| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197093034C>A | CA1308993 | ASPM | n.2581+18G>T c.9294+18G>T (n.9294+18G>T) c.9516+18G>T (n.9516+18G>T) c.4539+18G>T (n.4539+18G>T) c.2289+18G>T (n.2289+18G>T) c.3252+18G>T (n.3252+18G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093034C= | CA1144151842 | ASPM | n.2581+18G= c.9294+18G= (n.9294+18G=) c.9516+18G= (n.9516+18G=) c.4539+18G= (n.4539+18G=) c.2289+18G= (n.2289+18G=) c.3252+18G= (n.3252+18G=) | |
| 1 | g.197093034C>T | CA1308992 | ASPM | n.2581+18G>A c.9294+18G>A (n.9294+18G>A) c.9516+18G>A (n.9516+18G>A) c.4539+18G>A (n.4539+18G>A) c.2289+18G>A (n.2289+18G>A) c.3252+18G>A (n.3252+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093036A>G | CA2573130618 | ASPM | n.2581+16T>C c.9294+16T>C (n.9294+16T>C) c.9516+16T>C (n.9516+16T>C) c.4539+16T>C (n.4539+16T>C) c.2289+16T>C (n.2289+16T>C) c.3252+16T>C (n.3252+16T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197093036A>T | CA2649661159 | ASPM | n.2581+16T>A c.9294+16T>A (n.9294+16T>A) c.9516+16T>A (n.9516+16T>A) c.4539+16T>A (n.4539+16T>A) c.2289+16T>A (n.2289+16T>A) c.3252+16T>A (n.3252+16T>A) | gnomAD v4 |
| 1 | g.197093037C= | CA1217926659 | ASPM | n.2581+15G= c.9294+15G= (n.9294+15G=) c.9516+15G= (n.9516+15G=) c.4539+15G= (n.4539+15G=) c.2289+15G= (n.2289+15G=) c.3252+15G= (n.3252+15G=) | |
| 1 | g.197093037C>T | CA729744697 | ASPM | n.2581+15G>A c.9294+15G>A (n.9294+15G>A) c.9516+15G>A (n.9516+15G>A) c.4539+15G>A (n.4539+15G>A) c.2289+15G>A (n.2289+15G>A) c.3252+15G>A (n.3252+15G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093039T>C | CA1217926661 | ASPM | n.2581+13A>G c.9294+13A>G (n.9294+13A>G) c.9516+13A>G (n.9516+13A>G) c.4539+13A>G (n.4539+13A>G) c.2289+13A>G (n.2289+13A>G) c.3252+13A>G (n.3252+13A>G) | dbSNP gnomAD v4 |
| 1 | g.197093039T>G | CA1217926662 | ASPM | n.2581+13A>C c.9294+13A>C (n.9294+13A>C) c.9516+13A>C (n.9516+13A>C) c.4539+13A>C (n.4539+13A>C) c.2289+13A>C (n.2289+13A>C) c.3252+13A>C (n.3252+13A>C) | dbSNP |
| 1 | g.197093039T= | CA1217926660 | ASPM | n.2581+13A= c.9294+13A= (n.9294+13A=) c.9516+13A= (n.9516+13A=) c.4539+13A= (n.4539+13A=) c.2289+13A= (n.2289+13A=) c.3252+13A= (n.3252+13A=) | |
| 1 | g.197093040G>A | CA2649661161 | ASPM | n.2581+12C>T c.9294+12C>T (n.9294+12C>T) c.9516+12C>T (n.9516+12C>T) c.4539+12C>T (n.4539+12C>T) c.2289+12C>T (n.2289+12C>T) c.3252+12C>T (n.3252+12C>T) | gnomAD v4 |
| 1 | g.197093040G>T | CA2649661160 | ASPM | n.2581+12C>A c.9294+12C>A (n.9294+12C>A) c.9516+12C>A (n.9516+12C>A) c.4539+12C>A (n.4539+12C>A) c.2289+12C>A (n.2289+12C>A) c.3252+12C>A (n.3252+12C>A) | gnomAD v4 |
| 1 | g.197093041A>C | CA2649661162 | ASPM | n.2581+11T>G c.9294+11T>G (n.9294+11T>G) c.9516+11T>G (n.9516+11T>G) c.4539+11T>G (n.4539+11T>G) c.2289+11T>G (n.2289+11T>G) c.3252+11T>G (n.3252+11T>G) | gnomAD v4 |
| 1 | g.197093041A>G | CA2649661163 | ASPM | n.2581+11T>C c.9294+11T>C (n.9294+11T>C) c.9516+11T>C (n.9516+11T>C) c.4539+11T>C (n.4539+11T>C) c.2289+11T>C (n.2289+11T>C) c.3252+11T>C (n.3252+11T>C) | gnomAD v4 |
| 1 | g.197093044A= | CA1143660735 | ASPM | n.2581+8T= c.9294+8T= (n.9294+8T=) c.9516+8T= (n.9516+8T=) c.4539+8T= (n.4539+8T=) c.2289+8T= (n.2289+8T=) c.3252+8T= (n.3252+8T=) | |
| 1 | g.197093044A>T | CA1308995 | ASPM | n.2581+8T>A c.9294+8T>A (n.9294+8T>A) c.9516+8T>A (n.9516+8T>A) c.4539+8T>A (n.4539+8T>A) c.2289+8T>A (n.2289+8T>A) c.3252+8T>A (n.3252+8T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093044_197093048delinsATACT | CA1217926663 | ASPM | n.2581+4_2581+8delinsAGTAT c.9294+4_9294+8delinsAGTAT (n.9294+4_9294+8delinsAGTAT) c.9516+4_9516+8delinsAGTAT (n.9516+4_9516+8delinsAGTAT) c.4539+4_4539+8delinsAGTAT (n.4539+4_4539+8delinsAGTAT) c.2289+4_2289+8delinsAGTAT (n.2289+4_2289+8delinsAGTAT) c.3252+4_3252+8delinsAGTAT (n.3252+4_3252+8delinsAGTAT) | |
| 1 | g.197093045T>C | CA1308996 | ASPM | n.2581+7A>G c.9294+7A>G (n.9294+7A>G) c.9516+7A>G (n.9516+7A>G) c.4539+7A>G (n.4539+7A>G) c.2289+7A>G (n.2289+7A>G) c.3252+7A>G (n.3252+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093045T= | CA1217926664 | ASPM | n.2581+7A= c.9294+7A= (n.9294+7A=) c.9516+7A= (n.9516+7A=) c.4539+7A= (n.4539+7A=) c.2289+7A= (n.2289+7A=) c.3252+7A= (n.3252+7A=) | |
| 1 | g.197093049_197093052del | CA1308994 | ASPM | n.2581+4_2581+7del c.9294+4_9294+7del c.9516+4_9516+7del c.4539+4_4539+7del c.2289+4_2289+7del c.3252+4_3252+7del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093049del | CA2573975166 | ASPM | n.2581+4del c.9294+4del (n.9294+4del) c.9516+4del (n.9516+4del) c.4539+4del (n.4539+4del) c.2289+4del (n.2289+4del) c.3252+4del (n.3252+4del) | |
| 1 | g.197093049T>C | CA1010899414 | ASPM | n.2581+3A>G c.9294+3A>G (n.9294+3A>G) c.9516+3A>G (n.9516+3A>G) c.4539+3A>G (n.4539+3A>G) c.2289+3A>G (n.2289+3A>G) c.3252+3A>G (n.3252+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093049T= | CA1217926665 | ASPM | n.2581+3A= c.9294+3A= (n.9294+3A=) c.9516+3A= (n.9516+3A=) c.4539+3A= (n.4539+3A=) c.2289+3A= (n.2289+3A=) c.3252+3A= (n.3252+3A=) | |
| 1 | g.197093050A= | CA1143356795 | ASPM | n.2581+2T= c.9294+2T= (n.9294+2T=) c.9516+2T= (n.9516+2T=) c.4539+2T= (n.4539+2T=) c.2289+2T= (n.2289+2T=) c.3252+2T= (n.3252+2T=) | |
| 1 | g.197093050A>C | CA344006545 | ASPM | n.2581+2T>G c.9294+2T>G (n.9294+2T>G) c.9516+2T>G (n.9516+2T>G) c.4539+2T>G (n.4539+2T>G) c.2289+2T>G (n.2289+2T>G) c.3252+2T>G (n.3252+2T>G) | |
| 1 | g.197093050A>G | CA1308997 | ASPM | n.2581+2T>C c.9294+2T>C (n.9294+2T>C) c.9516+2T>C (n.9516+2T>C) c.4539+2T>C (n.4539+2T>C) c.2289+2T>C (n.2289+2T>C) c.3252+2T>C (n.3252+2T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093050A>T | CA344006551 | ASPM | n.2581+2T>A c.9294+2T>A (n.9294+2T>A) c.9516+2T>A (n.9516+2T>A) c.4539+2T>A (n.4539+2T>A) c.2289+2T>A (n.2289+2T>A) c.3252+2T>A (n.3252+2T>A) | |
| 1 | g.197093051del | CA2649661164 | ASPM | n.2581+1del c.9294+1del (n.9294+1del) c.9516+1del (n.9516+1del) c.4539+1del (n.4539+1del) c.2289+1del (n.2289+1del) c.3252+1del (n.3252+1del) | gnomAD v4 |
| 1 | g.197093051C>A | CA344006555 | ASPM | n.2581+1G>T c.9294+1G>T (n.9294+1G>T) c.9516+1G>T (n.9516+1G>T) c.4539+1G>T (n.4539+1G>T) c.2289+1G>T (n.2289+1G>T) c.3252+1G>T (n.3252+1G>T) | gnomAD v4 |
| 1 | g.197093051C= | CA1217926666 | ASPM | n.2581+1G= c.9294+1G= (n.9294+1G=) c.9516+1G= (n.9516+1G=) c.4539+1G= (n.4539+1G=) c.2289+1G= (n.2289+1G=) c.3252+1G= (n.3252+1G=) | |
| 1 | g.197093051C>G | CA344006559 | ASPM | n.2581+1G>C c.9294+1G>C (n.9294+1G>C) c.9516+1G>C (n.9516+1G>C) c.4539+1G>C (n.4539+1G>C) c.2289+1G>C (n.2289+1G>C) c.3252+1G>C (n.3252+1G>C) | dbSNP |
| 1 | g.197093051C>T | CA344006560 | ASPM | n.2581+1G>A c.9294+1G>A (n.9294+1G>A) c.9516+1G>A (n.9516+1G>A) c.4539+1G>A (n.4539+1G>A) c.2289+1G>A (n.2289+1G>A) c.3252+1G>A (n.3252+1G>A) | dbSNP gnomAD v4 |
| 1 | g.197093053_197093054del | CA2649661165 | ASPM | n.2581_2581+1del c.9294_9294+1del c.9516_9516+1del c.4539_4539+1del c.2289_2289+1del c.3252_3252+1del | gnomAD v4 |
| 1 | g.197093052T>A | CA344006570 | ASPM | n.2581A>T c.9294A>T (p.Arg3098Ser) c.9516A>T (p.Arg3172Ser) c.4539A>T (p.Arg1513Ser) c.2289A>T (p.Arg763Ser) c.3252A>T (p.Arg1084Ser) | |
| 1 | g.197093052T>C | CA422672699 | ASPM | n.2581A>G c.9294A>G (p.Arg3098=) c.9516A>G (p.Arg3172=) c.4539A>G (p.Arg1513=) c.2289A>G (p.Arg763=) c.3252A>G (p.Arg1084=) | gnomAD v4 |
| 1 | g.197093052T>G | CA344006577 | ASPM | n.2581A>C c.9294A>C (p.Arg3098Ser) c.9516A>C (p.Arg3172Ser) c.4539A>C (p.Arg1513Ser) c.2289A>C (p.Arg763Ser) c.3252A>C (p.Arg1084Ser) | |
| 1 | g.197093053C>A | CA344006578 | ASPM | n.2580G>T c.9293G>T (p.Arg3098Ile) c.9515G>T (p.Arg3172Ile) c.4538G>T (p.Arg1513Ile) c.2288G>T (p.Arg763Ile) c.3251G>T (p.Arg1084Ile) | |
| 1 | g.197093053C>G | CA344006580 | ASPM | n.2580G>C c.9293G>C (p.Arg3098Thr) c.9515G>C (p.Arg3172Thr) c.4538G>C (p.Arg1513Thr) c.2288G>C (p.Arg763Thr) c.3251G>C (p.Arg1084Thr) | |
