Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.88643339_88643372del | CA2695223831 | CYBA | c.487_*16del (n.[c.487_*16del;Thr163ProfsTer?]) c.*788_*821del (n.*788_*821del) c.*825_*858del (n.*825_*858del) c.*494_*527del (n.*494_*527del) c.598_*16del (n.[c.598_*16del;Thr200ProfsTer?]) c.701_734del (p.Asp234AlafsTer?) c.*1290_*1323del (n.*1290_*1323del) c.520_*16del (n.[c.520_*16del;Thr174ProfsTer?]) c.571_*16del (n.[c.571_*16del;Thr191ProfsTer?]) | |
16 | g.88643339_88643341del | CA2634847731 | CYBA | c.*12_*14del (n.*12_*14del) c.*817_*819del (n.*817_*819del) c.*854_*856del (n.*854_*856del) c.*523_*525del (n.*523_*525del) c.730_732del (p.Thr244del) c.*1319_*1321del (n.*1319_*1321del) | gnomAD v4 |
16 | g.88643341T>A | CA2634847734 | CYBA | c.*12A>T (n.*12A>T) c.*817A>T (n.*817A>T) c.*854A>T (n.*854A>T) c.*523A>T (n.*523A>T) c.730A>T (p.Thr244Ser) c.*1319A>T (n.*1319A>T) | gnomAD v4 |
16 | g.88643341T>C | CA2634847735 | CYBA | c.*12A>G (n.*12A>G) c.*817A>G (n.*817A>G) c.*854A>G (n.*854A>G) c.*523A>G (n.*523A>G) c.730A>G (p.Thr244Ala) c.*1319A>G (n.*1319A>G) | gnomAD v4 |
16 | g.88643342C>A | CA2634847737 | CYBA | c.*11G>T (n.*11G>T) c.*816G>T (n.*816G>T) c.*853G>T (n.*853G>T) c.*522G>T (n.*522G>T) c.729G>T (p.Arg243=) c.*1318G>T (n.*1318G>T) | gnomAD v4 |
16 | g.88643342C= | CA2241199561 | CYBA | c.*11G= (n.*11G=) c.*816G= (n.*816G=) c.*853G= (n.*853G=) c.*522G= (n.*522G=) c.729G= (p.Arg243=) c.*1318G= (n.*1318G=) | |
16 | g.88643342C>G | CA2838245609 | CYBA | c.*11G>C (n.*11G>C) c.*816G>C (n.*816G>C) c.*853G>C (n.*853G>C) c.*522G>C (n.*522G>C) c.729G>C (p.Arg243=) c.*1318G>C (n.*1318G>C) | |
16 | g.88643342C>T | CA624448017 | CYBA | c.*11G>A (n.*11G>A) c.*816G>A (n.*816G>A) c.*853G>A (n.*853G>A) c.*522G>A (n.*522G>A) c.729G>A (p.Arg243=) c.*1318G>A (n.*1318G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643343del | CA2634847736 | CYBA | c.*11del (n.*11del) c.*816del (n.*816del) c.*853del (n.*853del) c.*522del (n.*522del) c.729del (p.Thr244ProfsTer?) c.*1318del (n.*1318del) | gnomAD v4 |
16 | g.88643342_88643344del | CA2576090794 | CYBA | c.*9_*11del (n.*9_*11del) c.*814_*816del (n.*814_*816del) c.*851_*853del (n.*851_*853del) c.*520_*522del (n.*520_*522del) c.727_729del (p.Arg243del) c.*1316_*1318del (n.*1316_*1318del) | |
16 | g.88643343C>A | CA624448018 | CYBA | c.*10G>T (n.*10G>T) c.*815G>T (n.*815G>T) c.*852G>T (n.*852G>T) c.*521G>T (n.*521G>T) c.728G>T (p.Arg243Leu) c.*1317G>T (n.*1317G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643343C= | CA2241199564 | CYBA | c.*10G= (n.*10G=) c.*815G= (n.*815G=) c.*852G= (n.*852G=) c.*521G= (n.*521G=) c.728G= (p.Arg243=) c.*1317G= (n.*1317G=) | |
16 | g.88643343C>G | CA2565084440 | CYBA | c.*10G>C (n.*10G>C) c.*815G>C (n.*815G>C) c.*852G>C (n.*852G>C) c.*521G>C (n.*521G>C) c.728G>C (p.Arg243Pro) c.*1317G>C (n.*1317G>C) | gnomAD v4 |
16 | g.88643343C>T | CA286348070 | CYBA | c.*10G>A (n.*10G>A) c.*815G>A (n.*815G>A) c.*852G>A (n.*852G>A) c.*521G>A (n.*521G>A) c.728G>A (p.Arg243Gln) c.*1317G>A (n.*1317G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643345_88643349del | CA2634847739 | CYBA | c.*6_*10del (n.*6_*10del) c.*811_*815del (n.*811_*815del) c.*848_*852del (n.*848_*852del) c.*517_*521del (n.*517_*521del) c.724_728del (p.Pro242AspfsTer?) c.*1313_*1317del (n.*1313_*1317del) | gnomAD v4 |
16 | g.88643343_88643344insA | CA2841294349 | CYBA | c.*9_*10insT (n.*9_*10insT) c.*814_*815insT (n.*814_*815insT) c.*851_*852insT (n.*851_*852insT) c.*520_*521insT (n.*520_*521insT) c.727_728insT (p.Arg243LeufsTer?) c.*1316_*1317insT (n.*1316_*1317insT) | |
16 | g.88643344G>A | CA8228161 | CYBA | c.*9C>T (n.*9C>T) c.*814C>T (n.*814C>T) c.*851C>T (n.*851C>T) c.*520C>T (n.*520C>T) c.727C>T (p.Arg243Trp) c.*1316C>T (n.*1316C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643344G>C | CA2576090795 | CYBA | c.*9C>G (n.*9C>G) c.*814C>G (n.*814C>G) c.*851C>G (n.*851C>G) c.*520C>G (n.*520C>G) c.727C>G (p.Arg243Gly) c.*1316C>G (n.*1316C>G) | gnomAD v4 |
16 | g.88643344G= | CA2241199567 | CYBA | c.*9C= (n.*9C=) c.*814C= (n.*814C=) c.*851C= (n.*851C=) c.*520C= (n.*520C=) c.727C= (p.Arg243=) c.*1316C= (n.*1316C=) | |
16 | g.88643344G>T | CA2241199568 | CYBA | c.*9C>A (n.*9C>A) c.*814C>A (n.*814C>A) c.*851C>A (n.*851C>A) c.*520C>A (n.*520C>A) c.727C>A (p.Arg243=) c.*1316C>A (n.*1316C>A) | dbSNP gnomAD v4 |
16 | g.88643347dup | CA2838200102 | CYBA | c.*9dup (n.*9dup) c.*814dup (n.*814dup) c.*851dup (n.*851dup) c.*520dup (n.*520dup) c.727dup (p.Arg243ProfsTer?) c.*1316dup (n.*1316dup) | |
16 | g.88643347del | CA2634847741 | CYBA | c.*9del (n.*9del) c.*814del (n.*814del) c.*851del (n.*851del) c.*520del (n.*520del) c.727del (p.Arg243GlyfsTer?) c.*1316del (n.*1316del) | gnomAD v4 |
16 | g.88643345G>A | CA2241199571 | CYBA | c.*8C>T (n.*8C>T) c.*813C>T (n.*813C>T) c.*850C>T (n.*850C>T) c.*519C>T (n.*519C>T) c.726C>T (p.Pro242=) c.*1315C>T (n.*1315C>T) | dbSNP gnomAD v4 |
16 | g.88643345G= | CA2241199570 | CYBA | c.*8C= (n.*8C=) c.*813C= (n.*813C=) c.*850C= (n.*850C=) c.*519C= (n.*519C=) c.726C= (p.Pro242=) c.*1315C= (n.*1315C=) | |
16 | g.88643345G>T | CA2634847743 | CYBA | c.*8C>A (n.*8C>A) c.*813C>A (n.*813C>A) c.*850C>A (n.*850C>A) c.*519C>A (n.*519C>A) c.726C>A (p.Pro242=) c.*1315C>A (n.*1315C>A) | gnomAD v4 |
16 | g.88643346G>A | CA8228162 | CYBA | c.*7C>T (n.*7C>T) c.*812C>T (n.*812C>T) c.*849C>T (n.*849C>T) c.*518C>T (n.*518C>T) c.725C>T (p.Pro242Leu) c.*1314C>T (n.*1314C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643346G>C | CA2634847747 | CYBA | c.*7C>G (n.*7C>G) c.*812C>G (n.*812C>G) c.*849C>G (n.*849C>G) c.*518C>G (n.*518C>G) c.725C>G (p.Pro242Arg) c.*1314C>G (n.*1314C>G) | gnomAD v4 |
16 | g.88643346G= | CA2241199573 | CYBA | c.*7C= (n.*7C=) c.*812C= (n.*812C=) c.*849C= (n.*849C=) c.*518C= (n.*518C=) c.725C= (p.Pro242=) c.*1314C= (n.*1314C=) | |
16 | g.88643346G>T | CA2634847745 | CYBA | c.*7C>A (n.*7C>A) c.*812C>A (n.*812C>A) c.*849C>A (n.*849C>A) c.*518C>A (n.*518C>A) c.725C>A (p.Pro242His) c.*1314C>A (n.*1314C>A) | gnomAD v4 |
16 | g.88643347G>A | CA2634847748 | CYBA | c.*6C>T (n.*6C>T) c.*811C>T (n.*811C>T) c.*848C>T (n.*848C>T) c.*517C>T (n.*517C>T) c.724C>T (p.Pro242Ser) c.*1313C>T (n.*1313C>T) | gnomAD v4 |
16 | g.88643347G= | CA2241199575 | CYBA | c.*6C= (n.*6C=) c.*811C= (n.*811C=) c.*848C= (n.*848C=) c.*517C= (n.*517C=) c.724C= (p.Pro242=) c.*1313C= (n.*1313C=) | |
16 | g.88643347G>T | CA286348096 | CYBA | c.*6C>A (n.*6C>A) c.*811C>A (n.*811C>A) c.*848C>A (n.*848C>A) c.*517C>A (n.*517C>A) c.724C>A (p.Pro242Thr) c.*1313C>A (n.*1313C>A) | dbSNP gnomAD v4 |
16 | g.88643348C>A | CA8228163 | CYBA | c.*5G>T (n.*5G>T) c.*810G>T (n.*810G>T) c.*847G>T (n.*847G>T) c.*516G>T (n.*516G>T) c.723G>T (p.Ser241=) c.*1312G>T (n.*1312G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643348C= | CA2241199578 | CYBA | c.*5G= (n.*5G=) c.*810G= (n.*810G=) c.*847G= (n.*847G=) c.*516G= (n.*516G=) c.723G= (p.Ser241=) c.*1312G= (n.*1312G=) | |
16 | g.88643348C>G | CA2634847752 | CYBA | c.*5G>C (n.*5G>C) c.*810G>C (n.*810G>C) c.*847G>C (n.*847G>C) c.*516G>C (n.*516G>C) c.723G>C (p.Ser241=) c.*1312G>C (n.*1312G>C) | gnomAD v4 |
16 | g.88643348C>T | CA286348107 | CYBA | c.*5G>A (n.*5G>A) c.*810G>A (n.*810G>A) c.*847G>A (n.*847G>A) c.*516G>A (n.*516G>A) c.723G>A (p.Ser241=) c.*1312G>A (n.*1312G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643348_88643349insT | CA656435633 | CYBA | c.*4_*5insA (n.*4_*5insA) c.*809_*810insA (n.*809_*810insA) c.*846_*847insA (n.*846_*847insA) c.*515_*516insA (n.*515_*516insA) c.722_723insA (p.Pro242AlafsTer?) c.*1311_*1312insA (n.*1311_*1312insA) | COSMIC |
16 | g.88643349G>A | CA8228164 | CYBA | c.*4C>T (n.*4C>T) c.*809C>T (n.*809C>T) c.*846C>T (n.*846C>T) c.*515C>T (n.*515C>T) c.722C>T (p.Ser241Leu) c.*1311C>T (n.*1311C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643349G>C | CA2634847756 | CYBA | c.*4C>G (n.*4C>G) c.*809C>G (n.*809C>G) c.*846C>G (n.*846C>G) c.*515C>G (n.*515C>G) c.722C>G (p.Ser241Trp) c.*1311C>G (n.*1311C>G) | gnomAD v4 |
16 | g.88643349G= | CA2241199582 | CYBA | c.*4C= (n.*4C=) c.*809C= (n.*809C=) c.*846C= (n.*846C=) c.*515C= (n.*515C=) c.722C= (p.Ser241=) c.*1311C= (n.*1311C=) | |
16 | g.88643349G>T | CA2634847757 | CYBA | c.*4C>A (n.*4C>A) c.*809C>A (n.*809C>A) c.*846C>A (n.*846C>A) c.*515C>A (n.*515C>A) c.722C>A (p.Ser241Ter) c.*1311C>A (n.*1311C>A) | gnomAD v4 |
16 | g.88643350A>C | CA2634847761 | CYBA | c.*3T>G (n.*3T>G) c.*808T>G (n.*808T>G) c.*845T>G (n.*845T>G) c.*514T>G (n.*514T>G) c.721T>G (p.Ser241Ala) c.*1310T>G (n.*1310T>G) | gnomAD v4 |
16 | g.88643350A>G | CA2634847762 | CYBA | c.*3T>C (n.*3T>C) c.*808T>C (n.*808T>C) c.*845T>C (n.*845T>C) c.*514T>C (n.*514T>C) c.721T>C (p.Ser241Pro) c.*1310T>C (n.*1310T>C) | gnomAD v4 |
16 | g.88643350_88643363del | CA624448021 | CYBA | c.494_*3del (n.[c.494_*3del;Glu165AlafsTer15]) c.*795_*808del (n.*795_*808del) c.*832_*845del (n.*832_*845del) c.*501_*514del (n.*501_*514del) c.605_*3del (n.[c.605_*3del;Glu202AlafsTer15]) c.708_721del (p.Gly237AlafsTer?) c.*1297_*1310del (n.*1297_*1310del) c.527_*3del (n.[c.527_*3del;Glu176AlafsTer15]) c.578_*3del (n.[c.578_*3del;Glu193AlafsTer15]) | gnomAD v2 gnomAD v4 |
16 | g.88643351G>A | CA286348108 | CYBA | c.*2C>T (n.*2C>T) c.*807C>T (n.*807C>T) c.*844C>T (n.*844C>T) c.*513C>T (n.*513C>T) c.720C>T (p.Thr240=) c.*1309C>T (n.*1309C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643351G>C | CA2576090796 | CYBA | c.*2C>G (n.*2C>G) c.*807C>G (n.*807C>G) c.*844C>G (n.*844C>G) c.*513C>G (n.*513C>G) c.720C>G (p.Thr240=) c.*1309C>G (n.*1309C>G) | |
16 | g.88643351G= | CA2241199583 | CYBA | c.*2C= (n.*2C=) c.*807C= (n.*807C=) c.*844C= (n.*844C=) c.*513C= (n.*513C=) c.720C= (p.Thr240=) c.*1309C= (n.*1309C=) | |
16 | g.88643351G>T | CA2634847766 | CYBA | c.*2C>A (n.*2C>A) c.*807C>A (n.*807C>A) c.*844C>A (n.*844C>A) c.*513C>A (n.*513C>A) c.720C>A (p.Thr240=) c.*1309C>A (n.*1309C>A) | gnomAD v4 |
16 | g.88643352G>A | CA624448022 | CYBA | c.*1C>T (n.*1C>T) c.*806C>T (n.*806C>T) c.*843C>T (n.*843C>T) c.*512C>T (n.*512C>T) c.719C>T (p.Thr240Ile) c.*1308C>T (n.*1308C>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643352G>C | CA624448023 | CYBA | c.*1C>G (n.*1C>G) c.*806C>G (n.*806C>G) c.*843C>G (n.*843C>G) c.*512C>G (n.*512C>G) c.719C>G (p.Thr240Ser) c.*1308C>G (n.*1308C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643352G= | CA2241199584 | CYBA | c.*1C= (n.*1C=) c.*806C= (n.*806C=) c.*843C= (n.*843C=) c.*512C= (n.*512C=) c.719C= (p.Thr240=) c.*1308C= (n.*1308C=) | |
16 | g.88643352G>T | CA2634847768 | CYBA | c.*1C>A (n.*1C>A) c.*806C>A (n.*806C>A) c.*843C>A (n.*843C>A) c.*512C>A (n.*512C>A) c.719C>A (p.Thr240Asn) c.*1308C>A (n.*1308C>A) | gnomAD v4 |
16 | g.88643353T>A | CA397056066 | CYBA | c.504A>T (p.Ter168Cys) c.*805A>T (n.*805A>T) c.*842A>T (n.*842A>T) c.*511A>T (n.*511A>T) c.615A>T (p.Ter205Cys) c.718A>T (p.Thr240Ser) c.*1307A>T (n.*1307A>T) c.537A>T (p.Ter179Cys) c.588A>T (p.Ter196Cys) | gnomAD v4 |
16 | g.88643353T>C | CA397056068 | CYBA | c.504A>G (p.Ter168Trp) c.*805A>G (n.*805A>G) c.*842A>G (n.*842A>G) c.*511A>G (n.*511A>G) c.615A>G (p.Ter205Trp) c.718A>G (p.Thr240Ala) c.*1307A>G (n.*1307A>G) c.537A>G (p.Ter179Trp) c.588A>G (p.Ter196Trp) | gnomAD v4 |
16 | g.88643353T>G | CA397056071 | CYBA | c.504A>C (p.Ter168Cys) c.*805A>C (n.*805A>C) c.*842A>C (n.*842A>C) c.*511A>C (n.*511A>C) c.615A>C (p.Ter205Cys) c.718A>C (p.Thr240Pro) c.*1307A>C (n.*1307A>C) c.537A>C (p.Ter179Cys) c.588A>C (p.Ter196Cys) | |
16 | g.88643354C>A | CA397056073 | CYBA | c.503G>T (p.Ter168Leu) c.*804G>T (n.*804G>T) c.*841G>T (n.*841G>T) c.*510G>T (n.*510G>T) c.614G>T (p.Ter205Leu) c.717G>T (p.Val239=) c.*1306G>T (n.*1306G>T) c.536G>T (p.Ter179Leu) c.587G>T (p.Ter196Leu) | gnomAD v4 |
16 | g.88643354C= | CA2241199585 | CYBA | c.503G= (p.Ter168=) c.*804G= (n.*804G=) c.*841G= (n.*841G=) c.*510G= (n.*510G=) c.614G= (p.Ter205=) c.717G= (p.Val239=) c.*1306G= (n.*1306G=) c.536G= (p.Ter179=) c.587G= (p.Ter196=) | |
16 | g.88643354C>G | CA397056074 | CYBA | c.503G>C (p.Ter168Ser) c.*804G>C (n.*804G>C) c.*841G>C (n.*841G>C) c.*510G>C (n.*510G>C) c.614G>C (p.Ter205Ser) c.717G>C (p.Val239=) c.*1306G>C (n.*1306G>C) c.536G>C (p.Ter179Ser) c.587G>C (p.Ter196Ser) | dbSNP |
16 | g.88643354C>T | CA497362059 | CYBA | c.503G>A (p.Ter168=) c.*804G>A (n.*804G>A) c.*841G>A (n.*841G>A) c.*510G>A (n.*510G>A) c.614G>A (p.Ter205=) c.717G>A (p.Val239=) c.*1306G>A (n.*1306G>A) c.536G>A (p.Ter179=) c.587G>A (p.Ter196=) | gnomAD v4 |
16 | g.88643357_88643358del | CA2576090797 | CYBA | c.502_503del (p.Ter168ThrextTer16) c.*803_*804del (n.*803_*804del) c.*840_*841del (n.*840_*841del) c.*509_*510del (n.*509_*510del) c.613_614del (p.Ter205ThrextTer16) c.716_717del (p.Val239AspfsTer?) c.*1305_*1306del (n.*1305_*1306del) c.535_536del (p.Ter179ThrextTer16) c.586_587del (p.Ter196ThrextTer16) | gnomAD v4 |
16 | g.88643354_88643355insT | CA2634847778 | CYBA | c.502_503insA (p.Ter168=) c.*803_*804insA (n.*803_*804insA) c.*840_*841insA (n.*840_*841insA) c.*509_*510insA (n.*509_*510insA) c.613_614insA (p.Ter205=) c.716_717insA (p.Thr240AspfsTer?) c.*1305_*1306insA (n.*1305_*1306insA) c.535_536insA (p.Ter179=) c.586_587insA (p.Ter196=) | gnomAD v4 |
16 | g.88643355A>C | CA397056075 | CYBA | c.502T>G (p.Ter168Gly) c.*803T>G (n.*803T>G) c.*840T>G (n.*840T>G) c.*509T>G (n.*509T>G) c.613T>G (p.Ter205Gly) c.716T>G (p.Val239Gly) c.*1305T>G (n.*1305T>G) c.535T>G (p.Ter179Gly) c.586T>G (p.Ter196Gly) | |
16 | g.88643355A>G | CA397056077 | CYBA | c.502T>C (p.Ter168Arg) c.*803T>C (n.*803T>C) c.*840T>C (n.*840T>C) c.*509T>C (n.*509T>C) c.613T>C (p.Ter205Arg) c.716T>C (p.Val239Ala) c.*1305T>C (n.*1305T>C) c.535T>C (p.Ter179Arg) c.586T>C (p.Ter196Arg) | gnomAD v4 COSMIC |
16 | g.88643355A>T | CA397056081 | CYBA | c.502T>A (p.Ter168Arg) c.*803T>A (n.*803T>A) c.*840T>A (n.*840T>A) c.*509T>A (n.*509T>A) c.613T>A (p.Ter205Arg) c.716T>A (p.Val239Glu) c.*1305T>A (n.*1305T>A) c.535T>A (p.Ter179Arg) c.586T>A (p.Ter196Arg) | |
16 | g.88643356C>A | CA497362062 | CYBA | c.501G>T (p.Val167=) c.*802G>T (n.*802G>T) c.*839G>T (n.*839G>T) c.*508G>T (n.*508G>T) c.612G>T (p.Val204=) c.715G>T (p.Val239Leu) c.*1304G>T (n.*1304G>T) c.534G>T (p.Val178=) c.585G>T (p.Val195=) | gnomAD v4 |
16 | g.88643356C>G | CA497362061 | CYBA | c.501G>C (p.Val167=) c.*802G>C (n.*802G>C) c.*839G>C (n.*839G>C) c.*508G>C (n.*508G>C) c.612G>C (p.Val204=) c.715G>C (p.Val239Leu) c.*1304G>C (n.*1304G>C) c.534G>C (p.Val178=) c.585G>C (p.Val195=) | gnomAD v4 |
