UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197090087_197090197del | CA2747239567 | ASPM | n.3116+1_3117-1del c.9829+1_9830-1del c.10051+1_10052-1del c.9805+1_9806-1del c.5074+1_5075-1del c.2824+1_2825-1del c.3787+1_3788-1del | |
| 1 | g.197090181T>C | CA1308860 | ASPM | n.3116+15A>G c.9829+15A>G (n.9829+15A>G) c.10051+15A>G (n.10051+15A>G) c.9805+15A>G (n.9805+15A>G) c.5074+15A>G (n.5074+15A>G) c.2824+15A>G (n.2824+15A>G) c.3787+15A>G (n.3787+15A>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.197090181T>G | CA1010898247 | ASPM | n.3116+15A>C c.9829+15A>C (n.9829+15A>C) c.10051+15A>C (n.10051+15A>C) c.9805+15A>C (n.9805+15A>C) c.5074+15A>C (n.5074+15A>C) c.2824+15A>C (n.2824+15A>C) c.3787+15A>C (n.3787+15A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090181T= | CA1217925108 | ASPM | n.3116+15A= c.9829+15A= (n.9829+15A=) c.10051+15A= (n.10051+15A=) c.9805+15A= (n.9805+15A=) c.5074+15A= (n.5074+15A=) c.2824+15A= (n.2824+15A=) c.3787+15A= (n.3787+15A=) | |
| 1 | g.197090183A>C | CA2649660630 | ASPM | n.3116+13T>G c.9829+13T>G (n.9829+13T>G) c.10051+13T>G (n.10051+13T>G) c.9805+13T>G (n.9805+13T>G) c.5074+13T>G (n.5074+13T>G) c.2824+13T>G (n.2824+13T>G) c.3787+13T>G (n.3787+13T>G) | gnomAD v4 |
| 1 | g.197090184A= | CA1217925111 | ASPM | n.3116+12T= c.9829+12T= (n.9829+12T=) c.10051+12T= (n.10051+12T=) c.9805+12T= (n.9805+12T=) c.5074+12T= (n.5074+12T=) c.2824+12T= (n.2824+12T=) c.3787+12T= (n.3787+12T=) | |
| 1 | g.197090184A>T | CA1010898248 | ASPM | n.3116+12T>A c.9829+12T>A (n.9829+12T>A) c.10051+12T>A (n.10051+12T>A) c.9805+12T>A (n.9805+12T>A) c.5074+12T>A (n.5074+12T>A) c.2824+12T>A (n.2824+12T>A) c.3787+12T>A (n.3787+12T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090185C>T | CA2649660631 | ASPM | n.3116+11G>A c.9829+11G>A (n.9829+11G>A) c.10051+11G>A (n.10051+11G>A) c.9805+11G>A (n.9805+11G>A) c.5074+11G>A (n.5074+11G>A) c.2824+11G>A (n.2824+11G>A) c.3787+11G>A (n.3787+11G>A) | gnomAD v4 |
| 1 | g.197090186A= | CA1217925113 | ASPM | n.3116+10T= c.9829+10T= (n.9829+10T=) c.10051+10T= (n.10051+10T=) c.9805+10T= (n.9805+10T=) c.5074+10T= (n.5074+10T=) c.2824+10T= (n.2824+10T=) c.3787+10T= (n.3787+10T=) | |
| 1 | g.197090186A>G | CA35861923 | ASPM | n.3116+10T>C c.9829+10T>C (n.9829+10T>C) c.10051+10T>C (n.10051+10T>C) c.9805+10T>C (n.9805+10T>C) c.5074+10T>C (n.5074+10T>C) c.2824+10T>C (n.2824+10T>C) c.3787+10T>C (n.3787+10T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090188_197090191del | CA2649660632 | ASPM | n.3116+7_3116+10del c.9829+7_9829+10del (n.9829+7_9829+10del) c.10051+7_10051+10del (n.10051+7_10051+10del) c.9805+7_9805+10del (n.9805+7_9805+10del) c.5074+7_5074+10del (n.5074+7_5074+10del) c.2824+7_2824+10del (n.2824+7_2824+10del) c.3787+7_3787+10del (n.3787+7_3787+10del) | gnomAD v4 |
| 1 | g.197090187C>T | CA2649660633 | ASPM | n.3116+9G>A c.9829+9G>A (n.9829+9G>A) c.10051+9G>A (n.10051+9G>A) c.9805+9G>A (n.9805+9G>A) c.5074+9G>A (n.5074+9G>A) c.2824+9G>A (n.2824+9G>A) c.3787+9G>A (n.3787+9G>A) | gnomAD v4 |
| 1 | g.197090188A= | CA1217925116 | ASPM | n.3116+8T= c.9829+8T= (n.9829+8T=) c.10051+8T= (n.10051+8T=) c.9805+8T= (n.9805+8T=) c.5074+8T= (n.5074+8T=) c.2824+8T= (n.2824+8T=) c.3787+8T= (n.3787+8T=) | |
| 1 | g.197090188A>C | CA1217925117 | ASPM | n.3116+8T>G c.9829+8T>G (n.9829+8T>G) c.10051+8T>G (n.10051+8T>G) c.9805+8T>G (n.9805+8T>G) c.5074+8T>G (n.5074+8T>G) c.2824+8T>G (n.2824+8T>G) c.3787+8T>G (n.3787+8T>G) | dbSNP |
| 1 | g.197090191C>T | CA2649660634 | ASPM | n.3116+5G>A c.9829+5G>A (n.9829+5G>A) c.10051+5G>A (n.10051+5G>A) c.9805+5G>A (n.9805+5G>A) c.5074+5G>A (n.5074+5G>A) c.2824+5G>A (n.2824+5G>A) c.3787+5G>A (n.3787+5G>A) | gnomAD v4 |
| 1 | g.197090194A>C | CA344001465 | ASPM | n.3116+2T>G c.9829+2T>G (n.9829+2T>G) c.10051+2T>G (n.10051+2T>G) c.9805+2T>G (n.9805+2T>G) c.5074+2T>G (n.5074+2T>G) c.2824+2T>G (n.2824+2T>G) c.3787+2T>G (n.3787+2T>G) | |
| 1 | g.197090194A>G | CA344001467 | ASPM | n.3116+2T>C c.9829+2T>C (n.9829+2T>C) c.10051+2T>C (n.10051+2T>C) c.9805+2T>C (n.9805+2T>C) c.5074+2T>C (n.5074+2T>C) c.2824+2T>C (n.2824+2T>C) c.3787+2T>C (n.3787+2T>C) | |
| 1 | g.197090194A>T | CA344001468 | ASPM | n.3116+2T>A c.9829+2T>A (n.9829+2T>A) c.10051+2T>A (n.10051+2T>A) c.9805+2T>A (n.9805+2T>A) c.5074+2T>A (n.5074+2T>A) c.2824+2T>A (n.2824+2T>A) c.3787+2T>A (n.3787+2T>A) | |