| 1 | g.197093053C>T | CA344006581 | ASPM | n.2580G>A c.9293G>A (p.Arg3098Lys) c.9515G>A (p.Arg3172Lys) c.4538G>A (p.Arg1513Lys) c.2288G>A (p.Arg763Lys) c.3251G>A (p.Arg1084Lys) | |
| 1 | g.197093054T>A | CA344006582 | ASPM | n.2579A>T c.9292A>T (p.Arg3098Ter) c.9514A>T (p.Arg3172Ter) c.4537A>T (p.Arg1513Ter) c.2287A>T (p.Arg763Ter) c.3250A>T (p.Arg1084Ter) | |
| 1 | g.197093054T>C | CA344006583 | ASPM | n.2579A>G c.9292A>G (p.Arg3098Gly) c.9514A>G (p.Arg3172Gly) c.4537A>G (p.Arg1513Gly) c.2287A>G (p.Arg763Gly) c.3250A>G (p.Arg1084Gly) | |
| 1 | g.197093054T>G | CA422672706 | ASPM | n.2579A>C c.9292A>C (p.Arg3098=) c.9514A>C (p.Arg3172=) c.4537A>C (p.Arg1513=) c.2287A>C (p.Arg763=) c.3250A>C (p.Arg1084=) | |
| 1 | g.197093055T>A | CA344006585 | ASPM | n.2578A>T c.9291A>T (p.Lys3097Asn) c.9513A>T (p.Lys3171Asn) c.4536A>T (p.Lys1512Asn) c.2286A>T (p.Lys762Asn) c.3249A>T (p.Lys1083Asn) | |
| 1 | g.197093055T>C | CA422672710 | ASPM | n.2578A>G c.9291A>G (p.Lys3097=) c.9513A>G (p.Lys3171=) c.4536A>G (p.Lys1512=) c.2286A>G (p.Lys762=) c.3249A>G (p.Lys1083=) | |
| 1 | g.197093055T>G | CA344006584 | ASPM | n.2578A>C c.9291A>C (p.Lys3097Asn) c.9513A>C (p.Lys3171Asn) c.4536A>C (p.Lys1512Asn) c.2286A>C (p.Lys762Asn) c.3249A>C (p.Lys1083Asn) | |
| 1 | g.197093056T>A | CA344006586 | ASPM | n.2577A>T c.9290A>T (p.Lys3097Ile) c.9512A>T (p.Lys3171Ile) c.4535A>T (p.Lys1512Ile) c.2285A>T (p.Lys762Ile) c.3248A>T (p.Lys1083Ile) | |
| 1 | g.197093056T>C | CA344006588 | ASPM | n.2577A>G c.9290A>G (p.Lys3097Arg) c.9512A>G (p.Lys3171Arg) c.4535A>G (p.Lys1512Arg) c.2285A>G (p.Lys762Arg) c.3248A>G (p.Lys1083Arg) | |
| 1 | g.197093056T>G | CA344006589 | ASPM | n.2577A>C c.9290A>C (p.Lys3097Thr) c.9512A>C (p.Lys3171Thr) c.4535A>C (p.Lys1512Thr) c.2285A>C (p.Lys762Thr) c.3248A>C (p.Lys1083Thr) | gnomAD v4 |
| 1 | g.197093057T>A | CA344006592 | ASPM | n.2576A>T c.9289A>T (p.Lys3097Ter) c.9511A>T (p.Lys3171Ter) c.4534A>T (p.Lys1512Ter) c.2284A>T (p.Lys762Ter) c.3247A>T (p.Lys1083Ter) | |
| 1 | g.197093057T>C | CA344006595 | ASPM | n.2576A>G c.9289A>G (p.Lys3097Glu) c.9511A>G (p.Lys3171Glu) c.4534A>G (p.Lys1512Glu) c.2284A>G (p.Lys762Glu) c.3247A>G (p.Lys1083Glu) | |
| 1 | g.197093057T>G | CA344006598 | ASPM | n.2576A>C c.9289A>C (p.Lys3097Gln) c.9511A>C (p.Lys3171Gln) c.4534A>C (p.Lys1512Gln) c.2284A>C (p.Lys762Gln) c.3247A>C (p.Lys1083Gln) | |
| 1 | g.197093058T>A | CA422672720 | ASPM | n.2575A>T c.9288A>T (p.Arg3096=) c.9510A>T (p.Arg3170=) c.4533A>T (p.Arg1511=) c.2283A>T (p.Arg761=) c.3246A>T (p.Arg1082=) | |
| 1 | g.197093058T>C | CA422672722 | ASPM | n.2575A>G c.9288A>G (p.Arg3096=) c.9510A>G (p.Arg3170=) c.4533A>G (p.Arg1511=) c.2283A>G (p.Arg761=) c.3246A>G (p.Arg1082=) | |
| 1 | g.197093058T>G | CA422672723 | ASPM | n.2575A>C c.9288A>C (p.Arg3096=) c.9510A>C (p.Arg3170=) c.4533A>C (p.Arg1511=) c.2283A>C (p.Arg761=) c.3246A>C (p.Arg1082=) | |
| 1 | g.197093059C>A | CA344006606 | ASPM | n.2574G>T c.9287G>T (p.Arg3096Leu) c.9509G>T (p.Arg3170Leu) c.4532G>T (p.Arg1511Leu) c.2282G>T (p.Arg761Leu) c.3245G>T (p.Arg1082Leu) | |
| 1 | g.197093059C= | CA1142116455 | ASPM | n.2574G= c.9287G= (p.Arg3096=) c.9509G= (p.Arg3170=) c.4532G= (p.Arg1511=) c.2282G= (p.Arg761=) c.3245G= (p.Arg1082=) | |
| 1 | g.197093059C>G | CA344006604 | ASPM | n.2574G>C c.9287G>C (p.Arg3096Pro) c.9509G>C (p.Arg3170Pro) c.4532G>C (p.Arg1511Pro) c.2282G>C (p.Arg761Pro) c.3245G>C (p.Arg1082Pro) | |
| 1 | g.197093059C>T | CA1308998 | ASPM | n.2574G>A c.9287G>A (p.Arg3096Gln) c.9509G>A (p.Arg3170Gln) c.4532G>A (p.Arg1511Gln) c.2282G>A (p.Arg761Gln) c.3245G>A (p.Arg1082Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093060G>A | CA344006610 | ASPM | n.2573C>T c.9286C>T (p.Arg3096Ter) c.9508C>T (p.Arg3170Ter) c.4531C>T (p.Arg1511Ter) c.2281C>T (p.Arg761Ter) c.3244C>T (p.Arg1082Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197093060G>C | CA344006613 | ASPM | n.2573C>G c.9286C>G (p.Arg3096Gly) c.9508C>G (p.Arg3170Gly) c.4531C>G (p.Arg1511Gly) c.2281C>G (p.Arg761Gly) c.3244C>G (p.Arg1082Gly) | |
| 1 | g.197093060G= | CA1217926667 | ASPM | n.2573C= c.9286C= (p.Arg3096=) c.9508C= (p.Arg3170=) c.4531C= (p.Arg1511=) c.2281C= (p.Arg761=) c.3244C= (p.Arg1082=) | |
| 1 | g.197093060G>T | CA1308999 | ASPM | n.2573C>A c.9286C>A (p.Arg3096=) c.9508C>A (p.Arg3170=) c.4531C>A (p.Arg1511=) c.2281C>A (p.Arg761=) c.3244C>A (p.Arg1082=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093061T>A | CA422672732 | ASPM | n.2572A>T c.9285A>T (p.Val3095=) c.9507A>T (p.Val3169=) c.4530A>T (p.Val1510=) c.2280A>T (p.Val760=) c.3243A>T (p.Val1081=) | |
| 1 | g.197093061T>C | CA422672736 | ASPM | n.2572A>G c.9285A>G (p.Val3095=) c.9507A>G (p.Val3169=) c.4530A>G (p.Val1510=) c.2280A>G (p.Val760=) c.3243A>G (p.Val1081=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093061T>G | CA422672734 | ASPM | n.2572A>C c.9285A>C (p.Val3095=) c.9507A>C (p.Val3169=) c.4530A>C (p.Val1510=) c.2280A>C (p.Val760=) c.3243A>C (p.Val1081=) | |
| 1 | g.197093061T= | CA1217926668 | ASPM | n.2572A= c.9285A= (p.Val3095=) c.9507A= (p.Val3169=) c.4530A= (p.Val1510=) c.2280A= (p.Val760=) c.3243A= (p.Val1081=) | |
| 1 | g.197093062A>C | CA344006622 | ASPM | n.2571T>G c.9284T>G (p.Val3095Gly) c.9506T>G (p.Val3169Gly) c.4529T>G (p.Val1510Gly) c.2279T>G (p.Val760Gly) c.3242T>G (p.Val1081Gly) | |
| 1 | g.197093062A>G | CA344006624 | ASPM | n.2571T>C c.9284T>C (p.Val3095Ala) c.9506T>C (p.Val3169Ala) c.4529T>C (p.Val1510Ala) c.2279T>C (p.Val760Ala) c.3242T>C (p.Val1081Ala) | |
| 1 | g.197093062A>T | CA344006626 | ASPM | n.2571T>A c.9284T>A (p.Val3095Glu) c.9506T>A (p.Val3169Glu) c.4529T>A (p.Val1510Glu) c.2279T>A (p.Val760Glu) c.3242T>A (p.Val1081Glu) | |
| 1 | g.197093063C>A | CA344006630 | ASPM | n.2570G>T c.9283G>T (p.Val3095Leu) c.9505G>T (p.Val3169Leu) c.4528G>T (p.Val1510Leu) c.2278G>T (p.Val760Leu) c.3241G>T (p.Val1081Leu) | gnomAD v4 |
| 1 | g.197093063C= | CA1217926669 | ASPM | n.2570G= c.9283G= (p.Val3095=) c.9505G= (p.Val3169=) c.4528G= (p.Val1510=) c.2278G= (p.Val760=) c.3241G= (p.Val1081=) | |
| 1 | g.197093063C>G | CA344006636 | ASPM | n.2570G>C c.9283G>C (p.Val3095Leu) c.9505G>C (p.Val3169Leu) c.4528G>C (p.Val1510Leu) c.2278G>C (p.Val760Leu) c.3241G>C (p.Val1081Leu) | |
| 1 | g.197093063C>T | CA344006633 | ASPM | n.2570G>A c.9283G>A (p.Val3095Ile) c.9505G>A (p.Val3169Ile) c.4528G>A (p.Val1510Ile) c.2278G>A (p.Val760Ile) c.3241G>A (p.Val1081Ile) | dbSNP |
| 1 | g.197093064T>A | CA422672744 | ASPM | n.2569A>T c.9282A>T (p.Leu3094=) c.9504A>T (p.Leu3168=) c.4527A>T (p.Leu1509=) c.2277A>T (p.Leu759=) c.3240A>T (p.Leu1080=) | gnomAD v4 |
| 1 | g.197093064T>C | CA422672746 | ASPM | n.2569A>G c.9282A>G (p.Leu3094=) c.9504A>G (p.Leu3168=) c.4527A>G (p.Leu1509=) c.2277A>G (p.Leu759=) c.3240A>G (p.Leu1080=) | gnomAD v4 |
| 1 | g.197093064T>G | CA422672748 | ASPM | n.2569A>C c.9282A>C (p.Leu3094=) c.9504A>C (p.Leu3168=) c.4527A>C (p.Leu1509=) c.2277A>C (p.Leu759=) c.3240A>C (p.Leu1080=) | |
| 1 | g.197093065A= | CA1217926670 | ASPM | n.2568T= c.9281T= (p.Leu3094=) c.9503T= (p.Leu3168=) c.4526T= (p.Leu1509=) c.2276T= (p.Leu759=) c.3239T= (p.Leu1080=) | |
| 1 | g.197093065A>C | CA344006640 | ASPM | n.2568T>G c.9281T>G (p.Leu3094Arg) c.9503T>G (p.Leu3168Arg) c.4526T>G (p.Leu1509Arg) c.2276T>G (p.Leu759Arg) c.3239T>G (p.Leu1080Arg) | |
| 1 | g.197093065A>G | CA344006650 | ASPM | n.2568T>C c.9281T>C (p.Leu3094Pro) c.9503T>C (p.Leu3168Pro) c.4526T>C (p.Leu1509Pro) c.2276T>C (p.Leu759Pro) c.3239T>C (p.Leu1080Pro) | |
| 1 | g.197093065A>T | CA344006653 | ASPM | n.2568T>A c.9281T>A (p.Leu3094Gln) c.9503T>A (p.Leu3168Gln) c.4526T>A (p.Leu1509Gln) c.2276T>A (p.Leu759Gln) c.3239T>A (p.Leu1080Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093066G>A | CA422672758 | ASPM | n.2567C>T c.9280C>T (p.Leu3094=) c.9502C>T (p.Leu3168=) c.4525C>T (p.Leu1509=) c.2275C>T (p.Leu759=) c.3238C>T (p.Leu1080=) | |