16 | g.88643356C>T | CA497362060 | CYBA | c.501G>A (p.Val167=) c.*802G>A (n.*802G>A) c.*839G>A (n.*839G>A) c.*508G>A (n.*508G>A) c.612G>A (p.Val204=) c.715G>A (p.Val239Met) c.*1304G>A (n.*1304G>A) c.534G>A (p.Val178=) c.585G>A (p.Val195=) | gnomAD v4 |
16 | g.88643357A>C | CA397056089 | CYBA | c.500T>G (p.Val167Gly) c.*801T>G (n.*801T>G) c.*838T>G (n.*838T>G) c.*507T>G (n.*507T>G) c.611T>G (p.Val204Gly) c.714T>G (p.Arg238=) c.*1303T>G (n.*1303T>G) c.533T>G (p.Val178Gly) c.584T>G (p.Val195Gly) | gnomAD v4 |
16 | g.88643357A>G | CA397056088 | CYBA | c.500T>C (p.Val167Ala) c.*801T>C (n.*801T>C) c.*838T>C (n.*838T>C) c.*507T>C (n.*507T>C) c.611T>C (p.Val204Ala) c.714T>C (p.Arg238=) c.*1303T>C (n.*1303T>C) c.533T>C (p.Val178Ala) c.584T>C (p.Val195Ala) | gnomAD v4 |
16 | g.88643357A>T | CA397056086 | CYBA | c.500T>A (p.Val167Glu) c.*801T>A (n.*801T>A) c.*838T>A (n.*838T>A) c.*507T>A (n.*507T>A) c.611T>A (p.Val204Glu) c.714T>A (p.Arg238=) c.*1303T>A (n.*1303T>A) c.533T>A (p.Val178Glu) c.584T>A (p.Val195Glu) | |
16 | g.88643357_88643358delinsAC | CA2241199586 | CYBA | c.499_500delinsGT (p.Val167=) c.*800_*801delinsGT (n.*800_*801delinsGT) c.*837_*838delinsGT (n.*837_*838delinsGT) c.*506_*507delinsGT (n.*506_*507delinsGT) c.610_611delinsGT (p.Val204=) c.713_714delinsGT (p.Arg238=) c.*1302_*1303delinsGT (n.*1302_*1303delinsGT) c.532_533delinsGT (p.Val178=) c.583_584delinsGT (p.Val195=) | |
16 | g.88643358del | CA2241199587 | CYBA | c.499del (p.Val167CysfsTer?) c.*800del (n.*800del) c.*837del (n.*837del) c.*506del (n.*506del) c.610del (p.Val204CysfsTer?) c.713del (p.Arg238LeufsTer2) c.*1302del (n.*1302del) c.532del (p.Val178CysfsTer?) c.583del (p.Val195CysfsTer?) | dbSNP |
16 | g.88643358C>A | CA397056095 | CYBA | c.499G>T (p.Val167Leu) c.*800G>T (n.*800G>T) c.*837G>T (n.*837G>T) c.*506G>T (n.*506G>T) c.610G>T (p.Val204Leu) c.713G>T (p.Arg238Leu) c.*1302G>T (n.*1302G>T) c.532G>T (p.Val178Leu) c.583G>T (p.Val195Leu) | gnomAD v4 |
16 | g.88643358C= | CA2241199588 | CYBA | c.499G= (p.Val167=) c.*800G= (n.*800G=) c.*837G= (n.*837G=) c.*506G= (n.*506G=) c.610G= (p.Val204=) c.713G= (p.Arg238=) c.*1302G= (n.*1302G=) c.532G= (p.Val178=) c.583G= (p.Val195=) | |
16 | g.88643358C>G | CA397056100 | CYBA | c.499G>C (p.Val167Leu) c.*800G>C (n.*800G>C) c.*837G>C (n.*837G>C) c.*506G>C (n.*506G>C) c.610G>C (p.Val204Leu) c.713G>C (p.Arg238Pro) c.*1302G>C (n.*1302G>C) c.532G>C (p.Val178Leu) c.583G>C (p.Val195Leu) | dbSNP gnomAD v4 |
16 | g.88643358C>T | CA8228165 | CYBA | c.499G>A (p.Val167Met) c.*800G>A (n.*800G>A) c.*837G>A (n.*837G>A) c.*506G>A (n.*506G>A) c.610G>A (p.Val204Met) c.713G>A (p.Arg238His) c.*1302G>A (n.*1302G>A) c.532G>A (p.Val178Met) c.583G>A (p.Val195Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643358_88643359insATCA | CA2634847787 | CYBA | c.498_499insTGAT (p.Val167Ter) c.*799_*800insTGAT (n.*799_*800insTGAT) c.*836_*837insTGAT (n.*836_*837insTGAT) c.*505_*506insTGAT (n.*505_*506insTGAT) c.609_610insTGAT (p.Val204Ter) c.712_713insTGAT (p.Arg238LeufsTer?) c.*1301_*1302insTGAT (n.*1301_*1302insTGAT) c.531_532insTGAT (p.Val178Ter) c.582_583insTGAT (p.Val195Ter) | gnomAD v4 |
16 | g.88643359G>A | CA286348109 | CYBA | c.498C>T (p.Val166=) c.*799C>T (n.*799C>T) c.*836C>T (n.*836C>T) c.*505C>T (n.*505C>T) c.609C>T (p.Val203=) c.712C>T (p.Arg238Cys) c.*1301C>T (n.*1301C>T) c.531C>T (p.Val177=) c.582C>T (p.Val194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643359G>C | CA497362064 | CYBA | c.498C>G (p.Val166=) c.*799C>G (n.*799C>G) c.*836C>G (n.*836C>G) c.*505C>G (n.*505C>G) c.609C>G (p.Val203=) c.712C>G (p.Arg238Gly) c.*1301C>G (n.*1301C>G) c.531C>G (p.Val177=) c.582C>G (p.Val194=) | |
16 | g.88643359G= | CA2241199589 | CYBA | c.498C= (p.Val166=) c.*799C= (n.*799C=) c.*836C= (n.*836C=) c.*505C= (n.*505C=) c.609C= (p.Val203=) c.712C= (p.Arg238=) c.*1301C= (n.*1301C=) c.531C= (p.Val177=) c.582C= (p.Val194=) | |
16 | g.88643359G>T | CA497362063 | CYBA | c.498C>A (p.Val166=) c.*799C>A (n.*799C>A) c.*836C>A (n.*836C>A) c.*505C>A (n.*505C>A) c.609C>A (p.Val203=) c.712C>A (p.Arg238Ser) c.*1301C>A (n.*1301C>A) c.531C>A (p.Val177=) c.582C>A (p.Val194=) | gnomAD v4 |
16 | g.88643360A= | CA2241199590 | CYBA | c.497T= (p.Val166=) c.*798T= (n.*798T=) c.*835T= (n.*835T=) c.*504T= (n.*504T=) c.608T= (p.Val203=) c.711T= (p.Gly237=) c.*1300T= (n.*1300T=) c.530T= (p.Val177=) c.581T= (p.Val194=) | |
16 | g.88643360A>C | CA397056114 | CYBA | c.497T>G (p.Val166Gly) c.*798T>G (n.*798T>G) c.*835T>G (n.*835T>G) c.*504T>G (n.*504T>G) c.608T>G (p.Val203Gly) c.711T>G (p.Gly237=) c.*1300T>G (n.*1300T>G) c.530T>G (p.Val177Gly) c.581T>G (p.Val194Gly) | |
16 | g.88643360A>G | CA397056117 | CYBA | c.497T>C (p.Val166Ala) c.*798T>C (n.*798T>C) c.*835T>C (n.*835T>C) c.*504T>C (n.*504T>C) c.608T>C (p.Val203Ala) c.711T>C (p.Gly237=) c.*1300T>C (n.*1300T>C) c.530T>C (p.Val177Ala) c.581T>C (p.Val194Ala) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643360A>T | CA397056120 | CYBA | c.497T>A (p.Val166Asp) c.*798T>A (n.*798T>A) c.*835T>A (n.*835T>A) c.*504T>A (n.*504T>A) c.608T>A (p.Val203Asp) c.711T>A (p.Gly237=) c.*1300T>A (n.*1300T>A) c.530T>A (p.Val177Asp) c.581T>A (p.Val194Asp) | |
16 | g.88643361C>A | CA397056125 | CYBA | c.496G>T (p.Val166Phe) c.*797G>T (n.*797G>T) c.*834G>T (n.*834G>T) c.*503G>T (n.*503G>T) c.607G>T (p.Val203Phe) c.710G>T (p.Gly237Val) c.*1299G>T (n.*1299G>T) c.529G>T (p.Val177Phe) c.580G>T (p.Val194Phe) | gnomAD v4 |
16 | g.88643361C>G | CA397056130 | CYBA | c.496G>C (p.Val166Leu) c.*797G>C (n.*797G>C) c.*834G>C (n.*834G>C) c.*503G>C (n.*503G>C) c.607G>C (p.Val203Leu) c.710G>C (p.Gly237Ala) c.*1299G>C (n.*1299G>C) c.529G>C (p.Val177Leu) c.580G>C (p.Val194Leu) | |
16 | g.88643361C>T | CA397056132 | CYBA | c.496G>A (p.Val166Ile) c.*797G>A (n.*797G>A) c.*834G>A (n.*834G>A) c.*503G>A (n.*503G>A) c.607G>A (p.Val203Ile) c.710G>A (p.Gly237Asp) c.*1299G>A (n.*1299G>A) c.529G>A (p.Val177Ile) c.580G>A (p.Val194Ile) | gnomAD v4 |
16 | g.88643362C>A | CA286348111 | CYBA | c.495G>T (p.Glu165Asp) c.*796G>T (n.*796G>T) c.*833G>T (n.*833G>T) c.*502G>T (n.*502G>T) c.606G>T (p.Glu202Asp) c.709G>T (p.Gly237Cys) c.*1298G>T (n.*1298G>T) c.528G>T (p.Glu176Asp) c.579G>T (p.Glu193Asp) | gnomAD v4 |
16 | g.88643362C= | CA2241199591 | CYBA | c.495G= (p.Glu165=) c.*796G= (n.*796G=) c.*833G= (n.*833G=) c.*502G= (n.*502G=) c.606G= (p.Glu202=) c.709G= (p.Gly237=) c.*1298G= (n.*1298G=) c.528G= (p.Glu176=) c.579G= (p.Glu193=) | |
16 | g.88643362C>G | CA397056136 | CYBA | c.495G>C (p.Glu165Asp) c.*796G>C (n.*796G>C) c.*833G>C (n.*833G>C) c.*502G>C (n.*502G>C) c.606G>C (p.Glu202Asp) c.709G>C (p.Gly237Arg) c.*1298G>C (n.*1298G>C) c.528G>C (p.Glu176Asp) c.579G>C (p.Glu193Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643362C>T | CA497362065 | CYBA | c.495G>A (p.Glu165=) c.*796G>A (n.*796G>A) c.*833G>A (n.*833G>A) c.*502G>A (n.*502G>A) c.606G>A (p.Glu202=) c.709G>A (p.Gly237Ser) c.*1298G>A (n.*1298G>A) c.528G>A (p.Glu176=) c.579G>A (p.Glu193=) | gnomAD v4 |
16 | g.88643363T>A | CA397056139 | CYBA | c.494A>T (p.Glu165Val) c.*795A>T (n.*795A>T) c.*832A>T (n.*832A>T) c.*501A>T (n.*501A>T) c.605A>T (p.Glu202Val) c.708A>T (p.Arg236=) c.*1297A>T (n.*1297A>T) c.527A>T (p.Glu176Val) c.578A>T (p.Glu193Val) | gnomAD v4 |
16 | g.88643363T>C | CA397056141 | CYBA | c.494A>G (p.Glu165Gly) c.*795A>G (n.*795A>G) c.*832A>G (n.*832A>G) c.*501A>G (n.*501A>G) c.605A>G (p.Glu202Gly) c.708A>G (p.Arg236=) c.*1297A>G (n.*1297A>G) c.527A>G (p.Glu176Gly) c.578A>G (p.Glu193Gly) | gnomAD v4 |
16 | g.88643363T>G | CA397056147 | CYBA | c.494A>C (p.Glu165Ala) c.*795A>C (n.*795A>C) c.*832A>C (n.*832A>C) c.*501A>C (n.*501A>C) c.605A>C (p.Glu202Ala) c.708A>C (p.Arg236=) c.*1297A>C (n.*1297A>C) c.527A>C (p.Glu176Ala) c.578A>C (p.Glu193Ala) | |
16 | g.88643364C>A | CA397056149 | CYBA | c.493G>T (p.Glu165Ter) c.*794G>T (n.*794G>T) c.*831G>T (n.*831G>T) c.*500G>T (n.*500G>T) c.604G>T (p.Glu202Ter) c.707G>T (p.Arg236Leu) c.*1296G>T (n.*1296G>T) c.526G>T (p.Glu176Ter) c.577G>T (p.Glu193Ter) | gnomAD v4 |
16 | g.88643364C= | CA2241199592 | CYBA | c.493G= (p.Glu165=) c.*794G= (n.*794G=) c.*831G= (n.*831G=) c.*500G= (n.*500G=) c.604G= (p.Glu202=) c.707G= (p.Arg236=) c.*1296G= (n.*1296G=) c.526G= (p.Glu176=) c.577G= (p.Glu193=) | |
16 | g.88643364C>G | CA397056152 | CYBA | c.493G>C (p.Glu165Gln) c.*794G>C (n.*794G>C) c.*831G>C (n.*831G>C) c.*500G>C (n.*500G>C) c.604G>C (p.Glu202Gln) c.707G>C (p.Arg236Pro) c.*1296G>C (n.*1296G>C) c.526G>C (p.Glu176Gln) c.577G>C (p.Glu193Gln) | |
16 | g.88643364C>T | CA8228166 | CYBA | c.493G>A (p.Glu165Lys) c.*794G>A (n.*794G>A) c.*831G>A (n.*831G>A) c.*500G>A (n.*500G>A) c.604G>A (p.Glu202Lys) c.707G>A (p.Arg236Gln) c.*1296G>A (n.*1296G>A) c.526G>A (p.Glu176Lys) c.577G>A (p.Glu193Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643365G>A | CA8228167 | CYBA | c.492C>T (p.Asp164=) c.*793C>T (n.*793C>T) c.*830C>T (n.*830C>T) c.*499C>T (n.*499C>T) c.603C>T (p.Asp201=) c.706C>T (p.Arg236Ter) c.*1295C>T (n.*1295C>T) c.525C>T (p.Asp175=) c.576C>T (p.Asp192=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643365G>C | CA397056153 | CYBA | c.492C>G (p.Asp164Glu) c.*793C>G (n.*793C>G) c.*830C>G (n.*830C>G) c.*499C>G (n.*499C>G) c.603C>G (p.Asp201Glu) c.706C>G (p.Arg236Gly) c.*1295C>G (n.*1295C>G) c.525C>G (p.Asp175Glu) c.576C>G (p.Asp192Glu) | gnomAD v4 |
16 | g.88643365G= | CA2241199593 | CYBA | c.492C= (p.Asp164=) c.*793C= (n.*793C=) c.*830C= (n.*830C=) c.*499C= (n.*499C=) c.603C= (p.Asp201=) c.706C= (p.Arg236=) c.*1295C= (n.*1295C=) c.525C= (p.Asp175=) c.576C= (p.Asp192=) | |
16 | g.88643365G>T | CA397056157 | CYBA | c.492C>A (p.Asp164Glu) c.*793C>A (n.*793C>A) c.*830C>A (n.*830C>A) c.*499C>A (n.*499C>A) c.603C>A (p.Asp201Glu) c.706C>A (p.Arg236=) c.*1295C>A (n.*1295C>A) c.525C>A (p.Asp175Glu) c.576C>A (p.Asp192Glu) | gnomAD v4 |
16 | g.88643368_88643371dup | CA2634847807 | CYBA | c.489_492dup (p.Glu165ArgfsTer21) c.*790_*793dup (n.*790_*793dup) c.*827_*830dup (n.*827_*830dup) c.*496_*499dup (n.*496_*499dup) c.600_603dup (p.Glu202ArgfsTer21) c.703_706dup (p.Arg236ProfsTer?) c.*1292_*1295dup (n.*1292_*1295dup) c.522_525dup (p.Glu176ArgfsTer21) c.573_576dup (p.Glu193ArgfsTer21) | gnomAD v4 |
16 | g.88643366T>A | CA397056162 | CYBA | c.491A>T (p.Asp164Val) c.*792A>T (n.*792A>T) c.*829A>T (n.*829A>T) c.*498A>T (n.*498A>T) c.602A>T (p.Asp201Val) c.705A>T (p.Arg235=) c.*1294A>T (n.*1294A>T) c.524A>T (p.Asp175Val) c.575A>T (p.Asp192Val) | gnomAD v4 |
16 | g.88643366T>C | CA286348115 | CYBA | c.491A>G (p.Asp164Gly) c.*792A>G (n.*792A>G) c.*829A>G (n.*829A>G) c.*498A>G (n.*498A>G) c.602A>G (p.Asp201Gly) c.705A>G (p.Arg235=) c.*1294A>G (n.*1294A>G) c.524A>G (p.Asp175Gly) c.575A>G (p.Asp192Gly) | dbSNP gnomAD v4 |
16 | g.88643366T>G | CA397056168 | CYBA | c.491A>C (p.Asp164Ala) c.*792A>C (n.*792A>C) c.*829A>C (n.*829A>C) c.*498A>C (n.*498A>C) c.602A>C (p.Asp201Ala) c.705A>C (p.Arg235=) c.*1294A>C (n.*1294A>C) c.524A>C (p.Asp175Ala) c.575A>C (p.Asp192Ala) | gnomAD v4 |
16 | g.88643366T= | CA2241199594 | CYBA | c.491A= (p.Asp164=) c.*792A= (n.*792A=) c.*829A= (n.*829A=) c.*498A= (n.*498A=) c.602A= (p.Asp201=) c.705A= (p.Arg235=) c.*1294A= (n.*1294A=) c.524A= (p.Asp175=) c.575A= (p.Asp192=) | |
16 | g.88643367C>A | CA397056171 | CYBA | c.490G>T (p.Asp164Tyr) c.*791G>T (n.*791G>T) c.*828G>T (n.*828G>T) c.*497G>T (n.*497G>T) c.601G>T (p.Asp201Tyr) c.704G>T (p.Arg235Leu) c.*1293G>T (n.*1293G>T) c.523G>T (p.Asp175Tyr) c.574G>T (p.Asp192Tyr) | ClinVar gnomAD v4 |
16 | g.88643367C= | CA2241199595 | CYBA | c.490G= (p.Asp164=) c.*791G= (n.*791G=) c.*828G= (n.*828G=) c.*497G= (n.*497G=) c.601G= (p.Asp201=) c.704G= (p.Arg235=) c.*1293G= (n.*1293G=) c.523G= (p.Asp175=) c.574G= (p.Asp192=) | |
16 | g.88643367C>G | CA397056176 | CYBA | c.490G>C (p.Asp164His) c.*791G>C (n.*791G>C) c.*828G>C (n.*828G>C) c.*497G>C (n.*497G>C) c.601G>C (p.Asp201His) c.704G>C (p.Arg235Pro) c.*1293G>C (n.*1293G>C) c.523G>C (p.Asp175His) c.574G>C (p.Asp192His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643367C>T | CA8228168 | CYBA | c.490G>A (p.Asp164Asn) c.*791G>A (n.*791G>A) c.*828G>A (n.*828G>A) c.*497G>A (n.*497G>A) c.601G>A (p.Asp201Asn) c.704G>A (p.Arg235Gln) c.*1293G>A (n.*1293G>A) c.523G>A (p.Asp175Asn) c.574G>A (p.Asp192Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643368G>A | CA497362066 | CYBA | c.489C>T (p.Thr163=) c.*790C>T (n.*790C>T) c.*827C>T (n.*827C>T) c.*496C>T (n.*496C>T) c.600C>T (p.Thr200=) c.703C>T (p.Arg235Ter) c.*1292C>T (n.*1292C>T) c.522C>T (p.Thr174=) c.573C>T (p.Thr191=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643368G>C | CA497362067 | CYBA | c.489C>G (p.Thr163=) c.*790C>G (n.*790C>G) c.*827C>G (n.*827C>G) c.*496C>G (n.*496C>G) c.600C>G (p.Thr200=) c.703C>G (p.Arg235Gly) c.*1292C>G (n.*1292C>G) c.522C>G (p.Thr174=) c.573C>G (p.Thr191=) | |
16 | g.88643368G= | CA2241199596 | CYBA | c.489C= (p.Thr163=) c.*790C= (n.*790C=) c.*827C= (n.*827C=) c.*496C= (n.*496C=) c.600C= (p.Thr200=) c.703C= (p.Arg235=) c.*1292C= (n.*1292C=) c.522C= (p.Thr174=) c.573C= (p.Thr191=) | |
16 | g.88643368G>T | CA497362068 | CYBA | c.489C>A (p.Thr163=) c.*790C>A (n.*790C>A) c.*827C>A (n.*827C>A) c.*496C>A (n.*496C>A) c.600C>A (p.Thr200=) c.703C>A (p.Arg235=) c.*1292C>A (n.*1292C>A) c.522C>A (p.Thr174=) c.573C>A (p.Thr191=) | gnomAD v4 |
16 | g.88643369G>A | CA397056187 | CYBA | c.488C>T (p.Thr163Ile) c.*789C>T (n.*789C>T) c.*826C>T (n.*826C>T) c.*495C>T (n.*495C>T) c.599C>T (p.Thr200Ile) c.702C>T (p.Asp234=) c.*1291C>T (n.*1291C>T) c.521C>T (p.Thr174Ile) c.572C>T (p.Thr191Ile) | gnomAD v4 |
16 | g.88643369G>C | CA397056189 | CYBA | c.488C>G (p.Thr163Ser) c.*789C>G (n.*789C>G) c.*826C>G (n.*826C>G) c.*495C>G (n.*495C>G) c.599C>G (p.Thr200Ser) c.702C>G (p.Asp234Glu) c.*1291C>G (n.*1291C>G) c.521C>G (p.Thr174Ser) c.572C>G (p.Thr191Ser) | gnomAD v4 |
16 | g.88643369G>T | CA397056194 | CYBA | c.488C>A (p.Thr163Asn) c.*789C>A (n.*789C>A) c.*826C>A (n.*826C>A) c.*495C>A (n.*495C>A) c.599C>A (p.Thr200Asn) c.702C>A (p.Asp234Glu) c.*1291C>A (n.*1291C>A) c.521C>A (p.Thr174Asn) c.572C>A (p.Thr191Asn) | gnomAD v4 |
16 | g.88643370T>A | CA397056204 | CYBA | c.487A>T (p.Thr163Ser) c.*788A>T (n.*788A>T) c.*825A>T (n.*825A>T) c.*494A>T (n.*494A>T) c.598A>T (p.Thr200Ser) c.701A>T (p.Asp234Val) c.*1290A>T (n.*1290A>T) c.520A>T (p.Thr174Ser) c.571A>T (p.Thr191Ser) | |