| 1 | g.197090195C>A | CA344001472 | ASPM | n.3116+1G>T c.9829+1G>T (n.9829+1G>T) c.10051+1G>T (n.10051+1G>T) c.9805+1G>T (n.9805+1G>T) c.5074+1G>T (n.5074+1G>T) c.2824+1G>T (n.2824+1G>T) c.3787+1G>T (n.3787+1G>T) | |
| 1 | g.197090195C>G | CA344001474 | ASPM | n.3116+1G>C c.9829+1G>C (n.9829+1G>C) c.10051+1G>C (n.10051+1G>C) c.9805+1G>C (n.9805+1G>C) c.5074+1G>C (n.5074+1G>C) c.2824+1G>C (n.2824+1G>C) c.3787+1G>C (n.3787+1G>C) | |
| 1 | g.197090195C>T | CA344001477 | ASPM | n.3116+1G>A c.9829+1G>A (n.9829+1G>A) c.10051+1G>A (n.10051+1G>A) c.9805+1G>A (n.9805+1G>A) c.5074+1G>A (n.5074+1G>A) c.2824+1G>A (n.2824+1G>A) c.3787+1G>A (n.3787+1G>A) | |
| 1 | g.197090196C>A | CA1308861 | ASPM | n.3116G>T c.9829G>T (p.Glu3277Ter) c.10051G>T (p.Glu3351Ter) c.9805G>T (p.Glu3269Ter) c.5074G>T (p.Glu1692Ter) c.2824G>T (p.Glu942Ter) c.3787G>T (p.Glu1263Ter) | dbSNP ExAC gnomAD v2 |
| 1 | g.197090196C= | CA1217925120 | ASPM | n.3116G= c.9829G= (p.Glu3277=) c.10051G= (p.Glu3351=) c.9805G= (p.Glu3269=) c.5074G= (p.Glu1692=) c.2824G= (p.Glu942=) c.3787G= (p.Glu1263=) | |
| 1 | g.197090196C>G | CA344001483 | ASPM | n.3116G>C c.9829G>C (p.Glu3277Gln) c.10051G>C (p.Glu3351Gln) c.9805G>C (p.Glu3269Gln) c.5074G>C (p.Glu1692Gln) c.2824G>C (p.Glu942Gln) c.3787G>C (p.Glu1263Gln) | |
| 1 | g.197090196C>T | CA344001480 | ASPM | n.3116G>A c.9829G>A (p.Glu3277Lys) c.10051G>A (p.Glu3351Lys) c.9805G>A (p.Glu3269Lys) c.5074G>A (p.Glu1692Lys) c.2824G>A (p.Glu942Lys) c.3787G>A (p.Glu1263Lys) | |
| 1 | g.197090197T>A | CA422805062 | ASPM | n.3115A>T c.9828A>T (p.Leu3276=) c.10050A>T (p.Leu3350=) c.9804A>T (p.Leu3268=) c.5073A>T (p.Leu1691=) c.2823A>T (p.Leu941=) c.3786A>T (p.Leu1262=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090197T>C | CA422805065 | ASPM | n.3115A>G c.9828A>G (p.Leu3276=) c.10050A>G (p.Leu3350=) c.9804A>G (p.Leu3268=) c.5073A>G (p.Leu1691=) c.2823A>G (p.Leu941=) c.3786A>G (p.Leu1262=) | |
| 1 | g.197090197T>G | CA422805066 | ASPM | n.3115A>C c.9828A>C (p.Leu3276=) c.10050A>C (p.Leu3350=) c.9804A>C (p.Leu3268=) c.5073A>C (p.Leu1691=) c.2823A>C (p.Leu941=) c.3786A>C (p.Leu1262=) | |
| 1 | g.197090197T= | CA1217925122 | ASPM | n.3115A= c.9828A= (p.Leu3276=) c.10050A= (p.Leu3350=) c.9804A= (p.Leu3268=) c.5073A= (p.Leu1691=) c.2823A= (p.Leu941=) c.3786A= (p.Leu1262=) | |
| 1 | g.197090198_197090201del | CA2649660635 | ASPM | n.3112_3115del c.9825_9828del (p.His3275GlnfsTer3) c.10047_10050del (p.His3349GlnfsTer3) c.9801_9804del (p.His3267GlnfsTer3) c.5070_5073del (p.His1690GlnfsTer3) c.2820_2823del (p.His940GlnfsTer3) c.3783_3786del (p.His1261GlnfsTer3) | gnomAD v4 |
| 1 | g.197090198A>C | CA344001485 | ASPM | n.3114T>G c.9827T>G (p.Leu3276Arg) c.10049T>G (p.Leu3350Arg) c.9803T>G (p.Leu3268Arg) c.5072T>G (p.Leu1691Arg) c.2822T>G (p.Leu941Arg) c.3785T>G (p.Leu1262Arg) | |
| 1 | g.197090198A>G | CA344001487 | ASPM | n.3114T>C c.9827T>C (p.Leu3276Pro) c.10049T>C (p.Leu3350Pro) c.9803T>C (p.Leu3268Pro) c.5072T>C (p.Leu1691Pro) c.2822T>C (p.Leu941Pro) c.3785T>C (p.Leu1262Pro) | |
| 1 | g.197090198A>T | CA344001490 | ASPM | n.3114T>A c.9827T>A (p.Leu3276Gln) c.10049T>A (p.Leu3350Gln) c.9803T>A (p.Leu3268Gln) c.5072T>A (p.Leu1691Gln) c.2822T>A (p.Leu941Gln) c.3785T>A (p.Leu1262Gln) | |
| 1 | g.197090199G>A | CA422805071 | ASPM | n.3113C>T c.9826C>T (p.Leu3276=) c.10048C>T (p.Leu3350=) c.9802C>T (p.Leu3268=) c.5071C>T (p.Leu1691=) c.2821C>T (p.Leu941=) c.3784C>T (p.Leu1262=) | |
| 1 | g.197090199G>C | CA344001493 | ASPM | n.3113C>G c.9826C>G (p.Leu3276Val) c.10048C>G (p.Leu3350Val) c.9802C>G (p.Leu3268Val) c.5071C>G (p.Leu1691Val) c.2821C>G (p.Leu941Val) c.3784C>G (p.Leu1262Val) | |
| 1 | g.197090199G>T | CA344001496 | ASPM | n.3113C>A c.9826C>A (p.Leu3276Ile) c.10048C>A (p.Leu3350Ile) c.9802C>A (p.Leu3268Ile) c.5071C>A (p.Leu1691Ile) c.2821C>A (p.Leu941Ile) c.3784C>A (p.Leu1262Ile) | |
| 1 | g.197090200G>A | CA422805082 | ASPM | n.3112C>T c.9825C>T (p.His3275=) c.10047C>T (p.His3349=) c.9801C>T (p.His3267=) c.5070C>T (p.His1690=) c.2820C>T (p.His940=) c.3783C>T (p.His1261=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090200G>C | CA344001501 | ASPM | n.3112C>G c.9825C>G (p.His3275Gln) c.10047C>G (p.His3349Gln) c.9801C>G (p.His3267Gln) c.5070C>G (p.His1690Gln) c.2820C>G (p.His940Gln) c.3783C>G (p.His1261Gln) | |