| 1 | g.197093066G>C | CA344006657 | ASPM | n.2567C>G c.9280C>G (p.Leu3094Val) c.9502C>G (p.Leu3168Val) c.4525C>G (p.Leu1509Val) c.2275C>G (p.Leu759Val) c.3238C>G (p.Leu1080Val) | |
| 1 | g.197093066G>T | CA344006659 | ASPM | n.2567C>A c.9280C>A (p.Leu3094Ile) c.9502C>A (p.Leu3168Ile) c.4525C>A (p.Leu1509Ile) c.2275C>A (p.Leu759Ile) c.3238C>A (p.Leu1080Ile) | |
| 1 | g.197093067C>A | CA344006664 | ASPM | n.2566G>T c.9279G>T (p.Trp3093Cys) c.9501G>T (p.Trp3167Cys) c.4524G>T (p.Trp1508Cys) c.2274G>T (p.Trp758Cys) c.3237G>T (p.Trp1079Cys) | |
| 1 | g.197093067C= | CA1217926671 | ASPM | n.2566G= c.9279G= (p.Trp3093=) c.9501G= (p.Trp3167=) c.4524G= (p.Trp1508=) c.2274G= (p.Trp758=) c.3237G= (p.Trp1079=) | |
| 1 | g.197093067C>G | CA344006667 | ASPM | n.2566G>C c.9279G>C (p.Trp3093Cys) c.9501G>C (p.Trp3167Cys) c.4524G>C (p.Trp1508Cys) c.2274G>C (p.Trp758Cys) c.3237G>C (p.Trp1079Cys) | |
| 1 | g.197093067C>T | CA344006670 | ASPM | n.2566G>A c.9279G>A (p.Trp3093Ter) c.9501G>A (p.Trp3167Ter) c.4524G>A (p.Trp1508Ter) c.2274G>A (p.Trp758Ter) c.3237G>A (p.Trp1079Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093068C>A | CA344006675 | ASPM | n.2565G>T c.9278G>T (p.Trp3093Leu) c.9500G>T (p.Trp3167Leu) c.4523G>T (p.Trp1508Leu) c.2273G>T (p.Trp758Leu) c.3236G>T (p.Trp1079Leu) | |
| 1 | g.197093068C>G | CA344006685 | ASPM | n.2565G>C c.9278G>C (p.Trp3093Ser) c.9500G>C (p.Trp3167Ser) c.4523G>C (p.Trp1508Ser) c.2273G>C (p.Trp758Ser) c.3236G>C (p.Trp1079Ser) | |
| 1 | g.197093068C>T | CA344006689 | ASPM | n.2565G>A c.9278G>A (p.Trp3093Ter) c.9500G>A (p.Trp3167Ter) c.4523G>A (p.Trp1508Ter) c.2273G>A (p.Trp758Ter) c.3236G>A (p.Trp1079Ter) | |
| 1 | g.197093068_197093069delinsCA | CA1217926672 | ASPM | n.2564_2565delinsTG c.9277_9278delinsTG (p.Trp3093=) c.9499_9500delinsTG (p.Trp3167=) c.4522_4523delinsTG (p.Trp1508=) c.2272_2273delinsTG (p.Trp758=) c.3235_3236delinsTG (p.Trp1079=) | |
| 1 | g.197093069A>C | CA344006693 | ASPM | n.2564T>G c.9277T>G (p.Trp3093Gly) c.9499T>G (p.Trp3167Gly) c.4522T>G (p.Trp1508Gly) c.2272T>G (p.Trp758Gly) c.3235T>G (p.Trp1079Gly) | |
| 1 | g.197093069A>G | CA344006697 | ASPM | n.2564T>C c.9277T>C (p.Trp3093Arg) c.9499T>C (p.Trp3167Arg) c.4522T>C (p.Trp1508Arg) c.2272T>C (p.Trp758Arg) c.3235T>C (p.Trp1079Arg) | |
| 1 | g.197093069A>T | CA344006695 | ASPM | n.2564T>A c.9277T>A (p.Trp3093Arg) c.9499T>A (p.Trp3167Arg) c.4522T>A (p.Trp1508Arg) c.2272T>A (p.Trp758Arg) c.3235T>A (p.Trp1079Arg) | |
| 1 | g.197093070del | CA1217926673 | ASPM | n.2564del c.9277del (p.Trp3093GlyfsTer2) c.9499del (p.Trp3167GlyfsTer2) c.4522del (p.Trp1508GlyfsTer2) c.2272del (p.Trp758GlyfsTer2) c.3235del (p.Trp1079GlyfsTer2) | dbSNP |
| 1 | g.197093070A= | CA1142408220 | ASPM | n.2563T= c.9276T= (p.Gly3092=) c.9498T= (p.Gly3166=) c.4521T= (p.Gly1507=) c.2271T= (p.Gly757=) c.3234T= (p.Gly1078=) | |
| 1 | g.197093070A>C | CA422672769 | ASPM | n.2563T>G c.9276T>G (p.Gly3092=) c.9498T>G (p.Gly3166=) c.4521T>G (p.Gly1507=) c.2271T>G (p.Gly757=) c.3234T>G (p.Gly1078=) | |
| 1 | g.197093070A>G | CA171275 | ASPM | n.2563T>C c.9276T>C (p.Gly3092=) c.9498T>C (p.Gly3166=) c.4521T>C (p.Gly1507=) c.2271T>C (p.Gly757=) c.3234T>C (p.Gly1078=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093070A>T | CA422672772 | ASPM | n.2563T>A c.9276T>A (p.Gly3092=) c.9498T>A (p.Gly3166=) c.4521T>A (p.Gly1507=) c.2271T>A (p.Gly757=) c.3234T>A (p.Gly1078=) | |
| 1 | g.197093071C>A | CA344006711 | ASPM | n.2562G>T c.9275G>T (p.Gly3092Val) c.9497G>T (p.Gly3166Val) c.4520G>T (p.Gly1507Val) c.2270G>T (p.Gly757Val) c.3233G>T (p.Gly1078Val) | |
| 1 | g.197093071C= | CA1217926674 | ASPM | n.2562G= c.9275G= (p.Gly3092=) c.9497G= (p.Gly3166=) c.4520G= (p.Gly1507=) c.2270G= (p.Gly757=) c.3233G= (p.Gly1078=) | |
| 1 | g.197093071C>G | CA344006705 | ASPM | n.2562G>C c.9275G>C (p.Gly3092Ala) c.9497G>C (p.Gly3166Ala) c.4520G>C (p.Gly1507Ala) c.2270G>C (p.Gly757Ala) c.3233G>C (p.Gly1078Ala) | |
| 1 | g.197093071C>T | CA344006707 | ASPM | n.2562G>A c.9275G>A (p.Gly3092Asp) c.9497G>A (p.Gly3166Asp) c.4520G>A (p.Gly1507Asp) c.2270G>A (p.Gly757Asp) c.3233G>A (p.Gly1078Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093072C>A | CA344006716 | ASPM | n.2561G>T c.9274G>T (p.Gly3092Cys) c.9496G>T (p.Gly3166Cys) c.4519G>T (p.Gly1507Cys) c.2269G>T (p.Gly757Cys) c.3232G>T (p.Gly1078Cys) | |
| 1 | g.197093072C= | CA1217926675 | ASPM | n.2561G= c.9274G= (p.Gly3092=) c.9496G= (p.Gly3166=) c.4519G= (p.Gly1507=) c.2269G= (p.Gly757=) c.3232G= (p.Gly1078=) | |
| 1 | g.197093072C>G | CA344006718 | ASPM | n.2561G>C c.9274G>C (p.Gly3092Arg) c.9496G>C (p.Gly3166Arg) c.4519G>C (p.Gly1507Arg) c.2269G>C (p.Gly757Arg) c.3232G>C (p.Gly1078Arg) | |
| 1 | g.197093072C>T | CA1309000 | ASPM | n.2561G>A c.9274G>A (p.Gly3092Ser) c.9496G>A (p.Gly3166Ser) c.4519G>A (p.Gly1507Ser) c.2269G>A (p.Gly757Ser) c.3232G>A (p.Gly1078Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093073A>C | CA422672781 | ASPM | n.2560T>G c.9273T>G (p.Arg3091=) c.9495T>G (p.Arg3165=) c.4518T>G (p.Arg1506=) c.2268T>G (p.Arg756=) c.3231T>G (p.Arg1077=) | |
| 1 | g.197093073A>G | CA422672783 | ASPM | n.2560T>C c.9273T>C (p.Arg3091=) c.9495T>C (p.Arg3165=) c.4518T>C (p.Arg1506=) c.2268T>C (p.Arg756=) c.3231T>C (p.Arg1077=) | |
| 1 | g.197093073A>T | CA422672785 | ASPM | n.2560T>A c.9273T>A (p.Arg3091=) c.9495T>A (p.Arg3165=) c.4518T>A (p.Arg1506=) c.2268T>A (p.Arg756=) c.3231T>A (p.Arg1077=) | |
| 1 | g.197093074C>A | CA344006723 | ASPM | n.2559G>T c.9272G>T (p.Arg3091Leu) c.9494G>T (p.Arg3165Leu) c.4517G>T (p.Arg1506Leu) c.2267G>T (p.Arg756Leu) c.3230G>T (p.Arg1077Leu) | |
| 1 | g.197093074C= | CA1142151025 | ASPM | n.2559G= c.9272G= (p.Arg3091=) c.9494G= (p.Arg3165=) c.4517G= (p.Arg1506=) c.2267G= (p.Arg756=) c.3230G= (p.Arg1077=) | |
| 1 | g.197093074C>G | CA344006725 | ASPM | n.2559G>C c.9272G>C (p.Arg3091Pro) c.9494G>C (p.Arg3165Pro) c.4517G>C (p.Arg1506Pro) c.2267G>C (p.Arg756Pro) c.3230G>C (p.Arg1077Pro) | |
| 1 | g.197093074C>T | CA1309001 | ASPM | n.2559G>A c.9272G>A (p.Arg3091His) c.9494G>A (p.Arg3165His) c.4517G>A (p.Arg1506His) c.2267G>A (p.Arg756His) c.3230G>A (p.Arg1077His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093075G>A | CA1309002 | ASPM | n.2558C>T c.9271C>T (p.Arg3091Cys) c.9493C>T (p.Arg3165Cys) c.4516C>T (p.Arg1506Cys) c.2266C>T (p.Arg756Cys) c.3229C>T (p.Arg1077Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093075G>C | CA344006731 | ASPM | n.2558C>G c.9271C>G (p.Arg3091Gly) c.9493C>G (p.Arg3165Gly) c.4516C>G (p.Arg1506Gly) c.2266C>G (p.Arg756Gly) c.3229C>G (p.Arg1077Gly) | |
| 1 | g.197093075G= | CA1217926676 | ASPM | n.2558C= c.9271C= (p.Arg3091=) c.9493C= (p.Arg3165=) c.4516C= (p.Arg1506=) c.2266C= (p.Arg756=) c.3229C= (p.Arg1077=) | |
| 1 | g.197093075G>T | CA344006734 | ASPM | n.2558C>A c.9271C>A (p.Arg3091Ser) c.9493C>A (p.Arg3165Ser) c.4516C>A (p.Arg1506Ser) c.2266C>A (p.Arg756Ser) c.3229C>A (p.Arg1077Ser) | |
| 1 | g.197093076C>A | CA422672794 | ASPM | n.2557G>T c.9270G>T (p.Val3090=) c.9492G>T (p.Val3164=) c.4515G>T (p.Val1505=) c.2265G>T (p.Val755=) c.3228G>T (p.Val1076=) | |
| 1 | g.197093076C= | CA1217926677 | ASPM | n.2557G= c.9270G= (p.Val3090=) c.9492G= (p.Val3164=) c.4515G= (p.Val1505=) c.2265G= (p.Val755=) c.3228G= (p.Val1076=) | |
| 1 | g.197093076C>G | CA422672795 | ASPM | n.2557G>C c.9270G>C (p.Val3090=) c.9492G>C (p.Val3164=) c.4515G>C (p.Val1505=) c.2265G>C (p.Val755=) c.3228G>C (p.Val1076=) | ClinVar dbSNP |
| 1 | g.197093076C>T | CA422672796 | ASPM | n.2557G>A c.9270G>A (p.Val3090=) c.9492G>A (p.Val3164=) c.4515G>A (p.Val1505=) c.2265G>A (p.Val755=) c.3228G>A (p.Val1076=) | gnomAD v4 |
| 1 | g.197093077A>C | CA344006744 | ASPM | n.2556T>G c.9269T>G (p.Val3090Gly) c.9491T>G (p.Val3164Gly) c.4514T>G (p.Val1505Gly) c.2264T>G (p.Val755Gly) c.3227T>G (p.Val1076Gly) | |
| 1 | g.197093077A>G | CA344006739 | ASPM | n.2556T>C c.9269T>C (p.Val3090Ala) c.9491T>C (p.Val3164Ala) c.4514T>C (p.Val1505Ala) c.2264T>C (p.Val755Ala) c.3227T>C (p.Val1076Ala) | |