16 | g.88643370T>C | CA397056200 | CYBA | c.487A>G (p.Thr163Ala) c.*788A>G (n.*788A>G) c.*825A>G (n.*825A>G) c.*494A>G (n.*494A>G) c.598A>G (p.Thr200Ala) c.701A>G (p.Asp234Gly) c.*1290A>G (n.*1290A>G) c.520A>G (p.Thr174Ala) c.571A>G (p.Thr191Ala) | gnomAD v4 |
16 | g.88643370T>G | CA397056203 | CYBA | c.487A>C (p.Thr163Pro) c.*788A>C (n.*788A>C) c.*825A>C (n.*825A>C) c.*494A>C (n.*494A>C) c.598A>C (p.Thr200Pro) c.701A>C (p.Asp234Ala) c.*1290A>C (n.*1290A>C) c.520A>C (p.Thr174Pro) c.571A>C (p.Thr191Pro) | |
16 | g.88643371C>A | CA497362069 | CYBA | c.486G>T (p.Val162=) c.*787G>T (n.*787G>T) c.*824G>T (n.*824G>T) c.*493G>T (n.*493G>T) c.597G>T (p.Val199=) c.700G>T (p.Asp234Tyr) c.*1289G>T (n.*1289G>T) c.519G>T (p.Val173=) c.570G>T (p.Val190=) | ClinVar gnomAD v4 |
16 | g.88643371C>G | CA497362070 | CYBA | c.486G>C (p.Val162=) c.*787G>C (n.*787G>C) c.*824G>C (n.*824G>C) c.*493G>C (n.*493G>C) c.597G>C (p.Val199=) c.700G>C (p.Asp234His) c.*1289G>C (n.*1289G>C) c.519G>C (p.Val173=) c.570G>C (p.Val190=) | |
16 | g.88643371C>T | CA497362071 | CYBA | c.486G>A (p.Val162=) c.*787G>A (n.*787G>A) c.*824G>A (n.*824G>A) c.*493G>A (n.*493G>A) c.597G>A (p.Val199=) c.700G>A (p.Asp234Asn) c.*1289G>A (n.*1289G>A) c.519G>A (p.Val173=) c.570G>A (p.Val190=) | |
16 | g.88643372A= | CA2241199597 | CYBA | c.485T= (p.Val162=) c.*786T= (n.*786T=) c.*823T= (n.*823T=) c.*492T= (n.*492T=) c.596T= (p.Val199=) c.699T= (p.Gly233=) c.*1288T= (n.*1288T=) c.518T= (p.Val173=) c.569T= (p.Val190=) | |
16 | g.88643372A>C | CA397056205 | CYBA | c.485T>G (p.Val162Gly) c.*786T>G (n.*786T>G) c.*823T>G (n.*823T>G) c.*492T>G (n.*492T>G) c.596T>G (p.Val199Gly) c.699T>G (p.Gly233=) c.*1288T>G (n.*1288T>G) c.518T>G (p.Val173Gly) c.569T>G (p.Val190Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643372A>G | CA397056206 | CYBA | c.485T>C (p.Val162Ala) c.*786T>C (n.*786T>C) c.*823T>C (n.*823T>C) c.*492T>C (n.*492T>C) c.596T>C (p.Val199Ala) c.699T>C (p.Gly233=) c.*1288T>C (n.*1288T>C) c.518T>C (p.Val173Ala) c.569T>C (p.Val190Ala) | gnomAD v4 |
16 | g.88643372A>T | CA397056208 | CYBA | c.485T>A (p.Val162Glu) c.*786T>A (n.*786T>A) c.*823T>A (n.*823T>A) c.*492T>A (n.*492T>A) c.596T>A (p.Val199Glu) c.699T>A (p.Gly233=) c.*1288T>A (n.*1288T>A) c.518T>A (p.Val173Glu) c.569T>A (p.Val190Glu) | |
16 | g.88643373C>A | CA397056213 | CYBA | c.484G>T (p.Val162Leu) c.*785G>T (n.*785G>T) c.*822G>T (n.*822G>T) c.*491G>T (n.*491G>T) c.595G>T (p.Val199Leu) c.698G>T (p.Gly233Val) c.*1287G>T (n.*1287G>T) c.517G>T (p.Val173Leu) c.568G>T (p.Val190Leu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643373C= | CA2241199598 | CYBA | c.484G= (p.Val162=) c.*785G= (n.*785G=) c.*822G= (n.*822G=) c.*491G= (n.*491G=) c.595G= (p.Val199=) c.698G= (p.Gly233=) c.*1287G= (n.*1287G=) c.517G= (p.Val173=) c.568G= (p.Val190=) | |
16 | g.88643373C>G | CA397056215 | CYBA | c.484G>C (p.Val162Leu) c.*785G>C (n.*785G>C) c.*822G>C (n.*822G>C) c.*491G>C (n.*491G>C) c.595G>C (p.Val199Leu) c.698G>C (p.Gly233Ala) c.*1287G>C (n.*1287G>C) c.517G>C (p.Val173Leu) c.568G>C (p.Val190Leu) | gnomAD v4 |
16 | g.88643373C>T | CA397056216 | CYBA | c.484G>A (p.Val162Met) c.*785G>A (n.*785G>A) c.*822G>A (n.*822G>A) c.*491G>A (n.*491G>A) c.595G>A (p.Val199Met) c.698G>A (p.Gly233Asp) c.*1287G>A (n.*1287G>A) c.517G>A (p.Val173Met) c.568G>A (p.Val190Met) | gnomAD v4 |
16 | g.88643374C>A | CA497362072 | CYBA | c.483G>T (p.Pro161=) c.*784G>T (n.*784G>T) c.*821G>T (n.*821G>T) c.*490G>T (n.*490G>T) c.594G>T (p.Pro198=) c.697G>T (p.Gly233Cys) c.*1286G>T (n.*1286G>T) c.516G>T (p.Pro172=) c.567G>T (p.Pro189=) | gnomAD v4 |
16 | g.88643374C= | CA2241199599 | CYBA | c.483G= (p.Pro161=) c.*784G= (n.*784G=) c.*821G= (n.*821G=) c.*490G= (n.*490G=) c.594G= (p.Pro198=) c.697G= (p.Gly233=) c.*1286G= (n.*1286G=) c.516G= (p.Pro172=) c.567G= (p.Pro189=) | |
16 | g.88643374C>G | CA497362073 | CYBA | c.483G>C (p.Pro161=) c.*784G>C (n.*784G>C) c.*821G>C (n.*821G>C) c.*490G>C (n.*490G>C) c.594G>C (p.Pro198=) c.697G>C (p.Gly233Arg) c.*1286G>C (n.*1286G>C) c.516G>C (p.Pro172=) c.567G>C (p.Pro189=) | dbSNP gnomAD v4 |
16 | g.88643374C>T | CA497362074 | CYBA | c.483G>A (p.Pro161=) c.*784G>A (n.*784G>A) c.*821G>A (n.*821G>A) c.*490G>A (n.*490G>A) c.594G>A (p.Pro198=) c.697G>A (p.Gly233Ser) c.*1286G>A (n.*1286G>A) c.516G>A (p.Pro172=) c.567G>A (p.Pro189=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643375G>A | CA8228169 | CYBA | c.482C>T (p.Pro161Leu) c.*783C>T (n.*783C>T) c.*820C>T (n.*820C>T) c.*489C>T (n.*489C>T) c.593C>T (p.Pro198Leu) c.696C>T (p.Pro232=) c.*1285C>T (n.*1285C>T) c.515C>T (p.Pro172Leu) c.566C>T (p.Pro189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643375G>C | CA8228170 | CYBA | c.482C>G (p.Pro161Arg) c.*783C>G (n.*783C>G) c.*820C>G (n.*820C>G) c.*489C>G (n.*489C>G) c.593C>G (p.Pro198Arg) c.696C>G (p.Pro232=) c.*1285C>G (n.*1285C>G) c.515C>G (p.Pro172Arg) c.566C>G (p.Pro189Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643375G= | CA2241199600 | CYBA | c.482C= (p.Pro161=) c.*783C= (n.*783C=) c.*820C= (n.*820C=) c.*489C= (n.*489C=) c.593C= (p.Pro198=) c.696C= (p.Pro232=) c.*1285C= (n.*1285C=) c.515C= (p.Pro172=) c.566C= (p.Pro189=) | |
16 | g.88643375G>T | CA397056225 | CYBA | c.482C>A (p.Pro161Gln) c.*783C>A (n.*783C>A) c.*820C>A (n.*820C>A) c.*489C>A (n.*489C>A) c.593C>A (p.Pro198Gln) c.696C>A (p.Pro232=) c.*1285C>A (n.*1285C>A) c.515C>A (p.Pro172Gln) c.566C>A (p.Pro189Gln) | gnomAD v4 |
16 | g.88643376G>A | CA397056231 | CYBA | c.481C>T (p.Pro161Ser) c.*782C>T (n.*782C>T) c.*819C>T (n.*819C>T) c.*488C>T (n.*488C>T) c.592C>T (p.Pro198Ser) c.695C>T (p.Pro232Leu) c.*1284C>T (n.*1284C>T) c.514C>T (p.Pro172Ser) c.565C>T (p.Pro189Ser) | gnomAD v4 |
16 | g.88643376G>C | CA397056235 | CYBA | c.481C>G (p.Pro161Ala) c.*782C>G (n.*782C>G) c.*819C>G (n.*819C>G) c.*488C>G (n.*488C>G) c.592C>G (p.Pro198Ala) c.695C>G (p.Pro232Arg) c.*1284C>G (n.*1284C>G) c.514C>G (p.Pro172Ala) c.565C>G (p.Pro189Ala) | |
16 | g.88643376G>T | CA397056257 | CYBA | c.481C>A (p.Pro161Thr) c.*782C>A (n.*782C>A) c.*819C>A (n.*819C>A) c.*488C>A (n.*488C>A) c.592C>A (p.Pro198Thr) c.695C>A (p.Pro232His) c.*1284C>A (n.*1284C>A) c.514C>A (p.Pro172Thr) c.565C>A (p.Pro189Thr) | gnomAD v4 |
16 | g.88643377G>A | CA8228171 | CYBA | c.480C>T (p.Ile160=) c.*781C>T (n.*781C>T) c.*818C>T (n.*818C>T) c.*487C>T (n.*487C>T) c.591C>T (p.Ile197=) c.694C>T (p.Pro232Ser) c.*1283C>T (n.*1283C>T) c.513C>T (p.Ile171=) c.564C>T (p.Ile188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643377G>C | CA397056258 | CYBA | c.480C>G (p.Ile160Met) c.*781C>G (n.*781C>G) c.*818C>G (n.*818C>G) c.*487C>G (n.*487C>G) c.591C>G (p.Ile197Met) c.694C>G (p.Pro232Ala) c.*1283C>G (n.*1283C>G) c.513C>G (p.Ile171Met) c.564C>G (p.Ile188Met) | |
16 | g.88643377G= | CA2241199601 | CYBA | c.480C= (p.Ile160=) c.*781C= (n.*781C=) c.*818C= (n.*818C=) c.*487C= (n.*487C=) c.591C= (p.Ile197=) c.694C= (p.Pro232=) c.*1283C= (n.*1283C=) c.513C= (p.Ile171=) c.564C= (p.Ile188=) | |
16 | g.88643377G>T | CA497362075 | CYBA | c.480C>A (p.Ile160=) c.*781C>A (n.*781C>A) c.*818C>A (n.*818C>A) c.*487C>A (n.*487C>A) c.591C>A (p.Ile197=) c.694C>A (p.Pro232Thr) c.*1283C>A (n.*1283C>A) c.513C>A (p.Ile171=) c.564C>A (p.Ile188=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643378A= | CA2241199602 | CYBA | c.479T= (p.Ile160=) c.*780T= (n.*780T=) c.*817T= (n.*817T=) c.*486T= (n.*486T=) c.590T= (p.Ile197=) c.693T= (p.His231=) c.*1282T= (n.*1282T=) c.512T= (p.Ile171=) c.563T= (p.Ile188=) | |
16 | g.88643378A>C | CA397056262 | CYBA | c.479T>G (p.Ile160Ser) c.*780T>G (n.*780T>G) c.*817T>G (n.*817T>G) c.*486T>G (n.*486T>G) c.590T>G (p.Ile197Ser) c.693T>G (p.His231Gln) c.*1282T>G (n.*1282T>G) c.512T>G (p.Ile171Ser) c.563T>G (p.Ile188Ser) | |
16 | g.88643378A>G | CA397056271 | CYBA | c.479T>C (p.Ile160Thr) c.*780T>C (n.*780T>C) c.*817T>C (n.*817T>C) c.*486T>C (n.*486T>C) c.590T>C (p.Ile197Thr) c.693T>C (p.His231=) c.*1282T>C (n.*1282T>C) c.512T>C (p.Ile171Thr) c.563T>C (p.Ile188Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643378A>T | CA397056267 | CYBA | c.479T>A (p.Ile160Asn) c.*780T>A (n.*780T>A) c.*817T>A (n.*817T>A) c.*486T>A (n.*486T>A) c.590T>A (p.Ile197Asn) c.693T>A (p.His231Gln) c.*1282T>A (n.*1282T>A) c.512T>A (p.Ile171Asn) c.563T>A (p.Ile188Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643379T>A | CA397056278 | CYBA | c.478A>T (p.Ile160Phe) c.*779A>T (n.*779A>T) c.*816A>T (n.*816A>T) c.*485A>T (n.*485A>T) c.589A>T (p.Ile197Phe) c.692A>T (p.His231Leu) c.*1281A>T (n.*1281A>T) c.511A>T (p.Ile171Phe) c.562A>T (p.Ile188Phe) | |
16 | g.88643379T>C | CA397056280 | CYBA | c.478A>G (p.Ile160Val) c.*779A>G (n.*779A>G) c.*816A>G (n.*816A>G) c.*485A>G (n.*485A>G) c.589A>G (p.Ile197Val) c.692A>G (p.His231Arg) c.*1281A>G (n.*1281A>G) c.511A>G (p.Ile171Val) c.562A>G (p.Ile188Val) | |
16 | g.88643379T>G | CA397056279 | CYBA | c.478A>C (p.Ile160Leu) c.*779A>C (n.*779A>C) c.*816A>C (n.*816A>C) c.*485A>C (n.*485A>C) c.589A>C (p.Ile197Leu) c.692A>C (p.His231Pro) c.*1281A>C (n.*1281A>C) c.511A>C (p.Ile171Leu) c.562A>C (p.Ile188Leu) | |
16 | g.88643380G>A | CA497362076 | CYBA | c.477C>T (p.Pro159=) c.*778C>T (n.*778C>T) c.*815C>T (n.*815C>T) c.*484C>T (n.*484C>T) c.588C>T (p.Pro196=) c.691C>T (p.His231Tyr) c.*1280C>T (n.*1280C>T) c.510C>T (p.Pro170=) c.561C>T (p.Pro187=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643380G>C | CA497362077 | CYBA | c.477C>G (p.Pro159=) c.*778C>G (n.*778C>G) c.*815C>G (n.*815C>G) c.*484C>G (n.*484C>G) c.588C>G (p.Pro196=) c.691C>G (p.His231Asp) c.*1280C>G (n.*1280C>G) c.510C>G (p.Pro170=) c.561C>G (p.Pro187=) | |
16 | g.88643380G= | CA2241199603 | CYBA | c.477C= (p.Pro159=) c.*778C= (n.*778C=) c.*815C= (n.*815C=) c.*484C= (n.*484C=) c.588C= (p.Pro196=) c.691C= (p.His231=) c.*1280C= (n.*1280C=) c.510C= (p.Pro170=) c.561C= (p.Pro187=) | |
16 | g.88643380G>T | CA497362078 | CYBA | c.477C>A (p.Pro159=) c.*778C>A (n.*778C>A) c.*815C>A (n.*815C>A) c.*484C>A (n.*484C>A) c.588C>A (p.Pro196=) c.691C>A (p.His231Asn) c.*1280C>A (n.*1280C>A) c.510C>A (p.Pro170=) c.561C>A (p.Pro187=) | dbSNP gnomAD v4 |
16 | g.88643383del | CA2634847909 | CYBA | c.477del (p.Ile160SerfsTer3) c.*778del (n.*778del) c.*815del (n.*815del) c.*484del (n.*484del) c.588del (p.Ile197SerfsTer3) c.691del (p.His231IlefsTer9) c.*1280del (n.*1280del) c.510del (p.Ile171SerfsTer3) c.561del (p.Ile188SerfsTer3) | gnomAD v4 |
16 | g.88643381G>A | CA397056283 | CYBA | c.476C>T (p.Pro159Leu) c.*777C>T (n.*777C>T) c.*814C>T (n.*814C>T) c.*483C>T (n.*483C>T) c.587C>T (p.Pro196Leu) c.690C>T (p.Pro230=) c.*1279C>T (n.*1279C>T) c.509C>T (p.Pro170Leu) c.560C>T (p.Pro187Leu) | |
16 | g.88643381G>C | CA397056288 | CYBA | c.476C>G (p.Pro159Arg) c.*777C>G (n.*777C>G) c.*814C>G (n.*814C>G) c.*483C>G (n.*483C>G) c.587C>G (p.Pro196Arg) c.690C>G (p.Pro230=) c.*1279C>G (n.*1279C>G) c.509C>G (p.Pro170Arg) c.560C>G (p.Pro187Arg) | |
16 | g.88643381G>T | CA397056285 | CYBA | c.476C>A (p.Pro159His) c.*777C>A (n.*777C>A) c.*814C>A (n.*814C>A) c.*483C>A (n.*483C>A) c.587C>A (p.Pro196His) c.690C>A (p.Pro230=) c.*1279C>A (n.*1279C>A) c.509C>A (p.Pro170His) c.560C>A (p.Pro187His) | gnomAD v4 |
16 | g.88643382G>A | CA397056294 | CYBA | c.475C>T (p.Pro159Ser) c.*776C>T (n.*776C>T) c.*813C>T (n.*813C>T) c.*482C>T (n.*482C>T) c.586C>T (p.Pro196Ser) c.689C>T (p.Pro230Leu) c.*1278C>T (n.*1278C>T) c.508C>T (p.Pro170Ser) c.559C>T (p.Pro187Ser) | gnomAD v4 |
16 | g.88643382G>C | CA397056297 | CYBA | c.475C>G (p.Pro159Ala) c.*776C>G (n.*776C>G) c.*813C>G (n.*813C>G) c.*482C>G (n.*482C>G) c.586C>G (p.Pro196Ala) c.689C>G (p.Pro230Arg) c.*1278C>G (n.*1278C>G) c.508C>G (p.Pro170Ala) c.559C>G (p.Pro187Ala) | |
16 | g.88643382G>T | CA397056302 | CYBA | c.475C>A (p.Pro159Thr) c.*776C>A (n.*776C>A) c.*813C>A (n.*813C>A) c.*482C>A (n.*482C>A) c.586C>A (p.Pro196Thr) c.689C>A (p.Pro230His) c.*1278C>A (n.*1278C>A) c.508C>A (p.Pro170Thr) c.559C>A (p.Pro187Thr) | gnomAD v4 |
16 | g.88643383G>A | CA497362079 | CYBA | c.474C>T (p.Asn158=) c.*775C>T (n.*775C>T) c.*812C>T (n.*812C>T) c.*481C>T (n.*481C>T) c.585C>T (p.Asn195=) c.688C>T (p.Pro230Ser) c.*1277C>T (n.*1277C>T) c.507C>T (p.Asn169=) c.558C>T (p.Asn186=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643383G>C | CA397056307 | CYBA | c.474C>G (p.Asn158Lys) c.*775C>G (n.*775C>G) c.*812C>G (n.*812C>G) c.*481C>G (n.*481C>G) c.585C>G (p.Asn195Lys) c.688C>G (p.Pro230Ala) c.*1277C>G (n.*1277C>G) c.507C>G (p.Asn169Lys) c.558C>G (p.Asn186Lys) | |
16 | g.88643383G= | CA2241199604 | CYBA | c.474C= (p.Asn158=) c.*775C= (n.*775C=) c.*812C= (n.*812C=) c.*481C= (n.*481C=) c.585C= (p.Asn195=) c.688C= (p.Pro230=) c.*1277C= (n.*1277C=) c.507C= (p.Asn169=) c.558C= (p.Asn186=) | |
16 | g.88643383G>T | CA397056310 | CYBA | c.474C>A (p.Asn158Lys) c.*775C>A (n.*775C>A) c.*812C>A (n.*812C>A) c.*481C>A (n.*481C>A) c.585C>A (p.Asn195Lys) c.688C>A (p.Pro230Thr) c.*1277C>A (n.*1277C>A) c.507C>A (p.Asn169Lys) c.558C>A (p.Asn186Lys) | gnomAD v4 |
16 | g.88643384T>A | CA397056314 | CYBA | c.473A>T (p.Asn158Ile) c.*774A>T (n.*774A>T) c.*811A>T (n.*811A>T) c.*480A>T (n.*480A>T) c.584A>T (p.Asn195Ile) c.687A>T (p.Gln229His) c.*1276A>T (n.*1276A>T) c.506A>T (p.Asn169Ile) c.557A>T (p.Asn186Ile) | gnomAD v4 |
16 | g.88643384T>C | CA397056321 | CYBA | c.473A>G (p.Asn158Ser) c.*774A>G (n.*774A>G) c.*811A>G (n.*811A>G) c.*480A>G (n.*480A>G) c.584A>G (p.Asn195Ser) c.687A>G (p.Gln229=) c.*1276A>G (n.*1276A>G) c.506A>G (p.Asn169Ser) c.557A>G (p.Asn186Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643384T>G | CA397056326 | CYBA | c.473A>C (p.Asn158Thr) c.*774A>C (n.*774A>C) c.*811A>C (n.*811A>C) c.*480A>C (n.*480A>C) c.584A>C (p.Asn195Thr) c.687A>C (p.Gln229His) c.*1276A>C (n.*1276A>C) c.506A>C (p.Asn169Thr) c.557A>C (p.Asn186Thr) | |
16 | g.88643384T= | CA2241199605 | CYBA | c.473A= (p.Asn158=) c.*774A= (n.*774A=) c.*811A= (n.*811A=) c.*480A= (n.*480A=) c.584A= (p.Asn195=) c.687A= (p.Gln229=) c.*1276A= (n.*1276A=) c.506A= (p.Asn169=) c.557A= (p.Asn186=) | |
16 | g.88643385T>A | CA397056332 | CYBA | c.472A>T (p.Asn158Tyr) c.*773A>T (n.*773A>T) c.*810A>T (n.*810A>T) c.*479A>T (n.*479A>T) c.583A>T (p.Asn195Tyr) c.686A>T (p.Gln229Leu) c.*1275A>T (n.*1275A>T) c.505A>T (p.Asn169Tyr) c.556A>T (p.Asn186Tyr) | |