| 1 | g.197090200G= | CA1217925124 | ASPM | n.3112C= c.9825C= (p.His3275=) c.10047C= (p.His3349=) c.9801C= (p.His3267=) c.5070C= (p.His1690=) c.2820C= (p.His940=) c.3783C= (p.His1261=) | |
| 1 | g.197090200G>T | CA344001504 | ASPM | n.3112C>A c.9825C>A (p.His3275Gln) c.10047C>A (p.His3349Gln) c.9801C>A (p.His3267Gln) c.5070C>A (p.His1690Gln) c.2820C>A (p.His940Gln) c.3783C>A (p.His1261Gln) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090200_197090203del | CA2649660636 | ASPM | n.3109_3112del c.9822_9825del (p.Lys3274AsnfsTer2) c.10044_10047del (p.Lys3348AsnfsTer2) c.9798_9801del (p.Lys3266AsnfsTer2) c.5067_5070del (p.Lys1689AsnfsTer2) c.2817_2820del (p.Lys939AsnfsTer2) c.3780_3783del (p.Lys1260AsnfsTer2) | gnomAD v4 |
| 1 | g.197090201T>A | CA344001506 | ASPM | n.3111A>T c.9824A>T (p.His3275Leu) c.10046A>T (p.His3349Leu) c.9800A>T (p.His3267Leu) c.5069A>T (p.His1690Leu) c.2819A>T (p.His940Leu) c.3782A>T (p.His1261Leu) | |
| 1 | g.197090201T>C | CA344001581 | ASPM | n.3111A>G c.9824A>G (p.His3275Arg) c.10046A>G (p.His3349Arg) c.9800A>G (p.His3267Arg) c.5069A>G (p.His1690Arg) c.2819A>G (p.His940Arg) c.3782A>G (p.His1261Arg) | gnomAD v4 |
| 1 | g.197090201T>G | CA344001591 | ASPM | n.3111A>C c.9824A>C (p.His3275Pro) c.10046A>C (p.His3349Pro) c.9800A>C (p.His3267Pro) c.5069A>C (p.His1690Pro) c.2819A>C (p.His940Pro) c.3782A>C (p.His1261Pro) | ClinVar dbSNP |
| 1 | g.197090202G>A | CA344001598 | ASPM | n.3110C>T c.9823C>T (p.His3275Tyr) c.10045C>T (p.His3349Tyr) c.9799C>T (p.His3267Tyr) c.5068C>T (p.His1690Tyr) c.2818C>T (p.His940Tyr) c.3781C>T (p.His1261Tyr) | |
| 1 | g.197090202G>C | CA344001600 | ASPM | n.3110C>G c.9823C>G (p.His3275Asp) c.10045C>G (p.His3349Asp) c.9799C>G (p.His3267Asp) c.5068C>G (p.His1690Asp) c.2818C>G (p.His940Asp) c.3781C>G (p.His1261Asp) | |
| 1 | g.197090202G>T | CA344001595 | ASPM | n.3110C>A c.9823C>A (p.His3275Asn) c.10045C>A (p.His3349Asn) c.9799C>A (p.His3267Asn) c.5068C>A (p.His1690Asn) c.2818C>A (p.His940Asn) c.3781C>A (p.His1261Asn) | |
| 1 | g.197090203T>A | CA344001606 | ASPM | n.3109A>T c.9822A>T (p.Lys3274Asn) c.10044A>T (p.Lys3348Asn) c.9798A>T (p.Lys3266Asn) c.5067A>T (p.Lys1689Asn) c.2817A>T (p.Lys939Asn) c.3780A>T (p.Lys1260Asn) | |
| 1 | g.197090203T>C | CA422805087 | ASPM | n.3109A>G c.9822A>G (p.Lys3274=) c.10044A>G (p.Lys3348=) c.9798A>G (p.Lys3266=) c.5067A>G (p.Lys1689=) c.2817A>G (p.Lys939=) c.3780A>G (p.Lys1260=) | |
| 1 | g.197090203T>G | CA344001607 | ASPM | n.3109A>C c.9822A>C (p.Lys3274Asn) c.10044A>C (p.Lys3348Asn) c.9798A>C (p.Lys3266Asn) c.5067A>C (p.Lys1689Asn) c.2817A>C (p.Lys939Asn) c.3780A>C (p.Lys1260Asn) | |
| 1 | g.197090206del | CA2573979000 | ASPM | n.3109del c.9822del (p.Lys3274AsnfsTer3) c.10044del (p.Lys3348AsnfsTer3) c.9798del (p.Lys3266AsnfsTer3) c.5067del (p.Lys1689AsnfsTer3) c.2817del (p.Lys939AsnfsTer3) c.3780del (p.Lys1260AsnfsTer3) | gnomAD v4 |
| 1 | g.197090204T>A | CA344001609 | ASPM | n.3108A>T c.9821A>T (p.Lys3274Ile) c.10043A>T (p.Lys3348Ile) c.9797A>T (p.Lys3266Ile) c.5066A>T (p.Lys1689Ile) c.2816A>T (p.Lys939Ile) c.3779A>T (p.Lys1260Ile) | |
| 1 | g.197090204T>C | CA344001610 | ASPM | n.3108A>G c.9821A>G (p.Lys3274Arg) c.10043A>G (p.Lys3348Arg) c.9797A>G (p.Lys3266Arg) c.5066A>G (p.Lys1689Arg) c.2816A>G (p.Lys939Arg) c.3779A>G (p.Lys1260Arg) | |
| 1 | g.197090204T>G | CA344001612 | ASPM | n.3108A>C c.9821A>C (p.Lys3274Thr) c.10043A>C (p.Lys3348Thr) c.9797A>C (p.Lys3266Thr) c.5066A>C (p.Lys1689Thr) c.2816A>C (p.Lys939Thr) c.3779A>C (p.Lys1260Thr) | |
| 1 | g.197090205T>A | CA344001615 | ASPM | n.3107A>T c.9820A>T (p.Lys3274Ter) c.10042A>T (p.Lys3348Ter) c.9796A>T (p.Lys3266Ter) c.5065A>T (p.Lys1689Ter) c.2815A>T (p.Lys939Ter) c.3778A>T (p.Lys1260Ter) | |
| 1 | g.197090205T>C | CA344001617 | ASPM | n.3107A>G c.9820A>G (p.Lys3274Glu) c.10042A>G (p.Lys3348Glu) c.9796A>G (p.Lys3266Glu) c.5065A>G (p.Lys1689Glu) c.2815A>G (p.Lys939Glu) c.3778A>G (p.Lys1260Glu) | |
| 1 | g.197090205T>G | CA344001618 | ASPM | n.3107A>C c.9820A>C (p.Lys3274Gln) c.10042A>C (p.Lys3348Gln) c.9796A>C (p.Lys3266Gln) c.5065A>C (p.Lys1689Gln) c.2815A>C (p.Lys939Gln) c.3778A>C (p.Lys1260Gln) | |
| 1 | g.197090206T>A | CA344001622 | ASPM | n.3106A>T c.9819A>T (p.Leu3273Phe) c.10041A>T (p.Leu3347Phe) c.9795A>T (p.Leu3265Phe) c.5064A>T (p.Leu1688Phe) c.2814A>T (p.Leu938Phe) c.3777A>T (p.Leu1259Phe) | |
