Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197088331T>A | CA422672187 | ASPM | n.3373A>T c.10086A>T (p.Ala3362=) c.10308A>T (p.Ala3436=) c.10062A>T (p.Ala3354=) c.5331A>T (p.Ala1777=) c.3081A>T (p.Ala1027=) c.4044A>T (p.Ala1348=) | |
1 | g.197088331T>C | CA422672188 | ASPM | n.3373A>G c.10086A>G (p.Ala3362=) c.10308A>G (p.Ala3436=) c.10062A>G (p.Ala3354=) c.5331A>G (p.Ala1777=) c.3081A>G (p.Ala1027=) c.4044A>G (p.Ala1348=) | |
1 | g.197088331T>G | CA422672189 | ASPM | n.3373A>C c.10086A>C (p.Ala3362=) c.10308A>C (p.Ala3436=) c.10062A>C (p.Ala3354=) c.5331A>C (p.Ala1777=) c.3081A>C (p.Ala1027=) c.4044A>C (p.Ala1348=) | dbSNP gnomAD v4 |
1 | g.197088331T= | CA1217923547 | ASPM | n.3373A= c.10086A= (p.Ala3362=) c.10308A= (p.Ala3436=) c.10062A= (p.Ala3354=) c.5331A= (p.Ala1777=) c.3081A= (p.Ala1027=) c.4044A= (p.Ala1348=) | |
1 | g.197088332G>A | CA343997991 | ASPM | n.3372C>T c.10085C>T (p.Ala3362Val) c.10307C>T (p.Ala3436Val) c.10061C>T (p.Ala3354Val) c.5330C>T (p.Ala1777Val) c.3080C>T (p.Ala1027Val) c.4043C>T (p.Ala1348Val) | |
1 | g.197088332G>C | CA343997996 | ASPM | n.3372C>G c.10085C>G (p.Ala3362Gly) c.10307C>G (p.Ala3436Gly) c.10061C>G (p.Ala3354Gly) c.5330C>G (p.Ala1777Gly) c.3080C>G (p.Ala1027Gly) c.4043C>G (p.Ala1348Gly) | |
1 | g.197088332G>T | CA343997999 | ASPM | n.3372C>A c.10085C>A (p.Ala3362Glu) c.10307C>A (p.Ala3436Glu) c.10061C>A (p.Ala3354Glu) c.5330C>A (p.Ala1777Glu) c.3080C>A (p.Ala1027Glu) c.4043C>A (p.Ala1348Glu) | |
1 | g.197088332_197088344delinsGCAACTTTATTAC | CA1217923549 | ASPM | n.3360_3372delinsGTAATAAAGTTGC c.10073_10085delinsGTAATAAAGTTGC (p.Gly3358=) c.10295_10307delinsGTAATAAAGTTGC (p.Gly3432=) c.10049_10061delinsGTAATAAAGTTGC (p.Gly3350=) c.5318_5330delinsGTAATAAAGTTGC (p.Gly1773=) c.3068_3080delinsGTAATAAAGTTGC (p.Gly1023=) c.4031_4043delinsGTAATAAAGTTGC (p.Gly1344=) | |
1 | g.197088333C>A | CA343998004 | ASPM | n.3371G>T c.10084G>T (p.Ala3362Ser) c.10306G>T (p.Ala3436Ser) c.10060G>T (p.Ala3354Ser) c.5329G>T (p.Ala1777Ser) c.3079G>T (p.Ala1027Ser) c.4042G>T (p.Ala1348Ser) | |
1 | g.197088333C>G | CA343998008 | ASPM | n.3371G>C c.10084G>C (p.Ala3362Pro) c.10306G>C (p.Ala3436Pro) c.10060G>C (p.Ala3354Pro) c.5329G>C (p.Ala1777Pro) c.3079G>C (p.Ala1027Pro) c.4042G>C (p.Ala1348Pro) | |
1 | g.197088333C>T | CA343998005 | ASPM | n.3371G>A c.10084G>A (p.Ala3362Thr) c.10306G>A (p.Ala3436Thr) c.10060G>A (p.Ala3354Thr) c.5329G>A (p.Ala1777Thr) c.3079G>A (p.Ala1027Thr) c.4042G>A (p.Ala1348Thr) | gnomAD v4 |
1 | g.197088335_197088346del | CA528535061 | ASPM | n.3360_3371del c.10073_10084del (p.Gly3358_Val3361del) c.10295_10306del (p.Gly3432_Val3435del) c.10049_10060del (p.Gly3350_Val3353del) c.5318_5329del (p.Gly1773_Val1776del) c.3068_3079del (p.Gly1023_Val1026del) c.4031_4042del (p.Gly1344_Val1347del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088334A= | CA1217923551 | ASPM | n.3370T= c.10083T= (p.Val3361=) c.10305T= (p.Val3435=) c.10059T= (p.Val3353=) c.5328T= (p.Val1776=) c.3078T= (p.Val1026=) c.4041T= (p.Val1347=) | |
1 | g.197088334A>C | CA422672190 | ASPM | n.3370T>G c.10083T>G (p.Val3361=) c.10305T>G (p.Val3435=) c.10059T>G (p.Val3353=) c.5328T>G (p.Val1776=) c.3078T>G (p.Val1026=) c.4041T>G (p.Val1347=) | |
1 | g.197088334A>G | CA1308798 | ASPM | n.3370T>C c.10083T>C (p.Val3361=) c.10305T>C (p.Val3435=) c.10059T>C (p.Val3353=) c.5328T>C (p.Val1776=) c.3078T>C (p.Val1026=) c.4041T>C (p.Val1347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088334A>T | CA422672191 | ASPM | n.3370T>A c.10083T>A (p.Val3361=) c.10305T>A (p.Val3435=) c.10059T>A (p.Val3353=) c.5328T>A (p.Val1776=) c.3078T>A (p.Val1026=) c.4041T>A (p.Val1347=) | |
1 | g.197088335A>C | CA343998016 | ASPM | n.3369T>G c.10082T>G (p.Val3361Gly) c.10304T>G (p.Val3435Gly) c.10058T>G (p.Val3353Gly) c.5327T>G (p.Val1776Gly) c.3077T>G (p.Val1026Gly) c.4040T>G (p.Val1347Gly) | |
1 | g.197088335A>G | CA343998022 | ASPM | n.3369T>C c.10082T>C (p.Val3361Ala) c.10304T>C (p.Val3435Ala) c.10058T>C (p.Val3353Ala) c.5327T>C (p.Val1776Ala) c.3077T>C (p.Val1026Ala) c.4040T>C (p.Val1347Ala) | |
1 | g.197088335A>T | CA343998032 | ASPM | n.3369T>A c.10082T>A (p.Val3361Asp) c.10304T>A (p.Val3435Asp) c.10058T>A (p.Val3353Asp) c.5327T>A (p.Val1776Asp) c.3077T>A (p.Val1026Asp) c.4040T>A (p.Val1347Asp) | |
1 | g.197088336C>A | CA343998036 | ASPM | n.3368G>T c.10081G>T (p.Val3361Phe) c.10303G>T (p.Val3435Phe) c.10057G>T (p.Val3353Phe) c.5326G>T (p.Val1776Phe) c.3076G>T (p.Val1026Phe) c.4039G>T (p.Val1347Phe) | |
1 | g.197088336C>G | CA343998039 | ASPM | n.3368G>C c.10081G>C (p.Val3361Leu) c.10303G>C (p.Val3435Leu) c.10057G>C (p.Val3353Leu) c.5326G>C (p.Val1776Leu) c.3076G>C (p.Val1026Leu) c.4039G>C (p.Val1347Leu) | |
1 | g.197088336C>T | CA343998047 | ASPM | n.3368G>A c.10081G>A (p.Val3361Ile) c.10303G>A (p.Val3435Ile) c.10057G>A (p.Val3353Ile) c.5326G>A (p.Val1776Ile) c.3076G>A (p.Val1026Ile) c.4039G>A (p.Val1347Ile) | |
1 | g.197088337T>A | CA343998057 | ASPM | n.3367A>T c.10080A>T (p.Lys3360Asn) c.10302A>T (p.Lys3434Asn) c.10056A>T (p.Lys3352Asn) c.5325A>T (p.Lys1775Asn) c.3075A>T (p.Lys1025Asn) c.4038A>T (p.Lys1346Asn) | |
1 | g.197088337T>C | CA422672192 | ASPM | n.3367A>G c.10080A>G (p.Lys3360=) c.10302A>G (p.Lys3434=) c.10056A>G (p.Lys3352=) c.5325A>G (p.Lys1775=) c.3075A>G (p.Lys1025=) c.4038A>G (p.Lys1346=) | |
1 | g.197088337T>G | CA343998059 | ASPM | n.3367A>C c.10080A>C (p.Lys3360Asn) c.10302A>C (p.Lys3434Asn) c.10056A>C (p.Lys3352Asn) c.5325A>C (p.Lys1775Asn) c.3075A>C (p.Lys1025Asn) c.4038A>C (p.Lys1346Asn) | |
1 | g.197088339del | CA2573629508 | ASPM | n.3367del c.10080del (p.Val3361LeufsTer20) c.10302del (p.Val3435LeufsTer20) c.10056del (p.Val3353LeufsTer20) c.5325del (p.Val1776LeufsTer20) c.3075del (p.Val1026LeufsTer20) c.4038del (p.Val1347LeufsTer20) | |
1 | g.197088338T>A | CA343998063 | ASPM | n.3366A>T c.10079A>T (p.Lys3360Ile) c.10301A>T (p.Lys3434Ile) c.10055A>T (p.Lys3352Ile) c.5324A>T (p.Lys1775Ile) c.3074A>T (p.Lys1025Ile) c.4037A>T (p.Lys1346Ile) | gnomAD v4 COSMIC |
1 | g.197088338T>C | CA343998066 | ASPM | n.3366A>G c.10079A>G (p.Lys3360Arg) c.10301A>G (p.Lys3434Arg) c.10055A>G (p.Lys3352Arg) c.5324A>G (p.Lys1775Arg) c.3074A>G (p.Lys1025Arg) c.4037A>G (p.Lys1346Arg) | |
1 | g.197088338T>G | CA343998071 | ASPM | n.3366A>C c.10079A>C (p.Lys3360Thr) c.10301A>C (p.Lys3434Thr) c.10055A>C (p.Lys3352Thr) c.5324A>C (p.Lys1775Thr) c.3074A>C (p.Lys1025Thr) c.4037A>C (p.Lys1346Thr) | |
1 | g.197088339T>A | CA343998074 | ASPM | n.3365A>T c.10078A>T (p.Lys3360Ter) c.10300A>T (p.Lys3434Ter) c.10054A>T (p.Lys3352Ter) c.5323A>T (p.Lys1775Ter) c.3073A>T (p.Lys1025Ter) c.4036A>T (p.Lys1346Ter) | gnomAD v4 |
1 | g.197088339T>C | CA343998080 | ASPM | n.3365A>G c.10078A>G (p.Lys3360Glu) c.10300A>G (p.Lys3434Glu) c.10054A>G (p.Lys3352Glu) c.5323A>G (p.Lys1775Glu) c.3073A>G (p.Lys1025Glu) c.4036A>G (p.Lys1346Glu) | |
1 | g.197088339T>G | CA343998077 | ASPM | n.3365A>C c.10078A>C (p.Lys3360Gln) c.10300A>C (p.Lys3434Gln) c.10054A>C (p.Lys3352Gln) c.5323A>C (p.Lys1775Gln) c.3073A>C (p.Lys1025Gln) c.4036A>C (p.Lys1346Gln) | |
1 | g.197088340A>C | CA343998085 | ASPM | n.3364T>G c.10077T>G (p.Asn3359Lys) c.10299T>G (p.Asn3433Lys) c.10053T>G (p.Asn3351Lys) c.5322T>G (p.Asn1774Lys) c.3072T>G (p.Asn1024Lys) c.4035T>G (p.Asn1345Lys) | |
1 | g.197088340A>G | CA422672193 | ASPM | n.3364T>C c.10077T>C (p.Asn3359=) c.10299T>C (p.Asn3433=) c.10053T>C (p.Asn3351=) c.5322T>C (p.Asn1774=) c.3072T>C (p.Asn1024=) c.4035T>C (p.Asn1345=) | |
1 | g.197088340A>T | CA343998088 | ASPM | n.3364T>A c.10077T>A (p.Asn3359Lys) c.10299T>A (p.Asn3433Lys) c.10053T>A (p.Asn3351Lys) c.5322T>A (p.Asn1774Lys) c.3072T>A (p.Asn1024Lys) c.4035T>A (p.Asn1345Lys) | |
1 | g.197088341T>A | CA343998095 | ASPM | n.3363A>T c.10076A>T (p.Asn3359Ile) c.10298A>T (p.Asn3433Ile) c.10052A>T (p.Asn3351Ile) c.5321A>T (p.Asn1774Ile) c.3071A>T (p.Asn1024Ile) c.4034A>T (p.Asn1345Ile) | |
1 | g.197088341T>C | CA343998103 | ASPM | n.3363A>G c.10076A>G (p.Asn3359Ser) c.10298A>G (p.Asn3433Ser) c.10052A>G (p.Asn3351Ser) c.5321A>G (p.Asn1774Ser) c.3071A>G (p.Asn1024Ser) c.4034A>G (p.Asn1345Ser) | |
1 | g.197088341T>G | CA343998099 | ASPM | n.3363A>C c.10076A>C (p.Asn3359Thr) c.10298A>C (p.Asn3433Thr) c.10052A>C (p.Asn3351Thr) c.5321A>C (p.Asn1774Thr) c.3071A>C (p.Asn1024Thr) c.4034A>C (p.Asn1345Thr) | |
1 | g.197088342T>A | CA343998110 | ASPM | n.3362A>T c.10075A>T (p.Asn3359Tyr) c.10297A>T (p.Asn3433Tyr) c.10051A>T (p.Asn3351Tyr) c.5320A>T (p.Asn1774Tyr) c.3070A>T (p.Asn1024Tyr) c.4033A>T (p.Asn1345Tyr) | |
1 | g.197088342T>C | CA343998122 | ASPM | n.3362A>G c.10075A>G (p.Asn3359Asp) c.10297A>G (p.Asn3433Asp) c.10051A>G (p.Asn3351Asp) c.5320A>G (p.Asn1774Asp) c.3070A>G (p.Asn1024Asp) c.4033A>G (p.Asn1345Asp) | COSMIC |
1 | g.197088342T>G | CA343998116 | ASPM | n.3362A>C c.10075A>C (p.Asn3359His) c.10297A>C (p.Asn3433His) c.10051A>C (p.Asn3351His) c.5320A>C (p.Asn1774His) c.3070A>C (p.Asn1024His) c.4033A>C (p.Asn1345His) | |
1 | g.197088343A>C | CA422672194 | ASPM | n.3361T>G c.10074T>G (p.Gly3358=) c.10296T>G (p.Gly3432=) c.10050T>G (p.Gly3350=) c.5319T>G (p.Gly1773=) c.3069T>G (p.Gly1023=) c.4032T>G (p.Gly1344=) | |