16 | g.88643385T>C | CA397056336 | CYBA | c.472A>G (p.Asn158Asp) c.*773A>G (n.*773A>G) c.*810A>G (n.*810A>G) c.*479A>G (n.*479A>G) c.583A>G (p.Asn195Asp) c.686A>G (p.Gln229Arg) c.*1275A>G (n.*1275A>G) c.505A>G (p.Asn169Asp) c.556A>G (p.Asn186Asp) | gnomAD v4 |
16 | g.88643385T>G | CA397056337 | CYBA | c.472A>C (p.Asn158His) c.*773A>C (n.*773A>C) c.*810A>C (n.*810A>C) c.*479A>C (n.*479A>C) c.583A>C (p.Asn195His) c.686A>C (p.Gln229Pro) c.*1275A>C (n.*1275A>C) c.505A>C (p.Asn169His) c.556A>C (p.Asn186His) | |
16 | g.88643386del | CA2841294350 | CYBA | c.471del (p.Asn158ThrfsTer5) c.*772del (n.*772del) c.*809del (n.*809del) c.*478del (n.*478del) c.582del (p.Asn195ThrfsTer5) c.685del (p.Gln229AsnfsTer11) c.*1274del (n.*1274del) c.504del (p.Asn169ThrfsTer5) c.555del (p.Asn186ThrfsTer5) | |
16 | g.88643386G>A | CA497362081 | CYBA | c.471C>T (p.Val157=) c.*772C>T (n.*772C>T) c.*809C>T (n.*809C>T) c.*478C>T (n.*478C>T) c.582C>T (p.Val194=) c.685C>T (p.Gln229Ter) c.*1274C>T (n.*1274C>T) c.504C>T (p.Val168=) c.555C>T (p.Val185=) | gnomAD v4 |
16 | g.88643386G>C | CA497362082 | CYBA | c.471C>G (p.Val157=) c.*772C>G (n.*772C>G) c.*809C>G (n.*809C>G) c.*478C>G (n.*478C>G) c.582C>G (p.Val194=) c.685C>G (p.Gln229Glu) c.*1274C>G (n.*1274C>G) c.504C>G (p.Val168=) c.555C>G (p.Val185=) | |
16 | g.88643386G>T | CA497362083 | CYBA | c.471C>A (p.Val157=) c.*772C>A (n.*772C>A) c.*809C>A (n.*809C>A) c.*478C>A (n.*478C>A) c.582C>A (p.Val194=) c.685C>A (p.Gln229Lys) c.*1274C>A (n.*1274C>A) c.504C>A (p.Val168=) c.555C>A (p.Val185=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643387A>C | CA397056341 | CYBA | c.470T>G (p.Val157Gly) c.*771T>G (n.*771T>G) c.*808T>G (n.*808T>G) c.*477T>G (n.*477T>G) c.581T>G (p.Val194Gly) c.684T>G (p.Gly228=) c.*1273T>G (n.*1273T>G) c.503T>G (p.Val168Gly) c.554T>G (p.Val185Gly) | gnomAD v4 |
16 | g.88643387A>G | CA397056340 | CYBA | c.470T>C (p.Val157Ala) c.*771T>C (n.*771T>C) c.*808T>C (n.*808T>C) c.*477T>C (n.*477T>C) c.581T>C (p.Val194Ala) c.684T>C (p.Gly228=) c.*1273T>C (n.*1273T>C) c.503T>C (p.Val168Ala) c.554T>C (p.Val185Ala) | gnomAD v4 |
16 | g.88643387A>T | CA397056338 | CYBA | c.470T>A (p.Val157Asp) c.*771T>A (n.*771T>A) c.*808T>A (n.*808T>A) c.*477T>A (n.*477T>A) c.581T>A (p.Val194Asp) c.684T>A (p.Gly228=) c.*1273T>A (n.*1273T>A) c.503T>A (p.Val168Asp) c.554T>A (p.Val185Asp) | |
16 | g.88643388C>A | CA397056346 | CYBA | c.469G>T (p.Val157Phe) c.*770G>T (n.*770G>T) c.*807G>T (n.*807G>T) c.*476G>T (n.*476G>T) c.580G>T (p.Val194Phe) c.683G>T (p.Gly228Val) c.*1272G>T (n.*1272G>T) c.502G>T (p.Val168Phe) c.553G>T (p.Val185Phe) | dbSNP gnomAD v4 |
16 | g.88643388C= | CA2241199606 | CYBA | c.469G= (p.Val157=) c.*770G= (n.*770G=) c.*807G= (n.*807G=) c.*476G= (n.*476G=) c.580G= (p.Val194=) c.683G= (p.Gly228=) c.*1272G= (n.*1272G=) c.502G= (p.Val168=) c.553G= (p.Val185=) | |
16 | g.88643388C>G | CA397056350 | CYBA | c.469G>C (p.Val157Leu) c.*770G>C (n.*770G>C) c.*807G>C (n.*807G>C) c.*476G>C (n.*476G>C) c.580G>C (p.Val194Leu) c.683G>C (p.Gly228Ala) c.*1272G>C (n.*1272G>C) c.502G>C (p.Val168Leu) c.553G>C (p.Val185Leu) | |
16 | g.88643388C>T | CA397056355 | CYBA | c.469G>A (p.Val157Ile) c.*770G>A (n.*770G>A) c.*807G>A (n.*807G>A) c.*476G>A (n.*476G>A) c.580G>A (p.Val194Ile) c.683G>A (p.Gly228Asp) c.*1272G>A (n.*1272G>A) c.502G>A (p.Val168Ile) c.553G>A (p.Val185Ile) | ClinVar dbSNP gnomAD v4 |
16 | g.88643389C>A | CA397056361 | CYBA | c.468G>T (p.Gln156His) c.*769G>T (n.*769G>T) c.*806G>T (n.*806G>T) c.*475G>T (n.*475G>T) c.579G>T (p.Gln193His) c.682G>T (p.Gly228Cys) c.*1271G>T (n.*1271G>T) c.501G>T (p.Gln167His) c.552G>T (p.Gln184His) | gnomAD v4 |
16 | g.88643389C>G | CA397056364 | CYBA | c.468G>C (p.Gln156His) c.*769G>C (n.*769G>C) c.*806G>C (n.*806G>C) c.*475G>C (n.*475G>C) c.579G>C (p.Gln193His) c.682G>C (p.Gly228Arg) c.*1271G>C (n.*1271G>C) c.501G>C (p.Gln167His) c.552G>C (p.Gln184His) | |
16 | g.88643389C>T | CA497362084 | CYBA | c.468G>A (p.Gln156=) c.*769G>A (n.*769G>A) c.*806G>A (n.*806G>A) c.*475G>A (n.*475G>A) c.579G>A (p.Gln193=) c.682G>A (p.Gly228Ser) c.*1271G>A (n.*1271G>A) c.501G>A (p.Gln167=) c.552G>A (p.Gln184=) | ClinVar gnomAD v4 |
16 | g.88643390T>A | CA397056375 | CYBA | c.467A>T (p.Gln156Leu) c.*768A>T (n.*768A>T) c.*805A>T (n.*805A>T) c.*474A>T (n.*474A>T) c.578A>T (p.Gln193Leu) c.681A>T (p.Pro227=) c.*1270A>T (n.*1270A>T) c.500A>T (p.Gln167Leu) c.551A>T (p.Gln184Leu) | gnomAD v4 |
16 | g.88643390T>C | CA397056376 | CYBA | c.467A>G (p.Gln156Arg) c.*768A>G (n.*768A>G) c.*805A>G (n.*805A>G) c.*474A>G (n.*474A>G) c.578A>G (p.Gln193Arg) c.681A>G (p.Pro227=) c.*1270A>G (n.*1270A>G) c.500A>G (p.Gln167Arg) c.551A>G (p.Gln184Arg) | gnomAD v4 |
16 | g.88643390T>G | CA397056379 | CYBA | c.467A>C (p.Gln156Pro) c.*768A>C (n.*768A>C) c.*805A>C (n.*805A>C) c.*474A>C (n.*474A>C) c.578A>C (p.Gln193Pro) c.681A>C (p.Pro227=) c.*1270A>C (n.*1270A>C) c.500A>C (p.Gln167Pro) c.551A>C (p.Gln184Pro) | gnomAD v4 |
16 | g.88643391G>A | CA397056383 | CYBA | c.466C>T (p.Gln156Ter) c.*767C>T (n.*767C>T) c.*804C>T (n.*804C>T) c.*473C>T (n.*473C>T) c.577C>T (p.Gln193Ter) c.680C>T (p.Pro227Leu) c.*1269C>T (n.*1269C>T) c.499C>T (p.Gln167Ter) c.550C>T (p.Gln184Ter) | |
16 | g.88643391G>C | CA286348126 | CYBA | c.466C>G (p.Gln156Glu) c.*767C>G (n.*767C>G) c.*804C>G (n.*804C>G) c.*473C>G (n.*473C>G) c.577C>G (p.Gln193Glu) c.680C>G (p.Pro227Arg) c.*1269C>G (n.*1269C>G) c.499C>G (p.Gln167Glu) c.550C>G (p.Gln184Glu) | dbSNP |
16 | g.88643391G= | CA2241199607 | CYBA | c.466C= (p.Gln156=) c.*767C= (n.*767C=) c.*804C= (n.*804C=) c.*473C= (n.*473C=) c.577C= (p.Gln193=) c.680C= (p.Pro227=) c.*1269C= (n.*1269C=) c.499C= (p.Gln167=) c.550C= (p.Gln184=) | |
16 | g.88643391G>T | CA397056390 | CYBA | c.466C>A (p.Gln156Lys) c.*767C>A (n.*767C>A) c.*804C>A (n.*804C>A) c.*473C>A (n.*473C>A) c.577C>A (p.Gln193Lys) c.680C>A (p.Pro227Gln) c.*1269C>A (n.*1269C>A) c.499C>A (p.Gln167Lys) c.550C>A (p.Gln184Lys) | gnomAD v4 |
16 | g.88643394del | CA2526399430 | CYBA | c.466del (p.Gln156ArgfsTer7) c.*767del (n.*767del) c.*804del (n.*804del) c.*473del (n.*473del) c.577del (p.Gln193ArgfsTer7) c.680del (p.Pro227GlnfsTer13) c.*1269del (n.*1269del) c.499del (p.Gln167ArgfsTer7) c.550del (p.Gln184ArgfsTer7) | gnomAD v4 |
16 | g.88643393_88643394del | CA2634847939 | CYBA | c.465_466del (p.Gln156GlyfsTer28) c.*766_*767del (n.*766_*767del) c.*803_*804del (n.*803_*804del) c.*472_*473del (n.*472_*473del) c.576_577del (p.Gln193GlyfsTer28) c.679_680del (p.Pro227ArgfsTer7) c.*1268_*1269del (n.*1268_*1269del) c.498_499del (p.Gln167GlyfsTer28) c.549_550del (p.Gln184GlyfsTer28) | gnomAD v4 |
16 | g.88643391_88643401delinsGGGGACCTCCC | CA2241199608 | CYBA | c.456_466delinsGGGAGGTCCCC (p.Pro152=) c.*757_*767delinsGGGAGGTCCCC (n.*757_*767delinsGGGAGGTCCCC) c.*794_*804delinsGGGAGGTCCCC (n.*794_*804delinsGGGAGGTCCCC) c.*463_*473delinsGGGAGGTCCCC (n.*463_*473delinsGGGAGGTCCCC) c.567_577delinsGGGAGGTCCCC (p.Pro189=) c.670_680delinsGGGAGGTCCCC (p.Gly224=) c.*1259_*1269delinsGGGAGGTCCCC (n.*1259_*1269delinsGGGAGGTCCCC) c.489_499delinsGGGAGGTCCCC (p.Pro163=) c.540_550delinsGGGAGGTCCCC (p.Pro180=) | |
16 | g.88643392G>A | CA497362085 | CYBA | c.465C>T (p.Pro155=) c.*766C>T (n.*766C>T) c.*803C>T (n.*803C>T) c.*472C>T (n.*472C>T) c.576C>T (p.Pro192=) c.679C>T (p.Pro227Ser) c.*1268C>T (n.*1268C>T) c.498C>T (p.Pro166=) c.549C>T (p.Pro183=) | gnomAD v4 |
16 | g.88643392G>C | CA497362086 | CYBA | c.465C>G (p.Pro155=) c.*766C>G (n.*766C>G) c.*803C>G (n.*803C>G) c.*472C>G (n.*472C>G) c.576C>G (p.Pro192=) c.679C>G (p.Pro227Ala) c.*1268C>G (n.*1268C>G) c.498C>G (p.Pro166=) c.549C>G (p.Pro183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643392G= | CA2241199609 | CYBA | c.465C= (p.Pro155=) c.*766C= (n.*766C=) c.*803C= (n.*803C=) c.*472C= (n.*472C=) c.576C= (p.Pro192=) c.679C= (p.Pro227=) c.*1268C= (n.*1268C=) c.498C= (p.Pro166=) c.549C= (p.Pro183=) | |
16 | g.88643392G>T | CA497362087 | CYBA | c.465C>A (p.Pro155=) c.*766C>A (n.*766C>A) c.*803C>A (n.*803C>A) c.*472C>A (n.*472C>A) c.576C>A (p.Pro192=) c.679C>A (p.Pro227Thr) c.*1268C>A (n.*1268C>A) c.498C>A (p.Pro166=) c.549C>A (p.Pro183=) | gnomAD v4 |
16 | g.88643395_88643404del | CA624448037 | CYBA | c.456_465del (p.Gly153ArgfsTer7) c.*757_*766del (n.*757_*766del) c.*794_*803del (n.*794_*803del) c.*463_*472del (n.*463_*472del) c.567_576del (p.Gly190ArgfsTer7) c.670_679del (p.Gly224GlnfsTer13) c.*1259_*1268del (n.*1259_*1268del) c.489_498del (p.Gly164ArgfsTer7) c.540_549del (p.Gly181ArgfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643393G>A | CA397056397 | CYBA | c.464C>T (p.Pro155Leu) c.*765C>T (n.*765C>T) c.*802C>T (n.*802C>T) c.*471C>T (n.*471C>T) c.575C>T (p.Pro192Leu) c.678C>T (p.Ser226=) c.*1267C>T (n.*1267C>T) c.497C>T (p.Pro166Leu) c.548C>T (p.Pro183Leu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643393G>C | CA286348129 | CYBA | c.464C>G (p.Pro155Arg) c.*765C>G (n.*765C>G) c.*802C>G (n.*802C>G) c.*471C>G (n.*471C>G) c.575C>G (p.Pro192Arg) c.678C>G (p.Ser226=) c.*1267C>G (n.*1267C>G) c.497C>G (p.Pro166Arg) c.548C>G (p.Pro183Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643393G= | CA2241199610 | CYBA | c.464C= (p.Pro155=) c.*765C= (n.*765C=) c.*802C= (n.*802C=) c.*471C= (n.*471C=) c.575C= (p.Pro192=) c.678C= (p.Ser226=) c.*1267C= (n.*1267C=) c.497C= (p.Pro166=) c.548C= (p.Pro183=) | |
16 | g.88643393G>T | CA397056396 | CYBA | c.464C>A (p.Pro155His) c.*765C>A (n.*765C>A) c.*802C>A (n.*802C>A) c.*471C>A (n.*471C>A) c.575C>A (p.Pro192His) c.678C>A (p.Ser226=) c.*1267C>A (n.*1267C>A) c.497C>A (p.Pro166His) c.548C>A (p.Pro183His) | gnomAD v4 |
16 | g.88643394G>A | CA397056400 | CYBA | c.463C>T (p.Pro155Ser) c.*764C>T (n.*764C>T) c.*801C>T (n.*801C>T) c.*470C>T (n.*470C>T) c.574C>T (p.Pro192Ser) c.677C>T (p.Ser226Phe) c.*1266C>T (n.*1266C>T) c.496C>T (p.Pro166Ser) c.547C>T (p.Pro183Ser) | gnomAD v4 |
16 | g.88643394G>C | CA397056402 | CYBA | c.463C>G (p.Pro155Ala) c.*764C>G (n.*764C>G) c.*801C>G (n.*801C>G) c.*470C>G (n.*470C>G) c.574C>G (p.Pro192Ala) c.677C>G (p.Ser226Cys) c.*1266C>G (n.*1266C>G) c.496C>G (p.Pro166Ala) c.547C>G (p.Pro183Ala) | gnomAD v4 |
16 | g.88643394G>T | CA397056406 | CYBA | c.463C>A (p.Pro155Thr) c.*764C>A (n.*764C>A) c.*801C>A (n.*801C>A) c.*470C>A (n.*470C>A) c.574C>A (p.Pro192Thr) c.677C>A (p.Ser226Tyr) c.*1266C>A (n.*1266C>A) c.496C>A (p.Pro166Thr) c.547C>A (p.Pro183Thr) | gnomAD v4 |
16 | g.88643394_88643395delinsGA | CA2241199611 | CYBA | c.462_463delinsTC (p.Gly154=) c.*763_*764delinsTC (n.*763_*764delinsTC) c.*800_*801delinsTC (n.*800_*801delinsTC) c.*469_*470delinsTC (n.*469_*470delinsTC) c.573_574delinsTC (p.Gly191=) c.676_677delinsTC (p.Ser226=) c.*1265_*1266delinsTC (n.*1265_*1266delinsTC) c.495_496delinsTC (p.Gly165=) c.546_547delinsTC (p.Gly182=) | |
16 | g.88643395del | CA2241199613 | CYBA | c.462del (p.Gln156ArgfsTer7) c.*763del (n.*763del) c.*800del (n.*800del) c.*469del (n.*469del) c.573del (p.Gln193ArgfsTer7) c.676del (p.Ser226ProfsTer14) c.*1265del (n.*1265del) c.495del (p.Gln167ArgfsTer7) c.546del (p.Gln184ArgfsTer7) | dbSNP |
16 | g.88643395A= | CA2241199612 | CYBA | c.462T= (p.Gly154=) c.*763T= (n.*763T=) c.*800T= (n.*800T=) c.*469T= (n.*469T=) c.573T= (p.Gly191=) c.676T= (p.Ser226=) c.*1265T= (n.*1265T=) c.495T= (p.Gly165=) c.546T= (p.Gly182=) | |
16 | g.88643395A>C | CA497362088 | CYBA | c.462T>G (p.Gly154=) c.*763T>G (n.*763T>G) c.*800T>G (n.*800T>G) c.*469T>G (n.*469T>G) c.573T>G (p.Gly191=) c.676T>G (p.Ser226Ala) c.*1265T>G (n.*1265T>G) c.495T>G (p.Gly165=) c.546T>G (p.Gly182=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643395A>G | CA497362089 | CYBA | c.462T>C (p.Gly154=) c.*763T>C (n.*763T>C) c.*800T>C (n.*800T>C) c.*469T>C (n.*469T>C) c.573T>C (p.Gly191=) c.676T>C (p.Ser226Pro) c.*1265T>C (n.*1265T>C) c.495T>C (p.Gly165=) c.546T>C (p.Gly182=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643395A>T | CA497362090 | CYBA | c.462T>A (p.Gly154=) c.*763T>A (n.*763T>A) c.*800T>A (n.*800T>A) c.*469T>A (n.*469T>A) c.573T>A (p.Gly191=) c.676T>A (p.Ser226Thr) c.*1265T>A (n.*1265T>A) c.495T>A (p.Gly165=) c.546T>A (p.Gly182=) | |
16 | g.88643396C>A | CA397056413 | CYBA | c.461G>T (p.Gly154Val) c.*762G>T (n.*762G>T) c.*799G>T (n.*799G>T) c.*468G>T (n.*468G>T) c.572G>T (p.Gly191Val) c.675G>T (p.Arg225Ser) c.*1264G>T (n.*1264G>T) c.494G>T (p.Gly165Val) c.545G>T (p.Gly182Val) | |
16 | g.88643396C>G | CA397056416 | CYBA | c.461G>C (p.Gly154Ala) c.*762G>C (n.*762G>C) c.*799G>C (n.*799G>C) c.*468G>C (n.*468G>C) c.572G>C (p.Gly191Ala) c.675G>C (p.Arg225Ser) c.*1264G>C (n.*1264G>C) c.494G>C (p.Gly165Ala) c.545G>C (p.Gly182Ala) | gnomAD v4 |
16 | g.88643396C>T | CA397056420 | CYBA | c.461G>A (p.Gly154Asp) c.*762G>A (n.*762G>A) c.*799G>A (n.*799G>A) c.*468G>A (n.*468G>A) c.572G>A (p.Gly191Asp) c.675G>A (p.Arg225=) c.*1264G>A (n.*1264G>A) c.494G>A (p.Gly165Asp) c.545G>A (p.Gly182Asp) | gnomAD v4 |
16 | g.88643397C>A | CA397056424 | CYBA | c.460G>T (p.Gly154Cys) c.*761G>T (n.*761G>T) c.*798G>T (n.*798G>T) c.*467G>T (n.*467G>T) c.571G>T (p.Gly191Cys) c.674G>T (p.Arg225Met) c.*1263G>T (n.*1263G>T) c.493G>T (p.Gly165Cys) c.544G>T (p.Gly182Cys) | gnomAD v4 |
16 | g.88643397C>G | CA397056428 | CYBA | c.460G>C (p.Gly154Arg) c.*761G>C (n.*761G>C) c.*798G>C (n.*798G>C) c.*467G>C (n.*467G>C) c.571G>C (p.Gly191Arg) c.674G>C (p.Arg225Thr) c.*1263G>C (n.*1263G>C) c.493G>C (p.Gly165Arg) c.544G>C (p.Gly182Arg) | |
16 | g.88643397C>T | CA397056432 | CYBA | c.460G>A (p.Gly154Ser) c.*761G>A (n.*761G>A) c.*798G>A (n.*798G>A) c.*467G>A (n.*467G>A) c.571G>A (p.Gly191Ser) c.674G>A (p.Arg225Lys) c.*1263G>A (n.*1263G>A) c.493G>A (p.Gly165Ser) c.544G>A (p.Gly182Ser) | gnomAD v4 |
16 | g.88643398del | CA2634847979 | CYBA | c.459del (p.Gly154ValfsTer9) c.*760del (n.*760del) c.*797del (n.*797del) c.*466del (n.*466del) c.570del (p.Gly191ValfsTer9) c.673del (p.Arg225GlyfsTer15) c.*1262del (n.*1262del) c.492del (p.Gly165ValfsTer9) c.543del (p.Gly182ValfsTer9) | gnomAD v4 |
16 | g.88643398T>A | CA497362091 | CYBA | c.459A>T (p.Gly153=) c.*760A>T (n.*760A>T) c.*797A>T (n.*797A>T) c.*466A>T (n.*466A>T) c.570A>T (p.Gly190=) c.673A>T (p.Arg225Trp) c.*1262A>T (n.*1262A>T) c.492A>T (p.Gly164=) c.543A>T (p.Gly181=) | |
16 | g.88643398T>C | CA497362092 | CYBA | c.459A>G (p.Gly153=) c.*760A>G (n.*760A>G) c.*797A>G (n.*797A>G) c.*466A>G (n.*466A>G) c.570A>G (p.Gly190=) c.673A>G (p.Arg225Gly) c.*1262A>G (n.*1262A>G) c.492A>G (p.Gly164=) c.543A>G (p.Gly181=) | dbSNP gnomAD v4 |