| 1 | g.197093077A>T | CA344006741 | ASPM | n.2556T>A c.9269T>A (p.Val3090Glu) c.9491T>A (p.Val3164Glu) c.4514T>A (p.Val1505Glu) c.2264T>A (p.Val755Glu) c.3227T>A (p.Val1076Glu) | |
| 1 | g.197093078C>A | CA1309003 | ASPM | n.2555G>T c.9268G>T (p.Val3090Leu) c.9490G>T (p.Val3164Leu) c.4513G>T (p.Val1505Leu) c.2263G>T (p.Val755Leu) c.3226G>T (p.Val1076Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093078C= | CA1144193310 | ASPM | n.2555G= c.9268G= (p.Val3090=) c.9490G= (p.Val3164=) c.4513G= (p.Val1505=) c.2263G= (p.Val755=) c.3226G= (p.Val1076=) | |
| 1 | g.197093078C>G | CA344006748 | ASPM | n.2555G>C c.9268G>C (p.Val3090Leu) c.9490G>C (p.Val3164Leu) c.4513G>C (p.Val1505Leu) c.2263G>C (p.Val755Leu) c.3226G>C (p.Val1076Leu) | |
| 1 | g.197093078C>T | CA344006760 | ASPM | n.2555G>A c.9268G>A (p.Val3090Met) c.9490G>A (p.Val3164Met) c.4513G>A (p.Val1505Met) c.2263G>A (p.Val755Met) c.3226G>A (p.Val1076Met) | |
| 1 | g.197093079C>A | CA422672802 | ASPM | n.2554G>T c.9267G>T (p.Leu3089=) c.9489G>T (p.Leu3163=) c.4512G>T (p.Leu1504=) c.2262G>T (p.Leu754=) c.3225G>T (p.Leu1075=) | |
| 1 | g.197093079C= | CA1217926678 | ASPM | n.2554G= c.9267G= (p.Leu3089=) c.9489G= (p.Leu3163=) c.4512G= (p.Leu1504=) c.2262G= (p.Leu754=) c.3225G= (p.Leu1075=) | |
| 1 | g.197093079C>G | CA422672805 | ASPM | n.2554G>C c.9267G>C (p.Leu3089=) c.9489G>C (p.Leu3163=) c.4512G>C (p.Leu1504=) c.2262G>C (p.Leu754=) c.3225G>C (p.Leu1075=) | |
| 1 | g.197093079C>T | CA422672808 | ASPM | n.2554G>A c.9267G>A (p.Leu3089=) c.9489G>A (p.Leu3163=) c.4512G>A (p.Leu1504=) c.2262G>A (p.Leu754=) c.3225G>A (p.Leu1075=) | dbSNP gnomAD v2 |
| 1 | g.197093080A>C | CA344006763 | ASPM | n.2553T>G c.9266T>G (p.Leu3089Arg) c.9488T>G (p.Leu3163Arg) c.4511T>G (p.Leu1504Arg) c.2261T>G (p.Leu754Arg) c.3224T>G (p.Leu1075Arg) | |
| 1 | g.197093080A>G | CA344006765 | ASPM | n.2553T>C c.9266T>C (p.Leu3089Pro) c.9488T>C (p.Leu3163Pro) c.4511T>C (p.Leu1504Pro) c.2261T>C (p.Leu754Pro) c.3224T>C (p.Leu1075Pro) | |
| 1 | g.197093080A>T | CA344006767 | ASPM | n.2553T>A c.9266T>A (p.Leu3089Gln) c.9488T>A (p.Leu3163Gln) c.4511T>A (p.Leu1504Gln) c.2261T>A (p.Leu754Gln) c.3224T>A (p.Leu1075Gln) | |
| 1 | g.197093081G>A | CA422672810 | ASPM | n.2552C>T c.9265C>T (p.Leu3089=) c.9487C>T (p.Leu3163=) c.4510C>T (p.Leu1504=) c.2260C>T (p.Leu754=) c.3223C>T (p.Leu1075=) | |
| 1 | g.197093081G>C | CA344006769 | ASPM | n.2552C>G c.9265C>G (p.Leu3089Val) c.9487C>G (p.Leu3163Val) c.4510C>G (p.Leu1504Val) c.2260C>G (p.Leu754Val) c.3223C>G (p.Leu1075Val) | |
| 1 | g.197093081G>T | CA344006771 | ASPM | n.2552C>A c.9265C>A (p.Leu3089Met) c.9487C>A (p.Leu3163Met) c.4510C>A (p.Leu1504Met) c.2260C>A (p.Leu754Met) c.3223C>A (p.Leu1075Met) | |
| 1 | g.197093082T>A | CA422672817 | ASPM | n.2551A>T c.9264A>T (p.Ala3088=) c.9486A>T (p.Ala3162=) c.4509A>T (p.Ala1503=) c.2259A>T (p.Ala753=) c.3222A>T (p.Ala1074=) | |
| 1 | g.197093082T>C | CA422672815 | ASPM | n.2551A>G c.9264A>G (p.Ala3088=) c.9486A>G (p.Ala3162=) c.4509A>G (p.Ala1503=) c.2259A>G (p.Ala753=) c.3222A>G (p.Ala1074=) | |
| 1 | g.197093082T>G | CA422672814 | ASPM | n.2551A>C c.9264A>C (p.Ala3088=) c.9486A>C (p.Ala3162=) c.4509A>C (p.Ala1503=) c.2259A>C (p.Ala753=) c.3222A>C (p.Ala1074=) | |
| 1 | g.197093083del | CA2649661166 | ASPM | n.2550del c.9263del (p.Ala3088AspfsTer7) c.9485del (p.Ala3162AspfsTer7) c.4508del (p.Ala1503AspfsTer7) c.2258del (p.Ala753AspfsTer7) c.3221del (p.Ala1074AspfsTer7) | gnomAD v4 |
| 1 | g.197093083G>A | CA344006774 | ASPM | n.2550C>T c.9263C>T (p.Ala3088Val) c.9485C>T (p.Ala3162Val) c.4508C>T (p.Ala1503Val) c.2258C>T (p.Ala753Val) c.3221C>T (p.Ala1074Val) | gnomAD v4 |
| 1 | g.197093083G>C | CA344006776 | ASPM | n.2550C>G c.9263C>G (p.Ala3088Gly) c.9485C>G (p.Ala3162Gly) c.4508C>G (p.Ala1503Gly) c.2258C>G (p.Ala753Gly) c.3221C>G (p.Ala1074Gly) | |
| 1 | g.197093083G>T | CA344006778 | ASPM | n.2550C>A c.9263C>A (p.Ala3088Glu) c.9485C>A (p.Ala3162Glu) c.4508C>A (p.Ala1503Glu) c.2258C>A (p.Ala753Glu) c.3221C>A (p.Ala1074Glu) | |
| 1 | g.197093084del | CA2739275491 | ASPM | n.2549del c.9262del (p.Ala3088HisfsTer7) c.9484del (p.Ala3162HisfsTer7) c.4507del (p.Ala1503HisfsTer7) c.2257del (p.Ala753HisfsTer7) c.3220del (p.Ala1074HisfsTer7) | ClinVar |
| 1 | g.197093084C>A | CA344006782 | ASPM | n.2549G>T c.9262G>T (p.Ala3088Ser) c.9484G>T (p.Ala3162Ser) c.4507G>T (p.Ala1503Ser) c.2257G>T (p.Ala753Ser) c.3220G>T (p.Ala1074Ser) | |
| 1 | g.197093084C>G | CA344006783 | ASPM | n.2549G>C c.9262G>C (p.Ala3088Pro) c.9484G>C (p.Ala3162Pro) c.4507G>C (p.Ala1503Pro) c.2257G>C (p.Ala753Pro) c.3220G>C (p.Ala1074Pro) | |
| 1 | g.197093084C>T | CA344006781 | ASPM | n.2549G>A c.9262G>A (p.Ala3088Thr) c.9484G>A (p.Ala3162Thr) c.4507G>A (p.Ala1503Thr) c.2257G>A (p.Ala753Thr) c.3220G>A (p.Ala1074Thr) | COSMIC |
| 1 | g.197093085T>A | CA344006784 | ASPM | n.2548A>T c.9261A>T (p.Gln3087His) c.9483A>T (p.Gln3161His) c.4506A>T (p.Gln1502His) c.2256A>T (p.Gln752His) c.3219A>T (p.Gln1073His) | |
| 1 | g.197093085T>C | CA422672823 | ASPM | n.2548A>G c.9261A>G (p.Gln3087=) c.9483A>G (p.Gln3161=) c.4506A>G (p.Gln1502=) c.2256A>G (p.Gln752=) c.3219A>G (p.Gln1073=) | |
| 1 | g.197093085T>G | CA344006785 | ASPM | n.2548A>C c.9261A>C (p.Gln3087His) c.9483A>C (p.Gln3161His) c.4506A>C (p.Gln1502His) c.2256A>C (p.Gln752His) c.3219A>C (p.Gln1073His) | |
| 1 | g.197093086T>A | CA344006786 | ASPM | n.2547A>T c.9260A>T (p.Gln3087Leu) c.9482A>T (p.Gln3161Leu) c.4505A>T (p.Gln1502Leu) c.2255A>T (p.Gln752Leu) c.3218A>T (p.Gln1073Leu) | |
| 1 | g.197093086T>C | CA344006787 | ASPM | n.2547A>G c.9260A>G (p.Gln3087Arg) c.9482A>G (p.Gln3161Arg) c.4505A>G (p.Gln1502Arg) c.2255A>G (p.Gln752Arg) c.3218A>G (p.Gln1073Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093086T>G | CA1309004 | ASPM | n.2547A>C c.9260A>C (p.Gln3087Pro) c.9482A>C (p.Gln3161Pro) c.4505A>C (p.Gln1502Pro) c.2255A>C (p.Gln752Pro) c.3218A>C (p.Gln1073Pro) | dbSNP ExAC gnomAD v4 |
| 1 | g.197093086T= | CA1217926679 | ASPM | n.2547A= c.9260A= (p.Gln3087=) c.9482A= (p.Gln3161=) c.4505A= (p.Gln1502=) c.2255A= (p.Gln752=) c.3218A= (p.Gln1073=) | |
| 1 | g.197093087G>A | CA344006789 | ASPM | n.2546C>T c.9259C>T (p.Gln3087Ter) c.9481C>T (p.Gln3161Ter) c.4504C>T (p.Gln1502Ter) c.2254C>T (p.Gln752Ter) c.3217C>T (p.Gln1073Ter) | |
| 1 | g.197093087G>C | CA344006788 | ASPM | n.2546C>G c.9259C>G (p.Gln3087Glu) c.9481C>G (p.Gln3161Glu) c.4504C>G (p.Gln1502Glu) c.2254C>G (p.Gln752Glu) c.3217C>G (p.Gln1073Glu) | |
| 1 | g.197093087G= | CA1145293243 | ASPM | n.2546C= c.9259C= (p.Gln3087=) c.9481C= (p.Gln3161=) c.4504C= (p.Gln1502=) c.2254C= (p.Gln752=) c.3217C= (p.Gln1073=) | |
| 1 | g.197093087G>T | CA35863366 | ASPM | n.2546C>A c.9259C>A (p.Gln3087Lys) c.9481C>A (p.Gln3161Lys) c.4504C>A (p.Gln1502Lys) c.2254C>A (p.Gln752Lys) c.3217C>A (p.Gln1073Lys) | dbSNP gnomAD v4 |
| 1 | g.197093088T>A | CA422672833 | ASPM | n.2545A>T c.9258A>T (p.Leu3086=) c.9480A>T (p.Leu3160=) c.4503A>T (p.Leu1501=) c.2253A>T (p.Leu751=) c.3216A>T (p.Leu1072=) | |
| 1 | g.197093088T>C | CA422672837 | ASPM | n.2545A>G c.9258A>G (p.Leu3086=) c.9480A>G (p.Leu3160=) c.4503A>G (p.Leu1501=) c.2253A>G (p.Leu751=) c.3216A>G (p.Leu1072=) | |
| 1 | g.197093088T>G | CA422672835 | ASPM | n.2545A>C c.9258A>C (p.Leu3086=) c.9480A>C (p.Leu3160=) c.4503A>C (p.Leu1501=) c.2253A>C (p.Leu751=) c.3216A>C (p.Leu1072=) | |
| 1 | g.197093089A= | CA1217926680 | ASPM | n.2544T= c.9257T= (p.Leu3086=) c.9479T= (p.Leu3160=) c.4502T= (p.Leu1501=) c.2252T= (p.Leu751=) c.3215T= (p.Leu1072=) | |
| 1 | g.197093089A>C | CA344006790 | ASPM | n.2544T>G c.9257T>G (p.Leu3086Arg) c.9479T>G (p.Leu3160Arg) c.4502T>G (p.Leu1501Arg) c.2252T>G (p.Leu751Arg) c.3215T>G (p.Leu1072Arg) | |
| 1 | g.197093089A>G | CA344006791 | ASPM | n.2544T>C c.9257T>C (p.Leu3086Pro) c.9479T>C (p.Leu3160Pro) c.4502T>C (p.Leu1501Pro) c.2252T>C (p.Leu751Pro) c.3215T>C (p.Leu1072Pro) | dbSNP gnomAD v2 |