1 | g.197088343A>G | CA422672195 | ASPM | n.3361T>C c.10074T>C (p.Gly3358=) c.10296T>C (p.Gly3432=) c.10050T>C (p.Gly3350=) c.5319T>C (p.Gly1773=) c.3069T>C (p.Gly1023=) c.4032T>C (p.Gly1344=) | gnomAD v4 |
1 | g.197088343A>T | CA422672196 | ASPM | n.3361T>A c.10074T>A (p.Gly3358=) c.10296T>A (p.Gly3432=) c.10050T>A (p.Gly3350=) c.5319T>A (p.Gly1773=) c.3069T>A (p.Gly1023=) c.4032T>A (p.Gly1344=) | |
1 | g.197088344C>A | CA343998128 | ASPM | n.3360G>T c.10073G>T (p.Gly3358Val) c.10295G>T (p.Gly3432Val) c.10049G>T (p.Gly3350Val) c.5318G>T (p.Gly1773Val) c.3068G>T (p.Gly1023Val) c.4031G>T (p.Gly1344Val) | |
1 | g.197088344C>G | CA343998130 | ASPM | n.3360G>C c.10073G>C (p.Gly3358Ala) c.10295G>C (p.Gly3432Ala) c.10049G>C (p.Gly3350Ala) c.5318G>C (p.Gly1773Ala) c.3068G>C (p.Gly1023Ala) c.4031G>C (p.Gly1344Ala) | |
1 | g.197088344C>T | CA343998133 | ASPM | n.3360G>A c.10073G>A (p.Gly3358Asp) c.10295G>A (p.Gly3432Asp) c.10049G>A (p.Gly3350Asp) c.5318G>A (p.Gly1773Asp) c.3068G>A (p.Gly1023Asp) c.4031G>A (p.Gly1344Asp) | gnomAD v4 |
1 | g.197088345C>A | CA343998137 | ASPM | n.3359G>T c.10072G>T (p.Gly3358Cys) c.10294G>T (p.Gly3432Cys) c.10048G>T (p.Gly3350Cys) c.5317G>T (p.Gly1773Cys) c.3067G>T (p.Gly1023Cys) c.4030G>T (p.Gly1344Cys) | |
1 | g.197088345C>G | CA343998147 | ASPM | n.3359G>C c.10072G>C (p.Gly3358Arg) c.10294G>C (p.Gly3432Arg) c.10048G>C (p.Gly3350Arg) c.5317G>C (p.Gly1773Arg) c.3067G>C (p.Gly1023Arg) c.4030G>C (p.Gly1344Arg) | |
1 | g.197088345C>T | CA343998151 | ASPM | n.3359G>A c.10072G>A (p.Gly3358Ser) c.10294G>A (p.Gly3432Ser) c.10048G>A (p.Gly3350Ser) c.5317G>A (p.Gly1773Ser) c.3067G>A (p.Gly1023Ser) c.4030G>A (p.Gly1344Ser) | |
1 | g.197088346A>C | CA422672199 | ASPM | n.3358T>G c.10071T>G (p.Pro3357=) c.10293T>G (p.Pro3431=) c.10047T>G (p.Pro3349=) c.5316T>G (p.Pro1772=) c.3066T>G (p.Pro1022=) c.4029T>G (p.Pro1343=) | |
1 | g.197088346A>G | CA422672198 | ASPM | n.3358T>C c.10071T>C (p.Pro3357=) c.10293T>C (p.Pro3431=) c.10047T>C (p.Pro3349=) c.5316T>C (p.Pro1772=) c.3066T>C (p.Pro1022=) c.4029T>C (p.Pro1343=) | |
1 | g.197088346A>T | CA422672197 | ASPM | n.3358T>A c.10071T>A (p.Pro3357=) c.10293T>A (p.Pro3431=) c.10047T>A (p.Pro3349=) c.5316T>A (p.Pro1772=) c.3066T>A (p.Pro1022=) c.4029T>A (p.Pro1343=) | |
1 | g.197088347G>A | CA343998153 | ASPM | n.3357C>T c.10070C>T (p.Pro3357Leu) c.10292C>T (p.Pro3431Leu) c.10046C>T (p.Pro3349Leu) c.5315C>T (p.Pro1772Leu) c.3065C>T (p.Pro1022Leu) c.4028C>T (p.Pro1343Leu) | |
1 | g.197088347G>C | CA343998156 | ASPM | n.3357C>G c.10070C>G (p.Pro3357Arg) c.10292C>G (p.Pro3431Arg) c.10046C>G (p.Pro3349Arg) c.5315C>G (p.Pro1772Arg) c.3065C>G (p.Pro1022Arg) c.4028C>G (p.Pro1343Arg) | |
1 | g.197088347G>T | CA343998160 | ASPM | n.3357C>A c.10070C>A (p.Pro3357His) c.10292C>A (p.Pro3431His) c.10046C>A (p.Pro3349His) c.5315C>A (p.Pro1772His) c.3065C>A (p.Pro1022His) c.4028C>A (p.Pro1343His) | |
1 | g.197088348G>A | CA343998164 | ASPM | n.3356C>T c.10069C>T (p.Pro3357Ser) c.10291C>T (p.Pro3431Ser) c.10045C>T (p.Pro3349Ser) c.5314C>T (p.Pro1772Ser) c.3064C>T (p.Pro1022Ser) c.4027C>T (p.Pro1343Ser) | dbSNP |
1 | g.197088348G>C | CA343998167 | ASPM | n.3356C>G c.10069C>G (p.Pro3357Ala) c.10291C>G (p.Pro3431Ala) c.10045C>G (p.Pro3349Ala) c.5314C>G (p.Pro1772Ala) c.3064C>G (p.Pro1022Ala) c.4027C>G (p.Pro1343Ala) | |
1 | g.197088348G= | CA1217923552 | ASPM | n.3356C= c.10069C= (p.Pro3357=) c.10291C= (p.Pro3431=) c.10045C= (p.Pro3349=) c.5314C= (p.Pro1772=) c.3064C= (p.Pro1022=) c.4027C= (p.Pro1343=) | |
1 | g.197088348G>T | CA343998175 | ASPM | n.3356C>A c.10069C>A (p.Pro3357Thr) c.10291C>A (p.Pro3431Thr) c.10045C>A (p.Pro3349Thr) c.5314C>A (p.Pro1772Thr) c.3064C>A (p.Pro1022Thr) c.4027C>A (p.Pro1343Thr) | gnomAD v4 |
1 | g.197088349C>A | CA343998181 | ASPM | n.3355G>T c.10068G>T (p.Lys3356Asn) c.10290G>T (p.Lys3430Asn) c.10044G>T (p.Lys3348Asn) c.5313G>T (p.Lys1771Asn) c.3063G>T (p.Lys1021Asn) c.4026G>T (p.Lys1342Asn) | |
1 | g.197088349C>G | CA343998178 | ASPM | n.3355G>C c.10068G>C (p.Lys3356Asn) c.10290G>C (p.Lys3430Asn) c.10044G>C (p.Lys3348Asn) c.5313G>C (p.Lys1771Asn) c.3063G>C (p.Lys1021Asn) c.4026G>C (p.Lys1342Asn) | |
1 | g.197088349C>T | CA422672200 | ASPM | n.3355G>A c.10068G>A (p.Lys3356=) c.10290G>A (p.Lys3430=) c.10044G>A (p.Lys3348=) c.5313G>A (p.Lys1771=) c.3063G>A (p.Lys1021=) c.4026G>A (p.Lys1342=) | |
1 | g.197088350T>A | CA343998185 | ASPM | n.3354A>T c.10067A>T (p.Lys3356Met) c.10289A>T (p.Lys3430Met) c.10043A>T (p.Lys3348Met) c.5312A>T (p.Lys1771Met) c.3062A>T (p.Lys1021Met) c.4025A>T (p.Lys1342Met) | |
1 | g.197088350T>C | CA343998186 | ASPM | n.3354A>G c.10067A>G (p.Lys3356Arg) c.10289A>G (p.Lys3430Arg) c.10043A>G (p.Lys3348Arg) c.5312A>G (p.Lys1771Arg) c.3062A>G (p.Lys1021Arg) c.4025A>G (p.Lys1342Arg) | |
1 | g.197088350T>G | CA343998187 | ASPM | n.3354A>C c.10067A>C (p.Lys3356Thr) c.10289A>C (p.Lys3430Thr) c.10043A>C (p.Lys3348Thr) c.5312A>C (p.Lys1771Thr) c.3062A>C (p.Lys1021Thr) c.4025A>C (p.Lys1342Thr) | |
1 | g.197088351T>A | CA343998190 | ASPM | n.3353A>T c.10066A>T (p.Lys3356Ter) c.10288A>T (p.Lys3430Ter) c.10042A>T (p.Lys3348Ter) c.5311A>T (p.Lys1771Ter) c.3061A>T (p.Lys1021Ter) c.4024A>T (p.Lys1342Ter) | |
1 | g.197088351T>C | CA343998192 | ASPM | n.3353A>G c.10066A>G (p.Lys3356Glu) c.10288A>G (p.Lys3430Glu) c.10042A>G (p.Lys3348Glu) c.5311A>G (p.Lys1771Glu) c.3061A>G (p.Lys1021Glu) c.4024A>G (p.Lys1342Glu) | |
1 | g.197088351T>G | CA343998202 | ASPM | n.3353A>C c.10066A>C (p.Lys3356Gln) c.10288A>C (p.Lys3430Gln) c.10042A>C (p.Lys3348Gln) c.5311A>C (p.Lys1771Gln) c.3061A>C (p.Lys1021Gln) c.4024A>C (p.Lys1342Gln) | |
1 | g.197088352T>A | CA343998210 | ASPM | n.3352A>T c.10065A>T (p.Glu3355Asp) c.10287A>T (p.Glu3429Asp) c.10041A>T (p.Glu3347Asp) c.5310A>T (p.Glu1770Asp) c.3060A>T (p.Glu1020Asp) c.4023A>T (p.Glu1341Asp) | |
1 | g.197088352T>C | CA422672201 | ASPM | n.3352A>G c.10065A>G (p.Glu3355=) c.10287A>G (p.Glu3429=) c.10041A>G (p.Glu3347=) c.5310A>G (p.Glu1770=) c.3060A>G (p.Glu1020=) c.4023A>G (p.Glu1341=) | |
1 | g.197088352T>G | CA343998213 | ASPM | n.3352A>C c.10065A>C (p.Glu3355Asp) c.10287A>C (p.Glu3429Asp) c.10041A>C (p.Glu3347Asp) c.5310A>C (p.Glu1770Asp) c.3060A>C (p.Glu1020Asp) c.4023A>C (p.Glu1341Asp) | |
1 | g.197088353T>A | CA343998217 | ASPM | n.3351A>T c.10064A>T (p.Glu3355Val) c.10286A>T (p.Glu3429Val) c.10040A>T (p.Glu3347Val) c.5309A>T (p.Glu1770Val) c.3059A>T (p.Glu1020Val) c.4022A>T (p.Glu1341Val) | |
1 | g.197088353T>C | CA343998233 | ASPM | n.3351A>G c.10064A>G (p.Glu3355Gly) c.10286A>G (p.Glu3429Gly) c.10040A>G (p.Glu3347Gly) c.5309A>G (p.Glu1770Gly) c.3059A>G (p.Glu1020Gly) c.4022A>G (p.Glu1341Gly) | |
1 | g.197088353T>G | CA343998235 | ASPM | n.3351A>C c.10064A>C (p.Glu3355Ala) c.10286A>C (p.Glu3429Ala) c.10040A>C (p.Glu3347Ala) c.5309A>C (p.Glu1770Ala) c.3059A>C (p.Glu1020Ala) c.4022A>C (p.Glu1341Ala) | |
1 | g.197088354C>A | CA343998250 | ASPM | n.3350G>T c.10063G>T (p.Glu3355Ter) c.10285G>T (p.Glu3429Ter) c.10039G>T (p.Glu3347Ter) c.5308G>T (p.Glu1770Ter) c.3058G>T (p.Glu1020Ter) c.4021G>T (p.Glu1341Ter) | gnomAD v4 |
1 | g.197088354C>G | CA343998242 | ASPM | n.3350G>C c.10063G>C (p.Glu3355Gln) c.10285G>C (p.Glu3429Gln) c.10039G>C (p.Glu3347Gln) c.5308G>C (p.Glu1770Gln) c.3058G>C (p.Glu1020Gln) c.4021G>C (p.Glu1341Gln) | dbSNP |
1 | g.197088354C>T | CA343998240 | ASPM | n.3350G>A c.10063G>A (p.Glu3355Lys) c.10285G>A (p.Glu3429Lys) c.10039G>A (p.Glu3347Lys) c.5308G>A (p.Glu1770Lys) c.3058G>A (p.Glu1020Lys) c.4021G>A (p.Glu1341Lys) | |
1 | g.197088355T>A | CA422672202 | ASPM | n.3349A>T c.10062A>T (p.Arg3354=) c.10284A>T (p.Arg3428=) c.10038A>T (p.Arg3346=) c.5307A>T (p.Arg1769=) c.3057A>T (p.Arg1019=) c.4020A>T (p.Arg1340=) | |
1 | g.197088355T>C | CA422672203 | ASPM | n.3349A>G c.10062A>G (p.Arg3354=) c.10284A>G (p.Arg3428=) c.10038A>G (p.Arg3346=) c.5307A>G (p.Arg1769=) c.3057A>G (p.Arg1019=) c.4020A>G (p.Arg1340=) | |
1 | g.197088355T>G | CA422672204 | ASPM | n.3349A>C c.10062A>C (p.Arg3354=) c.10284A>C (p.Arg3428=) c.10038A>C (p.Arg3346=) c.5307A>C (p.Arg1769=) c.3057A>C (p.Arg1019=) c.4020A>C (p.Arg1340=) | dbSNP |
1 | g.197088355T= | CA1217923553 | ASPM | n.3349A= c.10062A= (p.Arg3354=) c.10284A= (p.Arg3428=) c.10038A= (p.Arg3346=) c.5307A= (p.Arg1769=) c.3057A= (p.Arg1019=) c.4020A= (p.Arg1340=) | |
1 | g.197088356C>A | CA343998253 | ASPM | n.3348G>T c.10061G>T (p.Arg3354Leu) c.10283G>T (p.Arg3428Leu) c.10037G>T (p.Arg3346Leu) c.5306G>T (p.Arg1769Leu) c.3056G>T (p.Arg1019Leu) c.4019G>T (p.Arg1340Leu) | |
1 | g.197088356C= | CA1145048603 | ASPM | n.3348G= c.10061G= (p.Arg3354=) c.10283G= (p.Arg3428=) c.10037G= (p.Arg3346=) c.5306G= (p.Arg1769=) c.3056G= (p.Arg1019=) c.4019G= (p.Arg1340=) | |
1 | g.197088356C>G | CA343998258 | ASPM | n.3348G>C c.10061G>C (p.Arg3354Pro) c.10283G>C (p.Arg3428Pro) c.10037G>C (p.Arg3346Pro) c.5306G>C (p.Arg1769Pro) c.3056G>C (p.Arg1019Pro) c.4019G>C (p.Arg1340Pro) | |