16 | g.88643398T>G | CA497362093 | CYBA | c.459A>C (p.Gly153=) c.*760A>C (n.*760A>C) c.*797A>C (n.*797A>C) c.*466A>C (n.*466A>C) c.570A>C (p.Gly190=) c.673A>C (p.Arg225=) c.*1262A>C (n.*1262A>C) c.492A>C (p.Gly164=) c.543A>C (p.Gly181=) | ClinVar gnomAD v4 |
16 | g.88643399C>A | CA397056436 | CYBA | c.458G>T (p.Gly153Val) c.*759G>T (n.*759G>T) c.*796G>T (n.*796G>T) c.*465G>T (n.*465G>T) c.569G>T (p.Gly190Val) c.672G>T (p.Gly224=) c.*1261G>T (n.*1261G>T) c.491G>T (p.Gly164Val) c.542G>T (p.Gly181Val) | gnomAD v4 |
16 | g.88643399C= | CA2241199614 | CYBA | c.458G= (p.Gly153=) c.*759G= (n.*759G=) c.*796G= (n.*796G=) c.*465G= (n.*465G=) c.569G= (p.Gly190=) c.672G= (p.Gly224=) c.*1261G= (n.*1261G=) c.491G= (p.Gly164=) c.542G= (p.Gly181=) | |
16 | g.88643399C>G | CA397056442 | CYBA | c.458G>C (p.Gly153Ala) c.*759G>C (n.*759G>C) c.*796G>C (n.*796G>C) c.*465G>C (n.*465G>C) c.569G>C (p.Gly190Ala) c.672G>C (p.Gly224=) c.*1261G>C (n.*1261G>C) c.491G>C (p.Gly164Ala) c.542G>C (p.Gly181Ala) | gnomAD v4 |
16 | g.88643399C>T | CA397056447 | CYBA | c.458G>A (p.Gly153Glu) c.*759G>A (n.*759G>A) c.*796G>A (n.*796G>A) c.*465G>A (n.*465G>A) c.569G>A (p.Gly190Glu) c.672G>A (p.Gly224=) c.*1261G>A (n.*1261G>A) c.491G>A (p.Gly164Glu) c.542G>A (p.Gly181Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643401del | CA2634847981 | CYBA | c.458del (p.Gly153GlufsTer10) c.*759del (n.*759del) c.*796del (n.*796del) c.*465del (n.*465del) c.569del (p.Gly190GlufsTer10) c.672del (p.Arg225GlyfsTer15) c.*1261del (n.*1261del) c.491del (p.Gly164GlufsTer10) c.542del (p.Gly181GlufsTer10) | gnomAD v4 |
16 | g.88643400C>A | CA397056451 | CYBA | c.457G>T (p.Gly153Ter) c.*758G>T (n.*758G>T) c.*795G>T (n.*795G>T) c.*464G>T (n.*464G>T) c.568G>T (p.Gly190Ter) c.671G>T (p.Gly224Val) c.*1260G>T (n.*1260G>T) c.490G>T (p.Gly164Ter) c.541G>T (p.Gly181Ter) | gnomAD v4 |
16 | g.88643400C= | CA2241199615 | CYBA | c.457G= (p.Gly153=) c.*758G= (n.*758G=) c.*795G= (n.*795G=) c.*464G= (n.*464G=) c.568G= (p.Gly190=) c.671G= (p.Gly224=) c.*1260G= (n.*1260G=) c.490G= (p.Gly164=) c.541G= (p.Gly181=) | |
16 | g.88643400C>G | CA397056448 | CYBA | c.457G>C (p.Gly153Arg) c.*758G>C (n.*758G>C) c.*795G>C (n.*795G>C) c.*464G>C (n.*464G>C) c.568G>C (p.Gly190Arg) c.671G>C (p.Gly224Ala) c.*1260G>C (n.*1260G>C) c.490G>C (p.Gly164Arg) c.541G>C (p.Gly181Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643400C>T | CA397056449 | CYBA | c.457G>A (p.Gly153Arg) c.*758G>A (n.*758G>A) c.*795G>A (n.*795G>A) c.*464G>A (n.*464G>A) c.568G>A (p.Gly190Arg) c.671G>A (p.Gly224Glu) c.*1260G>A (n.*1260G>A) c.490G>A (p.Gly164Arg) c.541G>A (p.Gly181Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643401C>A | CA497362094 | CYBA | c.456G>T (p.Pro152=) c.*757G>T (n.*757G>T) c.*794G>T (n.*794G>T) c.*463G>T (n.*463G>T) c.567G>T (p.Pro189=) c.670G>T (p.Gly224Trp) c.*1259G>T (n.*1259G>T) c.489G>T (p.Pro163=) c.540G>T (p.Pro180=) | gnomAD v4 |
16 | g.88643401C= | CA2241199616 | CYBA | c.456G= (p.Pro152=) c.*757G= (n.*757G=) c.*794G= (n.*794G=) c.*463G= (n.*463G=) c.567G= (p.Pro189=) c.670G= (p.Gly224=) c.*1259G= (n.*1259G=) c.489G= (p.Pro163=) c.540G= (p.Pro180=) | |
16 | g.88643401C>G | CA497362095 | CYBA | c.456G>C (p.Pro152=) c.*757G>C (n.*757G>C) c.*794G>C (n.*794G>C) c.*463G>C (n.*463G>C) c.567G>C (p.Pro189=) c.670G>C (p.Gly224Arg) c.*1259G>C (n.*1259G>C) c.489G>C (p.Pro163=) c.540G>C (p.Pro180=) | gnomAD v4 |
16 | g.88643401C>T | CA497362096 | CYBA | c.456G>A (p.Pro152=) c.*757G>A (n.*757G>A) c.*794G>A (n.*794G>A) c.*463G>A (n.*463G>A) c.567G>A (p.Pro189=) c.670G>A (p.Gly224Arg) c.*1259G>A (n.*1259G>A) c.489G>A (p.Pro163=) c.540G>A (p.Pro180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643402G>A | CA397056455 | CYBA | c.455C>T (p.Pro152Leu) c.*756C>T (n.*756C>T) c.*793C>T (n.*793C>T) c.*462C>T (n.*462C>T) c.566C>T (p.Pro189Leu) c.669C>T (p.Pro223=) c.*1258C>T (n.*1258C>T) c.488C>T (p.Pro163Leu) c.539C>T (p.Pro180Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643402G>C | CA397056458 | CYBA | c.455C>G (p.Pro152Arg) c.*756C>G (n.*756C>G) c.*793C>G (n.*793C>G) c.*462C>G (n.*462C>G) c.566C>G (p.Pro189Arg) c.669C>G (p.Pro223=) c.*1258C>G (n.*1258C>G) c.488C>G (p.Pro163Arg) c.539C>G (p.Pro180Arg) | ClinVar dbSNP gnomAD v4 |
16 | g.88643402G= | CA2241199617 | CYBA | c.455C= (p.Pro152=) c.*756C= (n.*756C=) c.*793C= (n.*793C=) c.*462C= (n.*462C=) c.566C= (p.Pro189=) c.669C= (p.Pro223=) c.*1258C= (n.*1258C=) c.488C= (p.Pro163=) c.539C= (p.Pro180=) | |
16 | g.88643402G>T | CA397056459 | CYBA | c.455C>A (p.Pro152Gln) c.*756C>A (n.*756C>A) c.*793C>A (n.*793C>A) c.*462C>A (n.*462C>A) c.566C>A (p.Pro189Gln) c.669C>A (p.Pro223=) c.*1258C>A (n.*1258C>A) c.488C>A (p.Pro163Gln) c.539C>A (p.Pro180Gln) | gnomAD v4 |
16 | g.88643406dup | CA980332359 | CYBA | c.455dup (p.Gly154ArgfsTer?) c.*756dup (n.*756dup) c.*793dup (n.*793dup) c.*462dup (n.*462dup) c.566dup (p.Gly191ArgfsTer?) c.669dup (p.Gly224ArgfsTer11) c.*1258dup (n.*1258dup) c.488dup (p.Gly165ArgfsTer?) c.539dup (p.Gly182ArgfsTer?) | ClinVar gnomAD v3 gnomAD v4 |
16 | g.88643406del | CA2634848007 | CYBA | c.455del (p.Pro152ArgfsTer11) c.*756del (n.*756del) c.*793del (n.*793del) c.*462del (n.*462del) c.566del (p.Pro189ArgfsTer11) c.669del (p.Arg225GlyfsTer15) c.*1258del (n.*1258del) c.488del (p.Pro163ArgfsTer11) c.539del (p.Pro180ArgfsTer11) | gnomAD v4 |
16 | g.88643403G>A | CA397056460 | CYBA | c.454C>T (p.Pro152Ser) c.*755C>T (n.*755C>T) c.*792C>T (n.*792C>T) c.*461C>T (n.*461C>T) c.565C>T (p.Pro189Ser) c.668C>T (p.Pro223Leu) c.*1257C>T (n.*1257C>T) c.487C>T (p.Pro163Ser) c.538C>T (p.Pro180Ser) | dbSNP gnomAD v4 |
16 | g.88643403G>C | CA397056464 | CYBA | c.454C>G (p.Pro152Ala) c.*755C>G (n.*755C>G) c.*792C>G (n.*792C>G) c.*461C>G (n.*461C>G) c.565C>G (p.Pro189Ala) c.668C>G (p.Pro223Arg) c.*1257C>G (n.*1257C>G) c.487C>G (p.Pro163Ala) c.538C>G (p.Pro180Ala) | |
16 | g.88643403G>T | CA397056467 | CYBA | c.454C>A (p.Pro152Thr) c.*755C>A (n.*755C>A) c.*792C>A (n.*792C>A) c.*461C>A (n.*461C>A) c.565C>A (p.Pro189Thr) c.668C>A (p.Pro223His) c.*1257C>A (n.*1257C>A) c.487C>A (p.Pro163Thr) c.538C>A (p.Pro180Thr) | gnomAD v4 |
16 | g.88643404G>A | CA497362097 | CYBA | c.453C>T (p.Pro151=) c.*754C>T (n.*754C>T) c.*791C>T (n.*791C>T) c.*460C>T (n.*460C>T) c.564C>T (p.Pro188=) c.667C>T (p.Pro223Ser) c.*1256C>T (n.*1256C>T) c.486C>T (p.Pro162=) c.537C>T (p.Pro179=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643404G>C | CA497362098 | CYBA | c.453C>G (p.Pro151=) c.*754C>G (n.*754C>G) c.*791C>G (n.*791C>G) c.*460C>G (n.*460C>G) c.564C>G (p.Pro188=) c.667C>G (p.Pro223Ala) c.*1256C>G (n.*1256C>G) c.486C>G (p.Pro162=) c.537C>G (p.Pro179=) | dbSNP |
16 | g.88643404G= | CA2241199618 | CYBA | c.453C= (p.Pro151=) c.*754C= (n.*754C=) c.*791C= (n.*791C=) c.*460C= (n.*460C=) c.564C= (p.Pro188=) c.667C= (p.Pro223=) c.*1256C= (n.*1256C=) c.486C= (p.Pro162=) c.537C= (p.Pro179=) | |
16 | g.88643404G>T | CA497362099 | CYBA | c.453C>A (p.Pro151=) c.*754C>A (n.*754C>A) c.*791C>A (n.*791C>A) c.*460C>A (n.*460C>A) c.564C>A (p.Pro188=) c.667C>A (p.Pro223Thr) c.*1256C>A (n.*1256C>A) c.486C>A (p.Pro162=) c.537C>A (p.Pro179=) | dbSNP gnomAD v4 |
16 | g.88643404_88643418del | CA2634848024 | CYBA | c.439_453del (p.Ala147_Pro151del) c.*740_*754del (n.*740_*754del) c.*777_*791del (n.*777_*791del) c.*446_*460del (n.*446_*460del) c.550_564del (p.Ala184_Pro188del) c.653_667del (p.Gly218_Pro223delinsAla) c.*1242_*1256del (n.*1242_*1256del) c.472_486del (p.Ala158_Pro162del) c.523_537del (p.Ala175_Pro179del) | gnomAD v4 |
16 | g.88643404_88643405insA | CA2576090798 | CYBA | c.452_453insT (p.Gly154ArgfsTer?) c.*753_*754insT (n.*753_*754insT) c.*790_*791insT (n.*790_*791insT) c.*459_*460insT (n.*459_*460insT) c.563_564insT (p.Gly191ArgfsTer?) c.666_667insT (p.Pro223SerfsTer12) c.*1255_*1256insT (n.*1255_*1256insT) c.485_486insT (p.Gly165ArgfsTer?) c.536_537insT (p.Gly182ArgfsTer?) | gnomAD v4 |
16 | g.88643405G>A | CA397056471 | CYBA | c.452C>T (p.Pro151Leu) c.*753C>T (n.*753C>T) c.*790C>T (n.*790C>T) c.*459C>T (n.*459C>T) c.563C>T (p.Pro188Leu) c.666C>T (p.Thr222=) c.*1255C>T (n.*1255C>T) c.485C>T (p.Pro162Leu) c.536C>T (p.Pro179Leu) | gnomAD v4 |
16 | g.88643405G>C | CA397056475 | CYBA | c.452C>G (p.Pro151Arg) c.*753C>G (n.*753C>G) c.*790C>G (n.*790C>G) c.*459C>G (n.*459C>G) c.563C>G (p.Pro188Arg) c.666C>G (p.Thr222=) c.*1255C>G (n.*1255C>G) c.485C>G (p.Pro162Arg) c.536C>G (p.Pro179Arg) | |
16 | g.88643405G= | CA2241199619 | CYBA | c.452C= (p.Pro151=) c.*753C= (n.*753C=) c.*790C= (n.*790C=) c.*459C= (n.*459C=) c.563C= (p.Pro188=) c.666C= (p.Thr222=) c.*1255C= (n.*1255C=) c.485C= (p.Pro162=) c.536C= (p.Pro179=) | |
16 | g.88643405G>T | CA397056479 | CYBA | c.452C>A (p.Pro151His) c.*753C>A (n.*753C>A) c.*790C>A (n.*790C>A) c.*459C>A (n.*459C>A) c.563C>A (p.Pro188His) c.666C>A (p.Thr222=) c.*1255C>A (n.*1255C>A) c.485C>A (p.Pro162His) c.536C>A (p.Pro179His) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643406G>A | CA397056485 | CYBA | c.451C>T (p.Pro151Ser) c.*752C>T (n.*752C>T) c.*789C>T (n.*789C>T) c.*458C>T (n.*458C>T) c.562C>T (p.Pro188Ser) c.665C>T (p.Thr222Ile) c.*1254C>T (n.*1254C>T) c.484C>T (p.Pro162Ser) c.535C>T (p.Pro179Ser) | gnomAD v4 |
16 | g.88643406G>C | CA397056498 | CYBA | c.451C>G (p.Pro151Ala) c.*752C>G (n.*752C>G) c.*789C>G (n.*789C>G) c.*458C>G (n.*458C>G) c.562C>G (p.Pro188Ala) c.665C>G (p.Thr222Ser) c.*1254C>G (n.*1254C>G) c.484C>G (p.Pro162Ala) c.535C>G (p.Pro179Ala) | gnomAD v4 |
16 | g.88643406G= | CA2241199620 | CYBA | c.451C= (p.Pro151=) c.*752C= (n.*752C=) c.*789C= (n.*789C=) c.*458C= (n.*458C=) c.562C= (p.Pro188=) c.665C= (p.Thr222=) c.*1254C= (n.*1254C=) c.484C= (p.Pro162=) c.535C= (p.Pro179=) | |
16 | g.88643406G>T | CA397056511 | CYBA | c.451C>A (p.Pro151Thr) c.*752C>A (n.*752C>A) c.*789C>A (n.*789C>A) c.*458C>A (n.*458C>A) c.562C>A (p.Pro188Thr) c.665C>A (p.Thr222Asn) c.*1254C>A (n.*1254C>A) c.484C>A (p.Pro162Thr) c.535C>A (p.Pro179Thr) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643406_88643407delinsGT | CA2241199621 | CYBA | c.450_451delinsAC (p.Gly150=) c.*751_*752delinsAC (n.*751_*752delinsAC) c.*788_*789delinsAC (n.*788_*789delinsAC) c.*457_*458delinsAC (n.*457_*458delinsAC) c.561_562delinsAC (p.Gly187=) c.664_665delinsAC (p.Thr222=) c.*1253_*1254delinsAC (n.*1253_*1254delinsAC) c.483_484delinsAC (p.Gly161=) c.534_535delinsAC (p.Gly178=) | |
16 | g.88643406_88643407insC | CA645573306 | CYBA | c.450_451insG (p.Pro151AlafsTer?) c.*751_*752insG (n.*751_*752insG) c.*788_*789insG (n.*788_*789insG) c.*457_*458insG (n.*457_*458insG) c.561_562insG (p.Pro188AlafsTer?) c.664_665insG (p.Thr222SerfsTer13) c.*1253_*1254insG (n.*1253_*1254insG) c.483_484insG (p.Pro162AlafsTer?) c.534_535insG (p.Pro179AlafsTer?) | COSMIC |
16 | g.88643407del | CA980332363 | CYBA | c.450del (p.Pro152ArgfsTer11) c.*751del (n.*751del) c.*788del (n.*788del) c.*457del (n.*457del) c.561del (p.Pro189ArgfsTer11) c.664del (p.Thr222ProfsTer18) c.*1253del (n.*1253del) c.483del (p.Pro163ArgfsTer11) c.534del (p.Pro180ArgfsTer11) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643407T>A | CA497362100 | CYBA | c.450A>T (p.Gly150=) c.*751A>T (n.*751A>T) c.*788A>T (n.*788A>T) c.*457A>T (n.*457A>T) c.561A>T (p.Gly187=) c.664A>T (p.Thr222Ser) c.*1253A>T (n.*1253A>T) c.483A>T (p.Gly161=) c.534A>T (p.Gly178=) | gnomAD v4 |
16 | g.88643407T>C | CA8228172 | CYBA | c.450A>G (p.Gly150=) c.*751A>G (n.*751A>G) c.*788A>G (n.*788A>G) c.*457A>G (n.*457A>G) c.561A>G (p.Gly187=) c.664A>G (p.Thr222Ala) c.*1253A>G (n.*1253A>G) c.483A>G (p.Gly161=) c.534A>G (p.Gly178=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.88643407T>G | CA497362101 | CYBA | c.450A>C (p.Gly150=) c.*751A>C (n.*751A>C) c.*788A>C (n.*788A>C) c.*457A>C (n.*457A>C) c.561A>C (p.Gly187=) c.664A>C (p.Thr222Pro) c.*1253A>C (n.*1253A>C) c.483A>C (p.Gly161=) c.534A>C (p.Gly178=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643407T= | CA2241199622 | CYBA | c.450A= (p.Gly150=) c.*751A= (n.*751A=) c.*788A= (n.*788A=) c.*457A= (n.*457A=) c.561A= (p.Gly187=) c.664A= (p.Thr222=) c.*1253A= (n.*1253A=) c.483A= (p.Gly161=) c.534A= (p.Gly178=) | |
16 | g.88643407_88643408insG | CA497362102 | CYBA | c.449_450insC (p.Pro151ThrfsTer?) c.*750_*751insC (n.*750_*751insC) c.*787_*788insC (n.*787_*788insC) c.*456_*457insC (n.*456_*457insC) c.560_561insC (p.Pro188ThrfsTer?) c.663_664insC (p.Thr222HisfsTer13) c.*1252_*1253insC (n.*1252_*1253insC) c.482_483insC (p.Pro162ThrfsTer?) c.533_534insC (p.Pro179ThrfsTer?) | |
16 | g.88643407_88643408insGC | CA1139769933 | CYBA | c.449_450insGC (p.Pro151HisfsTer13) c.*750_*751insGC (n.*750_*751insGC) c.*787_*788insGC (n.*787_*788insGC) c.*456_*457insGC (n.*456_*457insGC) c.560_561insGC (p.Pro188HisfsTer13) c.663_664insGC (p.Thr222AlafsTer19) c.*1252_*1253insGC (n.*1252_*1253insGC) c.482_483insGC (p.Pro162HisfsTer13) c.533_534insGC (p.Pro179HisfsTer13) | dbSNP |
16 | g.88643407_88643408insGCC | CA2573050821 | CYBA | c.449_450insGGC (p.Gly150_Pro151insAla) c.*750_*751insGGC (n.*750_*751insGGC) c.*787_*788insGGC (n.*787_*788insGGC) c.*456_*457insGGC (n.*456_*457insGGC) c.560_561insGGC (p.Gly187_Pro188insAla) c.663_664insGGC (p.Gly221_Thr222insGly) c.*1252_*1253insGGC (n.*1252_*1253insGGC) c.482_483insGGC (p.Gly161_Pro162insAla) c.533_534insGGC (p.Gly178_Pro179insAla) | |
16 | g.88643407_88643408insGCCCCC | CA2499214002 | CYBA | c.449_450insGGGGGC (p.Gly150_Pro151insGlyAla) c.*750_*751insGGGGGC (n.*750_*751insGGGGGC) c.*787_*788insGGGGGC (n.*787_*788insGGGGGC) c.*456_*457insGGGGGC (n.*456_*457insGGGGGC) c.560_561insGGGGGC (p.Gly187_Pro188insGlyAla) c.663_664insGGGGGC (p.Gly221_Thr222insGlyGly) c.*1252_*1253insGGGGGC (n.*1252_*1253insGGGGGC) c.482_483insGGGGGC (p.Gly161_Pro162insGlyAla) c.533_534insGGGGGC (p.Gly178_Pro179insGlyAla) | |
16 | g.88643407_88643408insGCCCCCC | CA2573320574 | CYBA | c.449_450insGGGGGGC (p.Pro151GlyfsTer?) c.*750_*751insGGGGGGC (n.*750_*751insGGGGGGC) c.*787_*788insGGGGGGC (n.*787_*788insGGGGGGC) c.*456_*457insGGGGGGC (n.*456_*457insGGGGGGC) c.560_561insGGGGGGC (p.Pro188GlyfsTer?) c.663_664insGGGGGGC (p.Thr222GlyfsTer15) c.*1252_*1253insGGGGGGC (n.*1252_*1253insGGGGGGC) c.482_483insGGGGGGC (p.Pro162GlyfsTer?) c.533_534insGGGGGGC (p.Pro179GlyfsTer?) | |
