A>T n.315A>T c.191A>T (p.Asp64Val) | |
14 | g.90404482_90404483delinsCG | CA2579773670 | CALM1 | c.389_390delinsCG (p.Asp130Ala) c.281_282delinsCG (p.Asp94Ala) c.392_393delinsCG (p.Asp131Ala) c.261_262delinsCG (n.261_262delinsCG) c.*30_*31delinsCG (n.*30_*31delinsCG) n.2519_2520delinsCG n.441_442delinsCG n.315_316delinsCG c.191_192delinsCG (p.Asp64Ala) | |
14 | g.90404482_90404483delinsGA | CA2579770790 | CALM1 | c.389_390delinsGA (p.Asp130Gly) c.281_282delinsGA (p.Asp94Gly) c.392_393delinsGA (p.Asp131Gly) c.261_262delinsGA (n.261_262delinsGA) c.*30_*31delinsGA (n.*30_*31delinsGA) n.2519_2520delinsGA n.441_442delinsGA n.315_316delinsGA c.191_192delinsGA (p.Asp64Gly) | |
14 | g.90404482_90404483delinsGC | CA2579772655 | CALM1 | c.389_390delinsGC (p.Asp130Gly) c.281_282delinsGC (p.Asp94Gly) c.392_393delinsGC (p.Asp131Gly) c.261_262delinsGC (n.261_262delinsGC) c.*30_*31delinsGC (n.*30_*31delinsGC) n.2519_2520delinsGC n.441_442delinsGC n.315_316delinsGC c.191_192delinsGC (p.Asp64Gly) | |
14 | g.90404482_90404483delinsGG | CA2579773211 | CALM1 | c.389_390delinsGG (p.Asp130Gly) c.281_282delinsGG (p.Asp94Gly) c.392_393delinsGG (p.Asp131Gly) c.261_262delinsGG (n.261_262delinsGG) c.*30_*31delinsGG (n.*30_*31delinsGG) n.2519_2520delinsGG n.441_442delinsGG n.315_316delinsGG c.191_192delinsGG (p.Asp64Gly) | |
14 | g.90404482_90404483delinsTA | CA2579772970 | CALM1 | c.389_390delinsTA (p.Asp130Val) c.281_282delinsTA (p.Asp94Val) c.392_393delinsTA (p.Asp131Val) c.261_262delinsTA (n.261_262delinsTA) c.*30_*31delinsTA (n.*30_*31delinsTA) n.2519_2520delinsTA n.441_442delinsTA n.315_316delinsTA c.191_192delinsTA (p.Asp64Val) | |
14 | g.90404482_90404483delinsTC | CA2579773674 | CALM1 | c.389_390delinsTC (p.Asp130Val) c.281_282delinsTC (p.Asp94Val) c.392_393delinsTC (p.Asp131Val) c.261_262delinsTC (n.261_262delinsTC) c.*30_*31delinsTC (n.*30_*31delinsTC) n.2519_2520delinsTC n.441_442delinsTC n.315_316delinsTC c.191_192delinsTC (p.Asp64Val) | |
14 | g.90404482_90404483delinsTG | CA2579773932 | CALM1 | c.389_390delinsTG (p.Asp130Val) c.281_282delinsTG (p.Asp94Val) c.392_393delinsTG (p.Asp131Val) c.261_262delinsTG (n.261_262delinsTG) c.*30_*31delinsTG (n.*30_*31delinsTG) n.2519_2520delinsTG n.441_442delinsTG n.315_316delinsTG c.191_192delinsTG (p.Asp64Val) |