| 1 | g.197090206T>C | CA422805102 | ASPM | n.3106A>G c.9819A>G (p.Leu3273=) c.10041A>G (p.Leu3347=) c.9795A>G (p.Leu3265=) c.5064A>G (p.Leu1688=) c.2814A>G (p.Leu938=) c.3777A>G (p.Leu1259=) | |
| 1 | g.197090206T>G | CA344001624 | ASPM | n.3106A>C c.9819A>C (p.Leu3273Phe) c.10041A>C (p.Leu3347Phe) c.9795A>C (p.Leu3265Phe) c.5064A>C (p.Leu1688Phe) c.2814A>C (p.Leu938Phe) c.3777A>C (p.Leu1259Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090207A>C | CA344001627 | ASPM | n.3105T>G c.9818T>G (p.Leu3273Ter) c.10040T>G (p.Leu3347Ter) c.9794T>G (p.Leu3265Ter) c.5063T>G (p.Leu1688Ter) c.2813T>G (p.Leu938Ter) c.3776T>G (p.Leu1259Ter) | |
| 1 | g.197090207A>G | CA344001629 | ASPM | n.3105T>C c.9818T>C (p.Leu3273Ser) c.10040T>C (p.Leu3347Ser) c.9794T>C (p.Leu3265Ser) c.5063T>C (p.Leu1688Ser) c.2813T>C (p.Leu938Ser) c.3776T>C (p.Leu1259Ser) | gnomAD v4 |
| 1 | g.197090207A>T | CA344001634 | ASPM | n.3105T>A c.9818T>A (p.Leu3273Ter) c.10040T>A (p.Leu3347Ter) c.9794T>A (p.Leu3265Ter) c.5063T>A (p.Leu1688Ter) c.2813T>A (p.Leu938Ter) c.3776T>A (p.Leu1259Ter) | |
| 1 | g.197090208A>C | CA344001636 | ASPM | n.3104T>G c.9817T>G (p.Leu3273Val) c.10039T>G (p.Leu3347Val) c.9793T>G (p.Leu3265Val) c.5062T>G (p.Leu1688Val) c.2812T>G (p.Leu938Val) c.3775T>G (p.Leu1259Val) | |
| 1 | g.197090208A>G | CA422805107 | ASPM | n.3104T>C c.9817T>C (p.Leu3273=) c.10039T>C (p.Leu3347=) c.9793T>C (p.Leu3265=) c.5062T>C (p.Leu1688=) c.2812T>C (p.Leu938=) c.3775T>C (p.Leu1259=) | COSMIC |
| 1 | g.197090208A>T | CA344001635 | ASPM | n.3104T>A c.9817T>A (p.Leu3273Ile) c.10039T>A (p.Leu3347Ile) c.9793T>A (p.Leu3265Ile) c.5062T>A (p.Leu1688Ile) c.2812T>A (p.Leu938Ile) c.3775T>A (p.Leu1259Ile) | |
| 1 | g.197090209G>A | CA422805109 | ASPM | n.3103C>T c.9816C>T (p.Ala3272=) c.10038C>T (p.Ala3346=) c.9792C>T (p.Ala3264=) c.5061C>T (p.Ala1687=) c.2811C>T (p.Ala937=) c.3774C>T (p.Ala1258=) | |
| 1 | g.197090209G>C | CA422805111 | ASPM | n.3103C>G c.9816C>G (p.Ala3272=) c.10038C>G (p.Ala3346=) c.9792C>G (p.Ala3264=) c.5061C>G (p.Ala1687=) c.2811C>G (p.Ala937=) c.3774C>G (p.Ala1258=) | |
| 1 | g.197090209G>T | CA422805112 | ASPM | n.3103C>A c.9816C>A (p.Ala3272=) c.10038C>A (p.Ala3346=) c.9792C>A (p.Ala3264=) c.5061C>A (p.Ala1687=) c.2811C>A (p.Ala937=) c.3774C>A (p.Ala1258=) | |
| 1 | g.197090210G>A | CA344001637 | ASPM | n.3102C>T c.9815C>T (p.Ala3272Val) c.10037C>T (p.Ala3346Val) c.9791C>T (p.Ala3264Val) c.5060C>T (p.Ala1687Val) c.2810C>T (p.Ala937Val) c.3773C>T (p.Ala1258Val) | |
| 1 | g.197090210G>C | CA344001638 | ASPM | n.3102C>G c.9815C>G (p.Ala3272Gly) c.10037C>G (p.Ala3346Gly) c.9791C>G (p.Ala3264Gly) c.5060C>G (p.Ala1687Gly) c.2810C>G (p.Ala937Gly) c.3773C>G (p.Ala1258Gly) | gnomAD v4 |
| 1 | g.197090210G>T | CA344001639 | ASPM | n.3102C>A c.9815C>A (p.Ala3272Asp) c.10037C>A (p.Ala3346Asp) c.9791C>A (p.Ala3264Asp) c.5060C>A (p.Ala1687Asp) c.2810C>A (p.Ala937Asp) c.3773C>A (p.Ala1258Asp) | |
| 1 | g.197090211C>A | CA344001640 | ASPM | n.3101G>T c.9814G>T (p.Ala3272Ser) c.10036G>T (p.Ala3346Ser) c.9790G>T (p.Ala3264Ser) c.5059G>T (p.Ala1687Ser) c.2809G>T (p.Ala937Ser) c.3772G>T (p.Ala1258Ser) | |
| 1 | g.197090211C= | CA1217925127 | ASPM | n.3101G= c.9814G= (p.Ala3272=) c.10036G= (p.Ala3346=) c.9790G= (p.Ala3264=) c.5059G= (p.Ala1687=) c.2809G= (p.Ala937=) c.3772G= (p.Ala1258=) | |
| 1 | g.197090211C>G | CA344001641 | ASPM | n.3101G>C c.9814G>C (p.Ala3272Pro) c.10036G>C (p.Ala3346Pro) c.9790G>C (p.Ala3264Pro) c.5059G>C (p.Ala1687Pro) c.2809G>C (p.Ala937Pro) c.3772G>C (p.Ala1258Pro) | |
| 1 | g.197090211C>T | CA35861926 | ASPM | n.3101G>A c.9814G>A (p.Ala3272Thr) c.10036G>A (p.Ala3346Thr) c.9790G>A (p.Ala3264Thr) c.5059G>A (p.Ala1687Thr) c.2809G>A (p.Ala937Thr) c.3772G>A (p.Ala1258Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090212C>A | CA344001643 | ASPM | n.3100G>T c.9813G>T (p.Glu3271Asp) c.10035G>T (p.Glu3345Asp) c.9789G>T (p.Glu3263Asp) c.5058G>T (p.Glu1686Asp) c.2808G>T (p.Glu936Asp) c.3771G>T (p.Glu1257Asp) | |
| 1 | g.197090212C= | CA1217925130 | ASPM | n.3100G= c.9813G= (p.Glu3271=) c.10035G= (p.Glu3345=) c.9789G= (p.Glu3263=) c.5058G= (p.Glu1686=) c.2808G= (p.Glu936=) c.3771G= (p.Glu1257=) | |