16 | g.88643407_88643408insGCCCCCCC | CA1139769932 | CYBA | c.449_450insGGGGGGGC (p.Pro151GlyfsTer15) c.*750_*751insGGGGGGGC (n.*750_*751insGGGGGGGC) c.*787_*788insGGGGGGGC (n.*787_*788insGGGGGGGC) c.*456_*457insGGGGGGGC (n.*456_*457insGGGGGGGC) c.560_561insGGGGGGGC (p.Pro188GlyfsTer15) c.663_664insGGGGGGGC (p.Thr222GlyfsTer21) c.*1252_*1253insGGGGGGGC (n.*1252_*1253insGGGGGGGC) c.482_483insGGGGGGGC (p.Pro162GlyfsTer15) c.533_534insGGGGGGGC (p.Pro179GlyfsTer15) | |
16 | g.88643407_88643408insGCCCCCCCCC | CA2573130336 | CYBA | c.449_450insGGGGGGGGGC (p.Pro151GlyfsTer?) c.*750_*751insGGGGGGGGGC (n.*750_*751insGGGGGGGGGC) c.*787_*788insGGGGGGGGGC (n.*787_*788insGGGGGGGGGC) c.*456_*457insGGGGGGGGGC (n.*456_*457insGGGGGGGGGC) c.560_561insGGGGGGGGGC (p.Pro188GlyfsTer?) c.663_664insGGGGGGGGGC (p.Thr222GlyfsTer16) c.*1252_*1253insGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGC) c.482_483insGGGGGGGGGC (p.Pro162GlyfsTer?) c.533_534insGGGGGGGGGC (p.Pro179GlyfsTer?) | |
16 | g.88643407_88643408insGCCCCCCCCCC | CA1139769880 | CYBA | c.449_450insGGGGGGGGGGC (p.Pro151GlyfsTer16) c.*750_*751insGGGGGGGGGGC (n.*750_*751insGGGGGGGGGGC) c.*787_*788insGGGGGGGGGGC (n.*787_*788insGGGGGGGGGGC) c.*456_*457insGGGGGGGGGGC (n.*456_*457insGGGGGGGGGGC) c.560_561insGGGGGGGGGGC (p.Pro188GlyfsTer16) c.663_664insGGGGGGGGGGC (p.Thr222GlyfsTer22) c.*1252_*1253insGGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGGC) c.482_483insGGGGGGGGGGC (p.Pro162GlyfsTer16) c.533_534insGGGGGGGGGGC (p.Pro179GlyfsTer16) | |
16 | g.88643407_88643408insGCCCCCCCCCCC | CA2573320656 | CYBA | c.449_450insGGGGGGGGGGGC (p.Gly150_Pro151insGlyGlyGlyAla) c.*750_*751insGGGGGGGGGGGC (n.*750_*751insGGGGGGGGGGGC) c.*787_*788insGGGGGGGGGGGC (n.*787_*788insGGGGGGGGGGGC) c.*456_*457insGGGGGGGGGGGC (n.*456_*457insGGGGGGGGGGGC) c.560_561insGGGGGGGGGGGC (p.Gly187_Pro188insGlyGlyGlyAla) c.663_664insGGGGGGGGGGGC (p.Gly221_Thr222insGlyGlyGlyGly) c.*1252_*1253insGGGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGGGC) c.482_483insGGGGGGGGGGGC (p.Gly161_Pro162insGlyGlyGlyAla) c.533_534insGGGGGGGGGGGC (p.Gly178_Pro179insGlyGlyGlyAla) | |
16 | g.88643407_88643408insGCCCCCCCCCCCC | CA1139769934 | CYBA | c.449_450insGGGGGGGGGGGGC (p.Pro151GlyfsTer?) c.*750_*751insGGGGGGGGGGGGC (n.*750_*751insGGGGGGGGGGGGC) c.*787_*788insGGGGGGGGGGGGC (n.*787_*788insGGGGGGGGGGGGC) c.*456_*457insGGGGGGGGGGGGC (n.*456_*457insGGGGGGGGGGGGC) c.560_561insGGGGGGGGGGGGC (p.Pro188GlyfsTer?) c.663_664insGGGGGGGGGGGGC (p.Thr222GlyfsTer17) c.*1252_*1253insGGGGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGGGGC) c.482_483insGGGGGGGGGGGGC (p.Pro162GlyfsTer?) c.533_534insGGGGGGGGGGGGC (p.Pro179GlyfsTer?) | |
16 | g.88643407_88643408insGCCCCCCCCCCCCCC | CA2573051180 | CYBA | c.449_450insGGGGGGGGGGGGGGC (p.Gly150_Pro151insGlyGlyGlyGlyAla) c.*750_*751insGGGGGGGGGGGGGGC (n.*750_*751insGGGGGGGGGGGGGGC) c.*787_*788insGGGGGGGGGGGGGGC (n.*787_*788insGGGGGGGGGGGGGGC) c.*456_*457insGGGGGGGGGGGGGGC (n.*456_*457insGGGGGGGGGGGGGGC) c.560_561insGGGGGGGGGGGGGGC (p.Gly187_Pro188insGlyGlyGlyGlyAla) c.663_664insGGGGGGGGGGGGGGC (p.Gly221_Thr222insGlyGlyGlyGlyGly) c.*1252_*1253insGGGGGGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGGGGGGC) c.482_483insGGGGGGGGGGGGGGC (p.Gly161_Pro162insGlyGlyGlyGlyAla) c.533_534insGGGGGGGGGGGGGGC (p.Gly178_Pro179insGlyGlyGlyGlyAla) | |
16 | g.88643407_88643408insGCCCCCCCCCCCCCCCC | CA1139532516 | CYBA | c.449_450insGGGGGGGGGGGGGGGGC (p.Pro151GlyfsTer18) c.*750_*751insGGGGGGGGGGGGGGGGC (n.*750_*751insGGGGGGGGGGGGGGGGC) c.*787_*788insGGGGGGGGGGGGGGGGC (n.*787_*788insGGGGGGGGGGGGGGGGC) c.*456_*457insGGGGGGGGGGGGGGGGC (n.*456_*457insGGGGGGGGGGGGGGGGC) c.560_561insGGGGGGGGGGGGGGGGC (p.Pro188GlyfsTer18) c.663_664insGGGGGGGGGGGGGGGGC (p.Thr222GlyfsTer24) c.*1252_*1253insGGGGGGGGGGGGGGGGC (n.*1252_*1253insGGGGGGGGGGGGGGGGC) c.482_483insGGGGGGGGGGGGGGGGC (p.Pro162GlyfsTer18) c.533_534insGGGGGGGGGGGGGGGGC (p.Pro179GlyfsTer18) | |
16 | g.88643408C>A | CA397056520 | CYBA | c.449G>T (p.Gly150Val) c.*750G>T (n.*750G>T) c.*787G>T (n.*787G>T) c.*456G>T (n.*456G>T) c.560G>T (p.Gly187Val) c.663G>T (p.Gly221=) c.*1252G>T (n.*1252G>T) c.482G>T (p.Gly161Val) c.533G>T (p.Gly178Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643408C= | CA2241199623 | CYBA | c.449G= (p.Gly150=) c.*750G= (n.*750G=) c.*787G= (n.*787G=) c.*456G= (n.*456G=) c.560G= (p.Gly187=) c.663G= (p.Gly221=) c.*1252G= (n.*1252G=) c.482G= (p.Gly161=) c.533G= (p.Gly178=) | |
16 | g.88643408C>G | CA397056529 | CYBA | c.449G>C (p.Gly150Ala) c.*750G>C (n.*750G>C) c.*787G>C (n.*787G>C) c.*456G>C (n.*456G>C) c.560G>C (p.Gly187Ala) c.663G>C (p.Gly221=) c.*1252G>C (n.*1252G>C) c.482G>C (p.Gly161Ala) c.533G>C (p.Gly178Ala) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643408C>T | CA286348134 | CYBA | c.449G>A (p.Gly150Glu) c.*750G>A (n.*750G>A) c.*787G>A (n.*787G>A) c.*456G>A (n.*456G>A) c.560G>A (p.Gly187Glu) c.663G>A (p.Gly221=) c.*1252G>A (n.*1252G>A) c.482G>A (p.Gly161Glu) c.533G>A (p.Gly178Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643413_88643414insCCCCCCCCCCCCCCC | CA2573131866 | CYBA | c.449_450insGGGGGGGGGGGGGGG (p.Gly150_Pro151insGlyGlyGlyGlyGly) c.*750_*751insGGGGGGGGGGGGGGG (n.*750_*751insGGGGGGGGGGGGGGG) c.*787_*788insGGGGGGGGGGGGGGG (n.*787_*788insGGGGGGGGGGGGGGG) c.*456_*457insGGGGGGGGGGGGGGG (n.*456_*457insGGGGGGGGGGGGGGG) c.560_561insGGGGGGGGGGGGGGG (p.Gly187_Pro188insGlyGlyGlyGlyGly) c.663_664insGGGGGGGGGGGGGGG (p.Gly221_Thr222insGlyGlyGlyGlyGly) c.*1252_*1253insGGGGGGGGGGGGGGG (n.*1252_*1253insGGGGGGGGGGGGGGG) c.482_483insGGGGGGGGGGGGGGG (p.Gly161_Pro162insGlyGlyGlyGlyGly) c.533_534insGGGGGGGGGGGGGGG (p.Gly178_Pro179insGlyGlyGlyGlyGly) | |
16 | g.88643413dup | CA286348133 | CYBA | c.449dup (p.Pro151ThrfsTer?) c.*750dup (n.*750dup) c.*787dup (n.*787dup) c.*456dup (n.*456dup) c.560dup (p.Pro188ThrfsTer?) c.663dup (p.Thr222AspfsTer13) c.*1252dup (n.*1252dup) c.482dup (p.Pro162ThrfsTer?) c.533dup (p.Pro179ThrfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643413del | CA624448040 | CYBA | c.449del (p.Gly150AspfsTer13) c.*750del (n.*750del) c.*787del (n.*787del) c.*456del (n.*456del) c.560del (p.Gly187AspfsTer13) c.663del (p.Thr222ProfsTer18) c.*1252del (n.*1252del) c.482del (p.Gly161AspfsTer13) c.533del (p.Gly178AspfsTer13) | gnomAD v2 gnomAD v4 |
16 | g.88643408_88643409insG | CA497362103 | CYBA | c.448_449insC (p.Gly150AlafsTer?) c.*749_*750insC (n.*749_*750insC) c.*786_*787insC (n.*786_*787insC) c.*455_*456insC (n.*455_*456insC) c.559_560insC (p.Gly187AlafsTer?) c.662_663insC (p.Thr222AspfsTer13) c.*1251_*1252insC (n.*1251_*1252insC) c.481_482insC (p.Gly161AlafsTer?) c.532_533insC (p.Gly178AlafsTer?) | |
16 | g.88643409C>A | CA397056534 | CYBA | c.448G>T (p.Gly150Ter) c.*749G>T (n.*749G>T) c.*786G>T (n.*786G>T) c.*455G>T (n.*455G>T) c.559G>T (p.Gly187Ter) c.662G>T (p.Gly221Val) c.*1251G>T (n.*1251G>T) c.481G>T (p.Gly161Ter) c.532G>T (p.Gly178Ter) | gnomAD v4 |
16 | g.88643409C= | CA2241199624 | CYBA | c.448G= (p.Gly150=) c.*749G= (n.*749G=) c.*786G= (n.*786G=) c.*455G= (n.*455G=) c.559G= (p.Gly187=) c.662G= (p.Gly221=) c.*1251G= (n.*1251G=) c.481G= (p.Gly161=) c.532G= (p.Gly178=) | |
16 | g.88643409C>G | CA397056538 | CYBA | c.448G>C (p.Gly150Arg) c.*749G>C (n.*749G>C) c.*786G>C (n.*786G>C) c.*455G>C (n.*455G>C) c.559G>C (p.Gly187Arg) c.662G>C (p.Gly221Ala) c.*1251G>C (n.*1251G>C) c.481G>C (p.Gly161Arg) c.532G>C (p.Gly178Arg) | |
16 | g.88643409C>T | CA397056541 | CYBA | c.448G>A (p.Gly150Arg) c.*749G>A (n.*749G>A) c.*786G>A (n.*786G>A) c.*455G>A (n.*455G>A) c.559G>A (p.Gly187Arg) c.662G>A (p.Gly221Glu) c.*1251G>A (n.*1251G>A) c.481G>A (p.Gly161Arg) c.532G>A (p.Gly178Arg) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643410C>A | CA8228173 | CYBA | c.447G>T (p.Gly149=) c.*748G>T (n.*748G>T) c.*785G>T (n.*785G>T) c.*454G>T (n.*454G>T) c.558G>T (p.Gly186=) c.661G>T (p.Gly221Trp) c.*1250G>T (n.*1250G>T) c.480G>T (p.Gly160=) c.531G>T (p.Gly177=) | dbSNP ExAC gnomAD v4 |
16 | g.88643410C= | CA2241199625 | CYBA | c.447G= (p.Gly149=) c.*748G= (n.*748G=) c.*785G= (n.*785G=) c.*454G= (n.*454G=) c.558G= (p.Gly186=) c.661G= (p.Gly221=) c.*1250G= (n.*1250G=) c.480G= (p.Gly160=) c.531G= (p.Gly177=) | |
16 | g.88643410C>G | CA497362104 | CYBA | c.447G>C (p.Gly149=) c.*748G>C (n.*748G>C) c.*785G>C (n.*785G>C) c.*454G>C (n.*454G>C) c.558G>C (p.Gly186=) c.661G>C (p.Gly221Arg) c.*1250G>C (n.*1250G>C) c.480G>C (p.Gly160=) c.531G>C (p.Gly177=) | |
16 | g.88643410C>T | CA286348135 | CYBA | c.447G>A (p.Gly149=) c.*748G>A (n.*748G>A) c.*785G>A (n.*785G>A) c.*454G>A (n.*454G>A) c.558G>A (p.Gly186=) c.661G>A (p.Gly221Arg) c.*1250G>A (n.*1250G>A) c.480G>A (p.Gly160=) c.531G>A (p.Gly177=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643411C>A | CA397056549 | CYBA | c.446G>T (p.Gly149Val) c.*747G>T (n.*747G>T) c.*784G>T (n.*784G>T) c.*453G>T (n.*453G>T) c.557G>T (p.Gly186Val) c.660G>T (p.Gly220=) c.*1249G>T (n.*1249G>T) c.479G>T (p.Gly160Val) c.530G>T (p.Gly177Val) | gnomAD v4 |
16 | g.88643411C= | CA2241199626 | CYBA | c.446G= (p.Gly149=) c.*747G= (n.*747G=) c.*784G= (n.*784G=) c.*453G= (n.*453G=) c.557G= (p.Gly186=) c.660G= (p.Gly220=) c.*1249G= (n.*1249G=) c.479G= (p.Gly160=) c.530G= (p.Gly177=) | |
16 | g.88643411C>G | CA397056552 | CYBA | c.446G>C (p.Gly149Ala) c.*747G>C (n.*747G>C) c.*784G>C (n.*784G>C) c.*453G>C (n.*453G>C) c.557G>C (p.Gly186Ala) c.660G>C (p.Gly220=) c.*1249G>C (n.*1249G>C) c.479G>C (p.Gly160Ala) c.530G>C (p.Gly177Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643411C>T | CA397056556 | CYBA | c.446G>A (p.Gly149Glu) c.*747G>A (n.*747G>A) c.*784G>A (n.*784G>A) c.*453G>A (n.*453G>A) c.557G>A (p.Gly186Glu) c.660G>A (p.Gly220=) c.*1249G>A (n.*1249G>A) c.479G>A (p.Gly160Glu) c.530G>A (p.Gly177Glu) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643412C>A | CA397056566 | CYBA | c.445G>T (p.Gly149Trp) c.*746G>T (n.*746G>T) c.*783G>T (n.*783G>T) c.*452G>T (n.*452G>T) c.556G>T (p.Gly186Trp) c.659G>T (p.Gly220Val) c.*1248G>T (n.*1248G>T) c.478G>T (p.Gly160Trp) c.529G>T (p.Gly177Trp) | dbSNP gnomAD v4 |
16 | g.88643412C= | CA2241199627 | CYBA | c.445G= (p.Gly149=) c.*746G= (n.*746G=) c.*783G= (n.*783G=) c.*452G= (n.*452G=) c.556G= (p.Gly186=) c.659G= (p.Gly220=) c.*1248G= (n.*1248G=) c.478G= (p.Gly160=) c.529G= (p.Gly177=) | |
16 | g.88643412C>G | CA8228175 | CYBA | c.445G>C (p.Gly149Arg) c.*746G>C (n.*746G>C) c.*783G>C (n.*783G>C) c.*452G>C (n.*452G>C) c.556G>C (p.Gly186Arg) c.659G>C (p.Gly220Ala) c.*1248G>C (n.*1248G>C) c.478G>C (p.Gly160Arg) c.529G>C (p.Gly177Arg) | dbSNP ExAC |
16 | g.88643412C>T | CA397056579 | CYBA | c.445G>A (p.Gly149Arg) c.*746G>A (n.*746G>A) c.*783G>A (n.*783G>A) c.*452G>A (n.*452G>A) c.556G>A (p.Gly186Arg) c.659G>A (p.Gly220Glu) c.*1248G>A (n.*1248G>A) c.478G>A (p.Gly160Arg) c.529G>A (p.Gly177Arg) | gnomAD v4 |
16 | g.88643417_88643419dup | CA8228174 | CYBA | c.443_445dup (p.Ala148_Gly149insAla) c.*744_*746dup (n.*744_*746dup) c.*781_*783dup (n.*781_*783dup) c.*450_*452dup (n.*450_*452dup) c.554_556dup (p.Ala185_Gly186insAla) c.657_659dup (p.Gly220_Gly221insGly) c.*1246_*1248dup (n.*1246_*1248dup) c.476_478dup (p.Ala159_Gly160insAla) c.527_529dup (p.Ala176_Gly177insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643413C>A | CA8228176 | CYBA | c.444G>T (p.Ala148=) c.*745G>T (n.*745G>T) c.*782G>T (n.*782G>T) c.*451G>T (n.*451G>T) c.555G>T (p.Ala185=) c.658G>T (p.Gly220Trp) c.*1247G>T (n.*1247G>T) c.477G>T (p.Ala159=) c.528G>T (p.Ala176=) | dbSNP ExAC gnomAD v4 |
16 | g.88643413C= | CA2241199628 | CYBA | c.444G= (p.Ala148=) c.*745G= (n.*745G=) c.*782G= (n.*782G=) c.*451G= (n.*451G=) c.555G= (p.Ala185=) c.658G= (p.Gly220=) c.*1247G= (n.*1247G=) c.477G= (p.Ala159=) c.528G= (p.Ala176=) | |
16 | g.88643413C>G | CA497362105 | CYBA | c.444G>C (p.Ala148=) c.*745G>C (n.*745G>C) c.*782G>C (n.*782G>C) c.*451G>C (n.*451G>C) c.555G>C (p.Ala185=) c.658G>C (p.Gly220Arg) c.*1247G>C (n.*1247G>C) c.477G>C (p.Ala159=) c.528G>C (p.Ala176=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643413C>T | CA497362106 | CYBA | c.444G>A (p.Ala148=) c.*745G>A (n.*745G>A) c.*782G>A (n.*782G>A) c.*451G>A (n.*451G>A) c.555G>A (p.Ala185=) c.658G>A (p.Gly220Arg) c.*1247G>A (n.*1247G>A) c.477G>A (p.Ala159=) c.528G>A (p.Ala176=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643414del | CA2634848130 | CYBA | c.443del (p.Ala148GlyfsTer15) c.*744del (n.*744del) c.*781del (n.*781del) c.*450del (n.*450del) c.554del (p.Ala185GlyfsTer15) c.657del (p.Thr222ProfsTer18) c.*1246del (n.*1246del) c.476del (p.Ala159GlyfsTer15) c.527del (p.Ala176GlyfsTer15) | gnomAD v4 |
16 | g.88643414G>A | CA8228178 | CYBA | c.443C>T (p.Ala148Val) c.*744C>T (n.*744C>T) c.*781C>T (n.*781C>T) c.*450C>T (n.*450C>T) c.554C>T (p.Ala185Val) c.657C>T (p.Gly219=) c.*1246C>T (n.*1246C>T) c.476C>T (p.Ala159Val) c.527C>T (p.Ala176Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643414G>C | CA397056587 | CYBA | c.443C>G (p.Ala148Gly) c.*744C>G (n.*744C>G) c.*781C>G (n.*781C>G) c.*450C>G (n.*450C>G) c.554C>G (p.Ala185Gly) c.657C>G (p.Gly219=) c.*1246C>G (n.*1246C>G) c.476C>G (p.Ala159Gly) c.527C>G (p.Ala176Gly) | dbSNP gnomAD v4 |
16 | g.88643414G= | CA2241199630 | CYBA | c.443C= (p.Ala148=) c.*744C= (n.*744C=) c.*781C= (n.*781C=) c.*450C= (n.*450C=) c.554C= (p.Ala185=) c.657C= (p.Gly219=) c.*1246C= (n.*1246C=) c.476C= (p.Ala159=) c.527C= (p.Ala176=) | |
16 | g.88643414G>T | CA397056589 | CYBA | c.443C>A (p.Ala148Glu) c.*744C>A (n.*744C>A) c.*781C>A (n.*781C>A) c.*450C>A (n.*450C>A) c.554C>A (p.Ala185Glu) c.657C>A (p.Gly219=) c.*1246C>A (n.*1246C>A) c.476C>A (p.Ala159Glu) c.527C>A (p.Ala176Glu) | gnomAD v2 gnomAD v4 |
16 | g.88643414_88643420delinsGCCGCCA | CA2241199629 | CYBA | c.437_443delinsTGGCGGC (p.Val146=) c.*738_*744delinsTGGCGGC (n.*738_*744delinsTGGCGGC) c.*775_*781delinsTGGCGGC (n.*775_*781delinsTGGCGGC) c.*444_*450delinsTGGCGGC (n.*444_*450delinsTGGCGGC) c.548_554delinsTGGCGGC (p.Val183=) c.651_657delinsTGGCGGC (p.Gly217=) c.*1240_*1246delinsTGGCGGC (n.*1240_*1246delinsTGGCGGC) c.470_476delinsTGGCGGC (p.Val157=) c.521_527delinsTGGCGGC (p.Val174=) | |
16 | g.88643415C>A | CA8228180 | CYBA | c.442G>T (p.Ala148Ser) c.*743G>T (n.*743G>T) c.*780G>T (n.*780G>T) c.*449G>T (n.*449G>T) c.553G>T (p.Ala185Ser) c.656G>T (p.Gly219Val) c.*1245G>T (n.*1245G>T) c.475G>T (p.Ala159Ser) c.526G>T (p.Ala176Ser) | dbSNP ExAC gnomAD v4 |
16 | g.88643415C= | CA2241199631 | CYBA | c.442G= (p.Ala148=) c.*743G= (n.*743G=) c.*780G= (n.*780G=) c.*449G= (n.*449G=) c.553G= (p.Ala185=) c.656G= (p.Gly219=) c.*1245G= (n.*1245G=) c.475G= (p.Ala159=) c.526G= (p.Ala176=) | |