| 1 | g.197093089A>T | CA344006792 | ASPM | n.2544T>A c.9257T>A (p.Leu3086Gln) c.9479T>A (p.Leu3160Gln) c.4502T>A (p.Leu1501Gln) c.2252T>A (p.Leu751Gln) c.3215T>A (p.Leu1072Gln) | |
| 1 | g.197093090G>A | CA422672843 | ASPM | n.2543C>T c.9256C>T (p.Leu3086=) c.9478C>T (p.Leu3160=) c.4501C>T (p.Leu1501=) c.2251C>T (p.Leu751=) c.3214C>T (p.Leu1072=) | |
| 1 | g.197093090G>C | CA344006793 | ASPM | n.2543C>G c.9256C>G (p.Leu3086Val) c.9478C>G (p.Leu3160Val) c.4501C>G (p.Leu1501Val) c.2251C>G (p.Leu751Val) c.3214C>G (p.Leu1072Val) | |
| 1 | g.197093090G>T | CA344006794 | ASPM | n.2543C>A c.9256C>A (p.Leu3086Ile) c.9478C>A (p.Leu3160Ile) c.4501C>A (p.Leu1501Ile) c.2251C>A (p.Leu751Ile) c.3214C>A (p.Leu1072Ile) | |
| 1 | g.197093091del | CA2573975228 | ASPM | n.2543del c.9256del (p.Leu3086TyrfsTer9) c.9478del (p.Leu3160TyrfsTer9) c.4501del (p.Leu1501TyrfsTer9) c.2251del (p.Leu751TyrfsTer9) c.3214del (p.Leu1072TyrfsTer9) | |
| 1 | g.197093091G>A | CA422672847 | ASPM | n.2542C>T c.9255C>T (p.Ile3085=) c.9477C>T (p.Ile3159=) c.4500C>T (p.Ile1500=) c.2250C>T (p.Ile750=) c.3213C>T (p.Ile1071=) | dbSNP gnomAD v2 |
| 1 | g.197093091G>C | CA344006795 | ASPM | n.2542C>G c.9255C>G (p.Ile3085Met) c.9477C>G (p.Ile3159Met) c.4500C>G (p.Ile1500Met) c.2250C>G (p.Ile750Met) c.3213C>G (p.Ile1071Met) | |
| 1 | g.197093091G= | CA1217926681 | ASPM | n.2542C= c.9255C= (p.Ile3085=) c.9477C= (p.Ile3159=) c.4500C= (p.Ile1500=) c.2250C= (p.Ile750=) c.3213C= (p.Ile1071=) | |
| 1 | g.197093091G>T | CA422672850 | ASPM | n.2542C>A c.9255C>A (p.Ile3085=) c.9477C>A (p.Ile3159=) c.4500C>A (p.Ile1500=) c.2250C>A (p.Ile750=) c.3213C>A (p.Ile1071=) | |
| 1 | g.197093092A= | CA1141599101 | ASPM | n.2541T= c.9254T= (p.Ile3085=) c.9476T= (p.Ile3159=) c.4499T= (p.Ile1500=) c.2249T= (p.Ile750=) c.3212T= (p.Ile1071=) | |
| 1 | g.197093092A>C | CA344006796 | ASPM | n.2541T>G c.9254T>G (p.Ile3085Ser) c.9476T>G (p.Ile3159Ser) c.4499T>G (p.Ile1500Ser) c.2249T>G (p.Ile750Ser) c.3212T>G (p.Ile1071Ser) | |
| 1 | g.197093092A>G | CA171273 | ASPM | n.2541T>C c.9254T>C (p.Ile3085Thr) c.9476T>C (p.Ile3159Thr) c.4499T>C (p.Ile1500Thr) c.2249T>C (p.Ile750Thr) c.3212T>C (p.Ile1071Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093092A>T | CA344006797 | ASPM | n.2541T>A c.9254T>A (p.Ile3085Asn) c.9476T>A (p.Ile3159Asn) c.4499T>A (p.Ile1500Asn) c.2249T>A (p.Ile750Asn) c.3212T>A (p.Ile1071Asn) | |
| 1 | g.197093093T>A | CA344006798 | ASPM | n.2540A>T c.9253A>T (p.Ile3085Phe) c.9475A>T (p.Ile3159Phe) c.4498A>T (p.Ile1500Phe) c.2248A>T (p.Ile750Phe) c.3211A>T (p.Ile1071Phe) | |
| 1 | g.197093093T>C | CA344006799 | ASPM | n.2540A>G c.9253A>G (p.Ile3085Val) c.9475A>G (p.Ile3159Val) c.4498A>G (p.Ile1500Val) c.2248A>G (p.Ile750Val) c.3211A>G (p.Ile1071Val) | gnomAD v4 |
| 1 | g.197093093T>G | CA344006800 | ASPM | n.2540A>C c.9253A>C (p.Ile3085Leu) c.9475A>C (p.Ile3159Leu) c.4498A>C (p.Ile1500Leu) c.2248A>C (p.Ile750Leu) c.3211A>C (p.Ile1071Leu) | |
| 1 | g.197093094A>C | CA422672858 | ASPM | n.2539T>G c.9252T>G (p.Val3084=) c.9474T>G (p.Val3158=) c.4497T>G (p.Val1499=) c.2247T>G (p.Val749=) c.3210T>G (p.Val1070=) | |
| 1 | g.197093094A>G | CA422672860 | ASPM | n.2539T>C c.9252T>C (p.Val3084=) c.9474T>C (p.Val3158=) c.4497T>C (p.Val1499=) c.2247T>C (p.Val749=) c.3210T>C (p.Val1070=) | |
| 1 | g.197093094A>T | CA422672863 | ASPM | n.2539T>A c.9252T>A (p.Val3084=) c.9474T>A (p.Val3158=) c.4497T>A (p.Val1499=) c.2247T>A (p.Val749=) c.3210T>A (p.Val1070=) | ClinVar |
| 1 | g.197093095A>C | CA344006801 | ASPM | n.2538T>G c.9251T>G (p.Val3084Gly) c.9473T>G (p.Val3158Gly) c.4496T>G (p.Val1499Gly) c.2246T>G (p.Val749Gly) c.3209T>G (p.Val1070Gly) | |
| 1 | g.197093095A>G | CA344006802 | ASPM | n.2538T>C c.9251T>C (p.Val3084Ala) c.9473T>C (p.Val3158Ala) c.4496T>C (p.Val1499Ala) c.2246T>C (p.Val749Ala) c.3209T>C (p.Val1070Ala) | |
| 1 | g.197093095A>T | CA344006803 | ASPM | n.2538T>A c.9251T>A (p.Val3084Asp) c.9473T>A (p.Val3158Asp) c.4496T>A (p.Val1499Asp) c.2246T>A (p.Val749Asp) c.3209T>A (p.Val1070Asp) | |
| 1 | g.197093096C>A | CA344006804 | ASPM | n.2537G>T c.9250G>T (p.Val3084Phe) c.9472G>T (p.Val3158Phe) c.4495G>T (p.Val1499Phe) c.2245G>T (p.Val749Phe) c.3208G>T (p.Val1070Phe) | |
| 1 | g.197093096C= | CA1141659807 | ASPM | n.2537G= c.9250G= (p.Val3084=) c.9472G= (p.Val3158=) c.4495G= (p.Val1499=) c.2245G= (p.Val749=) c.3208G= (p.Val1070=) | |
| 1 | g.197093096C>G | CA344006805 | ASPM | n.2537G>C c.9250G>C (p.Val3084Leu) c.9472G>C (p.Val3158Leu) c.4495G>C (p.Val1499Leu) c.2245G>C (p.Val749Leu) c.3208G>C (p.Val1070Leu) | |
| 1 | g.197093096C>T | CA1309005 | ASPM | n.2537G>A c.9250G>A (p.Val3084Ile) c.9472G>A (p.Val3158Ile) c.4495G>A (p.Val1499Ile) c.2245G>A (p.Val749Ile) c.3208G>A (p.Val1070Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093097T>A | CA422672871 | ASPM | n.2536A>T c.9249A>T (p.Thr3083=) c.9471A>T (p.Thr3157=) c.4494A>T (p.Thr1498=) c.2244A>T (p.Thr748=) c.3207A>T (p.Thr1069=) | |
| 1 | g.197093097T>C | CA422672873 | ASPM | n.2536A>G c.9249A>G (p.Thr3083=) c.9471A>G (p.Thr3157=) c.4494A>G (p.Thr1498=) c.2244A>G (p.Thr748=) c.3207A>G (p.Thr1069=) | |
| 1 | g.197093097T>G | CA422672874 | ASPM | n.2536A>C c.9249A>C (p.Thr3083=) c.9471A>C (p.Thr3157=) c.4494A>C (p.Thr1498=) c.2244A>C (p.Thr748=) c.3207A>C (p.Thr1069=) | |
| 1 | g.197093098G>A | CA344006806 | ASPM | n.2535C>T c.9248C>T (p.Thr3083Ile) c.9470C>T (p.Thr3157Ile) c.4493C>T (p.Thr1498Ile) c.2243C>T (p.Thr748Ile) c.3206C>T (p.Thr1069Ile) | gnomAD v4 |
| 1 | g.197093098G>C | CA344006807 | ASPM | n.2535C>G c.9248C>G (p.Thr3083Arg) c.9470C>G (p.Thr3157Arg) c.4493C>G (p.Thr1498Arg) c.2243C>G (p.Thr748Arg) c.3206C>G (p.Thr1069Arg) | |
| 1 | g.197093098G>T | CA344006808 | ASPM | n.2535C>A c.9248C>A (p.Thr3083Lys) c.9470C>A (p.Thr3157Lys) c.4493C>A (p.Thr1498Lys) c.2243C>A (p.Thr748Lys) c.3206C>A (p.Thr1069Lys) | |
| 1 | g.197093099T>A | CA344006814 | ASPM | n.2534A>T c.9247A>T (p.Thr3083Ser) c.9469A>T (p.Thr3157Ser) c.4492A>T (p.Thr1498Ser) c.2242A>T (p.Thr748Ser) c.3205A>T (p.Thr1069Ser) | |
| 1 | g.197093099T>C | CA344006816 | ASPM | n.2534A>G c.9247A>G (p.Thr3083Ala) c.9469A>G (p.Thr3157Ala) c.4492A>G (p.Thr1498Ala) c.2242A>G (p.Thr748Ala) c.3205A>G (p.Thr1069Ala) | dbSNP |
| 1 | g.197093099T>G | CA344006812 | ASPM | n.2534A>C c.9247A>C (p.Thr3083Pro) c.9469A>C (p.Thr3157Pro) c.4492A>C (p.Thr1498Pro) c.2242A>C (p.Thr748Pro) c.3205A>C (p.Thr1069Pro) | |
| 1 | g.197093099T= | CA1217926682 | ASPM | n.2534A= c.9247A= (p.Thr3083=) c.9469A= (p.Thr3157=) c.4492A= (p.Thr1498=) c.2242A= (p.Thr748=) c.3205A= (p.Thr1069=) | |
| 1 | g.197093100A= | CA1143457821 | ASPM | n.2533T= c.9246T= (p.Ser3082=) c.9468T= (p.Ser3156=) c.4491T= (p.Ser1497=) c.2241T= (p.Ser747=) c.3204T= (p.Ser1068=) | |
| 1 | g.197093100A>C | CA422672883 | ASPM | n.2533T>G c.9246T>G (p.Ser3082=) c.9468T>G (p.Ser3156=) c.4491T>G (p.Ser1497=) c.2241T>G (p.Ser747=) c.3204T>G (p.Ser1068=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>G | CA1309006 | ASPM | n.2533T>C c.9246T>C (p.Ser3082=) c.9468T>C (p.Ser3156=) c.4491T>C (p.Ser1497=) c.2241T>C (p.Ser747=) c.3204T>C (p.Ser1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093100A>T | CA422672886 | ASPM | n.2533T>A c.9246T>A (p.Ser3082=) c.9468T>A (p.Ser3156=) c.4491T>A (p.Ser1497=) c.2241T>A (p.Ser747=) c.3204T>A (p.Ser1068=) | |
| 1 | g.197093100dup | CA645534325 | ASPM | n.2533dup c.9246dup (p.Thr3083TyrfsTer?) c.9468dup (p.Thr3157TyrfsTer?) c.4491dup (p.Thr1498TyrfsTer?) c.2241dup (p.Thr748TyrfsTer?) c.3204dup (p.Thr1069TyrfsTer?) | COSMIC |
| 1 | g.197093101G>A | CA344006823 | ASPM | n.2532C>T c.9245C>T (p.Ser3082Phe) c.9467C>T (p.Ser3156Phe) c.4490C>T (p.Ser1497Phe) c.2240C>T (p.Ser747Phe) c.3203C>T (p.Ser1068Phe) | |
| 1 | g.197093101G>C | CA344006828 | ASPM | n.2532C>G c.9245C>G (p.Ser3082Cys) c.9467C>G (p.Ser3156Cys) c.4490C>G (p.Ser1497Cys) c.2240C>G (p.Ser747Cys) c.3203C>G (p.Ser1068Cys) | dbSNP |