| 1 | g.197090212C>G | CA344001642 | ASPM | n.3100G>C c.9813G>C (p.Glu3271Asp) c.10035G>C (p.Glu3345Asp) c.9789G>C (p.Glu3263Asp) c.5058G>C (p.Glu1686Asp) c.2808G>C (p.Glu936Asp) c.3771G>C (p.Glu1257Asp) | |
| 1 | g.197090212C>T | CA422805118 | ASPM | n.3100G>A c.9813G>A (p.Glu3271=) c.10035G>A (p.Glu3345=) c.9789G>A (p.Glu3263=) c.5058G>A (p.Glu1686=) c.2808G>A (p.Glu936=) c.3771G>A (p.Glu1257=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090213T>A | CA344001644 | ASPM | n.3099A>T c.9812A>T (p.Glu3271Val) c.10034A>T (p.Glu3345Val) c.9788A>T (p.Glu3263Val) c.5057A>T (p.Glu1686Val) c.2807A>T (p.Glu936Val) c.3770A>T (p.Glu1257Val) | |
| 1 | g.197090213T>C | CA344001645 | ASPM | n.3099A>G c.9812A>G (p.Glu3271Gly) c.10034A>G (p.Glu3345Gly) c.9788A>G (p.Glu3263Gly) c.5057A>G (p.Glu1686Gly) c.2807A>G (p.Glu936Gly) c.3770A>G (p.Glu1257Gly) | |
| 1 | g.197090213T>G | CA344001646 | ASPM | n.3099A>C c.9812A>C (p.Glu3271Ala) c.10034A>C (p.Glu3345Ala) c.9788A>C (p.Glu3263Ala) c.5057A>C (p.Glu1686Ala) c.2807A>C (p.Glu936Ala) c.3770A>C (p.Glu1257Ala) | |
| 1 | g.197090214C>A | CA344001647 | ASPM | n.3098G>T c.9811G>T (p.Glu3271Ter) c.10033G>T (p.Glu3345Ter) c.9787G>T (p.Glu3263Ter) c.5056G>T (p.Glu1686Ter) c.2806G>T (p.Glu936Ter) c.3769G>T (p.Glu1257Ter) | |
| 1 | g.197090214C>G | CA344001648 | ASPM | n.3098G>C c.9811G>C (p.Glu3271Gln) c.10033G>C (p.Glu3345Gln) c.9787G>C (p.Glu3263Gln) c.5056G>C (p.Glu1686Gln) c.2806G>C (p.Glu936Gln) c.3769G>C (p.Glu1257Gln) | |
| 1 | g.197090214C>T | CA344001649 | ASPM | n.3098G>A c.9811G>A (p.Glu3271Lys) c.10033G>A (p.Glu3345Lys) c.9787G>A (p.Glu3263Lys) c.5056G>A (p.Glu1686Lys) c.2806G>A (p.Glu936Lys) c.3769G>A (p.Glu1257Lys) | |
| 1 | g.197090215A>C | CA422805124 | ASPM | n.3097T>G c.9810T>G (p.Leu3270=) c.10032T>G (p.Leu3344=) c.9786T>G (p.Leu3262=) c.5055T>G (p.Leu1685=) c.2805T>G (p.Leu935=) c.3768T>G (p.Leu1256=) | |
| 1 | g.197090215A>G | CA422805125 | ASPM | n.3097T>C c.9810T>C (p.Leu3270=) c.10032T>C (p.Leu3344=) c.9786T>C (p.Leu3262=) c.5055T>C (p.Leu1685=) c.2805T>C (p.Leu935=) c.3768T>C (p.Leu1256=) | |
| 1 | g.197090215A>T | CA422805127 | ASPM | n.3097T>A c.9810T>A (p.Leu3270=) c.10032T>A (p.Leu3344=) c.9786T>A (p.Leu3262=) c.5055T>A (p.Leu1685=) c.2805T>A (p.Leu935=) c.3768T>A (p.Leu1256=) | |
| 1 | g.197090216A= | CA1143917914 | ASPM | n.3096T= c.9809T= (p.Leu3270=) c.10031T= (p.Leu3344=) c.9785T= (p.Leu3262=) c.5054T= (p.Leu1685=) c.2804T= (p.Leu935=) c.3767T= (p.Leu1256=) | |
| 1 | g.197090216A>C | CA344001650 | ASPM | n.3096T>G c.9809T>G (p.Leu3270Arg) c.10031T>G (p.Leu3344Arg) c.9785T>G (p.Leu3262Arg) c.5054T>G (p.Leu1685Arg) c.2804T>G (p.Leu935Arg) c.3767T>G (p.Leu1256Arg) | |
| 1 | g.197090216A>G | CA344001651 | ASPM | n.3096T>C c.9809T>C (p.Leu3270Pro) c.10031T>C (p.Leu3344Pro) c.9785T>C (p.Leu3262Pro) c.5054T>C (p.Leu1685Pro) c.2804T>C (p.Leu935Pro) c.3767T>C (p.Leu1256Pro) | |
| 1 | g.197090216A>T | CA1308862 | ASPM | n.3096T>A c.9809T>A (p.Leu3270His) c.10031T>A (p.Leu3344His) c.9785T>A (p.Leu3262His) c.5054T>A (p.Leu1685His) c.2804T>A (p.Leu935His) c.3767T>A (p.Leu1256His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090217G>A | CA344001652 | ASPM | n.3095C>T c.9808C>T (p.Leu3270Phe) c.10030C>T (p.Leu3344Phe) c.9784C>T (p.Leu3262Phe) c.5053C>T (p.Leu1685Phe) c.2803C>T (p.Leu935Phe) c.3766C>T (p.Leu1256Phe) | |
| 1 | g.197090217G>C | CA344001654 | ASPM | n.3095C>G c.9808C>G (p.Leu3270Val) c.10030C>G (p.Leu3344Val) c.9784C>G (p.Leu3262Val) c.5053C>G (p.Leu1685Val) c.2803C>G (p.Leu935Val) c.3766C>G (p.Leu1256Val) | gnomAD v4 |
| 1 | g.197090217G>T | CA344001653 | ASPM | n.3095C>A c.9808C>A (p.Leu3270Ile) c.10030C>A (p.Leu3344Ile) c.9784C>A (p.Leu3262Ile) c.5053C>A (p.Leu1685Ile) c.2803C>A (p.Leu935Ile) c.3766C>A (p.Leu1256Ile) | |
| 1 | g.197090218A= | CA1217925136 | ASPM | n.3094T= c.9807T= (p.Ile3269=) c.10029T= (p.Ile3343=) c.9783T= (p.Ile3261=) c.5052T= (p.Ile1684=) c.2802T= (p.Ile934=) c.3765T= (p.Ile1255=) | |
| 1 | g.197090218A>C | CA344001655 | ASPM | n.3094T>G c.9807T>G (p.Ile3269Met) c.10029T>G (p.Ile3343Met) c.9783T>G (p.Ile3261Met) c.5052T>G (p.Ile1684Met) c.2802T>G (p.Ile934Met) c.3765T>G (p.Ile1255Met) | |