1 | g.197088356C>T | CA1308799 | ASPM | n.3348G>A c.10061G>A (p.Arg3354Gln) c.10283G>A (p.Arg3428Gln) c.10037G>A (p.Arg3346Gln) c.5306G>A (p.Arg1769Gln) c.3056G>A (p.Arg1019Gln) c.4019G>A (p.Arg1340Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088357G>A | CA277313 | ASPM | n.3347C>T c.10060C>T (p.Arg3354Ter) c.10282C>T (p.Arg3428Ter) c.10036C>T (p.Arg3346Ter) c.5305C>T (p.Arg1769Ter) c.3055C>T (p.Arg1019Ter) c.4018C>T (p.Arg1340Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088357G>C | CA343998266 | ASPM | n.3347C>G c.10060C>G (p.Arg3354Gly) c.10282C>G (p.Arg3428Gly) c.10036C>G (p.Arg3346Gly) c.5305C>G (p.Arg1769Gly) c.3055C>G (p.Arg1019Gly) c.4018C>G (p.Arg1340Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088357G= | CA1148890069 | ASPM | n.3347C= c.10060C= (p.Arg3354=) c.10282C= (p.Arg3428=) c.10036C= (p.Arg3346=) c.5305C= (p.Arg1769=) c.3055C= (p.Arg1019=) c.4018C= (p.Arg1340=) | |
1 | g.197088357G>T | CA422672205 | ASPM | n.3347C>A c.10060C>A (p.Arg3354=) c.10282C>A (p.Arg3428=) c.10036C>A (p.Arg3346=) c.5305C>A (p.Arg1769=) c.3055C>A (p.Arg1019=) c.4018C>A (p.Arg1340=) | |
1 | g.197088358G>A | CA422672206 | ASPM | n.3346C>T c.10059C>T (p.Tyr3353=) c.10281C>T (p.Tyr3427=) c.10035C>T (p.Tyr3345=) c.5304C>T (p.Tyr1768=) c.3054C>T (p.Tyr1018=) c.4017C>T (p.Tyr1339=) | |
1 | g.197088358G>C | CA343998269 | ASPM | n.3346C>G c.10059C>G (p.Tyr3353Ter) c.10281C>G (p.Tyr3427Ter) c.10035C>G (p.Tyr3345Ter) c.5304C>G (p.Tyr1768Ter) c.3054C>G (p.Tyr1018Ter) c.4017C>G (p.Tyr1339Ter) | |
1 | g.197088358G= | CA1143355779 | ASPM | n.3346C= c.10059C= (p.Tyr3353=) c.10281C= (p.Tyr3427=) c.10035C= (p.Tyr3345=) c.5304C= (p.Tyr1768=) c.3054C= (p.Tyr1018=) c.4017C= (p.Tyr1339=) | |
1 | g.197088358G>T | CA342211 | ASPM | n.3346C>A c.10059C>A (p.Tyr3353Ter) c.10281C>A (p.Tyr3427Ter) c.10035C>A (p.Tyr3345Ter) c.5304C>A (p.Tyr1768Ter) c.3054C>A (p.Tyr1018Ter) c.4017C>A (p.Tyr1339Ter) | ClinVar dbSNP |
1 | g.197088359T>A | CA343998277 | ASPM | n.3345A>T c.10058A>T (p.Tyr3353Phe) c.10280A>T (p.Tyr3427Phe) c.10034A>T (p.Tyr3345Phe) c.5303A>T (p.Tyr1768Phe) c.3053A>T (p.Tyr1018Phe) c.4016A>T (p.Tyr1339Phe) | |
1 | g.197088359T>C | CA343998285 | ASPM | n.3345A>G c.10058A>G (p.Tyr3353Cys) c.10280A>G (p.Tyr3427Cys) c.10034A>G (p.Tyr3345Cys) c.5303A>G (p.Tyr1768Cys) c.3053A>G (p.Tyr1018Cys) c.4016A>G (p.Tyr1339Cys) | |
1 | g.197088359T>G | CA343998282 | ASPM | n.3345A>C c.10058A>C (p.Tyr3353Ser) c.10280A>C (p.Tyr3427Ser) c.10034A>C (p.Tyr3345Ser) c.5303A>C (p.Tyr1768Ser) c.3053A>C (p.Tyr1018Ser) c.4016A>C (p.Tyr1339Ser) | |
1 | g.197088362_197088363del | CA2649660432 | ASPM | n.3344_3345del c.10057_10058del (p.Tyr3353ProfsTer6) c.10279_10280del (p.Tyr3427ProfsTer6) c.10033_10034del (p.Tyr3345ProfsTer6) c.5302_5303del (p.Tyr1768ProfsTer6) c.3052_3053del (p.Tyr1018ProfsTer6) c.4015_4016del (p.Tyr1339ProfsTer6) | gnomAD v4 |
1 | g.197088360A= | CA1141792598 | ASPM | n.3344T= c.10057T= (p.Tyr3353=) c.10279T= (p.Tyr3427=) c.10033T= (p.Tyr3345=) c.5302T= (p.Tyr1768=) c.3052T= (p.Tyr1018=) c.4015T= (p.Tyr1339=) | |
1 | g.197088360A>C | CA343998288 | ASPM | n.3344T>G c.10057T>G (p.Tyr3353Asp) c.10279T>G (p.Tyr3427Asp) c.10033T>G (p.Tyr3345Asp) c.5302T>G (p.Tyr1768Asp) c.3052T>G (p.Tyr1018Asp) c.4015T>G (p.Tyr1339Asp) | |
1 | g.197088360A>G | CA1308800 | ASPM | n.3344T>C c.10057T>C (p.Tyr3353His) c.10279T>C (p.Tyr3427His) c.10033T>C (p.Tyr3345His) c.5302T>C (p.Tyr1768His) c.3052T>C (p.Tyr1018His) c.4015T>C (p.Tyr1339His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088360A>T | CA343998293 | ASPM | n.3344T>A c.10057T>A (p.Tyr3353Asn) c.10279T>A (p.Tyr3427Asn) c.10033T>A (p.Tyr3345Asn) c.5302T>A (p.Tyr1768Asn) c.3052T>A (p.Tyr1018Asn) c.4015T>A (p.Tyr1339Asn) | |
1 | g.197088361T>A | CA422672208 | ASPM | n.3343A>T c.10056A>T (p.Ile3352=) c.10278A>T (p.Ile3426=) c.10032A>T (p.Ile3344=) c.5301A>T (p.Ile1767=) c.3051A>T (p.Ile1017=) c.4014A>T (p.Ile1338=) | |
1 | g.197088361T>C | CA1308801 | ASPM | n.3343A>G c.10056A>G (p.Ile3352Met) c.10278A>G (p.Ile3426Met) c.10032A>G (p.Ile3344Met) c.5301A>G (p.Ile1767Met) c.3051A>G (p.Ile1017Met) c.4014A>G (p.Ile1338Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088361T>G | CA422672207 | ASPM | n.3343A>C c.10056A>C (p.Ile3352=) c.10278A>C (p.Ile3426=) c.10032A>C (p.Ile3344=) c.5301A>C (p.Ile1767=) c.3051A>C (p.Ile1017=) c.4014A>C (p.Ile1338=) | |
1 | g.197088361T= | CA1217923561 | ASPM | n.3343A= c.10056A= (p.Ile3352=) c.10278A= (p.Ile3426=) c.10032A= (p.Ile3344=) c.5301A= (p.Ile1767=) c.3051A= (p.Ile1017=) c.4014A= (p.Ile1338=) | |
1 | g.197088361_197088362insCC | CA1308802 | ASPM | n.3342_3343insGG c.10055_10056insGG (p.Ile3352MetfsTer30) c.10277_10278insGG (p.Ile3426MetfsTer30) c.10031_10032insGG (p.Ile3344MetfsTer30) c.5300_5301insGG (p.Ile1767MetfsTer30) c.3050_3051insGG (p.Ile1017MetfsTer30) c.4013_4014insGG (p.Ile1338MetfsTer30) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088362A>C | CA343998313 | ASPM | n.3342T>G c.10055T>G (p.Ile3352Arg) c.10277T>G (p.Ile3426Arg) c.10031T>G (p.Ile3344Arg) c.5300T>G (p.Ile1767Arg) c.3050T>G (p.Ile1017Arg) c.4013T>G (p.Ile1338Arg) | |
1 | g.197088362A>G | CA343998310 | ASPM | n.3342T>C c.10055T>C (p.Ile3352Thr) c.10277T>C (p.Ile3426Thr) c.10031T>C (p.Ile3344Thr) c.5300T>C (p.Ile1767Thr) c.3050T>C (p.Ile1017Thr) c.4013T>C (p.Ile1338Thr) | |
1 | g.197088362A>T | CA343998303 | ASPM | n.3342T>A c.10055T>A (p.Ile3352Lys) c.10277T>A (p.Ile3426Lys) c.10031T>A (p.Ile3344Lys) c.5300T>A (p.Ile1767Lys) c.3050T>A (p.Ile1017Lys) c.4013T>A (p.Ile1338Lys) | |
1 | g.197088363T>A | CA343998318 | ASPM | n.3341A>T c.10054A>T (p.Ile3352Leu) c.10276A>T (p.Ile3426Leu) c.10030A>T (p.Ile3344Leu) c.5299A>T (p.Ile1767Leu) c.3049A>T (p.Ile1017Leu) c.4012A>T (p.Ile1338Leu) | |
1 | g.197088363T>C | CA343998320 | ASPM | n.3341A>G c.10054A>G (p.Ile3352Val) c.10276A>G (p.Ile3426Val) c.10030A>G (p.Ile3344Val) c.5299A>G (p.Ile1767Val) c.3049A>G (p.Ile1017Val) c.4012A>G (p.Ile1338Val) | gnomAD v4 |
1 | g.197088363T>G | CA343998323 | ASPM | n.3341A>C c.10054A>C (p.Ile3352Leu) c.10276A>C (p.Ile3426Leu) c.10030A>C (p.Ile3344Leu) c.5299A>C (p.Ile1767Leu) c.3049A>C (p.Ile1017Leu) c.4012A>C (p.Ile1338Leu) | |
1 | g.197088364C>A | CA343998328 | ASPM | n.3340G>T c.10053G>T (p.Gln3351His) c.10275G>T (p.Gln3425His) c.10029G>T (p.Gln3343His) c.5298G>T (p.Gln1766His) c.3048G>T (p.Gln1016His) c.4011G>T (p.Gln1337His) | |
1 | g.197088364C= | CA1148465974 | ASPM | n.3340G= c.10053G= (p.Gln3351=) c.10275G= (p.Gln3425=) c.10029G= (p.Gln3343=) c.5298G= (p.Gln1766=) c.3048G= (p.Gln1016=) c.4011G= (p.Gln1337=) | |
1 | g.197088364C>G | CA343998332 | ASPM | n.3340G>C c.10053G>C (p.Gln3351His) c.10275G>C (p.Gln3425His) c.10029G>C (p.Gln3343His) c.5298G>C (p.Gln1766His) c.3048G>C (p.Gln1016His) c.4011G>C (p.Gln1337His) | COSMIC |
1 | g.197088364C>T | CA1308803 | ASPM | n.3340G>A c.10053G>A (p.Gln3351=) c.10275G>A (p.Gln3425=) c.10029G>A (p.Gln3343=) c.5298G>A (p.Gln1766=) c.3048G>A (p.Gln1016=) c.4011G>A (p.Gln1337=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088365T>A | CA343998333 | ASPM | n.3339A>T c.10052A>T (p.Gln3351Leu) c.10274A>T (p.Gln3425Leu) c.10028A>T (p.Gln3343Leu) c.5297A>T (p.Gln1766Leu) c.3047A>T (p.Gln1016Leu) c.4010A>T (p.Gln1337Leu) | |
1 | g.197088365T>C | CA343998335 | ASPM | n.3339A>G c.10052A>G (p.Gln3351Arg) c.10274A>G (p.Gln3425Arg) c.10028A>G (p.Gln3343Arg) c.5297A>G (p.Gln1766Arg) c.3047A>G (p.Gln1016Arg) c.4010A>G (p.Gln1337Arg) | |
1 | g.197088365T>G | CA343998339 | ASPM | n.3339A>C c.10052A>C (p.Gln3351Pro) c.10274A>C (p.Gln3425Pro) c.10028A>C (p.Gln3343Pro) c.5297A>C (p.Gln1766Pro) c.3047A>C (p.Gln1016Pro) c.4010A>C (p.Gln1337Pro) | |
1 | g.197088366G>A | CA343998352 | ASPM | n.3338C>T c.10051C>T (p.Gln3351Ter) c.10273C>T (p.Gln3425Ter) c.10027C>T (p.Gln3343Ter) c.5296C>T (p.Gln1766Ter) c.3046C>T (p.Gln1016Ter) c.4009C>T (p.Gln1337Ter) | |
1 | g.197088366G>C | CA343998347 | ASPM | n.3338C>G c.10051C>G (p.Gln3351Glu) c.10273C>G (p.Gln3425Glu) c.10027C>G (p.Gln3343Glu) c.5296C>G (p.Gln1766Glu) c.3046C>G (p.Gln1016Glu) c.4009C>G (p.Gln1337Glu) | |
1 | g.197088366G>T | CA343998344 | ASPM | n.3338C>A c.10051C>A (p.Gln3351Lys) c.10273C>A (p.Gln3425Lys) c.10027C>A (p.Gln3343Lys) c.5296C>A (p.Gln1766Lys) c.3046C>A (p.Gln1016Lys) c.4009C>A (p.Gln1337Lys) | |
1 | g.197088367C>A | CA343998354 | ASPM | n.3337G>T c.10050G>T (p.Leu3350Phe) c.10272G>T (p.Leu3424Phe) c.10026G>T (p.Leu3342Phe) c.5295G>T (p.Leu1765Phe) c.3045G>T (p.Leu1015Phe) c.4008G>T (p.Leu1336Phe) | |
1 | g.197088367C= | CA1217923566 | ASPM | n.3337G= c.10050G= (p.Leu3350=) c.10272G= (p.Leu3424=) c.10026G= (p.Leu3342=) c.5295G= (p.Leu1765=) c.3045G= (p.Leu1015=) c.4008G= (p.Leu1336=) | |
1 | g.197088367C>G | CA343998357 | ASPM | n.3337G>C c.10050G>C (p.Leu3350Phe) c.10272G>C (p.Leu3424Phe) c.10026G>C (p.Leu3342Phe) c.5295G>C (p.Leu1765Phe) c.3045G>C (p.Leu1015Phe) c.4008G>C (p.Leu1336Phe) | |
1 | g.197088367C>T | CA35861089 | ASPM | n.3337G>A c.10050G>A (p.Leu3350=) c.10272G>A (p.Leu3424=) c.10026G>A (p.Leu3342=) c.5295G>A (p.Leu1765=) c.3045G>A (p.Leu1015=) c.4008G>A (p.Leu1336=) | dbSNP |
1 | g.197088368A>C | CA343998362 | ASPM | n.3336T>G c.10049T>G (p.Leu3350Trp) c.10271T>G (p.Leu3424Trp) c.10025T>G (p.Leu3342Trp) c.5294T>G (p.Leu1765Trp) c.3044T>G (p.Leu1015Trp) c.4007T>G (p.Leu1336Trp) | |
1 | g.197088368A>G | CA343998373 | ASPM | n.3336T>C c.10049T>C (p.Leu3350Ser) c.10271T>C (p.Leu3424Ser) c.10025T>C (p.Leu3342Ser) c.5294T>C (p.Leu1765Ser) c.3044T>C (p.Leu1015Ser) c.4007T>C (p.Leu1336Ser) | |