| 1 | g.197093101G= | CA1217926683 | ASPM | n.2532C= c.9245C= (p.Ser3082=) c.9467C= (p.Ser3156=) c.4490C= (p.Ser1497=) c.2240C= (p.Ser747=) c.3203C= (p.Ser1068=) | |
| 1 | g.197093101G>T | CA344006825 | ASPM | n.2532C>A c.9245C>A (p.Ser3082Tyr) c.9467C>A (p.Ser3156Tyr) c.4490C>A (p.Ser1497Tyr) c.2240C>A (p.Ser747Tyr) c.3203C>A (p.Ser1068Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197093102A= | CA1217926684 | ASPM | n.2531T= c.9244T= (p.Ser3082=) c.9466T= (p.Ser3156=) c.4489T= (p.Ser1497=) c.2239T= (p.Ser747=) c.3202T= (p.Ser1068=) | |
| 1 | g.197093102A>C | CA344006830 | ASPM | n.2531T>G c.9244T>G (p.Ser3082Ala) c.9466T>G (p.Ser3156Ala) c.4489T>G (p.Ser1497Ala) c.2239T>G (p.Ser747Ala) c.3202T>G (p.Ser1068Ala) | |
| 1 | g.197093102A>G | CA344006832 | ASPM | n.2531T>C c.9244T>C (p.Ser3082Pro) c.9466T>C (p.Ser3156Pro) c.4489T>C (p.Ser1497Pro) c.2239T>C (p.Ser747Pro) c.3202T>C (p.Ser1068Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197093102A>T | CA344006835 | ASPM | n.2531T>A c.9244T>A (p.Ser3082Thr) c.9466T>A (p.Ser3156Thr) c.4489T>A (p.Ser1497Thr) c.2239T>A (p.Ser747Thr) c.3202T>A (p.Ser1068Thr) | |
| 1 | g.197093103T>A | CA344006839 | ASPM | n.2530A>T c.9243A>T (p.Lys3081Asn) c.9465A>T (p.Lys3155Asn) c.4488A>T (p.Lys1496Asn) c.2238A>T (p.Lys746Asn) c.3201A>T (p.Lys1067Asn) | |
| 1 | g.197093103T>C | CA422672901 | ASPM | n.2530A>G c.9243A>G (p.Lys3081=) c.9465A>G (p.Lys3155=) c.4488A>G (p.Lys1496=) c.2238A>G (p.Lys746=) c.3201A>G (p.Lys1067=) | |
| 1 | g.197093103T>G | CA344006841 | ASPM | n.2530A>C c.9243A>C (p.Lys3081Asn) c.9465A>C (p.Lys3155Asn) c.4488A>C (p.Lys1496Asn) c.2238A>C (p.Lys746Asn) c.3201A>C (p.Lys1067Asn) | |
| 1 | g.197093103_197093108delinsTTTTTT | CA1149118332 | ASPM | n.2525_2530delinsAAAAAA c.9238_9243delinsAAAAAA (p.Lys3080=) c.9460_9465delinsAAAAAA (p.Lys3154=) c.4483_4488delinsAAAAAA (p.Lys1495=) c.2233_2238delinsAAAAAA (p.Lys745=) c.3196_3201delinsAAAAAA (p.Lys1066=) | |
| 1 | g.197093108dup | CA1309007 | ASPM | n.2530dup c.9243dup (p.Ser3082IlefsTer?) c.9465dup (p.Ser3156IlefsTer?) c.4488dup (p.Ser1497IlefsTer?) c.2238dup (p.Ser747IlefsTer?) c.3201dup (p.Ser1068IlefsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093104T>A | CA344006846 | ASPM | n.2529A>T c.9242A>T (p.Lys3081Ile) c.9464A>T (p.Lys3155Ile) c.4487A>T (p.Lys1496Ile) c.2237A>T (p.Lys746Ile) c.3200A>T (p.Lys1067Ile) | |
| 1 | g.197093104T>C | CA344006848 | ASPM | n.2529A>G c.9242A>G (p.Lys3081Arg) c.9464A>G (p.Lys3155Arg) c.4487A>G (p.Lys1496Arg) c.2237A>G (p.Lys746Arg) c.3200A>G (p.Lys1067Arg) | |
| 1 | g.197093104T>G | CA344006850 | ASPM | n.2529A>C c.9242A>C (p.Lys3081Thr) c.9464A>C (p.Lys3155Thr) c.4487A>C (p.Lys1496Thr) c.2237A>C (p.Lys746Thr) c.3200A>C (p.Lys1067Thr) | |
| 1 | g.197093105T>A | CA344006854 | ASPM | n.2528A>T c.9241A>T (p.Lys3081Ter) c.9463A>T (p.Lys3155Ter) c.4486A>T (p.Lys1496Ter) c.2236A>T (p.Lys746Ter) c.3199A>T (p.Lys1067Ter) | |
| 1 | g.197093105T>C | CA344006856 | ASPM | n.2528A>G c.9241A>G (p.Lys3081Glu) c.9463A>G (p.Lys3155Glu) c.4486A>G (p.Lys1496Glu) c.2236A>G (p.Lys746Glu) c.3199A>G (p.Lys1067Glu) | |
| 1 | g.197093105T>G | CA344006859 | ASPM | n.2528A>C c.9241A>C (p.Lys3081Gln) c.9463A>C (p.Lys3155Gln) c.4486A>C (p.Lys1496Gln) c.2236A>C (p.Lys746Gln) c.3199A>C (p.Lys1067Gln) | |
| 1 | g.197093106T>A | CA344006862 | ASPM | n.2527A>T c.9240A>T (p.Lys3080Asn) c.9462A>T (p.Lys3154Asn) c.4485A>T (p.Lys1495Asn) c.2235A>T (p.Lys745Asn) c.3198A>T (p.Lys1066Asn) | COSMIC |
| 1 | g.197093106T>C | CA422672911 | ASPM | n.2527A>G c.9240A>G (p.Lys3080=) c.9462A>G (p.Lys3154=) c.4485A>G (p.Lys1495=) c.2235A>G (p.Lys745=) c.3198A>G (p.Lys1066=) | |
| 1 | g.197093106T>G | CA344006864 | ASPM | n.2527A>C c.9240A>C (p.Lys3080Asn) c.9462A>C (p.Lys3154Asn) c.4485A>C (p.Lys1495Asn) c.2235A>C (p.Lys745Asn) c.3198A>C (p.Lys1066Asn) | |
| 1 | g.197093107T>A | CA344006866 | ASPM | n.2526A>T c.9239A>T (p.Lys3080Ile) c.9461A>T (p.Lys3154Ile) c.4484A>T (p.Lys1495Ile) c.2234A>T (p.Lys745Ile) c.3197A>T (p.Lys1066Ile) | |
| 1 | g.197093107T>C | CA344006867 | ASPM | n.2526A>G c.9239A>G (p.Lys3080Arg) c.9461A>G (p.Lys3154Arg) c.4484A>G (p.Lys1495Arg) c.2234A>G (p.Lys745Arg) c.3197A>G (p.Lys1066Arg) | gnomAD v4 |
| 1 | g.197093107T>G | CA344006868 | ASPM | n.2526A>C c.9239A>C (p.Lys3080Thr) c.9461A>C (p.Lys3154Thr) c.4484A>C (p.Lys1495Thr) c.2234A>C (p.Lys745Thr) c.3197A>C (p.Lys1066Thr) | gnomAD v4 |
| 1 | g.197093108T>A | CA342291 | ASPM | n.2525A>T c.9238A>T (p.Lys3080Ter) c.9460A>T (p.Lys3154Ter) c.4483A>T (p.Lys1495Ter) c.2233A>T (p.Lys745Ter) c.3196A>T (p.Lys1066Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093108T>C | CA344006869 | ASPM | n.2525A>G c.9238A>G (p.Lys3080Glu) c.9460A>G (p.Lys3154Glu) c.4483A>G (p.Lys1495Glu) c.2233A>G (p.Lys745Glu) c.3196A>G (p.Lys1066Glu) | dbSNP |
| 1 | g.197093108T>G | CA344006870 | ASPM | n.2525A>C c.9238A>C (p.Lys3080Gln) c.9460A>C (p.Lys3154Gln) c.4483A>C (p.Lys1495Gln) c.2233A>C (p.Lys745Gln) c.3196A>C (p.Lys1066Gln) | |
| 1 | g.197093108T= | CA1143355793 | ASPM | n.2525A= c.9238A= (p.Lys3080=) c.9460A= (p.Lys3154=) c.4483A= (p.Lys1495=) c.2233A= (p.Lys745=) c.3196A= (p.Lys1066=) | |
| 1 | g.197093109A= | CA1144872943 | ASPM | n.2524T= c.9237T= (p.Phe3079=) c.9459T= (p.Phe3153=) c.4482T= (p.Phe1494=) c.2232T= (p.Phe744=) c.3195T= (p.Phe1065=) | |
| 1 | g.197093109A>C | CA344006871 | ASPM | n.2524T>G c.9237T>G (p.Phe3079Leu) c.9459T>G (p.Phe3153Leu) c.4482T>G (p.Phe1494Leu) c.2232T>G (p.Phe744Leu) c.3195T>G (p.Phe1065Leu) | |
| 1 | g.197093109A>G | CA422672922 | ASPM | n.2524T>C c.9237T>C (p.Phe3079=) c.9459T>C (p.Phe3153=) c.4482T>C (p.Phe1494=) c.2232T>C (p.Phe744=) c.3195T>C (p.Phe1065=) | |
| 1 | g.197093109A>T | CA35863391 | ASPM | n.2524T>A c.9237T>A (p.Phe3079Leu) c.9459T>A (p.Phe3153Leu) c.4482T>A (p.Phe1494Leu) c.2232T>A (p.Phe744Leu) c.3195T>A (p.Phe1065Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197093110A>C | CA344006872 | ASPM | n.2523T>G c.9236T>G (p.Phe3079Cys) c.9458T>G (p.Phe3153Cys) c.4481T>G (p.Phe1494Cys) c.2231T>G (p.Phe744Cys) c.3194T>G (p.Phe1065Cys) | |
| 1 | g.197093110A>G | CA344006873 | ASPM | n.2523T>C c.9236T>C (p.Phe3079Ser) c.9458T>C (p.Phe3153Ser) c.4481T>C (p.Phe1494Ser) c.2231T>C (p.Phe744Ser) c.3194T>C (p.Phe1065Ser) | |
| 1 | g.197093110A>T | CA344006874 | ASPM | n.2523T>A c.9236T>A (p.Phe3079Tyr) c.9458T>A (p.Phe3153Tyr) c.4481T>A (p.Phe1494Tyr) c.2231T>A (p.Phe744Tyr) c.3194T>A (p.Phe1065Tyr) | |
| 1 | g.197093111A= | CA1217926685 | ASPM | n.2522T= c.9235T= (p.Phe3079=) c.9457T= (p.Phe3153=) c.4480T= (p.Phe1494=) c.2230T= (p.Phe744=) c.3193T= (p.Phe1065=) | |
| 1 | g.197093111A>C | CA344006877 | ASPM | n.2522T>G c.9235T>G (p.Phe3079Val) c.9457T>G (p.Phe3153Val) c.4480T>G (p.Phe1494Val) c.2230T>G (p.Phe744Val) c.3193T>G (p.Phe1065Val) | dbSNP |
| 1 | g.197093111A>G | CA344006878 | ASPM | n.2522T>C c.9235T>C (p.Phe3079Leu) c.9457T>C (p.Phe3153Leu) c.4480T>C (p.Phe1494Leu) c.2230T>C (p.Phe744Leu) c.3193T>C (p.Phe1065Leu) | gnomAD v4 |
| 1 | g.197093111A>T | CA344006875 | ASPM | n.2522T>A c.9235T>A (p.Phe3079Ile) c.9457T>A (p.Phe3153Ile) c.4480T>A (p.Phe1494Ile) c.2230T>A (p.Phe744Ile) c.3193T>A (p.Phe1065Ile) | |
| 1 | g.197093112T>A | CA344006879 | ASPM | n.2521A>T c.9234A>T (p.Glu3078Asp) c.9456A>T (p.Glu3152Asp) c.4479A>T (p.Glu1493Asp) c.2229A>T (p.Glu743Asp) c.3192A>T (p.Glu1064Asp) | dbSNP gnomAD v2 |
| 1 | g.197093112T>C | CA422672930 | ASPM | n.2521A>G c.9234A>G (p.Glu3078=) c.9456A>G (p.Glu3152=) c.4479A>G (p.Glu1493=) c.2229A>G (p.Glu743=) c.3192A>G (p.Glu1064=) | |
| 1 | g.197093112T>G | CA344006880 | ASPM | n.2521A>C c.9234A>C (p.Glu3078Asp) c.9456A>C (p.Glu3152Asp) c.4479A>C (p.Glu1493Asp) c.2229A>C (p.Glu743Asp) c.3192A>C (p.Glu1064Asp) | |
| 1 | g.197093112T= | CA1217926686 | ASPM | n.2521A= c.9234A= (p.Glu3078=) c.9456A= (p.Glu3152=) c.4479A= (p.Glu1493=) c.2229A= (p.Glu743=) c.3192A= (p.Glu1064=) | |
| 1 | g.197093113T>A | CA344006883 | ASPM | n.2520A>T c.9233A>T (p.Glu3078Val) c.9455A>T (p.Glu3152Val) c.4478A>T (p.Glu1493Val) c.2228A>T (p.Glu743Val) c.3191A>T (p.Glu1064Val) | |