16 | g.88643415C>G | CA397056595 | CYBA | c.442G>C (p.Ala148Pro) c.*743G>C (n.*743G>C) c.*780G>C (n.*780G>C) c.*449G>C (n.*449G>C) c.553G>C (p.Ala185Pro) c.656G>C (p.Gly219Ala) c.*1245G>C (n.*1245G>C) c.475G>C (p.Ala159Pro) c.526G>C (p.Ala176Pro) | |
16 | g.88643415C>T | CA8228179 | CYBA | c.442G>A (p.Ala148Thr) c.*743G>A (n.*743G>A) c.*780G>A (n.*780G>A) c.*449G>A (n.*449G>A) c.553G>A (p.Ala185Thr) c.656G>A (p.Gly219Asp) c.*1245G>A (n.*1245G>A) c.475G>A (p.Ala159Thr) c.526G>A (p.Ala176Thr) | dbSNP ExAC gnomAD v4 |
16 | g.88643419_88643424del | CA8228177 | CYBA | c.437_442del (p.Val146_Ala147del) c.*738_*743del (n.*738_*743del) c.*775_*780del (n.*775_*780del) c.*444_*449del (n.*444_*449del) c.548_553del (p.Val183_Ala184del) c.651_656del (p.Gly218_Gly219del) c.*1240_*1245del (n.*1240_*1245del) c.470_475del (p.Val157_Ala158del) c.521_526del (p.Val174_Ala175del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643416C>A | CA8228181 | CYBA | c.441G>T (p.Ala147=) c.*742G>T (n.*742G>T) c.*779G>T (n.*779G>T) c.*448G>T (n.*448G>T) c.552G>T (p.Ala184=) c.655G>T (p.Gly219Cys) c.*1244G>T (n.*1244G>T) c.474G>T (p.Ala158=) c.525G>T (p.Ala175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643416C= | CA2241199632 | CYBA | c.441G= (p.Ala147=) c.*742G= (n.*742G=) c.*779G= (n.*779G=) c.*448G= (n.*448G=) c.552G= (p.Ala184=) c.655G= (p.Gly219=) c.*1244G= (n.*1244G=) c.474G= (p.Ala158=) c.525G= (p.Ala175=) | |
16 | g.88643416C>G | CA497362107 | CYBA | c.441G>C (p.Ala147=) c.*742G>C (n.*742G>C) c.*779G>C (n.*779G>C) c.*448G>C (n.*448G>C) c.552G>C (p.Ala184=) c.655G>C (p.Gly219Arg) c.*1244G>C (n.*1244G>C) c.474G>C (p.Ala158=) c.525G>C (p.Ala175=) | |
16 | g.88643416C>T | CA8228182 | CYBA | c.441G>A (p.Ala147=) c.*742G>A (n.*742G>A) c.*779G>A (n.*779G>A) c.*448G>A (n.*448G>A) c.552G>A (p.Ala184=) c.655G>A (p.Gly219Ser) c.*1244G>A (n.*1244G>A) c.474G>A (p.Ala158=) c.525G>A (p.Ala175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643417G>A | CA8228184 | CYBA | c.440C>T (p.Ala147Val) c.*741C>T (n.*741C>T) c.*778C>T (n.*778C>T) c.*447C>T (n.*447C>T) c.551C>T (p.Ala184Val) c.654C>T (p.Gly218=) c.*1243C>T (n.*1243C>T) c.473C>T (p.Ala158Val) c.524C>T (p.Ala175Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643417G>C | CA286348169 | CYBA | c.440C>G (p.Ala147Gly) c.*741C>G (n.*741C>G) c.*778C>G (n.*778C>G) c.*447C>G (n.*447C>G) c.551C>G (p.Ala184Gly) c.654C>G (p.Gly218=) c.*1243C>G (n.*1243C>G) c.473C>G (p.Ala158Gly) c.524C>G (p.Ala175Gly) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643417G= | CA2241199634 | CYBA | c.440C= (p.Ala147=) c.*741C= (n.*741C=) c.*778C= (n.*778C=) c.*447C= (n.*447C=) c.551C= (p.Ala184=) c.654C= (p.Gly218=) c.*1243C= (n.*1243C=) c.473C= (p.Ala158=) c.524C= (p.Ala175=) | |
16 | g.88643417G>T | CA397056609 | CYBA | c.440C>A (p.Ala147Glu) c.*741C>A (n.*741C>A) c.*778C>A (n.*778C>A) c.*447C>A (n.*447C>A) c.551C>A (p.Ala184Glu) c.654C>A (p.Gly218=) c.*1243C>A (n.*1243C>A) c.473C>A (p.Ala158Glu) c.524C>A (p.Ala175Glu) | gnomAD v4 |
16 | g.88643417_88643420delinsGCCA | CA2241199633 | CYBA | c.437_440delinsTGGC (p.Val146=) c.*738_*741delinsTGGC (n.*738_*741delinsTGGC) c.*775_*778delinsTGGC (n.*775_*778delinsTGGC) c.*444_*447delinsTGGC (n.*444_*447delinsTGGC) c.548_551delinsTGGC (p.Val183=) c.651_654delinsTGGC (p.Gly217=) c.*1240_*1243delinsTGGC (n.*1240_*1243delinsTGGC) c.470_473delinsTGGC (p.Val157=) c.521_524delinsTGGC (p.Val174=) | |
16 | g.88643418C>A | CA397056635 | CYBA | c.439G>T (p.Ala147Ser) c.*740G>T (n.*740G>T) c.*777G>T (n.*777G>T) c.*446G>T (n.*446G>T) c.550G>T (p.Ala184Ser) c.653G>T (p.Gly218Val) c.*1242G>T (n.*1242G>T) c.472G>T (p.Ala158Ser) c.523G>T (p.Ala175Ser) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643418C= | CA2241199635 | CYBA | c.439G= (p.Ala147=) c.*740G= (n.*740G=) c.*777G= (n.*777G=) c.*446G= (n.*446G=) c.550G= (p.Ala184=) c.653G= (p.Gly218=) c.*1242G= (n.*1242G=) c.472G= (p.Ala158=) c.523G= (p.Ala175=) | |
16 | g.88643418C>G | CA397056636 | CYBA | c.439G>C (p.Ala147Pro) c.*740G>C (n.*740G>C) c.*777G>C (n.*777G>C) c.*446G>C (n.*446G>C) c.550G>C (p.Ala184Pro) c.653G>C (p.Gly218Ala) c.*1242G>C (n.*1242G>C) c.472G>C (p.Ala158Pro) c.523G>C (p.Ala175Pro) | |
16 | g.88643418C>T | CA397056633 | CYBA | c.439G>A (p.Ala147Thr) c.*740G>A (n.*740G>A) c.*777G>A (n.*777G>A) c.*446G>A (n.*446G>A) c.550G>A (p.Ala184Thr) c.653G>A (p.Gly218Asp) c.*1242G>A (n.*1242G>A) c.472G>A (p.Ala158Thr) c.523G>A (p.Ala175Thr) | gnomAD v4 |
16 | g.88643420_88643422del | CA8228183 | CYBA | c.437_439del (p.Val146del) c.*738_*740del (n.*738_*740del) c.*775_*777del (n.*775_*777del) c.*444_*446del (n.*444_*446del) c.548_550del (p.Val183del) c.651_653del (p.Gly218del) c.*1240_*1242del (n.*1240_*1242del) c.470_472del (p.Val157del) c.521_523del (p.Val174del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643419C>A | CA497362109 | CYBA | c.438G>T (p.Val146=) c.*739G>T (n.*739G>T) c.*776G>T (n.*776G>T) c.*445G>T (n.*445G>T) c.549G>T (p.Val183=) c.652G>T (p.Gly218Cys) c.*1241G>T (n.*1241G>T) c.471G>T (p.Val157=) c.522G>T (p.Val174=) | |
16 | g.88643419C= | CA2241199636 | CYBA | c.438G= (p.Val146=) c.*739G= (n.*739G=) c.*776G= (n.*776G=) c.*445G= (n.*445G=) c.549G= (p.Val183=) c.652G= (p.Gly218=) c.*1241G= (n.*1241G=) c.471G= (p.Val157=) c.522G= (p.Val174=) | |
16 | g.88643419C>G | CA497362108 | CYBA | c.438G>C (p.Val146=) c.*739G>C (n.*739G>C) c.*776G>C (n.*776G>C) c.*445G>C (n.*445G>C) c.549G>C (p.Val183=) c.652G>C (p.Gly218Arg) c.*1241G>C (n.*1241G>C) c.471G>C (p.Val157=) c.522G>C (p.Val174=) | |
16 | g.88643419C>T | CA497362110 | CYBA | c.438G>A (p.Val146=) c.*739G>A (n.*739G>A) c.*776G>A (n.*776G>A) c.*445G>A (n.*445G>A) c.549G>A (p.Val183=) c.652G>A (p.Gly218Ser) c.*1241G>A (n.*1241G>A) c.471G>A (p.Val157=) c.522G>A (p.Val174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643419_88643420delinsTG | CA2499223734 | CYBA | c.437_438delinsCA (p.Val146Ala) c.*738_*739delinsCA (n.*738_*739delinsCA) c.*775_*776delinsCA (n.*775_*776delinsCA) c.*444_*445delinsCA (n.*444_*445delinsCA) c.548_549delinsCA (p.Val183Ala) c.651_652delinsCA (p.Gly218Ser) c.*1240_*1241delinsCA (n.*1240_*1241delinsCA) c.470_471delinsCA (p.Val157Ala) c.521_522delinsCA (p.Val174Ala) | ClinVar |
16 | g.88643420A= | CA2241199637 | CYBA | c.437T= (p.Val146=) c.*738T= (n.*738T=) c.*775T= (n.*775T=) c.*444T= (n.*444T=) c.548T= (p.Val183=) c.651T= (p.Gly217=) c.*1240T= (n.*1240T=) c.470T= (p.Val157=) c.521T= (p.Val174=) | |
16 | g.88643420A>C | CA397056638 | CYBA | c.437T>G (p.Val146Gly) c.*738T>G (n.*738T>G) c.*775T>G (n.*775T>G) c.*444T>G (n.*444T>G) c.548T>G (p.Val183Gly) c.651T>G (p.Gly217=) c.*1240T>G (n.*1240T>G) c.470T>G (p.Val157Gly) c.521T>G (p.Val174Gly) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643420A>G | CA203198 | CYBA | c.437T>C (p.Val146Ala) c.*738T>C (n.*738T>C) c.*775T>C (n.*775T>C) c.*444T>C (n.*444T>C) c.548T>C (p.Val183Ala) c.651T>C (p.Gly217=) c.*1240T>C (n.*1240T>C) c.470T>C (p.Val157Ala) c.521T>C (p.Val174Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643420A>T | CA397056644 | CYBA | c.437T>A (p.Val146Glu) c.*738T>A (n.*738T>A) c.*775T>A (n.*775T>A) c.*444T>A (n.*444T>A) c.548T>A (p.Val183Glu) c.651T>A (p.Gly217=) c.*1240T>A (n.*1240T>A) c.470T>A (p.Val157Glu) c.521T>A (p.Val174Glu) | gnomAD v4 |
16 | g.88643420delinsGCCG | CA2697556006 | CYBA | c.437delinsCGGC (p.Val146delinsAlaAla) c.*738delinsCGGC (n.*738delinsCGGC) c.*775delinsCGGC (n.*775delinsCGGC) c.*444delinsCGGC (n.*444delinsCGGC) c.548delinsCGGC (p.Val183delinsAlaAla) c.651delinsCGGC (p.Gly217_Gly218insGly) c.*1240delinsCGGC (n.*1240delinsCGGC) c.470delinsCGGC (p.Val157delinsAlaAla) c.521delinsCGGC (p.Val174delinsAlaAla) | ClinVar |
16 | g.88643421C>A | CA397056647 | CYBA | c.436G>T (p.Val146Leu) c.*737G>T (n.*737G>T) c.*774G>T (n.*774G>T) c.*443G>T (n.*443G>T) c.547G>T (p.Val183Leu) c.650G>T (p.Gly217Val) c.*1239G>T (n.*1239G>T) c.469G>T (p.Val157Leu) c.520G>T (p.Val174Leu) | gnomAD v4 |
16 | g.88643421C= | CA2241199638 | CYBA | c.436G= (p.Val146=) c.*737G= (n.*737G=) c.*774G= (n.*774G=) c.*443G= (n.*443G=) c.547G= (p.Val183=) c.650G= (p.Gly217=) c.*1239G= (n.*1239G=) c.469G= (p.Val157=) c.520G= (p.Val174=) | |
16 | g.88643421C>G | CA397056648 | CYBA | c.436G>C (p.Val146Leu) c.*737G>C (n.*737G>C) c.*774G>C (n.*774G>C) c.*443G>C (n.*443G>C) c.547G>C (p.Val183Leu) c.650G>C (p.Gly217Ala) c.*1239G>C (n.*1239G>C) c.469G>C (p.Val157Leu) c.520G>C (p.Val174Leu) | gnomAD v4 |
16 | g.88643421C>T | CA397056649 | CYBA | c.436G>A (p.Val146Met) c.*737G>A (n.*737G>A) c.*774G>A (n.*774G>A) c.*443G>A (n.*443G>A) c.547G>A (p.Val183Met) c.650G>A (p.Gly217Asp) c.*1239G>A (n.*1239G>A) c.469G>A (p.Val157Met) c.520G>A (p.Val174Met) | dbSNP gnomAD v4 |
16 | g.88643422_88643424del | CA2634848171 | CYBA | c.434_436del (p.Ala145del) c.*735_*737del (n.*735_*737del) c.*772_*774del (n.*772_*774del) c.*441_*443del (n.*441_*443del) c.545_547del (p.Ala182del) c.648_650del (p.Gly217del) c.*1237_*1239del (n.*1237_*1239del) c.467_469del (p.Ala156del) c.518_520del (p.Ala173del) | gnomAD v4 |
16 | g.88643422C>A | CA8228185 | CYBA | c.435G>T (p.Ala145=) c.*736G>T (n.*736G>T) c.*773G>T (n.*773G>T) c.*442G>T (n.*442G>T) c.546G>T (p.Ala182=) c.649G>T (p.Gly217Cys) c.*1238G>T (n.*1238G>T) c.468G>T (p.Ala156=) c.519G>T (p.Ala173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643422C= | CA2241199639 | CYBA | c.435G= (p.Ala145=) c.*736G= (n.*736G=) c.*773G= (n.*773G=) c.*442G= (n.*442G=) c.546G= (p.Ala182=) c.649G= (p.Gly217=) c.*1238G= (n.*1238G=) c.468G= (p.Ala156=) c.519G= (p.Ala173=) | |
16 | g.88643422C>G | CA497362111 | CYBA | c.435G>C (p.Ala145=) c.*736G>C (n.*736G>C) c.*773G>C (n.*773G>C) c.*442G>C (n.*442G>C) c.546G>C (p.Ala182=) c.649G>C (p.Gly217Arg) c.*1238G>C (n.*1238G>C) c.468G>C (p.Ala156=) c.519G>C (p.Ala173=) | |
16 | g.88643422C>T | CA286348204 | CYBA | c.435G>A (p.Ala145=) c.*736G>A (n.*736G>A) c.*773G>A (n.*773G>A) c.*442G>A (n.*442G>A) c.546G>A (p.Ala182=) c.649G>A (p.Gly217Ser) c.*1238G>A (n.*1238G>A) c.468G>A (p.Ala156=) c.519G>A (p.Ala173=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643423G>A | CA397056657 | CYBA | c.434C>T (p.Ala145Val) c.*735C>T (n.*735C>T) c.*772C>T (n.*772C>T) c.*441C>T (n.*441C>T) c.545C>T (p.Ala182Val) c.648C>T (p.Cys216=) c.*1237C>T (n.*1237C>T) c.467C>T (p.Ala156Val) c.518C>T (p.Ala173Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643423G>C | CA397056662 | CYBA | c.434C>G (p.Ala145Gly) c.*735C>G (n.*735C>G) c.*772C>G (n.*772C>G) c.*441C>G (n.*441C>G) c.545C>G (p.Ala182Gly) c.648C>G (p.Cys216Trp) c.*1237C>G (n.*1237C>G) c.467C>G (p.Ala156Gly) c.518C>G (p.Ala173Gly) | dbSNP |
16 | g.88643423G= | CA2241199640 | CYBA | c.434C= (p.Ala145=) c.*735C= (n.*735C=) c.*772C= (n.*772C=) c.*441C= (n.*441C=) c.545C= (p.Ala182=) c.648C= (p.Cys216=) c.*1237C= (n.*1237C=) c.467C= (p.Ala156=) c.518C= (p.Ala173=) | |
16 | g.88643423G>T | CA8228186 | CYBA | c.434C>A (p.Ala145Glu) c.*735C>A (n.*735C>A) c.*772C>A (n.*772C>A) c.*441C>A (n.*441C>A) c.545C>A (p.Ala182Glu) c.648C>A (p.Cys216Ter) c.*1237C>A (n.*1237C>A) c.467C>A (p.Ala156Glu) c.518C>A (p.Ala173Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.88643424C>A | CA397056665 | CYBA | c.433G>T (p.Ala145Ser) c.*734G>T (n.*734G>T) c.*771G>T (n.*771G>T) c.*440G>T (n.*440G>T) c.544G>T (p.Ala182Ser) c.647G>T (p.Cys216Phe) c.*1236G>T (n.*1236G>T) c.466G>T (p.Ala156Ser) c.517G>T (p.Ala173Ser) | |
16 | g.88643424C>G | CA397056666 | CYBA | c.433G>C (p.Ala145Pro) c.*734G>C (n.*734G>C) c.*771G>C (n.*771G>C) c.*440G>C (n.*440G>C) c.544G>C (p.Ala182Pro) c.647G>C (p.Cys216Ser) c.*1236G>C (n.*1236G>C) c.466G>C (p.Ala156Pro) c.517G>C (p.Ala173Pro) | |
16 | g.88643424C>T | CA397056671 | CYBA | c.433G>A (p.Ala145Thr) c.*734G>A (n.*734G>A) c.*771G>A (n.*771G>A) c.*440G>A (n.*440G>A) c.544G>A (p.Ala182Thr) c.647G>A (p.Cys216Tyr) c.*1236G>A (n.*1236G>A) c.466G>A (p.Ala156Thr) c.517G>A (p.Ala173Thr) | gnomAD v3 gnomAD v4 |
16 | g.88643425A= | CA2241199641 | CYBA | c.432T= (p.Ala144=) c.*733T= (n.*733T=) c.*770T= (n.*770T=) c.*439T= (n.*439T=) c.543T= (p.Ala181=) c.646T= (p.Cys216=) c.*1235T= (n.*1235T=) c.465T= (p.Ala155=) c.516T= (p.Ala172=) | |
16 | g.88643425A>C | CA497362112 | CYBA | c.432T>G (p.Ala144=) c.*733T>G (n.*733T>G) c.*770T>G (n.*770T>G) c.*439T>G (n.*439T>G) c.543T>G (p.Ala181=) c.646T>G (p.Cys216Gly) c.*1235T>G (n.*1235T>G) c.465T>G (p.Ala155=) c.516T>G (p.Ala172=) | ClinVar dbSNP gnomAD v4 |
16 | g.88643425A>G | CA497362113 | CYBA | c.432T>C (p.Ala144=) c.*733T>C (n.*733T>C) c.*770T>C (n.*770T>C) c.*439T>C (n.*439T>C) c.543T>C (p.Ala181=) c.646T>C (p.Cys216Arg) c.*1235T>C (n.*1235T>C) c.465T>C (p.Ala155=) c.516T>C (p.Ala172=) | gnomAD v4 |
16 | g.88643425A>T | CA497362114 | CYBA | c.432T>A (p.Ala144=) c.*733T>A (n.*733T>A) c.*770T>A (n.*770T>A) c.*439T>A (n.*439T>A) c.543T>A (p.Ala181=) c.646T>A (p.Cys216Ser) c.*1235T>A (n.*1235T>A) c.465T>A (p.Ala155=) c.516T>A (p.Ala172=) | |
16 | g.88643425_88643426del | CA1139769936 | CYBA | c.431_432del (p.Ala144GlyfsTer?) c.*732_*733del (n.*732_*733del) c.*769_*770del (n.*769_*770del) c.*438_*439del (n.*438_*439del) c.542_543del (p.Ala181GlyfsTer?) c.645_646del (p.Cys216ArgfsTer18) c.*1234_*1235del (n.*1234_*1235del) c.464_465del (p.Ala155GlyfsTer?) c.515_516del (p.Ala172GlyfsTer?) | |
16 | g.88643426G>A | CA397056677 | CYBA | c.431C>T (p.Ala144Val) c.*732C>T (n.*732C>T) c.*769C>T (n.*769C>T) c.*438C>T (n.*438C>T) c.542C>T (p.Ala181Val) c.645C>T (p.Gly215=) c.*1234C>T (n.*1234C>T) c.464C>T (p.Ala155Val) c.515C>T (p.Ala172Val) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643426G>C | CA397056683 | CYBA | c.431C>G (p.Ala144Gly) c.*732C>G (n.*732C>G) c.*769C>G (n.*769C>G) c.*438C>G (n.*438C>G) c.542C>G (p.Ala181Gly) c.645C>G (p.Gly215=) c.*1234C>G (n.*1234C>G) c.464C>G (p.Ala155Gly) c.515C>G (p.Ala172Gly) | ClinVar dbSNP gnomAD v4 |
16 | g.88643426G= | CA2241199642 | CYBA | c.431C= (p.Ala144=) c.*732C= (n.*732C=) c.*769C= (n.*769C=) c.*438C= (n.*438C=) c.542C= (p.Ala181=) c.645C= (p.Gly215=) c.*1234C= (n.*1234C=) c.464C= (p.Ala155=) c.515C= (p.Ala172=) | |
16 | g.88643426G>T | CA397056681 | CYBA | c.431C>A (p.Ala144Asp) c.*732C>A (n.*732C>A) c.*769C>A (n.*769C>A) c.*438C>A (n.*438C>A) c.542C>A (p.Ala181Asp) c.645C>A (p.Gly215=) c.*1234C>A (n.*1234C>A) c.464C>A (p.Ala155Asp) c.515C>A (p.Ala172Asp) | gnomAD v4 |