1 | g.197088368A>T | CA343998386 | ASPM | n.3336T>A c.10049T>A (p.Leu3350Ter) c.10271T>A (p.Leu3424Ter) c.10025T>A (p.Leu3342Ter) c.5294T>A (p.Leu1765Ter) c.3044T>A (p.Leu1015Ter) c.4007T>A (p.Leu1336Ter) | |
1 | g.197088371del | CA2649660433 | ASPM | n.3336del c.10049del (p.Leu3350CysfsTer?) c.10271del (p.Leu3424CysfsTer?) c.10025del (p.Leu3342CysfsTer?) c.5294del (p.Leu1765CysfsTer?) c.3044del (p.Leu1015CysfsTer?) c.4007del (p.Leu1336CysfsTer?) | gnomAD v4 |
1 | g.197088369A>C | CA343998397 | ASPM | n.3335T>G c.10048T>G (p.Leu3350Val) c.10270T>G (p.Leu3424Val) c.10024T>G (p.Leu3342Val) c.5293T>G (p.Leu1765Val) c.3043T>G (p.Leu1015Val) c.4006T>G (p.Leu1336Val) | |
1 | g.197088369A>G | CA422672209 | ASPM | n.3335T>C c.10048T>C (p.Leu3350=) c.10270T>C (p.Leu3424=) c.10024T>C (p.Leu3342=) c.5293T>C (p.Leu1765=) c.3043T>C (p.Leu1015=) c.4006T>C (p.Leu1336=) | |
1 | g.197088369A>T | CA343998399 | ASPM | n.3335T>A c.10048T>A (p.Leu3350Met) c.10270T>A (p.Leu3424Met) c.10024T>A (p.Leu3342Met) c.5293T>A (p.Leu1765Met) c.3043T>A (p.Leu1015Met) c.4006T>A (p.Leu1336Met) | |
1 | g.197088370A>C | CA422672210 | ASPM | n.3334T>G c.10047T>G (p.Leu3349=) c.10269T>G (p.Leu3423=) c.10023T>G (p.Leu3341=) c.5292T>G (p.Leu1764=) c.3042T>G (p.Leu1014=) c.4005T>G (p.Leu1335=) | |
1 | g.197088370A>G | CA422672211 | ASPM | n.3334T>C c.10047T>C (p.Leu3349=) c.10269T>C (p.Leu3423=) c.10023T>C (p.Leu3341=) c.5292T>C (p.Leu1764=) c.3042T>C (p.Leu1014=) c.4005T>C (p.Leu1335=) | |
1 | g.197088370A>T | CA422672212 | ASPM | n.3334T>A c.10047T>A (p.Leu3349=) c.10269T>A (p.Leu3423=) c.10023T>A (p.Leu3341=) c.5292T>A (p.Leu1764=) c.3042T>A (p.Leu1014=) c.4005T>A (p.Leu1335=) | |
1 | g.197088371A>C | CA343998409 | ASPM | n.3333T>G c.10046T>G (p.Leu3349Arg) c.10268T>G (p.Leu3423Arg) c.10022T>G (p.Leu3341Arg) c.5291T>G (p.Leu1764Arg) c.3041T>G (p.Leu1014Arg) c.4004T>G (p.Leu1335Arg) | |
1 | g.197088371A>G | CA343998407 | ASPM | n.3333T>C c.10046T>C (p.Leu3349Pro) c.10268T>C (p.Leu3423Pro) c.10022T>C (p.Leu3341Pro) c.5291T>C (p.Leu1764Pro) c.3041T>C (p.Leu1014Pro) c.4004T>C (p.Leu1335Pro) | |
1 | g.197088371A>T | CA343998408 | ASPM | n.3333T>A c.10046T>A (p.Leu3349His) c.10268T>A (p.Leu3423His) c.10022T>A (p.Leu3341His) c.5291T>A (p.Leu1764His) c.3041T>A (p.Leu1014His) c.4004T>A (p.Leu1335His) | |
1 | g.197088372G>A | CA343998410 | ASPM | n.3332C>T c.10045C>T (p.Leu3349Phe) c.10267C>T (p.Leu3423Phe) c.10021C>T (p.Leu3341Phe) c.5290C>T (p.Leu1764Phe) c.3040C>T (p.Leu1014Phe) c.4003C>T (p.Leu1335Phe) | |
1 | g.197088372G>C | CA343998411 | ASPM | n.3332C>G c.10045C>G (p.Leu3349Val) c.10267C>G (p.Leu3423Val) c.10021C>G (p.Leu3341Val) c.5290C>G (p.Leu1764Val) c.3040C>G (p.Leu1014Val) c.4003C>G (p.Leu1335Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088372G= | CA1217923568 | ASPM | n.3332C= c.10045C= (p.Leu3349=) c.10267C= (p.Leu3423=) c.10021C= (p.Leu3341=) c.5290C= (p.Leu1764=) c.3040C= (p.Leu1014=) c.4003C= (p.Leu1335=) | |
1 | g.197088372G>T | CA343998414 | ASPM | n.3332C>A c.10045C>A (p.Leu3349Ile) c.10267C>A (p.Leu3423Ile) c.10021C>A (p.Leu3341Ile) c.5290C>A (p.Leu1764Ile) c.3040C>A (p.Leu1014Ile) c.4003C>A (p.Leu1335Ile) | |
1 | g.197088373C>A | CA343998418 | ASPM | n.3331G>T c.10044G>T (p.Glu3348Asp) c.10266G>T (p.Glu3422Asp) c.10020G>T (p.Glu3340Asp) c.5289G>T (p.Glu1763Asp) c.3039G>T (p.Glu1013Asp) c.4002G>T (p.Glu1334Asp) | dbSNP |
1 | g.197088373C= | CA1217923570 | ASPM | n.3331G= c.10044G= (p.Glu3348=) c.10266G= (p.Glu3422=) c.10020G= (p.Glu3340=) c.5289G= (p.Glu1763=) c.3039G= (p.Glu1013=) c.4002G= (p.Glu1334=) | |
1 | g.197088373C>G | CA343998420 | ASPM | n.3331G>C c.10044G>C (p.Glu3348Asp) c.10266G>C (p.Glu3422Asp) c.10020G>C (p.Glu3340Asp) c.5289G>C (p.Glu1763Asp) c.3039G>C (p.Glu1013Asp) c.4002G>C (p.Glu1334Asp) | |
1 | g.197088373C>T | CA422672213 | ASPM | n.3331G>A c.10044G>A (p.Glu3348=) c.10266G>A (p.Glu3422=) c.10020G>A (p.Glu3340=) c.5289G>A (p.Glu1763=) c.3039G>A (p.Glu1013=) c.4002G>A (p.Glu1334=) | |
1 | g.197088374T>A | CA343998423 | ASPM | n.3330A>T c.10043A>T (p.Glu3348Val) c.10265A>T (p.Glu3422Val) c.10019A>T (p.Glu3340Val) c.5288A>T (p.Glu1763Val) c.3038A>T (p.Glu1013Val) c.4001A>T (p.Glu1334Val) | |
1 | g.197088374T>C | CA343998432 | ASPM | n.3330A>G c.10043A>G (p.Glu3348Gly) c.10265A>G (p.Glu3422Gly) c.10019A>G (p.Glu3340Gly) c.5288A>G (p.Glu1763Gly) c.3038A>G (p.Glu1013Gly) c.4001A>G (p.Glu1334Gly) | gnomAD v4 |
1 | g.197088374T>G | CA343998428 | ASPM | n.3330A>C c.10043A>C (p.Glu3348Ala) c.10265A>C (p.Glu3422Ala) c.10019A>C (p.Glu3340Ala) c.5288A>C (p.Glu1763Ala) c.3038A>C (p.Glu1013Ala) c.4001A>C (p.Glu1334Ala) | |
1 | g.197088375C>A | CA343998436 | ASPM | n.3329G>T c.10042G>T (p.Glu3348Ter) c.10264G>T (p.Glu3422Ter) c.10018G>T (p.Glu3340Ter) c.5287G>T (p.Glu1763Ter) c.3037G>T (p.Glu1013Ter) c.4000G>T (p.Glu1334Ter) | |
1 | g.197088375C>G | CA343998439 | ASPM | n.3329G>C c.10042G>C (p.Glu3348Gln) c.10264G>C (p.Glu3422Gln) c.10018G>C (p.Glu3340Gln) c.5287G>C (p.Glu1763Gln) c.3037G>C (p.Glu1013Gln) c.4000G>C (p.Glu1334Gln) | |
1 | g.197088375C>T | CA343998443 | ASPM | n.3329G>A c.10042G>A (p.Glu3348Lys) c.10264G>A (p.Glu3422Lys) c.10018G>A (p.Glu3340Lys) c.5287G>A (p.Glu1763Lys) c.3037G>A (p.Glu1013Lys) c.4000G>A (p.Glu1334Lys) | |
1 | g.197088376C>A | CA343998446 | ASPM | n.3328G>T c.10041G>T (p.Leu3347Phe) c.10263G>T (p.Leu3421Phe) c.10017G>T (p.Leu3339Phe) c.5286G>T (p.Leu1762Phe) c.3036G>T (p.Leu1012Phe) c.3999G>T (p.Leu1333Phe) | |
1 | g.197088376C= | CA1143210877 | ASPM | n.3328G= c.10041G= (p.Leu3347=) c.10263G= (p.Leu3421=) c.10017G= (p.Leu3339=) c.5286G= (p.Leu1762=) c.3036G= (p.Leu1012=) c.3999G= (p.Leu1333=) | |
1 | g.197088376C>G | CA343998449 | ASPM | n.3328G>C c.10041G>C (p.Leu3347Phe) c.10263G>C (p.Leu3421Phe) c.10017G>C (p.Leu3339Phe) c.5286G>C (p.Leu1762Phe) c.3036G>C (p.Leu1012Phe) c.3999G>C (p.Leu1333Phe) | |
1 | g.197088376C>T | CA1308804 | ASPM | n.3328G>A c.10041G>A (p.Leu3347=) c.10263G>A (p.Leu3421=) c.10017G>A (p.Leu3339=) c.5286G>A (p.Leu1762=) c.3036G>A (p.Leu1012=) c.3999G>A (p.Leu1333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088377A>C | CA343998463 | ASPM | n.3327T>G c.10040T>G (p.Leu3347Trp) c.10262T>G (p.Leu3421Trp) c.10016T>G (p.Leu3339Trp) c.5285T>G (p.Leu1762Trp) c.3035T>G (p.Leu1012Trp) c.3998T>G (p.Leu1333Trp) | |
1 | g.197088377A>G | CA343998484 | ASPM | n.3327T>C c.10040T>C (p.Leu3347Ser) c.10262T>C (p.Leu3421Ser) c.10016T>C (p.Leu3339Ser) c.5285T>C (p.Leu1762Ser) c.3035T>C (p.Leu1012Ser) c.3998T>C (p.Leu1333Ser) | gnomAD v4 |
1 | g.197088377A>T | CA343998491 | ASPM | n.3327T>A c.10040T>A (p.Leu3347Ter) c.10262T>A (p.Leu3421Ter) c.10016T>A (p.Leu3339Ter) c.5285T>A (p.Leu1762Ter) c.3035T>A (p.Leu1012Ter) c.3998T>A (p.Leu1333Ter) | |
1 | g.197088378A= | CA1217923574 | ASPM | n.3326T= c.10039T= (p.Leu3347=) c.10261T= (p.Leu3421=) c.10015T= (p.Leu3339=) c.5284T= (p.Leu1762=) c.3034T= (p.Leu1012=) c.3997T= (p.Leu1333=) | |
1 | g.197088378A>C | CA343998495 | ASPM | n.3326T>G c.10039T>G (p.Leu3347Val) c.10261T>G (p.Leu3421Val) c.10015T>G (p.Leu3339Val) c.5284T>G (p.Leu1762Val) c.3034T>G (p.Leu1012Val) c.3997T>G (p.Leu1333Val) | |
1 | g.197088378A>G | CA10608701 | ASPM | n.3326T>C c.10039T>C (p.Leu3347=) c.10261T>C (p.Leu3421=) c.10015T>C (p.Leu3339=) c.5284T>C (p.Leu1762=) c.3034T>C (p.Leu1012=) c.3997T>C (p.Leu1333=) | ClinVar dbSNP gnomAD v4 |
1 | g.197088378A>T | CA343998506 | ASPM | n.3326T>A c.10039T>A (p.Leu3347Met) c.10261T>A (p.Leu3421Met) c.10015T>A (p.Leu3339Met) c.5284T>A (p.Leu1762Met) c.3034T>A (p.Leu1012Met) c.3997T>A (p.Leu1333Met) | |
1 | g.197088379T>A | CA422672215 | ASPM | n.3325A>T c.10038A>T (p.Leu3346=) c.10260A>T (p.Leu3420=) c.10014A>T (p.Leu3338=) c.5283A>T (p.Leu1761=) c.3033A>T (p.Leu1011=) c.3996A>T (p.Leu1332=) | |
1 | g.197088379T>C | CA422672216 | ASPM | n.3325A>G c.10038A>G (p.Leu3346=) c.10260A>G (p.Leu3420=) c.10014A>G (p.Leu3338=) c.5283A>G (p.Leu1761=) c.3033A>G (p.Leu1011=) c.3996A>G (p.Leu1332=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088379T>G | CA422672217 | ASPM | n.3325A>C c.10038A>C (p.Leu3346=) c.10260A>C (p.Leu3420=) c.10014A>C (p.Leu3338=) c.5283A>C (p.Leu1761=) c.3033A>C (p.Leu1011=) c.3996A>C (p.Leu1332=) | |
1 | g.197088379T= | CA1217923576 | ASPM | n.3325A= c.10038A= (p.Leu3346=) c.10260A= (p.Leu3420=) c.10014A= (p.Leu3338=) c.5283A= (p.Leu1761=) c.3033A= (p.Leu1011=) c.3996A= (p.Leu1332=) | |
1 | g.197088380A>C | CA343998511 | ASPM | n.3324T>G c.10037T>G (p.Leu3346Arg) c.10259T>G (p.Leu3420Arg) c.10013T>G (p.Leu3338Arg) c.5282T>G (p.Leu1761Arg) c.3032T>G (p.Leu1011Arg) c.3995T>G (p.Leu1332Arg) | |
1 | g.197088380A>G | CA343998516 | ASPM | n.3324T>C c.10037T>C (p.Leu3346Pro) c.10259T>C (p.Leu3420Pro) c.10013T>C (p.Leu3338Pro) c.5282T>C (p.Leu1761Pro) c.3032T>C (p.Leu1011Pro) c.3995T>C (p.Leu1332Pro) | gnomAD v4 |
1 | g.197088380A>T | CA343998513 | ASPM | n.3324T>A c.10037T>A (p.Leu3346Gln) c.10259T>A (p.Leu3420Gln) c.10013T>A (p.Leu3338Gln) c.5282T>A (p.Leu1761Gln) c.3032T>A (p.Leu1011Gln) c.3995T>A (p.Leu1332Gln) | |
1 | g.197088381G>A | CA422672218 | ASPM | n.3323C>T c.10036C>T (p.Leu3346=) c.10258C>T (p.Leu3420=) c.10012C>T (p.Leu3338=) c.5281C>T (p.Leu1761=) c.3031C>T (p.Leu1011=) c.3994C>T (p.Leu1332=) | |