| 1 | g.197093113T>C | CA344006887 | ASPM | n.2520A>G c.9233A>G (p.Glu3078Gly) c.9455A>G (p.Glu3152Gly) c.4478A>G (p.Glu1493Gly) c.2228A>G (p.Glu743Gly) c.3191A>G (p.Glu1064Gly) | |
| 1 | g.197093113T>G | CA344006889 | ASPM | n.2520A>C c.9233A>C (p.Glu3078Ala) c.9455A>C (p.Glu3152Ala) c.4478A>C (p.Glu1493Ala) c.2228A>C (p.Glu743Ala) c.3191A>C (p.Glu1064Ala) | dbSNP gnomAD v4 |
| 1 | g.197093113T= | CA1217926687 | ASPM | n.2520A= c.9233A= (p.Glu3078=) c.9455A= (p.Glu3152=) c.4478A= (p.Glu1493=) c.2228A= (p.Glu743=) c.3191A= (p.Glu1064=) | |
| 1 | g.197093114C>A | CA344006892 | ASPM | n.2519G>T c.9232G>T (p.Glu3078Ter) c.9454G>T (p.Glu3152Ter) c.4477G>T (p.Glu1493Ter) c.2227G>T (p.Glu743Ter) c.3190G>T (p.Glu1064Ter) | |
| 1 | g.197093114C= | CA1217926688 | ASPM | n.2519G= c.9232G= (p.Glu3078=) c.9454G= (p.Glu3152=) c.4477G= (p.Glu1493=) c.2227G= (p.Glu743=) c.3190G= (p.Glu1064=) | |
| 1 | g.197093114C>G | CA344006894 | ASPM | n.2519G>C c.9232G>C (p.Glu3078Gln) c.9454G>C (p.Glu3152Gln) c.4477G>C (p.Glu1493Gln) c.2227G>C (p.Glu743Gln) c.3190G>C (p.Glu1064Gln) | gnomAD v4 |
| 1 | g.197093114C>T | CA344006896 | ASPM | n.2519G>A c.9232G>A (p.Glu3078Lys) c.9454G>A (p.Glu3152Lys) c.4477G>A (p.Glu1493Lys) c.2227G>A (p.Glu743Lys) c.3190G>A (p.Glu1064Lys) | gnomAD v4 |
| 1 | g.197093115A>C | CA344006899 | ASPM | n.2518T>G c.9231T>G (p.Ile3077Met) c.9453T>G (p.Ile3151Met) c.4476T>G (p.Ile1492Met) c.2226T>G (p.Ile742Met) c.3189T>G (p.Ile1063Met) | |
| 1 | g.197093115A>G | CA422672943 | ASPM | n.2518T>C c.9231T>C (p.Ile3077=) c.9453T>C (p.Ile3151=) c.4476T>C (p.Ile1492=) c.2226T>C (p.Ile742=) c.3189T>C (p.Ile1063=) | |
| 1 | g.197093115A>T | CA422672941 | ASPM | n.2518T>A c.9231T>A (p.Ile3077=) c.9453T>A (p.Ile3151=) c.4476T>A (p.Ile1492=) c.2226T>A (p.Ile742=) c.3189T>A (p.Ile1063=) | |
| 1 | g.197093115_197093116delinsAA | CA1140605170 | ASPM | n.2517_2518delinsTT c.9230_9231delinsTT (p.Ile3077=) c.9452_9453delinsTT (p.Ile3151=) c.4475_4476delinsTT (p.Ile1492=) c.2225_2226delinsTT (p.Ile742=) c.3188_3189delinsTT (p.Ile1063=) | |
| 1 | g.197093116dup | CA35863402 | ASPM | n.2518dup c.9231dup (p.Glu3078Ter) c.9453dup (p.Glu3152Ter) c.4476dup (p.Glu1493Ter) c.2226dup (p.Glu743Ter) c.3189dup (p.Glu1064Ter) | dbSNP |
| 1 | g.197093116A= | CA1140548293 | ASPM | n.2517T= c.9230T= (p.Ile3077=) c.9452T= (p.Ile3151=) c.4475T= (p.Ile1492=) c.2225T= (p.Ile742=) c.3188T= (p.Ile1063=) | |
| 1 | g.197093116A>C | CA344006902 | ASPM | n.2517T>G c.9230T>G (p.Ile3077Ser) c.9452T>G (p.Ile3151Ser) c.4475T>G (p.Ile1492Ser) c.2225T>G (p.Ile742Ser) c.3188T>G (p.Ile1063Ser) | |
| 1 | g.197093116A>G | CA35863406 | ASPM | n.2517T>C c.9230T>C (p.Ile3077Thr) c.9452T>C (p.Ile3151Thr) c.4475T>C (p.Ile1492Thr) c.2225T>C (p.Ile742Thr) c.3188T>C (p.Ile1063Thr) | dbSNP |
| 1 | g.197093116A>T | CA344006905 | ASPM | n.2517T>A c.9230T>A (p.Ile3077Asn) c.9452T>A (p.Ile3151Asn) c.4475T>A (p.Ile1492Asn) c.2225T>A (p.Ile742Asn) c.3188T>A (p.Ile1063Asn) | |
| 1 | g.197093116_197093117insGG | CA2747239625 | ASPM | n.2516_2517insCC c.9229_9230insCC (p.Ile3077ThrfsTer19) c.9451_9452insCC (p.Ile3151ThrfsTer19) c.4474_4475insCC (p.Ile1492ThrfsTer19) c.2224_2225insCC (p.Ile742ThrfsTer19) c.3187_3188insCC (p.Ile1063ThrfsTer19) | |
| 1 | g.197093117T>A | CA344006910 | ASPM | n.2516A>T c.9229A>T (p.Ile3077Phe) c.9451A>T (p.Ile3151Phe) c.4474A>T (p.Ile1492Phe) c.2224A>T (p.Ile742Phe) c.3187A>T (p.Ile1063Phe) | |
| 1 | g.197093117T>C | CA1309008 | ASPM | n.2516A>G c.9229A>G (p.Ile3077Val) c.9451A>G (p.Ile3151Val) c.4474A>G (p.Ile1492Val) c.2224A>G (p.Ile742Val) c.3187A>G (p.Ile1063Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093117T>G | CA344006908 | ASPM | n.2516A>C c.9229A>C (p.Ile3077Leu) c.9451A>C (p.Ile3151Leu) c.4474A>C (p.Ile1492Leu) c.2224A>C (p.Ile742Leu) c.3187A>C (p.Ile1063Leu) | |
| 1 | g.197093117T= | CA1217926689 | ASPM | n.2516A= c.9229A= (p.Ile3077=) c.9451A= (p.Ile3151=) c.4474A= (p.Ile1492=) c.2224A= (p.Ile742=) c.3187A= (p.Ile1063=) | |
| 1 | g.197093118A= | CA1217926690 | ASPM | n.2515T= c.9228T= (p.Tyr3076=) c.9450T= (p.Tyr3150=) c.4473T= (p.Tyr1491=) c.2223T= (p.Tyr741=) c.3186T= (p.Tyr1062=) | |
| 1 | g.197093118A>C | CA344006914 | ASPM | n.2515T>G c.9228T>G (p.Tyr3076Ter) c.9450T>G (p.Tyr3150Ter) c.4473T>G (p.Tyr1491Ter) c.2223T>G (p.Tyr741Ter) c.3186T>G (p.Tyr1062Ter) | |
| 1 | g.197093118A>G | CA1309009 | ASPM | n.2515T>C c.9228T>C (p.Tyr3076=) c.9450T>C (p.Tyr3150=) c.4473T>C (p.Tyr1491=) c.2223T>C (p.Tyr741=) c.3186T>C (p.Tyr1062=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093118A>T | CA344006917 | ASPM | n.2515T>A c.9228T>A (p.Tyr3076Ter) c.9450T>A (p.Tyr3150Ter) c.4473T>A (p.Tyr1491Ter) c.2223T>A (p.Tyr741Ter) c.3186T>A (p.Tyr1062Ter) | |
| 1 | g.197093119T>A | CA344006920 | ASPM | n.2514A>T c.9227A>T (p.Tyr3076Phe) c.9449A>T (p.Tyr3150Phe) c.4472A>T (p.Tyr1491Phe) c.2222A>T (p.Tyr741Phe) c.3185A>T (p.Tyr1062Phe) | |
| 1 | g.197093119T>C | CA344006928 | ASPM | n.2514A>G c.9227A>G (p.Tyr3076Cys) c.9449A>G (p.Tyr3150Cys) c.4472A>G (p.Tyr1491Cys) c.2222A>G (p.Tyr741Cys) c.3185A>G (p.Tyr1062Cys) | gnomAD v4 |
| 1 | g.197093119T>G | CA344006929 | ASPM | n.2514A>C c.9227A>C (p.Tyr3076Ser) c.9449A>C (p.Tyr3150Ser) c.4472A>C (p.Tyr1491Ser) c.2222A>C (p.Tyr741Ser) c.3185A>C (p.Tyr1062Ser) | |
| 1 | g.197093120A>C | CA344006932 | ASPM | n.2513T>G c.9226T>G (p.Tyr3076Asp) c.9448T>G (p.Tyr3150Asp) c.4471T>G (p.Tyr1491Asp) c.2221T>G (p.Tyr741Asp) c.3184T>G (p.Tyr1062Asp) | |
| 1 | g.197093120A>G | CA344006936 | ASPM | n.2513T>C c.9226T>C (p.Tyr3076His) c.9448T>C (p.Tyr3150His) c.4471T>C (p.Tyr1491His) c.2221T>C (p.Tyr741His) c.3184T>C (p.Tyr1062His) | |
| 1 | g.197093120A>T | CA344006934 | ASPM | n.2513T>A c.9226T>A (p.Tyr3076Asn) c.9448T>A (p.Tyr3150Asn) c.4471T>A (p.Tyr1491Asn) c.2221T>A (p.Tyr741Asn) c.3184T>A (p.Tyr1062Asn) | |
| 1 | g.197093121T>A | CA344006939 | ASPM | n.2512A>T c.9225A>T (p.Lys3075Asn) c.9447A>T (p.Lys3149Asn) c.4470A>T (p.Lys1490Asn) c.2220A>T (p.Lys740Asn) c.3183A>T (p.Lys1061Asn) | |
| 1 | g.197093121T>C | CA422672963 | ASPM | n.2512A>G c.9225A>G (p.Lys3075=) c.9447A>G (p.Lys3149=) c.4470A>G (p.Lys1490=) c.2220A>G (p.Lys740=) c.3183A>G (p.Lys1061=) | |
| 1 | g.197093121T>G | CA344006940 | ASPM | n.2512A>C c.9225A>C (p.Lys3075Asn) c.9447A>C (p.Lys3149Asn) c.4470A>C (p.Lys1490Asn) c.2220A>C (p.Lys740Asn) c.3183A>C (p.Lys1061Asn) | |
| 1 | g.197093122T>A | CA344006944 | ASPM | n.2511A>T c.9224A>T (p.Lys3075Ile) c.9446A>T (p.Lys3149Ile) c.4469A>T (p.Lys1490Ile) c.2219A>T (p.Lys740Ile) c.3182A>T (p.Lys1061Ile) | |
| 1 | g.197093122T>C | CA344006946 | ASPM | n.2511A>G c.9224A>G (p.Lys3075Arg) c.9446A>G (p.Lys3149Arg) c.4469A>G (p.Lys1490Arg) c.2219A>G (p.Lys740Arg) c.3182A>G (p.Lys1061Arg) | |
| 1 | g.197093122T>G | CA344006948 | ASPM | n.2511A>C c.9224A>C (p.Lys3075Thr) c.9446A>C (p.Lys3149Thr) c.4469A>C (p.Lys1490Thr) c.2219A>C (p.Lys740Thr) c.3182A>C (p.Lys1061Thr) | |
| 1 | g.197093123T>A | CA344006957 | ASPM | n.2510A>T c.9223A>T (p.Lys3075Ter) c.9445A>T (p.Lys3149Ter) c.4468A>T (p.Lys1490Ter) c.2218A>T (p.Lys740Ter) c.3181A>T (p.Lys1061Ter) | |
| 1 | g.197093123T>C | CA344006955 | ASPM | n.2510A>G c.9223A>G (p.Lys3075Glu) c.9445A>G (p.Lys3149Glu) c.4468A>G (p.Lys1490Glu) c.2218A>G (p.Lys740Glu) c.3181A>G (p.Lys1061Glu) | |
| 1 | g.197093123T>G | CA1309010 | ASPM | n.2510A>C c.9223A>C (p.Lys3075Gln) c.9445A>C (p.Lys3149Gln) c.4468A>C (p.Lys1490Gln) c.2218A>C (p.Lys740Gln) c.3181A>C (p.Lys1061Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093123T= | CA1148468170 | ASPM | n.2510A= c.9223A= (p.Lys3075=) c.9445A= (p.Lys3149=) c.4468A= (p.Lys1490=) c.2218A= (p.Lys740=) c.3181A= (p.Lys1061=) | |
| 1 | g.197093124T>A | CA422672973 | ASPM | n.2509A>T c.9222A>T (p.Ile3074=) c.9444A>T (p.Ile3148=) c.4467A>T (p.Ile1489=) c.2217A>T (p.Ile739=) c.3180A>T (p.Ile1060=) | |