16 | g.88643426_88643429delinsGCCT | CA2241199643 | CYBA | c.428_431delinsAGGC (p.Glu143=) c.*729_*732delinsAGGC (n.*729_*732delinsAGGC) c.*766_*769delinsAGGC (n.*766_*769delinsAGGC) c.*435_*438delinsAGGC (n.*435_*438delinsAGGC) c.539_542delinsAGGC (p.Glu180=) c.642_645delinsAGGC (p.Gly214=) c.*1231_*1234delinsAGGC (n.*1231_*1234delinsAGGC) c.461_464delinsAGGC (p.Glu154=) c.512_515delinsAGGC (p.Glu171=) | |
16 | g.88643427C>A | CA397056690 | CYBA | c.430G>T (p.Ala144Ser) c.*731G>T (n.*731G>T) c.*768G>T (n.*768G>T) c.*437G>T (n.*437G>T) c.541G>T (p.Ala181Ser) c.644G>T (p.Gly215Val) c.*1233G>T (n.*1233G>T) c.463G>T (p.Ala155Ser) c.514G>T (p.Ala172Ser) | gnomAD v4 COSMIC |
16 | g.88643427C= | CA2241199644 | CYBA | c.430G= (p.Ala144=) c.*731G= (n.*731G=) c.*768G= (n.*768G=) c.*437G= (n.*437G=) c.541G= (p.Ala181=) c.644G= (p.Gly215=) c.*1233G= (n.*1233G=) c.463G= (p.Ala155=) c.514G= (p.Ala172=) | |
16 | g.88643427C>G | CA397056695 | CYBA | c.430G>C (p.Ala144Pro) c.*731G>C (n.*731G>C) c.*768G>C (n.*768G>C) c.*437G>C (n.*437G>C) c.541G>C (p.Ala181Pro) c.644G>C (p.Gly215Ala) c.*1233G>C (n.*1233G>C) c.463G>C (p.Ala155Pro) c.514G>C (p.Ala172Pro) | |
16 | g.88643427C>T | CA286348210 | CYBA | c.430G>A (p.Ala144Thr) c.*731G>A (n.*731G>A) c.*768G>A (n.*768G>A) c.*437G>A (n.*437G>A) c.541G>A (p.Ala181Thr) c.644G>A (p.Gly215Asp) c.*1233G>A (n.*1233G>A) c.463G>A (p.Ala155Thr) c.514G>A (p.Ala172Thr) | dbSNP gnomAD v4 |
16 | g.88643434_88643436del | CA980332376 | CYBA | c.428_430del (p.Glu143del) c.*729_*731del (n.*729_*731del) c.*766_*768del (n.*766_*768del) c.*435_*437del (n.*435_*437del) c.539_541del (p.Glu180del) c.642_644del (p.Gly215del) c.*1231_*1233del (n.*1231_*1233del) c.461_463del (p.Glu154del) c.512_514del (p.Glu171del) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643428C>A | CA397056705 | CYBA | c.429G>T (p.Glu143Asp) c.*730G>T (n.*730G>T) c.*767G>T (n.*767G>T) c.*436G>T (n.*436G>T) c.540G>T (p.Glu180Asp) c.643G>T (p.Gly215Cys) c.*1232G>T (n.*1232G>T) c.462G>T (p.Glu154Asp) c.513G>T (p.Glu171Asp) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.88643428C= | CA2241199645 | CYBA | c.429G= (p.Glu143=) c.*730G= (n.*730G=) c.*767G= (n.*767G=) c.*436G= (n.*436G=) c.540G= (p.Glu180=) c.643G= (p.Gly215=) c.*1232G= (n.*1232G=) c.462G= (p.Glu154=) c.513G= (p.Glu171=) | |
16 | g.88643428C>G | CA397056717 | CYBA | c.429G>C (p.Glu143Asp) c.*730G>C (n.*730G>C) c.*767G>C (n.*767G>C) c.*436G>C (n.*436G>C) c.540G>C (p.Glu180Asp) c.643G>C (p.Gly215Arg) c.*1232G>C (n.*1232G>C) c.462G>C (p.Glu154Asp) c.513G>C (p.Glu171Asp) | |
16 | g.88643428C>T | CA497362115 | CYBA | c.429G>A (p.Glu143=) c.*730G>A (n.*730G>A) c.*767G>A (n.*767G>A) c.*436G>A (n.*436G>A) c.540G>A (p.Glu180=) c.643G>A (p.Gly215Ser) c.*1232G>A (n.*1232G>A) c.462G>A (p.Glu154=) c.513G>A (p.Glu171=) | |
16 | g.88643429T>A | CA397056722 | CYBA | c.428A>T (p.Glu143Val) c.*729A>T (n.*729A>T) c.*766A>T (n.*766A>T) c.*435A>T (n.*435A>T) c.539A>T (p.Glu180Val) c.642A>T (p.Gly214=) c.*1231A>T (n.*1231A>T) c.461A>T (p.Glu154Val) c.512A>T (p.Glu171Val) | gnomAD v4 |
16 | g.88643429T>C | CA286348211 | CYBA | c.428A>G (p.Glu143Gly) c.*729A>G (n.*729A>G) c.*766A>G (n.*766A>G) c.*435A>G (n.*435A>G) c.539A>G (p.Glu180Gly) c.642A>G (p.Gly214=) c.*1231A>G (n.*1231A>G) c.461A>G (p.Glu154Gly) c.512A>G (p.Glu171Gly) | dbSNP gnomAD v4 |
16 | g.88643429T>G | CA397056727 | CYBA | c.428A>C (p.Glu143Ala) c.*729A>C (n.*729A>C) c.*766A>C (n.*766A>C) c.*435A>C (n.*435A>C) c.539A>C (p.Glu180Ala) c.642A>C (p.Gly214=) c.*1231A>C (n.*1231A>C) c.461A>C (p.Glu154Ala) c.512A>C (p.Glu171Ala) | gnomAD v4 |
16 | g.88643430C>A | CA8228187 | CYBA | c.427G>T (p.Glu143Ter) c.*728G>T (n.*728G>T) c.*765G>T (n.*765G>T) c.*434G>T (n.*434G>T) c.538G>T (p.Glu180Ter) c.641G>T (p.Gly214Val) c.*1230G>T (n.*1230G>T) c.460G>T (p.Glu154Ter) c.511G>T (p.Glu171Ter) | ClinVar dbSNP ExAC gnomAD v4 |
16 | g.88643430C= | CA2241199646 | CYBA | c.427G= (p.Glu143=) c.*728G= (n.*728G=) c.*765G= (n.*765G=) c.*434G= (n.*434G=) c.538G= (p.Glu180=) c.641G= (p.Gly214=) c.*1230G= (n.*1230G=) c.460G= (p.Glu154=) c.511G= (p.Glu171=) | |
16 | g.88643430C>G | CA397056738 | CYBA | c.427G>C (p.Glu143Gln) c.*728G>C (n.*728G>C) c.*765G>C (n.*765G>C) c.*434G>C (n.*434G>C) c.538G>C (p.Glu180Gln) c.641G>C (p.Gly214Ala) c.*1230G>C (n.*1230G>C) c.460G>C (p.Glu154Gln) c.511G>C (p.Glu171Gln) | |
16 | g.88643430C>T | CA397056751 | CYBA | c.427G>A (p.Glu143Lys) c.*728G>A (n.*728G>A) c.*765G>A (n.*765G>A) c.*434G>A (n.*434G>A) c.538G>A (p.Glu180Lys) c.641G>A (p.Gly214Glu) c.*1230G>A (n.*1230G>A) c.460G>A (p.Glu154Lys) c.511G>A (p.Glu171Lys) | gnomAD v4 |
16 | g.88643431C>A | CA397056761 | CYBA | c.426G>T (p.Glu142Asp) c.*727G>T (n.*727G>T) c.*764G>T (n.*764G>T) c.*433G>T (n.*433G>T) c.537G>T (p.Glu179Asp) c.640G>T (p.Gly214Ter) c.*1229G>T (n.*1229G>T) c.459G>T (p.Glu153Asp) c.510G>T (p.Glu170Asp) | |
16 | g.88643431C>G | CA397056756 | CYBA | c.426G>C (p.Glu142Asp) c.*727G>C (n.*727G>C) c.*764G>C (n.*764G>C) c.*433G>C (n.*433G>C) c.537G>C (p.Glu179Asp) c.640G>C (p.Gly214Arg) c.*1229G>C (n.*1229G>C) c.459G>C (p.Glu153Asp) c.510G>C (p.Glu170Asp) | |
16 | g.88643431C>T | CA497362116 | CYBA | c.426G>A (p.Glu142=) c.*727G>A (n.*727G>A) c.*764G>A (n.*764G>A) c.*433G>A (n.*433G>A) c.537G>A (p.Glu179=) c.640G>A (p.Gly214Arg) c.*1229G>A (n.*1229G>A) c.459G>A (p.Glu153=) c.510G>A (p.Glu170=) | gnomAD v4 |
16 | g.88643432T>A | CA397056762 | CYBA | c.425A>T (p.Glu142Val) c.*726A>T (n.*726A>T) c.*763A>T (n.*763A>T) c.*432A>T (n.*432A>T) c.536A>T (p.Glu179Val) c.639A>T (p.Gly213=) c.*1228A>T (n.*1228A>T) c.458A>T (p.Glu153Val) c.509A>T (p.Glu170Val) | gnomAD v4 |
16 | g.88643432T>C | CA397056766 | CYBA | c.425A>G (p.Glu142Gly) c.*726A>G (n.*726A>G) c.*763A>G (n.*763A>G) c.*432A>G (n.*432A>G) c.536A>G (p.Glu179Gly) c.639A>G (p.Gly213=) c.*1228A>G (n.*1228A>G) c.458A>G (p.Glu153Gly) c.509A>G (p.Glu170Gly) | |
16 | g.88643432T>G | CA397056763 | CYBA | c.425A>C (p.Glu142Ala) c.*726A>C (n.*726A>C) c.*763A>C (n.*763A>C) c.*432A>C (n.*432A>C) c.536A>C (p.Glu179Ala) c.639A>C (p.Gly213=) c.*1228A>C (n.*1228A>C) c.458A>C (p.Glu153Ala) c.509A>C (p.Glu170Ala) | |
16 | g.88643433C>A | CA397056774 | CYBA | c.424G>T (p.Glu142Ter) c.*725G>T (n.*725G>T) c.*762G>T (n.*762G>T) c.*431G>T (n.*431G>T) c.535G>T (p.Glu179Ter) c.638G>T (p.Gly213Val) c.*1227G>T (n.*1227G>T) c.457G>T (p.Glu153Ter) c.508G>T (p.Glu170Ter) | gnomAD v4 |
16 | g.88643433C>G | CA397056782 | CYBA | c.424G>C (p.Glu142Gln) c.*725G>C (n.*725G>C) c.*762G>C (n.*762G>C) c.*431G>C (n.*431G>C) c.535G>C (p.Glu179Gln) c.638G>C (p.Gly213Ala) c.*1227G>C (n.*1227G>C) c.457G>C (p.Glu153Gln) c.508G>C (p.Glu170Gln) | |
16 | g.88643433C>T | CA397056779 | CYBA | c.424G>A (p.Glu142Lys) c.*725G>A (n.*725G>A) c.*762G>A (n.*762G>A) c.*431G>A (n.*431G>A) c.535G>A (p.Glu179Lys) c.638G>A (p.Gly213Glu) c.*1227G>A (n.*1227G>A) c.457G>A (p.Glu153Lys) c.508G>A (p.Glu170Lys) | gnomAD v4 |
16 | g.88643434C>A | CA397056786 | CYBA | c.423G>T (p.Glu141Asp) c.*724G>T (n.*724G>T) c.*761G>T (n.*761G>T) c.*430G>T (n.*430G>T) c.534G>T (p.Glu178Asp) c.637G>T (p.Gly213Ter) c.*1226G>T (n.*1226G>T) c.456G>T (p.Glu152Asp) c.507G>T (p.Glu169Asp) | |
16 | g.88643434C>G | CA397056790 | CYBA | c.423G>C (p.Glu141Asp) c.*724G>C (n.*724G>C) c.*761G>C (n.*761G>C) c.*430G>C (n.*430G>C) c.534G>C (p.Glu178Asp) c.637G>C (p.Gly213Arg) c.*1226G>C (n.*1226G>C) c.456G>C (p.Glu152Asp) c.507G>C (p.Glu169Asp) | |
16 | g.88643434C>T | CA497362117 | CYBA | c.423G>A (p.Glu141=) c.*724G>A (n.*724G>A) c.*761G>A (n.*761G>A) c.*430G>A (n.*430G>A) c.534G>A (p.Glu178=) c.637G>A (p.Gly213Arg) c.*1226G>A (n.*1226G>A) c.456G>A (p.Glu152=) c.507G>A (p.Glu169=) | gnomAD v4 |
16 | g.88643435T>A | CA397056791 | CYBA | c.422A>T (p.Glu141Val) c.*723A>T (n.*723A>T) c.*760A>T (n.*760A>T) c.*429A>T (n.*429A>T) c.533A>T (p.Glu178Val) c.636A>T (p.Arg212=) c.*1225A>T (n.*1225A>T) c.455A>T (p.Glu152Val) c.506A>T (p.Glu169Val) | |
16 | g.88643435T>C | CA397056792 | CYBA | c.422A>G (p.Glu141Gly) c.*723A>G (n.*723A>G) c.*760A>G (n.*760A>G) c.*429A>G (n.*429A>G) c.533A>G (p.Glu178Gly) c.636A>G (p.Arg212=) c.*1225A>G (n.*1225A>G) c.455A>G (p.Glu152Gly) c.506A>G (p.Glu169Gly) | |
16 | g.88643435T>G | CA397056793 | CYBA | c.422A>C (p.Glu141Ala) c.*723A>C (n.*723A>C) c.*760A>C (n.*760A>C) c.*429A>C (n.*429A>C) c.533A>C (p.Glu178Ala) c.636A>C (p.Arg212=) c.*1225A>C (n.*1225A>C) c.455A>C (p.Glu152Ala) c.506A>C (p.Glu169Ala) | |
16 | g.88643436C>A | CA397056794 | CYBA | c.421G>T (p.Glu141Ter) c.*722G>T (n.*722G>T) c.*759G>T (n.*759G>T) c.*428G>T (n.*428G>T) c.532G>T (p.Glu178Ter) c.635G>T (p.Arg212Leu) c.*1224G>T (n.*1224G>T) c.454G>T (p.Glu152Ter) c.505G>T (p.Glu169Ter) | gnomAD v4 |
16 | g.88643436C= | CA2241199647 | CYBA | c.421G= (p.Glu141=) c.*722G= (n.*722G=) c.*759G= (n.*759G=) c.*428G= (n.*428G=) c.532G= (p.Glu178=) c.635G= (p.Arg212=) c.*1224G= (n.*1224G=) c.454G= (p.Glu152=) c.505G= (p.Glu169=) | |
16 | g.88643436C>G | CA397056795 | CYBA | c.421G>C (p.Glu141Gln) c.*722G>C (n.*722G>C) c.*759G>C (n.*759G>C) c.*428G>C (n.*428G>C) c.532G>C (p.Glu178Gln) c.635G>C (p.Arg212Pro) c.*1224G>C (n.*1224G>C) c.454G>C (p.Glu152Gln) c.505G>C (p.Glu169Gln) | |
16 | g.88643436C>T | CA286348216 | CYBA | c.421G>A (p.Glu141Lys) c.*722G>A (n.*722G>A) c.*759G>A (n.*759G>A) c.*428G>A (n.*428G>A) c.532G>A (p.Glu178Lys) c.635G>A (p.Arg212Gln) c.*1224G>A (n.*1224G>A) c.454G>A (p.Glu152Lys) c.505G>A (p.Glu169Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.88643437G>A | CA497362118 | CYBA | c.420C>T (p.Ser140=) c.*721C>T (n.*721C>T) c.*758C>T (n.*758C>T) c.*427C>T (n.*427C>T) c.531C>T (p.Ser177=) c.634C>T (p.Arg212Ter) c.*1223C>T (n.*1223C>T) c.453C>T (p.Ser151=) c.504C>T (p.Ser168=) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.88643437G>C | CA397056798 | CYBA | c.420C>G (p.Ser140Arg) c.*721C>G (n.*721C>G) c.*758C>G (n.*758C>G) c.*427C>G (n.*427C>G) c.531C>G (p.Ser177Arg) c.634C>G (p.Arg212Gly) c.*1223C>G (n.*1223C>G) c.453C>G (p.Ser151Arg) c.504C>G (p.Ser168Arg) | gnomAD v4 |
16 | g.88643437G= | CA2241199648 | CYBA | c.420C= (p.Ser140=) c.*721C= (n.*721C=) c.*758C= (n.*758C=) c.*427C= (n.*427C=) c.531C= (p.Ser177=) c.634C= (p.Arg212=) c.*1223C= (n.*1223C=) c.453C= (p.Ser151=) c.504C= (p.Ser168=) | |
16 | g.88643437G>T | CA397056805 | CYBA | c.420C>A (p.Ser140Arg) c.*721C>A (n.*721C>A) c.*758C>A (n.*758C>A) c.*427C>A (n.*427C>A) c.531C>A (p.Ser177Arg) c.634C>A (p.Arg212=) c.*1223C>A (n.*1223C>A) c.453C>A (p.Ser151Arg) c.504C>A (p.Ser168Arg) | dbSNP gnomAD v4 |
16 | g.88643438C>A | CA397056818 | CYBA | c.419G>T (p.Ser140Ile) c.*720G>T (n.*720G>T) c.*757G>T (n.*757G>T) c.*426G>T (n.*426G>T) c.530G>T (p.Ser177Ile) c.633G>T (p.Gln211His) c.*1222G>T (n.*1222G>T) c.452G>T (p.Ser151Ile) c.503G>T (p.Ser168Ile) | gnomAD v4 |
16 | g.88643438C>G | CA397056814 | CYBA | c.419G>C (p.Ser140Thr) c.*720G>C (n.*720G>C) c.*757G>C (n.*757G>C) c.*426G>C (n.*426G>C) c.530G>C (p.Ser177Thr) c.633G>C (p.Gln211His) c.*1222G>C (n.*1222G>C) c.452G>C (p.Ser151Thr) c.503G>C (p.Ser168Thr) | |
16 | g.88643438C>T | CA397056811 | CYBA | c.419G>A (p.Ser140Asn) c.*720G>A (n.*720G>A) c.*757G>A (n.*757G>A) c.*426G>A (n.*426G>A) c.530G>A (p.Ser177Asn) c.633G>A (p.Gln211=) c.*1222G>A (n.*1222G>A) c.452G>A (p.Ser151Asn) c.503G>A (p.Ser168Asn) | gnomAD v4 |
16 | g.88643439T>A | CA397056825 | CYBA | c.418A>T (p.Ser140Cys) c.*719A>T (n.*719A>T) c.*756A>T (n.*756A>T) c.*425A>T (n.*425A>T) c.529A>T (p.Ser177Cys) c.632A>T (p.Gln211Leu) c.*1221A>T (n.*1221A>T) c.451A>T (p.Ser151Cys) c.502A>T (p.Ser168Cys) | |
16 | g.88643439T>C | CA397056827 | CYBA | c.418A>G (p.Ser140Gly) c.*719A>G (n.*719A>G) c.*756A>G (n.*756A>G) c.*425A>G (n.*425A>G) c.529A>G (p.Ser177Gly) c.632A>G (p.Gln211Arg) c.*1221A>G (n.*1221A>G) c.451A>G (p.Ser151Gly) c.502A>G (p.Ser168Gly) | gnomAD v4 |
16 | g.88643439T>G | CA397056831 | CYBA | c.418A>C (p.Ser140Arg) c.*719A>C (n.*719A>C) c.*756A>C (n.*756A>C) c.*425A>C (n.*425A>C) c.529A>C (p.Ser177Arg) c.632A>C (p.Gln211Pro) c.*1221A>C (n.*1221A>C) c.451A>C (p.Ser151Arg) c.502A>C (p.Ser168Arg) | |
16 | g.88643440G>A | CA286348232 | CYBA | c.417C>T (p.Pro139=) c.*718C>T (n.*718C>T) c.*755C>T (n.*755C>T) c.*424C>T (n.*424C>T) c.528C>T (p.Pro176=) c.631C>T (p.Gln211Ter) c.*1220C>T (n.*1220C>T) c.450C>T (p.Pro150=) c.501C>T (p.Pro167=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.88643440G>C | CA497362119 | CYBA | c.417C>G (p.Pro139=) c.*718C>G (n.*718C>G) c.*755C>G (n.*755C>G) c.*424C>G (n.*424C>G) c.528C>G (p.Pro176=) c.631C>G (p.Gln211Glu) c.*1220C>G (n.*1220C>G) c.450C>G (p.Pro150=) c.501C>G (p.Pro167=) | |
16 | g.88643440G= | CA2241199649 | CYBA | c.417C= (p.Pro139=) c.*718C= (n.*718C=) c.*755C= (n.*755C=) c.*424C= (n.*424C=) c.528C= (p.Pro176=) c.631C= (p.Gln211=) c.*1220C= (n.*1220C=) c.450C= (p.Pro150=) c.501C= (p.Pro167=) | |
16 | g.88643440G>T | CA497362120 | CYBA | c.417C>A (p.Pro139=) c.*718C>A (n.*718C>A) c.*755C>A (n.*755C>A) c.*424C>A (n.*424C>A) c.528C>A (p.Pro176=) c.631C>A (p.Gln211Lys) c.*1220C>A (n.*1220C>A) c.450C>A (p.Pro150=) c.501C>A (p.Pro167=) | gnomAD v4 |
16 | g.88643442del | CA2573152840 | CYBA | c.417del (p.Ser140AlafsTer23) c.*718del (n.*718del) c.*755del (n.*755del) c.*424del (n.*424del) c.528del (p.Ser177AlafsTer23) c.631del (p.Gln211SerfsTer29) c.*1220del (n.*1220del) c.450del (p.Ser151AlafsTer23) c.501del (p.Ser168AlafsTer23) | dbSNP |
16 | g.88643441G>A | CA397056833 | CYBA | c.416C>T (p.Pro139Leu) c.*717C>T (n.*717C>T) c.*754C>T (n.*754C>T) c.*423C>T (n.*423C>T) c.527C>T (p.Pro176Leu) c.630C>T (p.Ala210=) c.*1219C>T (n.*1219C>T) c.449C>T (p.Pro150Leu) c.500C>T (p.Pro167Leu) | |
16 | g.88643441G>C | CA397056837 | CYBA | c.416C>G (p.Pro139Arg) c.*717C>G (n.*717C>G) c.*754C>G (n.*754C>G) c.*423C>G (n.*423C>G) c.527C>G (p.Pro176Arg) c.630C>G (p.Ala210=) c.*1219C>G (n.*1219C>G) c.449C>G (p.Pro150Arg) c.500C>G (p.Pro167Arg) | dbSNP |
16 | g.88643441G= | CA2241199650 | CYBA | c.416C= (p.Pro139=) c.*717C= (n.*717C=) c.*754C= (n.*754C=) c.*423C= (n.*423C=) c.527C= (p.Pro176=) c.630C= (p.Ala210=) c.*1219C= (n.*1219C=) c.449C= (p.Pro150=) c.500C= (p.Pro167=) | |
16 | g.88643441G>T | CA397056839 | CYBA | c.416C>A (p.Pro139His) c.*717C>A (n.*717C>A) c.*754C>A (n.*754C>A) c.*423C>A (n.*423C>A) c.527C>A (p.Pro176His) c.630C>A (p.Ala210=) c.*1219C>A (n.*1219C>A) c.449C>A (p.Pro150His) c.500C>A (p.Pro167His) | gnomAD v4 |