1 | g.197088381G>C | CA343998525 | ASPM | n.3323C>G c.10036C>G (p.Leu3346Val) c.10258C>G (p.Leu3420Val) c.10012C>G (p.Leu3338Val) c.5281C>G (p.Leu1761Val) c.3031C>G (p.Leu1011Val) c.3994C>G (p.Leu1332Val) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088381G= | CA1217923579 | ASPM | n.3323C= c.10036C= (p.Leu3346=) c.10258C= (p.Leu3420=) c.10012C= (p.Leu3338=) c.5281C= (p.Leu1761=) c.3031C= (p.Leu1011=) c.3994C= (p.Leu1332=) | |
1 | g.197088381G>T | CA343998527 | ASPM | n.3323C>A c.10036C>A (p.Leu3346Ile) c.10258C>A (p.Leu3420Ile) c.10012C>A (p.Leu3338Ile) c.5281C>A (p.Leu1761Ile) c.3031C>A (p.Leu1011Ile) c.3994C>A (p.Leu1332Ile) | |
1 | g.197088382T>A | CA422672219 | ASPM | n.3322A>T c.10035A>T (p.Ile3345=) c.10257A>T (p.Ile3419=) c.10011A>T (p.Ile3337=) c.5280A>T (p.Ile1760=) c.3030A>T (p.Ile1010=) c.3993A>T (p.Ile1331=) | |
1 | g.197088382T>C | CA343998528 | ASPM | n.3322A>G c.10035A>G (p.Ile3345Met) c.10257A>G (p.Ile3419Met) c.10011A>G (p.Ile3337Met) c.5280A>G (p.Ile1760Met) c.3030A>G (p.Ile1010Met) c.3993A>G (p.Ile1331Met) | |
1 | g.197088382T>G | CA422672220 | ASPM | n.3322A>C c.10035A>C (p.Ile3345=) c.10257A>C (p.Ile3419=) c.10011A>C (p.Ile3337=) c.5280A>C (p.Ile1760=) c.3030A>C (p.Ile1010=) c.3993A>C (p.Ile1331=) | |
1 | g.197088383A= | CA1217923580 | ASPM | n.3321T= c.10034T= (p.Ile3345=) c.10256T= (p.Ile3419=) c.10010T= (p.Ile3337=) c.5279T= (p.Ile1760=) c.3029T= (p.Ile1010=) c.3992T= (p.Ile1331=) | |
1 | g.197088383A>C | CA343998529 | ASPM | n.3321T>G c.10034T>G (p.Ile3345Arg) c.10256T>G (p.Ile3419Arg) c.10010T>G (p.Ile3337Arg) c.5279T>G (p.Ile1760Arg) c.3029T>G (p.Ile1010Arg) c.3992T>G (p.Ile1331Arg) | |
1 | g.197088383A>G | CA343998532 | ASPM | n.3321T>C c.10034T>C (p.Ile3345Thr) c.10256T>C (p.Ile3419Thr) c.10010T>C (p.Ile3337Thr) c.5279T>C (p.Ile1760Thr) c.3029T>C (p.Ile1010Thr) c.3992T>C (p.Ile1331Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088383A>T | CA343998535 | ASPM | n.3321T>A c.10034T>A (p.Ile3345Lys) c.10256T>A (p.Ile3419Lys) c.10010T>A (p.Ile3337Lys) c.5279T>A (p.Ile1760Lys) c.3029T>A (p.Ile1010Lys) c.3992T>A (p.Ile1331Lys) | ClinVar dbSNP gnomAD v4 |
1 | g.197088384del | CA2573629514 | ASPM | n.3320del c.10033del (p.Ile3345TyrfsTer?) c.10255del (p.Ile3419TyrfsTer?) c.10009del (p.Ile3337TyrfsTer?) c.5278del (p.Ile1760TyrfsTer?) c.3028del (p.Ile1010TyrfsTer?) c.3991del (p.Ile1331TyrfsTer?) | |
1 | g.197088384T>A | CA343998539 | ASPM | n.3320A>T c.10033A>T (p.Ile3345Leu) c.10255A>T (p.Ile3419Leu) c.10009A>T (p.Ile3337Leu) c.5278A>T (p.Ile1760Leu) c.3028A>T (p.Ile1010Leu) c.3991A>T (p.Ile1331Leu) | |
1 | g.197088384T>C | CA343998541 | ASPM | n.3320A>G c.10033A>G (p.Ile3345Val) c.10255A>G (p.Ile3419Val) c.10009A>G (p.Ile3337Val) c.5278A>G (p.Ile1760Val) c.3028A>G (p.Ile1010Val) c.3991A>G (p.Ile1331Val) | |
1 | g.197088384T>G | CA343998549 | ASPM | n.3320A>C c.10033A>C (p.Ile3345Leu) c.10255A>C (p.Ile3419Leu) c.10009A>C (p.Ile3337Leu) c.5278A>C (p.Ile1760Leu) c.3028A>C (p.Ile1010Leu) c.3991A>C (p.Ile1331Leu) | |
1 | g.197088385A>C | CA343998552 | ASPM | n.3319T>G c.10032T>G (p.Asp3344Glu) c.10254T>G (p.Asp3418Glu) c.10008T>G (p.Asp3336Glu) c.5277T>G (p.Asp1759Glu) c.3027T>G (p.Asp1009Glu) c.3990T>G (p.Asp1330Glu) | |
1 | g.197088385A>G | CA422672221 | ASPM | n.3319T>C c.10032T>C (p.Asp3344=) c.10254T>C (p.Asp3418=) c.10008T>C (p.Asp3336=) c.5277T>C (p.Asp1759=) c.3027T>C (p.Asp1009=) c.3990T>C (p.Asp1330=) | |
1 | g.197088385A>T | CA343998553 | ASPM | n.3319T>A c.10032T>A (p.Asp3344Glu) c.10254T>A (p.Asp3418Glu) c.10008T>A (p.Asp3336Glu) c.5277T>A (p.Asp1759Glu) c.3027T>A (p.Asp1009Glu) c.3990T>A (p.Asp1330Glu) | |
1 | g.197088386T>A | CA343998557 | ASPM | n.3318A>T c.10031A>T (p.Asp3344Val) c.10253A>T (p.Asp3418Val) c.10007A>T (p.Asp3336Val) c.5276A>T (p.Asp1759Val) c.3026A>T (p.Asp1009Val) c.3989A>T (p.Asp1330Val) | |
1 | g.197088386T>C | CA343998556 | ASPM | n.3318A>G c.10031A>G (p.Asp3344Gly) c.10253A>G (p.Asp3418Gly) c.10007A>G (p.Asp3336Gly) c.5276A>G (p.Asp1759Gly) c.3026A>G (p.Asp1009Gly) c.3989A>G (p.Asp1330Gly) | gnomAD v4 |
1 | g.197088386T>G | CA35861095 | ASPM | n.3318A>C c.10031A>C (p.Asp3344Ala) c.10253A>C (p.Asp3418Ala) c.10007A>C (p.Asp3336Ala) c.5276A>C (p.Asp1759Ala) c.3026A>C (p.Asp1009Ala) c.3989A>C (p.Asp1330Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088386T= | CA1217923583 | ASPM | n.3318A= c.10031A= (p.Asp3344=) c.10253A= (p.Asp3418=) c.10007A= (p.Asp3336=) c.5276A= (p.Asp1759=) c.3026A= (p.Asp1009=) c.3989A= (p.Asp1330=) | |
1 | g.197088387C>A | CA343998559 | ASPM | n.3317G>T c.10030G>T (p.Asp3344Tyr) c.10252G>T (p.Asp3418Tyr) c.10006G>T (p.Asp3336Tyr) c.5275G>T (p.Asp1759Tyr) c.3025G>T (p.Asp1009Tyr) c.3988G>T (p.Asp1330Tyr) | |
1 | g.197088387C>G | CA343998560 | ASPM | n.3317G>C c.10030G>C (p.Asp3344His) c.10252G>C (p.Asp3418His) c.10006G>C (p.Asp3336His) c.5275G>C (p.Asp1759His) c.3025G>C (p.Asp1009His) c.3988G>C (p.Asp1330His) | |
1 | g.197088387C>T | CA343998561 | ASPM | n.3317G>A c.10030G>A (p.Asp3344Asn) c.10252G>A (p.Asp3418Asn) c.10006G>A (p.Asp3336Asn) c.5275G>A (p.Asp1759Asn) c.3025G>A (p.Asp1009Asn) c.3988G>A (p.Asp1330Asn) | |
1 | g.197088388T>A | CA422672223 | ASPM | n.3316A>T c.10029A>T (p.Ile3343=) c.10251A>T (p.Ile3417=) c.10005A>T (p.Ile3335=) c.5274A>T (p.Ile1758=) c.3024A>T (p.Ile1008=) c.3987A>T (p.Ile1329=) | |
1 | g.197088388T>C | CA35861098 | ASPM | n.3316A>G c.10029A>G (p.Ile3343Met) c.10251A>G (p.Ile3417Met) c.10005A>G (p.Ile3335Met) c.5274A>G (p.Ile1758Met) c.3024A>G (p.Ile1008Met) c.3987A>G (p.Ile1329Met) | dbSNP gnomAD v4 |
1 | g.197088388T>G | CA422672222 | ASPM | n.3316A>C c.10029A>C (p.Ile3343=) c.10251A>C (p.Ile3417=) c.10005A>C (p.Ile3335=) c.5274A>C (p.Ile1758=) c.3024A>C (p.Ile1008=) c.3987A>C (p.Ile1329=) | |
1 | g.197088388T= | CA1217923585 | ASPM | n.3316A= c.10029A= (p.Ile3343=) c.10251A= (p.Ile3417=) c.10005A= (p.Ile3335=) c.5274A= (p.Ile1758=) c.3024A= (p.Ile1008=) c.3987A= (p.Ile1329=) | |
1 | g.197088389A= | CA1217923587 | ASPM | n.3315T= c.10028T= (p.Ile3343=) c.10250T= (p.Ile3417=) c.10004T= (p.Ile3335=) c.5273T= (p.Ile1758=) c.3023T= (p.Ile1008=) c.3986T= (p.Ile1329=) | |
1 | g.197088389A>C | CA343998562 | ASPM | n.3315T>G c.10028T>G (p.Ile3343Arg) c.10250T>G (p.Ile3417Arg) c.10004T>G (p.Ile3335Arg) c.5273T>G (p.Ile1758Arg) c.3023T>G (p.Ile1008Arg) c.3986T>G (p.Ile1329Arg) | |
1 | g.197088389A>G | CA1308805 | ASPM | n.3315T>C c.10028T>C (p.Ile3343Thr) c.10250T>C (p.Ile3417Thr) c.10004T>C (p.Ile3335Thr) c.5273T>C (p.Ile1758Thr) c.3023T>C (p.Ile1008Thr) c.3986T>C (p.Ile1329Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088389A>T | CA343998563 | ASPM | n.3315T>A c.10028T>A (p.Ile3343Lys) c.10250T>A (p.Ile3417Lys) c.10004T>A (p.Ile3335Lys) c.5273T>A (p.Ile1758Lys) c.3023T>A (p.Ile1008Lys) c.3986T>A (p.Ile1329Lys) | |
1 | g.197088390T>A | CA343998564 | ASPM | n.3314A>T c.10027A>T (p.Ile3343Leu) c.10249A>T (p.Ile3417Leu) c.10003A>T (p.Ile3335Leu) c.5272A>T (p.Ile1758Leu) c.3022A>T (p.Ile1008Leu) c.3985A>T (p.Ile1329Leu) | |
1 | g.197088390T>C | CA343998565 | ASPM | n.3314A>G c.10027A>G (p.Ile3343Val) c.10249A>G (p.Ile3417Val) c.10003A>G (p.Ile3335Val) c.5272A>G (p.Ile1758Val) c.3022A>G (p.Ile1008Val) c.3985A>G (p.Ile1329Val) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197088390T>G | CA343998568 | ASPM | n.3314A>C c.10027A>C (p.Ile3343Leu) c.10249A>C (p.Ile3417Leu) c.10003A>C (p.Ile3335Leu) c.5272A>C (p.Ile1758Leu) c.3022A>C (p.Ile1008Leu) c.3985A>C (p.Ile1329Leu) | |
1 | g.197088390T= | CA1217923589 | ASPM | n.3314A= c.10027A= (p.Ile3343=) c.10249A= (p.Ile3417=) c.10003A= (p.Ile3335=) c.5272A= (p.Ile1758=) c.3022A= (p.Ile1008=) c.3985A= (p.Ile1329=) | |
1 | g.197088391A>C | CA343998570 | ASPM | n.3313T>G c.10026T>G (p.Cys3342Trp) c.10248T>G (p.Cys3416Trp) c.10002T>G (p.Cys3334Trp) c.5271T>G (p.Cys1757Trp) c.3021T>G (p.Cys1007Trp) c.3984T>G (p.Cys1328Trp) | |
1 | g.197088391A>G | CA422672224 | ASPM | n.3313T>C c.10026T>C (p.Cys3342=) c.10248T>C (p.Cys3416=) c.10002T>C (p.Cys3334=) c.5271T>C (p.Cys1757=) c.3021T>C (p.Cys1007=) c.3984T>C (p.Cys1328=) | |
1 | g.197088391A>T | CA343998571 | ASPM | n.3313T>A c.10026T>A (p.Cys3342Ter) c.10248T>A (p.Cys3416Ter) c.10002T>A (p.Cys3334Ter) c.5271T>A (p.Cys1757Ter) c.3021T>A (p.Cys1007Ter) c.3984T>A (p.Cys1328Ter) | |
1 | g.197088392C>A | CA343998577 | ASPM | n.3312G>T c.10025G>T (p.Cys3342Phe) c.10247G>T (p.Cys3416Phe) c.10001G>T (p.Cys3334Phe) c.5270G>T (p.Cys1757Phe) c.3020G>T (p.Cys1007Phe) c.3983G>T (p.Cys1328Phe) | |
1 | g.197088392C>G | CA343998574 | ASPM | n.3312G>C c.10025G>C (p.Cys3342Ser) c.10247G>C (p.Cys3416Ser) c.10001G>C (p.Cys3334Ser) c.5270G>C (p.Cys1757Ser) c.3020G>C (p.Cys1007Ser) c.3983G>C (p.Cys1328Ser) | |
1 | g.197088392C>T | CA343998572 | ASPM | n.3312G>A c.10025G>A (p.Cys3342Tyr) c.10247G>A (p.Cys3416Tyr) c.10001G>A (p.Cys3334Tyr) c.5270G>A (p.Cys1757Tyr) c.3020G>A (p.Cys1007Tyr) c.3983G>A (p.Cys1328Tyr) | |
1 | g.197088393A>C | CA343998580 | ASPM | n.3311T>G c.10024T>G (p.Cys3342Gly) c.10246T>G (p.Cys3416Gly) c.10000T>G (p.Cys3334Gly) c.5269T>G (p.Cys1757Gly) c.3019T>G (p.Cys1007Gly) c.3982T>G (p.Cys1328Gly) | |
1 | g.197088393A>G | CA343998585 | ASPM | n.3311T>C c.10024T>C (p.Cys3342Arg) c.10246T>C (p.Cys3416Arg) c.10000T>C (p.Cys3334Arg) c.5269T>C (p.Cys1757Arg) c.3019T>C (p.Cys1007Arg) c.3982T>C (p.Cys1328Arg) | |