| 1 | g.197090218A>G | CA422805132 | ASPM | n.3094T>C c.9807T>C (p.Ile3269=) c.10029T>C (p.Ile3343=) c.9783T>C (p.Ile3261=) c.5052T>C (p.Ile1684=) c.2802T>C (p.Ile934=) c.3765T>C (p.Ile1255=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090218A>T | CA422805134 | ASPM | n.3094T>A c.9807T>A (p.Ile3269=) c.10029T>A (p.Ile3343=) c.9783T>A (p.Ile3261=) c.5052T>A (p.Ile1684=) c.2802T>A (p.Ile934=) c.3765T>A (p.Ile1255=) | |
| 1 | g.197090219A>C | CA344001658 | ASPM | n.3093T>G c.9806T>G (p.Ile3269Ser) c.10028T>G (p.Ile3343Ser) c.9782T>G (p.Ile3261Ser) c.5051T>G (p.Ile1684Ser) c.2801T>G (p.Ile934Ser) c.3764T>G (p.Ile1255Ser) | |
| 1 | g.197090219A>G | CA344001656 | ASPM | n.3093T>C c.9806T>C (p.Ile3269Thr) c.10028T>C (p.Ile3343Thr) c.9782T>C (p.Ile3261Thr) c.5051T>C (p.Ile1684Thr) c.2801T>C (p.Ile934Thr) c.3764T>C (p.Ile1255Thr) | |
| 1 | g.197090219A>T | CA344001657 | ASPM | n.3093T>A c.9806T>A (p.Ile3269Asn) c.10028T>A (p.Ile3343Asn) c.9782T>A (p.Ile3261Asn) c.5051T>A (p.Ile1684Asn) c.2801T>A (p.Ile934Asn) c.3764T>A (p.Ile1255Asn) | |
| 1 | g.197090220T>A | CA344001659 | ASPM | n.3092A>T c.9805A>T (p.Ile3269Phe) c.10027A>T (p.Ile3343Phe) c.9781A>T (p.Ile3261Phe) c.5050A>T (p.Ile1684Phe) c.2800A>T (p.Ile934Phe) c.3763A>T (p.Ile1255Phe) | |
| 1 | g.197090220T>C | CA1308863 | ASPM | n.3092A>G c.9805A>G (p.Ile3269Val) c.10027A>G (p.Ile3343Val) c.9781A>G (p.Ile3261Val) c.5050A>G (p.Ile1684Val) c.2800A>G (p.Ile934Val) c.3763A>G (p.Ile1255Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090220T>G | CA344001660 | ASPM | n.3092A>C c.9805A>C (p.Ile3269Leu) c.10027A>C (p.Ile3343Leu) c.9781A>C (p.Ile3261Leu) c.5050A>C (p.Ile1684Leu) c.2800A>C (p.Ile934Leu) c.3763A>C (p.Ile1255Leu) | |
| 1 | g.197090220T= | CA1217925141 | ASPM | n.3092A= c.9805A= (p.Ile3269=) c.10027A= (p.Ile3343=) c.9781A= (p.Ile3261=) c.5050A= (p.Ile1684=) c.2800A= (p.Ile934=) c.3763A= (p.Ile1255=) | |
| 1 | g.197090221G>A | CA1308864 | ASPM | n.3091C>T c.9804C>T (p.Ala3268=) c.10026C>T (p.Ala3342=) c.9780C>T (p.Ala3260=) c.5049C>T (p.Ala1683=) c.2799C>T (p.Ala933=) c.3762C>T (p.Ala1254=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090221G>C | CA422805140 | ASPM | n.3091C>G c.9804C>G (p.Ala3268=) c.10026C>G (p.Ala3342=) c.9780C>G (p.Ala3260=) c.5049C>G (p.Ala1683=) c.2799C>G (p.Ala933=) c.3762C>G (p.Ala1254=) | |
| 1 | g.197090221G= | CA1217925146 | ASPM | n.3091C= c.9804C= (p.Ala3268=) c.10026C= (p.Ala3342=) c.9780C= (p.Ala3260=) c.5049C= (p.Ala1683=) c.2799C= (p.Ala933=) c.3762C= (p.Ala1254=) | |
| 1 | g.197090221G>T | CA422805139 | ASPM | n.3091C>A c.9804C>A (p.Ala3268=) c.10026C>A (p.Ala3342=) c.9780C>A (p.Ala3260=) c.5049C>A (p.Ala1683=) c.2799C>A (p.Ala933=) c.3762C>A (p.Ala1254=) | |
| 1 | g.197090222del | CA2649660637 | ASPM | n.3091del c.9804del (p.Ile3269PhefsTer5) c.10026del (p.Ile3343PhefsTer5) c.9780del (p.Ile3261PhefsTer5) c.5049del (p.Ile1684PhefsTer5) c.2799del (p.Ile934PhefsTer5) c.3762del (p.Ile1255PhefsTer5) | gnomAD v4 |
| 1 | g.197090222G>A | CA344001663 | ASPM | n.3090C>T c.9803C>T (p.Ala3268Val) c.10025C>T (p.Ala3342Val) c.9779C>T (p.Ala3260Val) c.5048C>T (p.Ala1683Val) c.2798C>T (p.Ala933Val) c.3761C>T (p.Ala1254Val) | |
| 1 | g.197090222G>C | CA344001662 | ASPM | n.3090C>G c.9803C>G (p.Ala3268Gly) c.10025C>G (p.Ala3342Gly) c.9779C>G (p.Ala3260Gly) c.5048C>G (p.Ala1683Gly) c.2798C>G (p.Ala933Gly) c.3761C>G (p.Ala1254Gly) | |
| 1 | g.197090222G>T | CA344001661 | ASPM | n.3090C>A c.9803C>A (p.Ala3268Asp) c.10025C>A (p.Ala3342Asp) c.9779C>A (p.Ala3260Asp) c.5048C>A (p.Ala1683Asp) c.2798C>A (p.Ala933Asp) c.3761C>A (p.Ala1254Asp) | |
| 1 | g.197090223C>A | CA344001664 | ASPM | n.3089G>T c.9802G>T (p.Ala3268Ser) c.10024G>T (p.Ala3342Ser) c.9778G>T (p.Ala3260Ser) c.5047G>T (p.Ala1683Ser) c.2797G>T (p.Ala933Ser) c.3760G>T (p.Ala1254Ser) | |
| 1 | g.197090223C>G | CA344001665 | ASPM | n.3089G>C c.9802G>C (p.Ala3268Pro) c.10024G>C (p.Ala3342Pro) c.9778G>C (p.Ala3260Pro) c.5047G>C (p.Ala1683Pro) c.2797G>C (p.Ala933Pro) c.3760G>C (p.Ala1254Pro) | |
| 1 | g.197090223C>T | CA344001666 | ASPM | n.3089G>A c.9802G>A (p.Ala3268Thr) c.10024G>A (p.Ala3342Thr) c.9778G>A (p.Ala3260Thr) c.5047G>A (p.Ala1683Thr) c.2797G>A (p.Ala933Thr) c.3760G>A (p.Ala1254Thr) | |
| 1 | g.197090224A>C | CA422805149 | ASPM | n.3088T>G c.9801T>G (p.Ser3267=) c.10023T>G (p.Ser3341=) c.9777T>G (p.Ser3259=) c.5046T>G (p.Ser1682=) c.2796T>G (p.Ser932=) c.3759T>G (p.Ser1253=) | |