| 1 | g.197093124T>C | CA344006960 | ASPM | n.2509A>G c.9222A>G (p.Ile3074Met) c.9444A>G (p.Ile3148Met) c.4467A>G (p.Ile1489Met) c.2217A>G (p.Ile739Met) c.3180A>G (p.Ile1060Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093124T>G | CA422672976 | ASPM | n.2509A>C c.9222A>C (p.Ile3074=) c.9444A>C (p.Ile3148=) c.4467A>C (p.Ile1489=) c.2217A>C (p.Ile739=) c.3180A>C (p.Ile1060=) | |
| 1 | g.197093124T= | CA1217926691 | ASPM | n.2509A= c.9222A= (p.Ile3074=) c.9444A= (p.Ile3148=) c.4467A= (p.Ile1489=) c.2217A= (p.Ile739=) c.3180A= (p.Ile1060=) | |
| 1 | g.197093124_197093125insGTCA | CA2747239626 | ASPM | n.2508_2509insTGAC c.9221_9222insTGAC (p.Lys3075AspfsTer5) c.9443_9444insTGAC (p.Lys3149AspfsTer5) c.4466_4467insTGAC (p.Lys1490AspfsTer5) c.2216_2217insTGAC (p.Lys740AspfsTer5) c.3179_3180insTGAC (p.Lys1061AspfsTer5) | |
| 1 | g.197093125A>C | CA344006961 | ASPM | n.2508T>G c.9221T>G (p.Ile3074Arg) c.9443T>G (p.Ile3148Arg) c.4466T>G (p.Ile1489Arg) c.2216T>G (p.Ile739Arg) c.3179T>G (p.Ile1060Arg) | |
| 1 | g.197093125A>G | CA344006968 | ASPM | n.2508T>C c.9221T>C (p.Ile3074Thr) c.9443T>C (p.Ile3148Thr) c.4466T>C (p.Ile1489Thr) c.2216T>C (p.Ile739Thr) c.3179T>C (p.Ile1060Thr) | |
| 1 | g.197093125A>T | CA344006965 | ASPM | n.2508T>A c.9221T>A (p.Ile3074Lys) c.9443T>A (p.Ile3148Lys) c.4466T>A (p.Ile1489Lys) c.2216T>A (p.Ile739Lys) c.3179T>A (p.Ile1060Lys) | |
| 1 | g.197093126T>A | CA344006971 | ASPM | n.2507A>T c.9220A>T (p.Ile3074Leu) c.9442A>T (p.Ile3148Leu) c.4465A>T (p.Ile1489Leu) c.2215A>T (p.Ile739Leu) c.3178A>T (p.Ile1060Leu) | |
| 1 | g.197093126T>C | CA344006972 | ASPM | n.2507A>G c.9220A>G (p.Ile3074Val) c.9442A>G (p.Ile3148Val) c.4465A>G (p.Ile1489Val) c.2215A>G (p.Ile739Val) c.3178A>G (p.Ile1060Val) | |
| 1 | g.197093126T>G | CA344006973 | ASPM | n.2507A>C c.9220A>C (p.Ile3074Leu) c.9442A>C (p.Ile3148Leu) c.4465A>C (p.Ile1489Leu) c.2215A>C (p.Ile739Leu) c.3178A>C (p.Ile1060Leu) | |
| 1 | g.197093127C>A | CA344006976 | ASPM | n.2506G>T c.9219G>T (p.Arg3073Ser) c.9441G>T (p.Arg3147Ser) c.4464G>T (p.Arg1488Ser) c.2214G>T (p.Arg738Ser) c.3177G>T (p.Arg1059Ser) | |
| 1 | g.197093127C= | CA1217926692 | ASPM | n.2506G= c.9219G= (p.Arg3073=) c.9441G= (p.Arg3147=) c.4464G= (p.Arg1488=) c.2214G= (p.Arg738=) c.3177G= (p.Arg1059=) | |
| 1 | g.197093127C>G | CA344006978 | ASPM | n.2506G>C c.9219G>C (p.Arg3073Ser) c.9441G>C (p.Arg3147Ser) c.4464G>C (p.Arg1488Ser) c.2214G>C (p.Arg738Ser) c.3177G>C (p.Arg1059Ser) | |
| 1 | g.197093127C>T | CA1309011 | ASPM | n.2506G>A c.9219G>A (p.Arg3073=) c.9441G>A (p.Arg3147=) c.4464G>A (p.Arg1488=) c.2214G>A (p.Arg738=) c.3177G>A (p.Arg1059=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197093128C>A | CA344006984 | ASPM | n.2505G>T c.9218G>T (p.Arg3073Met) c.9440G>T (p.Arg3147Met) c.4463G>T (p.Arg1488Met) c.2213G>T (p.Arg738Met) c.3176G>T (p.Arg1059Met) | |
| 1 | g.197093128C= | CA1217926693 | ASPM | n.2505G= c.9218G= (p.Arg3073=) c.9440G= (p.Arg3147=) c.4463G= (p.Arg1488=) c.2213G= (p.Arg738=) c.3176G= (p.Arg1059=) | |
| 1 | g.197093128C>G | CA344006986 | ASPM | n.2505G>C c.9218G>C (p.Arg3073Thr) c.9440G>C (p.Arg3147Thr) c.4463G>C (p.Arg1488Thr) c.2213G>C (p.Arg738Thr) c.3176G>C (p.Arg1059Thr) | gnomAD v4 |
| 1 | g.197093128C>T | CA35863415 | ASPM | n.2505G>A c.9218G>A (p.Arg3073Lys) c.9440G>A (p.Arg3147Lys) c.4463G>A (p.Arg1488Lys) c.2213G>A (p.Arg738Lys) c.3176G>A (p.Arg1059Lys) | dbSNP gnomAD v4 |
| 1 | g.197093129T>A | CA344006990 | ASPM | n.2504A>T c.9217A>T (p.Arg3073Trp) c.9439A>T (p.Arg3147Trp) c.4462A>T (p.Arg1488Trp) c.2212A>T (p.Arg738Trp) c.3175A>T (p.Arg1059Trp) | |
| 1 | g.197093129T>C | CA344006992 | ASPM | n.2504A>G c.9217A>G (p.Arg3073Gly) c.9439A>G (p.Arg3147Gly) c.4462A>G (p.Arg1488Gly) c.2212A>G (p.Arg738Gly) c.3175A>G (p.Arg1059Gly) | |
| 1 | g.197093129T>G | CA422672991 | ASPM | n.2504A>C c.9217A>C (p.Arg3073=) c.9439A>C (p.Arg3147=) c.4462A>C (p.Arg1488=) c.2212A>C (p.Arg738=) c.3175A>C (p.Arg1059=) | |
| 1 | g.197093129_197093130insGTG | CA2747239627 | ASPM | n.2503_2504insCAC c.9216_9217insCAC (p.Glu3072_Arg3073insHis) c.9438_9439insCAC (p.Glu3146_Arg3147insHis) c.4461_4462insCAC (p.Glu1487_Arg1488insHis) c.2211_2212insCAC (p.Glu737_Arg738insHis) c.3174_3175insCAC (p.Glu1058_Arg1059insHis) | |
| 1 | g.197093130T>A | CA344006996 | ASPM | n.2503A>T c.9216A>T (p.Glu3072Asp) c.9438A>T (p.Glu3146Asp) c.4461A>T (p.Glu1487Asp) c.2211A>T (p.Glu737Asp) c.3174A>T (p.Glu1058Asp) | |
| 1 | g.197093130T>C | CA422672994 | ASPM | n.2503A>G c.9216A>G (p.Glu3072=) c.9438A>G (p.Glu3146=) c.4461A>G (p.Glu1487=) c.2211A>G (p.Glu737=) c.3174A>G (p.Glu1058=) | |
| 1 | g.197093130T>G | CA344006998 | ASPM | n.2503A>C c.9216A>C (p.Glu3072Asp) c.9438A>C (p.Glu3146Asp) c.4461A>C (p.Glu1487Asp) c.2211A>C (p.Glu737Asp) c.3174A>C (p.Glu1058Asp) | |
| 1 | g.197093131_197093169del | CA2561352810 | ASPM | n.2465_2503del c.9178_9216del (p.Gln3060_Glu3072del) c.9400_9438del (p.Gln3134_Glu3146del) c.4423_4461del (p.Gln1475_Glu1487del) c.2173_2211del (p.Gln725_Glu737del) c.3136_3174del (p.Gln1046_Glu1058del) | |
| 1 | g.197093131T>A | CA344007000 | ASPM | n.2502A>T c.9215A>T (p.Glu3072Val) c.9437A>T (p.Glu3146Val) c.4460A>T (p.Glu1487Val) c.2210A>T (p.Glu737Val) c.3173A>T (p.Glu1058Val) | |
| 1 | g.197093131T>C | CA344007005 | ASPM | n.2502A>G c.9215A>G (p.Glu3072Gly) c.9437A>G (p.Glu3146Gly) c.4460A>G (p.Glu1487Gly) c.2210A>G (p.Glu737Gly) c.3173A>G (p.Glu1058Gly) | |
| 1 | g.197093131T>G | CA1309012 | ASPM | n.2502A>C c.9215A>C (p.Glu3072Ala) c.9437A>C (p.Glu3146Ala) c.4460A>C (p.Glu1487Ala) c.2210A>C (p.Glu737Ala) c.3173A>C (p.Glu1058Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197093131T= | CA1146507585 | ASPM | n.2502A= c.9215A= (p.Glu3072=) c.9437A= (p.Glu3146=) c.4460A= (p.Glu1487=) c.2210A= (p.Glu737=) c.3173A= (p.Glu1058=) | |
| 1 | g.197093131_197093132insGAG | CA2747239628 | ASPM | n.2501_2502insCTC c.9214_9215insCTC (p.Glu3072delinsAlaGln) c.9436_9437insCTC (p.Glu3146delinsAlaGln) c.4459_4460insCTC (p.Glu1487delinsAlaGln) c.2209_2210insCTC (p.Glu737delinsAlaGln) c.3172_3173insCTC (p.Glu1058delinsAlaGln) | |
| 1 | g.197093132C>A | CA344007008 | ASPM | n.2501G>T c.9214G>T (p.Glu3072Ter) c.9436G>T (p.Glu3146Ter) c.4459G>T (p.Glu1487Ter) c.2209G>T (p.Glu737Ter) c.3172G>T (p.Glu1058Ter) | |
| 1 | g.197093132C>G | CA344007011 | ASPM | n.2501G>C c.9214G>C (p.Glu3072Gln) c.9436G>C (p.Glu3146Gln) c.4459G>C (p.Glu1487Gln) c.2209G>C (p.Glu737Gln) c.3172G>C (p.Glu1058Gln) | |
| 1 | g.197093132C>T | CA344007013 | ASPM | n.2501G>A c.9214G>A (p.Glu3072Lys) c.9436G>A (p.Glu3146Lys) c.4459G>A (p.Glu1487Lys) c.2209G>A (p.Glu737Lys) c.3172G>A (p.Glu1058Lys) | gnomAD v4 |
| 1 | g.197093133A>C | CA344007015 | ASPM | n.2500T>G c.9213T>G (p.His3071Gln) c.9435T>G (p.His3145Gln) c.4458T>G (p.His1486Gln) c.2208T>G (p.His736Gln) c.3171T>G (p.His1057Gln) | |
| 1 | g.197093133A>G | CA422673004 | ASPM | n.2500T>C c.9213T>C (p.His3071=) c.9435T>C (p.His3145=) c.4458T>C (p.His1486=) c.2208T>C (p.His736=) c.3171T>C (p.His1057=) | |
| 1 | g.197093133A>T | CA344007017 | ASPM | n.2500T>A c.9213T>A (p.His3071Gln) c.9435T>A (p.His3145Gln) c.4458T>A (p.His1486Gln) c.2208T>A (p.His736Gln) c.3171T>A (p.His1057Gln) | |
| 1 | g.197093134T>A | CA1309013 | ASPM | n.2499A>T c.9212A>T (p.His3071Leu) c.9434A>T (p.His3145Leu) c.4457A>T (p.His1486Leu) c.2207A>T (p.His736Leu) c.3170A>T (p.His1057Leu) | dbSNP ExAC gnomAD v2 |
| 1 | g.197093134T>C | CA344007022 | ASPM | n.2499A>G c.9212A>G (p.His3071Arg) c.9434A>G (p.His3145Arg) c.4457A>G (p.His1486Arg) c.2207A>G (p.His736Arg) c.3170A>G (p.His1057Arg) | dbSNP |
| 1 | g.197093134T>G | CA344007024 | ASPM | n.2499A>C c.9212A>C (p.His3071Pro) c.9434A>C (p.His3145Pro) c.4457A>C (p.His1486Pro) c.2207A>C (p.His736Pro) c.3170A>C (p.His1057Pro) | |
| 1 | g.197093134T= | CA1148269449 | ASPM | n.2499A= c.9212A= (p.His3071=) c.9434A= (p.His3145=) c.4457A= (p.His1486=) c.2207A= (p.His736=) c.3170A= (p.His1057=) |