1 | g.197088393A>T | CA343998582 | ASPM | n.3311T>A c.10024T>A (p.Cys3342Ser) c.10246T>A (p.Cys3416Ser) c.10000T>A (p.Cys3334Ser) c.5269T>A (p.Cys1757Ser) c.3019T>A (p.Cys1007Ser) c.3982T>A (p.Cys1328Ser) | |
1 | g.197088394A>C | CA343998587 | ASPM | n.3310T>G c.10023T>G (p.Asn3341Lys) c.10245T>G (p.Asn3415Lys) c.9999T>G (p.Asn3333Lys) c.5268T>G (p.Asn1756Lys) c.3018T>G (p.Asn1006Lys) c.3981T>G (p.Asn1327Lys) | |
1 | g.197088394A>G | CA422672225 | ASPM | n.3310T>C c.10023T>C (p.Asn3341=) c.10245T>C (p.Asn3415=) c.9999T>C (p.Asn3333=) c.5268T>C (p.Asn1756=) c.3018T>C (p.Asn1006=) c.3981T>C (p.Asn1327=) | gnomAD v4 |
1 | g.197088394A>T | CA343998590 | ASPM | n.3310T>A c.10023T>A (p.Asn3341Lys) c.10245T>A (p.Asn3415Lys) c.9999T>A (p.Asn3333Lys) c.5268T>A (p.Asn1756Lys) c.3018T>A (p.Asn1006Lys) c.3981T>A (p.Asn1327Lys) | |
1 | g.197088395T>A | CA343998591 | ASPM | n.3309A>T c.10022A>T (p.Asn3341Ile) c.10244A>T (p.Asn3415Ile) c.9998A>T (p.Asn3333Ile) c.5267A>T (p.Asn1756Ile) c.3017A>T (p.Asn1006Ile) c.3980A>T (p.Asn1327Ile) | |
1 | g.197088395T>C | CA343998592 | ASPM | n.3309A>G c.10022A>G (p.Asn3341Ser) c.10244A>G (p.Asn3415Ser) c.9998A>G (p.Asn3333Ser) c.5267A>G (p.Asn1756Ser) c.3017A>G (p.Asn1006Ser) c.3980A>G (p.Asn1327Ser) | |
1 | g.197088395T>G | CA343998594 | ASPM | n.3309A>C c.10022A>C (p.Asn3341Thr) c.10244A>C (p.Asn3415Thr) c.9998A>C (p.Asn3333Thr) c.5267A>C (p.Asn1756Thr) c.3017A>C (p.Asn1006Thr) c.3980A>C (p.Asn1327Thr) | |
1 | g.197088396T>A | CA343998596 | ASPM | n.3308A>T c.10021A>T (p.Asn3341Tyr) c.10243A>T (p.Asn3415Tyr) c.9997A>T (p.Asn3333Tyr) c.5266A>T (p.Asn1756Tyr) c.3016A>T (p.Asn1006Tyr) c.3979A>T (p.Asn1327Tyr) | |
1 | g.197088396T>C | CA343998599 | ASPM | n.3308A>G c.10021A>G (p.Asn3341Asp) c.10243A>G (p.Asn3415Asp) c.9997A>G (p.Asn3333Asp) c.5266A>G (p.Asn1756Asp) c.3016A>G (p.Asn1006Asp) c.3979A>G (p.Asn1327Asp) | dbSNP |
1 | g.197088396T>G | CA343998602 | ASPM | n.3308A>C c.10021A>C (p.Asn3341His) c.10243A>C (p.Asn3415His) c.9997A>C (p.Asn3333His) c.5266A>C (p.Asn1756His) c.3016A>C (p.Asn1006His) c.3979A>C (p.Asn1327His) | |
1 | g.197088396T= | CA1217923591 | ASPM | n.3308A= c.10021A= (p.Asn3341=) c.10243A= (p.Asn3415=) c.9997A= (p.Asn3333=) c.5266A= (p.Asn1756=) c.3016A= (p.Asn1006=) c.3979A= (p.Asn1327=) | |
1 | g.197088397T>A | CA343998607 | ASPM | n.3307A>T c.10020A>T (p.Glu3340Asp) c.10242A>T (p.Glu3414Asp) c.9996A>T (p.Glu3332Asp) c.5265A>T (p.Glu1755Asp) c.3015A>T (p.Glu1005Asp) c.3978A>T (p.Glu1326Asp) | |
1 | g.197088397T>C | CA422672226 | ASPM | n.3307A>G c.10020A>G (p.Glu3340=) c.10242A>G (p.Glu3414=) c.9996A>G (p.Glu3332=) c.5265A>G (p.Glu1755=) c.3015A>G (p.Glu1005=) c.3978A>G (p.Glu1326=) | |
1 | g.197088397T>G | CA343998608 | ASPM | n.3307A>C c.10020A>C (p.Glu3340Asp) c.10242A>C (p.Glu3414Asp) c.9996A>C (p.Glu3332Asp) c.5265A>C (p.Glu1755Asp) c.3015A>C (p.Glu1005Asp) c.3978A>C (p.Glu1326Asp) | |
1 | g.197088398T>A | CA343998613 | ASPM | n.3306A>T c.10019A>T (p.Glu3340Val) c.10241A>T (p.Glu3414Val) c.9995A>T (p.Glu3332Val) c.5264A>T (p.Glu1755Val) c.3014A>T (p.Glu1005Val) c.3977A>T (p.Glu1326Val) | |
1 | g.197088398T>C | CA1308806 | ASPM | n.3306A>G c.10019A>G (p.Glu3340Gly) c.10241A>G (p.Glu3414Gly) c.9995A>G (p.Glu3332Gly) c.5264A>G (p.Glu1755Gly) c.3014A>G (p.Glu1005Gly) c.3977A>G (p.Glu1326Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088398T>G | CA343998625 | ASPM | n.3306A>C c.10019A>C (p.Glu3340Ala) c.10241A>C (p.Glu3414Ala) c.9995A>C (p.Glu3332Ala) c.5264A>C (p.Glu1755Ala) c.3014A>C (p.Glu1005Ala) c.3977A>C (p.Glu1326Ala) | |
1 | g.197088398T= | CA1217923593 | ASPM | n.3306A= c.10019A= (p.Glu3340=) c.10241A= (p.Glu3414=) c.9995A= (p.Glu3332=) c.5264A= (p.Glu1755=) c.3014A= (p.Glu1005=) c.3977A= (p.Glu1326=) | |
1 | g.197088399C>A | CA343998631 | ASPM | n.3305G>T c.10018G>T (p.Glu3340Ter) c.10240G>T (p.Glu3414Ter) c.9994G>T (p.Glu3332Ter) c.5263G>T (p.Glu1755Ter) c.3013G>T (p.Glu1005Ter) c.3976G>T (p.Glu1326Ter) | |
1 | g.197088399C>G | CA343998628 | ASPM | n.3305G>C c.10018G>C (p.Glu3340Gln) c.10240G>C (p.Glu3414Gln) c.9994G>C (p.Glu3332Gln) c.5263G>C (p.Glu1755Gln) c.3013G>C (p.Glu1005Gln) c.3976G>C (p.Glu1326Gln) | |
1 | g.197088399C>T | CA343998626 | ASPM | n.3305G>A c.10018G>A (p.Glu3340Lys) c.10240G>A (p.Glu3414Lys) c.9994G>A (p.Glu3332Lys) c.5263G>A (p.Glu1755Lys) c.3013G>A (p.Glu1005Lys) c.3976G>A (p.Glu1326Lys) | |
1 | g.197088400T>A | CA422672227 | ASPM | n.3304A>T c.10017A>T (p.Val3339=) c.10239A>T (p.Val3413=) c.9993A>T (p.Val3331=) c.5262A>T (p.Val1754=) c.3012A>T (p.Val1004=) c.3975A>T (p.Val1325=) | |
1 | g.197088400T>C | CA422672228 | ASPM | n.3304A>G c.10017A>G (p.Val3339=) c.10239A>G (p.Val3413=) c.9993A>G (p.Val3331=) c.5262A>G (p.Val1754=) c.3012A>G (p.Val1004=) c.3975A>G (p.Val1325=) | |
1 | g.197088400T>G | CA35861108 | ASPM | n.3304A>C c.10017A>C (p.Val3339=) c.10239A>C (p.Val3413=) c.9993A>C (p.Val3331=) c.5262A>C (p.Val1754=) c.3012A>C (p.Val1004=) c.3975A>C (p.Val1325=) | dbSNP gnomAD v4 |
1 | g.197088400T= | CA1143567184 | ASPM | n.3304A= c.10017A= (p.Val3339=) c.10239A= (p.Val3413=) c.9993A= (p.Val3331=) c.5262A= (p.Val1754=) c.3012A= (p.Val1004=) c.3975A= (p.Val1325=) | |
1 | g.197088401A>C | CA343998633 | ASPM | n.3303T>G c.10016T>G (p.Val3339Gly) c.10238T>G (p.Val3413Gly) c.9992T>G (p.Val3331Gly) c.5261T>G (p.Val1754Gly) c.3011T>G (p.Val1004Gly) c.3974T>G (p.Val1325Gly) | |
1 | g.197088401A>G | CA343998634 | ASPM | n.3303T>C c.10016T>C (p.Val3339Ala) c.10238T>C (p.Val3413Ala) c.9992T>C (p.Val3331Ala) c.5261T>C (p.Val1754Ala) c.3011T>C (p.Val1004Ala) c.3974T>C (p.Val1325Ala) | gnomAD v4 |
1 | g.197088401A>T | CA343998636 | ASPM | n.3303T>A c.10016T>A (p.Val3339Glu) c.10238T>A (p.Val3413Glu) c.9992T>A (p.Val3331Glu) c.5261T>A (p.Val1754Glu) c.3011T>A (p.Val1004Glu) c.3974T>A (p.Val1325Glu) | |
1 | g.197088402C>A | CA343998640 | ASPM | n.3302G>T c.10015G>T (p.Val3339Leu) c.10237G>T (p.Val3413Leu) c.9991G>T (p.Val3331Leu) c.5260G>T (p.Val1754Leu) c.3010G>T (p.Val1004Leu) c.3973G>T (p.Val1325Leu) | |
1 | g.197088402C= | CA1217923595 | ASPM | n.3302G= c.10015G= (p.Val3339=) c.10237G= (p.Val3413=) c.9991G= (p.Val3331=) c.5260G= (p.Val1754=) c.3010G= (p.Val1004=) c.3973G= (p.Val1325=) | |
1 | g.197088402C>G | CA343998642 | ASPM | n.3302G>C c.10015G>C (p.Val3339Leu) c.10237G>C (p.Val3413Leu) c.9991G>C (p.Val3331Leu) c.5260G>C (p.Val1754Leu) c.3010G>C (p.Val1004Leu) c.3973G>C (p.Val1325Leu) | |
1 | g.197088402C>T | CA343998649 | ASPM | n.3302G>A c.10015G>A (p.Val3339Ile) c.10237G>A (p.Val3413Ile) c.9991G>A (p.Val3331Ile) c.5260G>A (p.Val1754Ile) c.3010G>A (p.Val1004Ile) c.3973G>A (p.Val1325Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197088403A>C | CA343998650 | ASPM | n.3301T>G c.10014T>G (p.Asp3338Glu) c.10236T>G (p.Asp3412Glu) c.9990T>G (p.Asp3330Glu) c.5259T>G (p.Asp1753Glu) c.3009T>G (p.Asp1003Glu) c.3972T>G (p.Asp1324Glu) | |
1 | g.197088403A>G | CA422672229 | ASPM | n.3301T>C c.10014T>C (p.Asp3338=) c.10236T>C (p.Asp3412=) c.9990T>C (p.Asp3330=) c.5259T>C (p.Asp1753=) c.3009T>C (p.Asp1003=) c.3972T>C (p.Asp1324=) | |
1 | g.197088403A>T | CA343998653 | ASPM | n.3301T>A c.10014T>A (p.Asp3338Glu) c.10236T>A (p.Asp3412Glu) c.9990T>A (p.Asp3330Glu) c.5259T>A (p.Asp1753Glu) c.3009T>A (p.Asp1003Glu) c.3972T>A (p.Asp1324Glu) | |
1 | g.197088404del | CA2586967835 | ASPM | n.3300del c.10013del (p.Asp3338ValfsTer2) c.10235del (p.Asp3412ValfsTer2) c.9989del (p.Asp3330ValfsTer2) c.5258del (p.Asp1753ValfsTer2) c.3008del (p.Asp1003ValfsTer2) c.3971del (p.Asp1324ValfsTer2) | |
1 | g.197088404T>A | CA343998655 | ASPM | n.3300A>T c.10013A>T (p.Asp3338Val) c.10235A>T (p.Asp3412Val) c.9989A>T (p.Asp3330Val) c.5258A>T (p.Asp1753Val) c.3008A>T (p.Asp1003Val) c.3971A>T (p.Asp1324Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088404T>C | CA343998656 | ASPM | n.3300A>G c.10013A>G (p.Asp3338Gly) c.10235A>G (p.Asp3412Gly) c.9989A>G (p.Asp3330Gly) c.5258A>G (p.Asp1753Gly) c.3008A>G (p.Asp1003Gly) c.3971A>G (p.Asp1324Gly) | |
1 | g.197088404T>G | CA343998657 | ASPM | n.3300A>C c.10013A>C (p.Asp3338Ala) c.10235A>C (p.Asp3412Ala) c.9989A>C (p.Asp3330Ala) c.5258A>C (p.Asp1753Ala) c.3008A>C (p.Asp1003Ala) c.3971A>C (p.Asp1324Ala) | |
1 | g.197088404T= | CA1217923597 | ASPM | n.3300A= c.10013A= (p.Asp3338=) c.10235A= (p.Asp3412=) c.9989A= (p.Asp3330=) c.5258A= (p.Asp1753=) c.3008A= (p.Asp1003=) c.3971A= (p.Asp1324=) | |
1 | g.197088405C>A | CA343998664 | ASPM | n.3299G>T c.10012G>T (p.Asp3338Tyr) c.10234G>T (p.Asp3412Tyr) c.9988G>T (p.Asp3330Tyr) c.5257G>T (p.Asp1753Tyr) c.3007G>T (p.Asp1003Tyr) c.3970G>T (p.Asp1324Tyr) | |
1 | g.197088405C>G | CA343998661 | ASPM | n.3299G>C c.10012G>C (p.Asp3338His) c.10234G>C (p.Asp3412His) c.9988G>C (p.Asp3330His) c.5257G>C (p.Asp1753His) c.3007G>C (p.Asp1003His) c.3970G>C (p.Asp1324His) | |
1 | g.197088405C>T | CA343998659 | ASPM | n.3299G>A c.10012G>A (p.Asp3338Asn) c.10234G>A (p.Asp3412Asn) c.9988G>A (p.Asp3330Asn) c.5257G>A (p.Asp1753Asn) c.3007G>A (p.Asp1003Asn) c.3970G>A (p.Asp1324Asn) | |
1 | g.197088406A>C | CA343998669 | ASPM | n.3298T>G c.10011T>G (p.Tyr3337Ter) c.10233T>G (p.Tyr3411Ter) c.9987T>G (p.Tyr3329Ter) c.5256T>G (p.Tyr1752Ter) c.3006T>G (p.Tyr1002Ter) c.3969T>G (p.Tyr1323Ter) | |