| 1 | g.197090224A>G | CA422805146 | ASPM | n.3088T>C c.9801T>C (p.Ser3267=) c.10023T>C (p.Ser3341=) c.9777T>C (p.Ser3259=) c.5046T>C (p.Ser1682=) c.2796T>C (p.Ser932=) c.3759T>C (p.Ser1253=) | |
| 1 | g.197090224A>T | CA422805143 | ASPM | n.3088T>A c.9801T>A (p.Ser3267=) c.10023T>A (p.Ser3341=) c.9777T>A (p.Ser3259=) c.5046T>A (p.Ser1682=) c.2796T>A (p.Ser932=) c.3759T>A (p.Ser1253=) | |
| 1 | g.197090225G>A | CA344001667 | ASPM | n.3087C>T c.9800C>T (p.Ser3267Phe) c.10022C>T (p.Ser3341Phe) c.9776C>T (p.Ser3259Phe) c.5045C>T (p.Ser1682Phe) c.2795C>T (p.Ser932Phe) c.3758C>T (p.Ser1253Phe) | |
| 1 | g.197090225G>C | CA344001668 | ASPM | n.3087C>G c.9800C>G (p.Ser3267Cys) c.10022C>G (p.Ser3341Cys) c.9776C>G (p.Ser3259Cys) c.5045C>G (p.Ser1682Cys) c.2795C>G (p.Ser932Cys) c.3758C>G (p.Ser1253Cys) | |
| 1 | g.197090225G>T | CA344001669 | ASPM | n.3087C>A c.9800C>A (p.Ser3267Tyr) c.10022C>A (p.Ser3341Tyr) c.9776C>A (p.Ser3259Tyr) c.5045C>A (p.Ser1682Tyr) c.2795C>A (p.Ser932Tyr) c.3758C>A (p.Ser1253Tyr) | |
| 1 | g.197090226A>C | CA344001670 | ASPM | n.3086T>G c.9799T>G (p.Ser3267Ala) c.10021T>G (p.Ser3341Ala) c.9775T>G (p.Ser3259Ala) c.5044T>G (p.Ser1682Ala) c.2794T>G (p.Ser932Ala) c.3757T>G (p.Ser1253Ala) | |
| 1 | g.197090226A>G | CA344001672 | ASPM | n.3086T>C c.9799T>C (p.Ser3267Pro) c.10021T>C (p.Ser3341Pro) c.9775T>C (p.Ser3259Pro) c.5044T>C (p.Ser1682Pro) c.2794T>C (p.Ser932Pro) c.3757T>C (p.Ser1253Pro) | |
| 1 | g.197090226A>T | CA344001671 | ASPM | n.3086T>A c.9799T>A (p.Ser3267Thr) c.10021T>A (p.Ser3341Thr) c.9775T>A (p.Ser3259Thr) c.5044T>A (p.Ser1682Thr) c.2794T>A (p.Ser932Thr) c.3757T>A (p.Ser1253Thr) | |
| 1 | g.197090227A>C | CA422805155 | ASPM | n.3085T>G c.9798T>G (p.Leu3266=) c.10020T>G (p.Leu3340=) c.9774T>G (p.Leu3258=) c.5043T>G (p.Leu1681=) c.2793T>G (p.Leu931=) c.3756T>G (p.Leu1252=) | |
| 1 | g.197090227A>G | CA422805159 | ASPM | n.3085T>C c.9798T>C (p.Leu3266=) c.10020T>C (p.Leu3340=) c.9774T>C (p.Leu3258=) c.5043T>C (p.Leu1681=) c.2793T>C (p.Leu931=) c.3756T>C (p.Leu1252=) | |
| 1 | g.197090227A>T | CA422805157 | ASPM | n.3085T>A c.9798T>A (p.Leu3266=) c.10020T>A (p.Leu3340=) c.9774T>A (p.Leu3258=) c.5043T>A (p.Leu1681=) c.2793T>A (p.Leu931=) c.3756T>A (p.Leu1252=) | |
| 1 | g.197090228A>C | CA344001673 | ASPM | n.3084T>G c.9797T>G (p.Leu3266Arg) c.10019T>G (p.Leu3340Arg) c.9773T>G (p.Leu3258Arg) c.5042T>G (p.Leu1681Arg) c.2792T>G (p.Leu931Arg) c.3755T>G (p.Leu1252Arg) | |
| 1 | g.197090228A>G | CA344001674 | ASPM | n.3084T>C c.9797T>C (p.Leu3266Pro) c.10019T>C (p.Leu3340Pro) c.9773T>C (p.Leu3258Pro) c.5042T>C (p.Leu1681Pro) c.2792T>C (p.Leu931Pro) c.3755T>C (p.Leu1252Pro) | |
| 1 | g.197090228A>T | CA344001675 | ASPM | n.3084T>A c.9797T>A (p.Leu3266His) c.10019T>A (p.Leu3340His) c.9773T>A (p.Leu3258His) c.5042T>A (p.Leu1681His) c.2792T>A (p.Leu931His) c.3755T>A (p.Leu1252His) | |
| 1 | g.197090229G>A | CA344001676 | ASPM | n.3083C>T c.9796C>T (p.Leu3266Phe) c.10018C>T (p.Leu3340Phe) c.9772C>T (p.Leu3258Phe) c.5041C>T (p.Leu1681Phe) c.2791C>T (p.Leu931Phe) c.3754C>T (p.Leu1252Phe) | |
| 1 | g.197090229G>C | CA344001677 | ASPM | n.3083C>G c.9796C>G (p.Leu3266Val) c.10018C>G (p.Leu3340Val) c.9772C>G (p.Leu3258Val) c.5041C>G (p.Leu1681Val) c.2791C>G (p.Leu931Val) c.3754C>G (p.Leu1252Val) | |
| 1 | g.197090229G= | CA1217925149 | ASPM | n.3083C= c.9796C= (p.Leu3266=) c.10018C= (p.Leu3340=) c.9772C= (p.Leu3258=) c.5041C= (p.Leu1681=) c.2791C= (p.Leu931=) c.3754C= (p.Leu1252=) | |
| 1 | g.197090229G>T | CA344001678 | ASPM | n.3083C>A c.9796C>A (p.Leu3266Ile) c.10018C>A (p.Leu3340Ile) c.9772C>A (p.Leu3258Ile) c.5041C>A (p.Leu1681Ile) c.2791C>A (p.Leu931Ile) c.3754C>A (p.Leu1252Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090230G>A | CA422805168 | ASPM | n.3082C>T c.9795C>T (p.His3265=) c.10017C>T (p.His3339=) c.9771C>T (p.His3257=) c.5040C>T (p.His1680=) c.2790C>T (p.His930=) c.3753C>T (p.His1251=) | |
| 1 | g.197090230G>C | CA344001679 | ASPM | n.3082C>G c.9795C>G (p.His3265Gln) c.10017C>G (p.His3339Gln) c.9771C>G (p.His3257Gln) c.5040C>G (p.His1680Gln) c.2790C>G (p.His930Gln) c.3753C>G (p.His1251Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090230G= | CA1217925152 | ASPM | n.3082C= c.9795C= (p.His3265=) c.10017C= (p.His3339=) c.9771C= (p.His3257=) c.5040C= (p.His1680=) c.2790C= (p.His930=) c.3753C= (p.His1251=) | |