1 | g.197088406A>G | CA422672230 | ASPM | n.3298T>C c.10011T>C (p.Tyr3337=) c.10233T>C (p.Tyr3411=) c.9987T>C (p.Tyr3329=) c.5256T>C (p.Tyr1752=) c.3006T>C (p.Tyr1002=) c.3969T>C (p.Tyr1323=) | COSMIC |
1 | g.197088406A>T | CA343998673 | ASPM | n.3298T>A c.10011T>A (p.Tyr3337Ter) c.10233T>A (p.Tyr3411Ter) c.9987T>A (p.Tyr3329Ter) c.5256T>A (p.Tyr1752Ter) c.3006T>A (p.Tyr1002Ter) c.3969T>A (p.Tyr1323Ter) | |
1 | g.197088407T>A | CA343998676 | ASPM | n.3297A>T c.10010A>T (p.Tyr3337Phe) c.10232A>T (p.Tyr3411Phe) c.9986A>T (p.Tyr3329Phe) c.5255A>T (p.Tyr1752Phe) c.3005A>T (p.Tyr1002Phe) c.3968A>T (p.Tyr1323Phe) | |
1 | g.197088407T>C | CA343998677 | ASPM | n.3297A>G c.10010A>G (p.Tyr3337Cys) c.10232A>G (p.Tyr3411Cys) c.9986A>G (p.Tyr3329Cys) c.5255A>G (p.Tyr1752Cys) c.3005A>G (p.Tyr1002Cys) c.3968A>G (p.Tyr1323Cys) | |
1 | g.197088407T>G | CA343998678 | ASPM | n.3297A>C c.10010A>C (p.Tyr3337Ser) c.10232A>C (p.Tyr3411Ser) c.9986A>C (p.Tyr3329Ser) c.5255A>C (p.Tyr1752Ser) c.3005A>C (p.Tyr1002Ser) c.3968A>C (p.Tyr1323Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197088407T= | CA1217923599 | ASPM | n.3297A= c.10010A= (p.Tyr3337=) c.10232A= (p.Tyr3411=) c.9986A= (p.Tyr3329=) c.5255A= (p.Tyr1752=) c.3005A= (p.Tyr1002=) c.3968A= (p.Tyr1323=) | |
1 | g.197088408A>C | CA343998685 | ASPM | n.3296T>G c.10009T>G (p.Tyr3337Asp) c.10231T>G (p.Tyr3411Asp) c.9985T>G (p.Tyr3329Asp) c.5254T>G (p.Tyr1752Asp) c.3004T>G (p.Tyr1002Asp) c.3967T>G (p.Tyr1323Asp) | dbSNP |
1 | g.197088408A>G | CA343998683 | ASPM | n.3296T>C c.10009T>C (p.Tyr3337His) c.10231T>C (p.Tyr3411His) c.9985T>C (p.Tyr3329His) c.5254T>C (p.Tyr1752His) c.3004T>C (p.Tyr1002His) c.3967T>C (p.Tyr1323His) | gnomAD v4 |
1 | g.197088408A>T | CA343998681 | ASPM | n.3296T>A c.10009T>A (p.Tyr3337Asn) c.10231T>A (p.Tyr3411Asn) c.9985T>A (p.Tyr3329Asn) c.5254T>A (p.Tyr1752Asn) c.3004T>A (p.Tyr1002Asn) c.3967T>A (p.Tyr1323Asn) | |
1 | g.197088409A>C | CA422672231 | ASPM | n.3295T>G c.10008T>G (p.Val3336=) c.10230T>G (p.Val3410=) c.9984T>G (p.Val3328=) c.5253T>G (p.Val1751=) c.3003T>G (p.Val1001=) c.3966T>G (p.Val1322=) | |
1 | g.197088409A>G | CA422672232 | ASPM | n.3295T>C c.10008T>C (p.Val3336=) c.10230T>C (p.Val3410=) c.9984T>C (p.Val3328=) c.5253T>C (p.Val1751=) c.3003T>C (p.Val1001=) c.3966T>C (p.Val1322=) | |
1 | g.197088409A>T | CA422672233 | ASPM | n.3295T>A c.10008T>A (p.Val3336=) c.10230T>A (p.Val3410=) c.9984T>A (p.Val3328=) c.5253T>A (p.Val1751=) c.3003T>A (p.Val1001=) c.3966T>A (p.Val1322=) | |
1 | g.197088410A>C | CA343998687 | ASPM | n.3294T>G c.10007T>G (p.Val3336Gly) c.10229T>G (p.Val3410Gly) c.9983T>G (p.Val3328Gly) c.5252T>G (p.Val1751Gly) c.3002T>G (p.Val1001Gly) c.3965T>G (p.Val1322Gly) | |
1 | g.197088410A>G | CA343998689 | ASPM | n.3294T>C c.10007T>C (p.Val3336Ala) c.10229T>C (p.Val3410Ala) c.9983T>C (p.Val3328Ala) c.5252T>C (p.Val1751Ala) c.3002T>C (p.Val1001Ala) c.3965T>C (p.Val1322Ala) | |
1 | g.197088410A>T | CA343998691 | ASPM | n.3294T>A c.10007T>A (p.Val3336Asp) c.10229T>A (p.Val3410Asp) c.9983T>A (p.Val3328Asp) c.5252T>A (p.Val1751Asp) c.3002T>A (p.Val1001Asp) c.3965T>A (p.Val1322Asp) | |
1 | g.197088410_197088413delinsACTG | CA1217923600 | ASPM | n.3291_3294delinsCAGT c.10004_10007delinsCAGT (p.Ala3335=) c.10226_10229delinsCAGT (p.Ala3409=) c.9980_9983delinsCAGT (p.Ala3327=) c.5249_5252delinsCAGT (p.Ala1750=) c.2999_3002delinsCAGT (p.Ala1000=) c.3962_3965delinsCAGT (p.Ala1321=) | |
1 | g.197088411C>A | CA343998701 | ASPM | n.3293G>T c.10006G>T (p.Val3336Phe) c.10228G>T (p.Val3410Phe) c.9982G>T (p.Val3328Phe) c.5251G>T (p.Val1751Phe) c.3001G>T (p.Val1001Phe) c.3964G>T (p.Val1322Phe) | |
1 | g.197088411C= | CA1217923602 | ASPM | n.3293G= c.10006G= (p.Val3336=) c.10228G= (p.Val3410=) c.9982G= (p.Val3328=) c.5251G= (p.Val1751=) c.3001G= (p.Val1001=) c.3964G= (p.Val1322=) | |
1 | g.197088411C>G | CA343998704 | ASPM | n.3293G>C c.10006G>C (p.Val3336Leu) c.10228G>C (p.Val3410Leu) c.9982G>C (p.Val3328Leu) c.5251G>C (p.Val1751Leu) c.3001G>C (p.Val1001Leu) c.3964G>C (p.Val1322Leu) | |
1 | g.197088411C>T | CA35861110 | ASPM | n.3293G>A c.10006G>A (p.Val3336Ile) c.10228G>A (p.Val3410Ile) c.9982G>A (p.Val3328Ile) c.5251G>A (p.Val1751Ile) c.3001G>A (p.Val1001Ile) c.3964G>A (p.Val1322Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088414_197088416del | CA528535062 | ASPM | n.3291_3293del c.10004_10006del (p.Ala3335del) c.10226_10228del (p.Ala3409del) c.9980_9982del (p.Ala3327del) c.5249_5251del (p.Ala1750del) c.2999_3001del (p.Ala1000del) c.3962_3964del (p.Ala1321del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088412T>A | CA422672234 | ASPM | n.3292A>T c.10005A>T (p.Ala3335=) c.10227A>T (p.Ala3409=) c.9981A>T (p.Ala3327=) c.5250A>T (p.Ala1750=) c.3000A>T (p.Ala1000=) c.3963A>T (p.Ala1321=) | |
1 | g.197088412T>C | CA422672235 | ASPM | n.3292A>G c.10005A>G (p.Ala3335=) c.10227A>G (p.Ala3409=) c.9981A>G (p.Ala3327=) c.5250A>G (p.Ala1750=) c.3000A>G (p.Ala1000=) c.3963A>G (p.Ala1321=) | |
1 | g.197088412T>G | CA422672236 | ASPM | n.3292A>C c.10005A>C (p.Ala3335=) c.10227A>C (p.Ala3409=) c.9981A>C (p.Ala3327=) c.5250A>C (p.Ala1750=) c.3000A>C (p.Ala1000=) c.3963A>C (p.Ala1321=) | ClinVar |
1 | g.197088413G>A | CA343998705 | ASPM | n.3291C>T c.10004C>T (p.Ala3335Val) c.10226C>T (p.Ala3409Val) c.9980C>T (p.Ala3327Val) c.5249C>T (p.Ala1750Val) c.2999C>T (p.Ala1000Val) c.3962C>T (p.Ala1321Val) | gnomAD v4 |
1 | g.197088413G>C | CA343998711 | ASPM | n.3291C>G c.10004C>G (p.Ala3335Gly) c.10226C>G (p.Ala3409Gly) c.9980C>G (p.Ala3327Gly) c.5249C>G (p.Ala1750Gly) c.2999C>G (p.Ala1000Gly) c.3962C>G (p.Ala1321Gly) | |
1 | g.197088413G>T | CA343998707 | ASPM | n.3291C>A c.10004C>A (p.Ala3335Glu) c.10226C>A (p.Ala3409Glu) c.9980C>A (p.Ala3327Glu) c.5249C>A (p.Ala1750Glu) c.2999C>A (p.Ala1000Glu) c.3962C>A (p.Ala1321Glu) | gnomAD v4 |
1 | g.197088414C>A | CA343998716 | ASPM | n.3290G>T c.10003G>T (p.Ala3335Ser) c.10225G>T (p.Ala3409Ser) c.9979G>T (p.Ala3327Ser) c.5248G>T (p.Ala1750Ser) c.2998G>T (p.Ala1000Ser) c.3961G>T (p.Ala1321Ser) | |
1 | g.197088414C= | CA1217923605 | ASPM | n.3290G= c.10003G= (p.Ala3335=) c.10225G= (p.Ala3409=) c.9979G= (p.Ala3327=) c.5248G= (p.Ala1750=) c.2998G= (p.Ala1000=) c.3961G= (p.Ala1321=) | |
1 | g.197088414C>G | CA343998719 | ASPM | n.3290G>C c.10003G>C (p.Ala3335Pro) c.10225G>C (p.Ala3409Pro) c.9979G>C (p.Ala3327Pro) c.5248G>C (p.Ala1750Pro) c.2998G>C (p.Ala1000Pro) c.3961G>C (p.Ala1321Pro) | |
1 | g.197088414C>T | CA343998720 | ASPM | n.3290G>A c.10003G>A (p.Ala3335Thr) c.10225G>A (p.Ala3409Thr) c.9979G>A (p.Ala3327Thr) c.5248G>A (p.Ala1750Thr) c.2998G>A (p.Ala1000Thr) c.3961G>A (p.Ala1321Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088415T>A | CA422672239 | ASPM | n.3289A>T c.10002A>T (p.Ser3334=) c.10224A>T (p.Ser3408=) c.9978A>T (p.Ser3326=) c.5247A>T (p.Ser1749=) c.2997A>T (p.Ser999=) c.3960A>T (p.Ser1320=) | |
1 | g.197088415T>C | CA422672238 | ASPM | n.3289A>G c.10002A>G (p.Ser3334=) c.10224A>G (p.Ser3408=) c.9978A>G (p.Ser3326=) c.5247A>G (p.Ser1749=) c.2997A>G (p.Ser999=) c.3960A>G (p.Ser1320=) | |
1 | g.197088415T>G | CA422672237 | ASPM | n.3289A>C c.10002A>C (p.Ser3334=) c.10224A>C (p.Ser3408=) c.9978A>C (p.Ser3326=) c.5247A>C (p.Ser1749=) c.2997A>C (p.Ser999=) c.3960A>C (p.Ser1320=) | |
1 | g.197088416G>A | CA343998724 | ASPM | n.3288C>T c.10001C>T (p.Ser3334Leu) c.10223C>T (p.Ser3408Leu) c.9977C>T (p.Ser3326Leu) c.5246C>T (p.Ser1749Leu) c.2996C>T (p.Ser999Leu) c.3959C>T (p.Ser1320Leu) | |
1 | g.197088416G>C | CA343998726 | ASPM | n.3288C>G c.10001C>G (p.Ser3334Ter) c.10223C>G (p.Ser3408Ter) c.9977C>G (p.Ser3326Ter) c.5246C>G (p.Ser1749Ter) c.2996C>G (p.Ser999Ter) c.3959C>G (p.Ser1320Ter) | |
1 | g.197088416G>T | CA343998727 | ASPM | n.3288C>A c.10001C>A (p.Ser3334Ter) c.10223C>A (p.Ser3408Ter) c.9977C>A (p.Ser3326Ter) c.5246C>A (p.Ser1749Ter) c.2996C>A (p.Ser999Ter) c.3959C>A (p.Ser1320Ter) | gnomAD v4 |
1 | g.197088417A= | CA1217923607 | ASPM | n.3287T= c.10000T= (p.Ser3334=) c.10222T= (p.Ser3408=) c.9976T= (p.Ser3326=) c.5245T= (p.Ser1749=) c.2995T= (p.Ser999=) c.3958T= (p.Ser1320=) | |
1 | g.197088417A>C | CA343998730 | ASPM | n.3287T>G c.10000T>G (p.Ser3334Ala) c.10222T>G (p.Ser3408Ala) c.9976T>G (p.Ser3326Ala) c.5245T>G (p.Ser1749Ala) c.2995T>G (p.Ser999Ala) c.3958T>G (p.Ser1320Ala) | |
1 | g.197088417A>G | CA343998731 | ASPM | n.3287T>C c.10000T>C (p.Ser3334Pro) c.10222T>C (p.Ser3408Pro) c.9976T>C (p.Ser3326Pro) c.5245T>C (p.Ser1749Pro) c.2995T>C (p.Ser999Pro) c.3958T>C (p.Ser1320Pro) | |
1 | g.197088417A>T | CA1308807 | ASPM | n.3287T>A c.10000T>A (p.Ser3334Thr) c.10222T>A (p.Ser3408Thr) c.9976T>A (p.Ser3326Thr) c.5245T>A (p.Ser1749Thr) c.2995T>A (p.Ser999Thr) c.3958T>A (p.Ser1320Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088418A= | CA1217923609 | ASPM | n.3286T= c.9999T= (p.Thr3333=) c.10221T= (p.Thr3407=) c.9975T= (p.Thr3325=) c.5244T= (p.Thr1748=) c.2994T= (p.Thr998=) c.3957T= (p.Thr1319=) | |
1 | g.197088418A>C | CA422672240 | ASPM | n.3286T>G c.9999T>G (p.Thr3333=) c.10221T>G (p.Thr3407=) c.9975T>G (p.Thr3325=) c.5244T>G (p.Thr1748=) c.2994T>G (p.Thr998=) c.3957T>G (p.Thr1319=) | |
1 | g.197088418A>G | CA422672241 | ASPM | n.3286T>C c.9999T>C (p.Thr3333=) c.10221T>C (p.Thr3407=) c.9975T>C (p.Thr3325=) c.5244T>C (p.Thr1748=) c.2994T>C (p.Thr998=) c.3957T>C (p.Thr1319=) | |
1 | g.197088418A>T | CA1308808 | ASPM | n.3286T>A c.9999T>A (p.Thr3333=) c.10221T>A (p.Thr3407=) c.9975T>A (p.Thr3325=) c.5244T>A (p.Thr1748=) c.2994T>A (p.Thr998=) c.3957T>A (p.Thr1319=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197088419G>A | CA343998742 | ASPM | n.3285C>T c.9998C>T (p.Thr3333Ile) c.10220C>T (p.Thr3407Ile) c.9974C>T (p.Thr3325Ile) c.5243C>T (p.Thr1748Ile) c.2993C>T (p.Thr998Ile) c.3956C>T (p.Thr1319Ile) | gnomAD v4 |
1 | g.197088419G>C | CA343998739 | ASPM | n.3285C>G c.9998C>G (p.Thr3333Ser) c.10220C>G (p.Thr3407Ser) c.9974C>G (p.Thr3325Ser) c.5243C>G (p.Thr1748Ser) c.2993C>G (p.Thr998Ser) c.3956C>G (p.Thr1319Ser) | |
1 | g.197088419G>T | CA343998737 | ASPM | n.3285C>A c.9998C>A (p.Thr3333Asn) c.10220C>A (p.Thr3407Asn) c.9974C>A (p.Thr3325Asn) c.5243C>A (p.Thr1748Asn) c.2993C>A (p.Thr998Asn) c.3956C>A (p.Thr1319Asn) | gnomAD v4 |
1 | g.197088420T>A | CA343998748 | ASPM | n.3284A>T c.9997A>T (p.Thr3333Ser) c.10219A>T (p.Thr3407Ser) c.9973A>T (p.Thr3325Ser) c.5242A>T (p.Thr1748Ser) c.2992A>T (p.Thr998Ser) c.3955A>T (p.Thr1319Ser) | dbSNP gnomAD v4 |
1 | g.197088420T>C | CA343998751 | ASPM | n.3284A>G c.9997A>G (p.Thr3333Ala) c.10219A>G (p.Thr3407Ala) c.9973A>G (p.Thr3325Ala) c.5242A>G (p.Thr1748Ala) c.2992A>G (p.Thr998Ala) c.3955A>G (p.Thr1319Ala) | gnomAD v4 |
1 | g.197088420T>G | CA343998750 | ASPM | n.3284A>C c.9997A>C (p.Thr3333Pro) c.10219A>C (p.Thr3407Pro) c.9973A>C (p.Thr3325Pro) c.5242A>C (p.Thr1748Pro) c.2992A>C (p.Thr998Pro) c.3955A>C (p.Thr1319Pro) | |
1 | g.197088420T= | CA1217923611 | ASPM | n.3284A= c.9997A= (p.Thr3333=) c.10219A= (p.Thr3407=) c.9973A= (p.Thr3325=) c.5242A= (p.Thr1748=) c.2992A= (p.Thr998=) c.3955A= (p.Thr1319=) | |
1 | g.197088421A= | CA1141711141 | ASPM | n.3283T= c.9996T= (p.Thr3332=) c.10218T= (p.Thr3406=) c.9972T= (p.Thr3324=) c.5241T= (p.Thr1747=) c.2991T= (p.Thr997=) c.3954T= (p.Thr1318=) | |
1 | g.197088421A>C | CA422672242 | ASPM | n.3283T>G c.9996T>G (p.Thr3332=) c.10218T>G (p.Thr3406=) c.9972T>G (p.Thr3324=) c.5241T>G (p.Thr1747=) c.2991T>G (p.Thr997=) c.3954T>G (p.Thr1318=) | |
1 | g.197088421A>G | CA202063 | ASPM | n.3283T>C c.9996T>C (p.Thr3332=) c.10218T>C (p.Thr3406=) c.9972T>C (p.Thr3324=) c.5241T>C (p.Thr1747=) c.2991T>C (p.Thr997=) c.3954T>C (p.Thr1318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197088421A>T | CA422672243 | ASPM | n.3283T>A c.9996T>A (p.Thr3332=) c.10218T>A (p.Thr3406=) c.9972T>A (p.Thr3324=) c.5241T>A (p.Thr1747=) c.2991T>A (p.Thr997=) c.3954T>A (p.Thr1318=) | |
1 | g.197088422G>A | CA343998755 | ASPM | n.3282C>T c.9995C>T (p.Thr3332Ile) c.10217C>T (p.Thr3406Ile) c.9971C>T (p.Thr3324Ile) c.5240C>T (p.Thr1747Ile) c.2990C>T (p.Thr997Ile) c.3953C>T (p.Thr1318Ile) | |
1 | g.197088422G>C | CA343998759 | ASPM | n.3282C>G c.9995C>G (p.Thr3332Ser) c.10217C>G (p.Thr3406Ser) c.9971C>G (p.Thr3324Ser) c.5240C>G (p.Thr1747Ser) c.2990C>G (p.Thr997Ser) c.3953C>G (p.Thr1318Ser) | |
1 | g.197088422G>T | CA343998761 | ASPM | n.3282C>A c.9995C>A (p.Thr3332Asn) c.10217C>A (p.Thr3406Asn) c.9971C>A (p.Thr3324Asn) c.5240C>A (p.Thr1747Asn) c.2990C>A (p.Thr997Asn) c.3953C>A (p.Thr1318Asn) | |
1 | g.197088423T>A | CA343998765 | ASPM | n.3281A>T c.9994A>T (p.Thr3332Ser) c.10216A>T (p.Thr3406Ser) c.9970A>T (p.Thr3324Ser) c.5239A>T (p.Thr1747Ser) c.2989A>T (p.Thr997Ser) c.3952A>T (p.Thr1318Ser) | |
1 | g.197088423T>C | CA343998767 | ASPM | n.3281A>G c.9994A>G (p.Thr3332Ala) c.10216A>G (p.Thr3406Ala) c.9970A>G (p.Thr3324Ala) c.5239A>G (p.Thr1747Ala) c.2989A>G (p.Thr997Ala) c.3952A>G (p.Thr1318Ala) | |
1 | g.197088423T>G | CA343998769 | ASPM | n.3281A>C c.9994A>C (p.Thr3332Pro) c.10216A>C (p.Thr3406Pro) c.9970A>C (p.Thr3324Pro) c.5239A>C (p.Thr1747Pro) c.2989A>C (p.Thr997Pro) c.3952A>C (p.Thr1318Pro) | gnomAD v4 |
1 | g.197088424T>A | CA343998774 | ASPM | n.3280A>T c.9993A>T (p.Lys3331Asn) c.10215A>T (p.Lys3405Asn) c.9969A>T (p.Lys3323Asn) c.5238A>T (p.Lys1746Asn) c.2988A>T (p.Lys996Asn) c.3951A>T (p.Lys1317Asn) | |
1 | g.197088424T>C | CA422672244 | ASPM | n.3280A>G c.9993A>G (p.Lys3331=) c.10215A>G (p.Lys3405=) c.9969A>G (p.Lys3323=) c.5238A>G (p.Lys1746=) c.2988A>G (p.Lys996=) c.3951A>G (p.Lys1317=) | gnomAD v4 |
1 | g.197088424T>G | CA343998776 | ASPM | n.3280A>C c.9993A>C (p.Lys3331Asn) c.10215A>C (p.Lys3405Asn) c.9969A>C (p.Lys3323Asn) c.5238A>C (p.Lys1746Asn) c.2988A>C (p.Lys996Asn) c.3951A>C (p.Lys1317Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088424T= | CA1217923615 | ASPM | n.3280A= c.9993A= (p.Lys3331=) c.10215A= (p.Lys3405=) c.9969A= (p.Lys3323=) c.5238A= (p.Lys1746=) c.2988A= (p.Lys996=) c.3951A= (p.Lys1317=) | |
1 | g.197088425T>A | CA343998784 | ASPM | n.3279A>T c.9992A>T (p.Lys3331Ile) c.10214A>T (p.Lys3405Ile) c.9968A>T (p.Lys3323Ile) c.5237A>T (p.Lys1746Ile) c.2987A>T (p.Lys996Ile) c.3950A>T (p.Lys1317Ile) | |
1 | g.197088425T>C | CA343998788 | ASPM | n.3279A>G c.9992A>G (p.Lys3331Arg) c.10214A>G (p.Lys3405Arg) c.9968A>G (p.Lys3323Arg) c.5237A>G (p.Lys1746Arg) c.2987A>G (p.Lys996Arg) c.3950A>G (p.Lys1317Arg) | |
1 | g.197088425T>G | CA343998792 | ASPM | n.3279A>C c.9992A>C (p.Lys3331Thr) c.10214A>C (p.Lys3405Thr) c.9968A>C (p.Lys3323Thr) c.5237A>C (p.Lys1746Thr) c.2987A>C (p.Lys996Thr) c.3950A>C (p.Lys1317Thr) | gnomAD v4 |
1 | g.197088426T>A | CA343998797 | ASPM | n.3278A>T c.9991A>T (p.Lys3331Ter) c.10213A>T (p.Lys3405Ter) c.9967A>T (p.Lys3323Ter) c.5236A>T (p.Lys1746Ter) c.2986A>T (p.Lys996Ter) c.3949A>T (p.Lys1317Ter) | |
1 | g.197088426T>C | CA343998802 | ASPM | n.3278A>G c.9991A>G (p.Lys3331Glu) c.10213A>G (p.Lys3405Glu) c.9967A>G (p.Lys3323Glu) c.5236A>G (p.Lys1746Glu) c.2986A>G (p.Lys996Glu) c.3949A>G (p.Lys1317Glu) | |
1 | g.197088426T>G | CA343998799 | ASPM | n.3278A>C c.9991A>C (p.Lys3331Gln) c.10213A>C (p.Lys3405Gln) c.9967A>C (p.Lys3323Gln) c.5236A>C (p.Lys1746Gln) c.2986A>C (p.Lys996Gln) c.3949A>C (p.Lys1317Gln) | |
1 | g.197088427C>A | CA343998805 | ASPM | n.3277G>T c.9990G>T (p.Glu3330Asp) c.10212G>T (p.Glu3404Asp) c.9966G>T (p.Glu3322Asp) c.5235G>T (p.Glu1745Asp) c.2985G>T (p.Glu995Asp) c.3948G>T (p.Glu1316Asp) | |
1 | g.197088427C>G | CA343998811 | ASPM | n.3277G>C c.9990G>C (p.Glu3330Asp) c.10212G>C (p.Glu3404Asp) c.9966G>C (p.Glu3322Asp) c.5235G>C (p.Glu1745Asp) c.2985G>C (p.Glu995Asp) c.3948G>C (p.Glu1316Asp) | |
1 | g.197088427C>T | CA422672245 | ASPM | n.3277G>A c.9990G>A (p.Glu3330=) c.10212G>A (p.Glu3404=) c.9966G>A (p.Glu3322=) c.5235G>A (p.Glu1745=) c.2985G>A (p.Glu995=) c.3948G>A (p.Glu1316=) | |
1 | g.197088428T>A | CA343998815 | ASPM | n.3276A>T c.9989A>T (p.Glu3330Val) c.10211A>T (p.Glu3404Val) c.9965A>T (p.Glu3322Val) c.5234A>T (p.Glu1745Val) c.2984A>T (p.Glu995Val) c.3947A>T (p.Glu1316Val) | |
1 | g.197088428T>C | CA343998820 | ASPM | n.3276A>G c.9989A>G (p.Glu3330Gly) c.10211A>G (p.Glu3404Gly) c.9965A>G (p.Glu3322Gly) c.5234A>G (p.Glu1745Gly) c.2984A>G (p.Glu995Gly) c.3947A>G (p.Glu1316Gly) | |
1 | g.197088428T>G | CA343998824 | ASPM | n.3276A>C c.9989A>C (p.Glu3330Ala) c.10211A>C (p.Glu3404Ala) c.9965A>C (p.Glu3322Ala) c.5234A>C (p.Glu1745Ala) c.2984A>C (p.Glu995Ala) c.3947A>C (p.Glu1316Ala) | |
1 | g.197088429C>A | CA343998826 | ASPM | n.3275G>T c.9988G>T (p.Glu3330Ter) c.10210G>T (p.Glu3404Ter) c.9964G>T (p.Glu3322Ter) c.5233G>T (p.Glu1745Ter) c.2983G>T (p.Glu995Ter) c.3946G>T (p.Glu1316Ter) | |
1 | g.197088429C>G | CA343998827 | ASPM | n.3275G>C c.9988G>C (p.Glu3330Gln) c.10210G>C (p.Glu3404Gln) c.9964G>C (p.Glu3322Gln) c.5233G>C (p.Glu1745Gln) c.2983G>C (p.Glu995Gln) c.3946G>C (p.Glu1316Gln) | |
1 | g.197088429C>T | CA343998828 | ASPM | n.3275G>A c.9988G>A (p.Glu3330Lys) c.10210G>A (p.Glu3404Lys) c.9964G>A (p.Glu3322Lys) c.5233G>A (p.Glu1745Lys) c.2983G>A (p.Glu995Lys) c.3946G>A (p.Glu1316Lys) | gnomAD v4 |
1 | g.197088430A= | CA1217923616 | ASPM | n.3274T= c.9987T= (p.Tyr3329=) c.10209T= (p.Tyr3403=) c.9963T= (p.Tyr3321=) c.5232T= (p.Tyr1744=) c.2982T= (p.Tyr994=) c.3945T= (p.Tyr1315=) | |
1 | g.197088430A>C | CA343998829 | ASPM | n.3274T>G c.9987T>G (p.Tyr3329Ter) c.10209T>G (p.Tyr3403Ter) c.9963T>G (p.Tyr3321Ter) c.5232T>G (p.Tyr1744Ter) c.2982T>G (p.Tyr994Ter) c.3945T>G (p.Tyr1315Ter) | |
1 | g.197088430A>G | CA422672246 | ASPM | n.3274T>C c.9987T>C (p.Tyr3329=) c.10209T>C (p.Tyr3403=) c.9963T>C (p.Tyr3321=) c.5232T>C (p.Tyr1744=) c.2982T>C (p.Tyr994=) c.3945T>C (p.Tyr1315=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197088430A>T | CA343998831 | ASPM | n.3274T>A c.9987T>A (p.Tyr3329Ter) c.10209T>A (p.Tyr3403Ter) c.9963T>A (p.Tyr3321Ter) c.5232T>A (p.Tyr1744Ter) c.2982T>A (p.Tyr994Ter) c.3945T>A (p.Tyr1315Ter) | |
1 | g.197088431T>A | CA343998843 | ASPM | n.3273A>T c.9986A>T (p.Tyr3329Phe) c.10208A>T (p.Tyr3403Phe) c.9962A>T (p.Tyr3321Phe) c.5231A>T (p.Tyr1744Phe) c.2981A>T (p.Tyr994Phe) c.3944A>T (p.Tyr1315Phe) | |
1 | g.197088431T>C | CA343998846 | ASPM | n.3273A>G c.9986A>G (p.Tyr3329Cys) c.10208A>G (p.Tyr3403Cys) c.9962A>G (p.Tyr3321Cys) c.5231A>G (p.Tyr1744Cys) c.2981A>G (p.Tyr994Cys) c.3944A>G (p.Tyr1315Cys) | gnomAD v4 |
1 | g.197088431T>G | CA343998841 | ASPM | n.3273A>C c.9986A>C (p.Tyr3329Ser) c.10208A>C (p.Tyr3403Ser) c.9962A>C (p.Tyr3321Ser) c.5231A>C (p.Tyr1744Ser) c.2981A>C (p.Tyr994Ser) c.3944A>C (p.Tyr1315Ser) |