| 1 | g.197090230G>T | CA344001680 | ASPM | n.3082C>A c.9795C>A (p.His3265Gln) c.10017C>A (p.His3339Gln) c.9771C>A (p.His3257Gln) c.5040C>A (p.His1680Gln) c.2790C>A (p.His930Gln) c.3753C>A (p.His1251Gln) | gnomAD v4 |
| 1 | g.197090231T>A | CA344001681 | ASPM | n.3081A>T c.9794A>T (p.His3265Leu) c.10016A>T (p.His3339Leu) c.9770A>T (p.His3257Leu) c.5039A>T (p.His1680Leu) c.2789A>T (p.His930Leu) c.3752A>T (p.His1251Leu) | |
| 1 | g.197090231T>C | CA344001682 | ASPM | n.3081A>G c.9794A>G (p.His3265Arg) c.10016A>G (p.His3339Arg) c.9770A>G (p.His3257Arg) c.5039A>G (p.His1680Arg) c.2789A>G (p.His930Arg) c.3752A>G (p.His1251Arg) | |
| 1 | g.197090231T>G | CA344001683 | ASPM | n.3081A>C c.9794A>C (p.His3265Pro) c.10016A>C (p.His3339Pro) c.9770A>C (p.His3257Pro) c.5039A>C (p.His1680Pro) c.2789A>C (p.His930Pro) c.3752A>C (p.His1251Pro) | |
| 1 | g.197090232G>A | CA344001684 | ASPM | n.3080C>T c.9793C>T (p.His3265Tyr) c.10015C>T (p.His3339Tyr) c.9769C>T (p.His3257Tyr) c.5038C>T (p.His1680Tyr) c.2788C>T (p.His930Tyr) c.3751C>T (p.His1251Tyr) | |
| 1 | g.197090232G>C | CA344001686 | ASPM | n.3080C>G c.9793C>G (p.His3265Asp) c.10015C>G (p.His3339Asp) c.9769C>G (p.His3257Asp) c.5038C>G (p.His1680Asp) c.2788C>G (p.His930Asp) c.3751C>G (p.His1251Asp) | |
| 1 | g.197090232G>T | CA344001685 | ASPM | n.3080C>A c.9793C>A (p.His3265Asn) c.10015C>A (p.His3339Asn) c.9769C>A (p.His3257Asn) c.5038C>A (p.His1680Asn) c.2788C>A (p.His930Asn) c.3751C>A (p.His1251Asn) | |
| 1 | g.197090233C>A | CA344001687 | ASPM | n.3079G>T c.9792G>T (p.Lys3264Asn) c.10014G>T (p.Lys3338Asn) c.9768G>T (p.Lys3256Asn) c.5037G>T (p.Lys1679Asn) c.2787G>T (p.Lys929Asn) c.3750G>T (p.Lys1250Asn) | |
| 1 | g.197090233C>G | CA344001688 | ASPM | n.3079G>C c.9792G>C (p.Lys3264Asn) c.10014G>C (p.Lys3338Asn) c.9768G>C (p.Lys3256Asn) c.5037G>C (p.Lys1679Asn) c.2787G>C (p.Lys929Asn) c.3750G>C (p.Lys1250Asn) | |
| 1 | g.197090233C>T | CA422805187 | ASPM | n.3079G>A c.9792G>A (p.Lys3264=) c.10014G>A (p.Lys3338=) c.9768G>A (p.Lys3256=) c.5037G>A (p.Lys1679=) c.2787G>A (p.Lys929=) c.3750G>A (p.Lys1250=) | gnomAD v4 |
| 1 | g.197090234T>A | CA344001689 | ASPM | n.3078A>T c.9791A>T (p.Lys3264Met) c.10013A>T (p.Lys3338Met) c.9767A>T (p.Lys3256Met) c.5036A>T (p.Lys1679Met) c.2786A>T (p.Lys929Met) c.3749A>T (p.Lys1250Met) | |
| 1 | g.197090234T>C | CA344001690 | ASPM | n.3078A>G c.9791A>G (p.Lys3264Arg) c.10013A>G (p.Lys3338Arg) c.9767A>G (p.Lys3256Arg) c.5036A>G (p.Lys1679Arg) c.2786A>G (p.Lys929Arg) c.3749A>G (p.Lys1250Arg) | |
| 1 | g.197090234T>G | CA344001691 | ASPM | n.3078A>C c.9791A>C (p.Lys3264Thr) c.10013A>C (p.Lys3338Thr) c.9767A>C (p.Lys3256Thr) c.5036A>C (p.Lys1679Thr) c.2786A>C (p.Lys929Thr) c.3749A>C (p.Lys1250Thr) | |
| 1 | g.197090235T>A | CA344001692 | ASPM | n.3077A>T c.9790A>T (p.Lys3264Ter) c.10012A>T (p.Lys3338Ter) c.9766A>T (p.Lys3256Ter) c.5035A>T (p.Lys1679Ter) c.2785A>T (p.Lys929Ter) c.3748A>T (p.Lys1250Ter) | |
| 1 | g.197090235T>C | CA344001693 | ASPM | n.3077A>G c.9790A>G (p.Lys3264Glu) c.10012A>G (p.Lys3338Glu) c.9766A>G (p.Lys3256Glu) c.5035A>G (p.Lys1679Glu) c.2785A>G (p.Lys929Glu) c.3748A>G (p.Lys1250Glu) | gnomAD v4 |
| 1 | g.197090235T>G | CA344001694 | ASPM | n.3077A>C c.9790A>C (p.Lys3264Gln) c.10012A>C (p.Lys3338Gln) c.9766A>C (p.Lys3256Gln) c.5035A>C (p.Lys1679Gln) c.2785A>C (p.Lys929Gln) c.3748A>C (p.Lys1250Gln) | |
| 1 | g.197090236A= | CA1143355782 | ASPM | n.3076T= c.9789T= (p.Tyr3263=) c.10011T= (p.Tyr3337=) c.9765T= (p.Tyr3255=) c.5034T= (p.Tyr1678=) c.2784T= (p.Tyr928=) c.3747T= (p.Tyr1249=) | |
| 1 | g.197090236A>C | CA344001695 | ASPM | n.3076T>G c.9789T>G (p.Tyr3263Ter) c.10011T>G (p.Tyr3337Ter) c.9765T>G (p.Tyr3255Ter) c.5034T>G (p.Tyr1678Ter) c.2784T>G (p.Tyr928Ter) c.3747T>G (p.Tyr1249Ter) | ClinVar dbSNP |
| 1 | g.197090236A>G | CA35861944 | ASPM | n.3076T>C c.9789T>C (p.Tyr3263=) c.10011T>C (p.Tyr3337=) c.9765T>C (p.Tyr3255=) c.5034T>C (p.Tyr1678=) c.2784T>C (p.Tyr928=) c.3747T>C (p.Tyr1249=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197090236A>T | CA342313 | ASPM | n.3076T>A c.9789T>A (p.Tyr3263Ter) c.10011T>A (p.Tyr3337Ter) c.9765T>A (p.Tyr3255Ter) c.5034T>A (p.Tyr1678Ter) c.2784T>A (p.Tyr928Ter) c.3747T>A (p.Tyr1249Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197090237T>A | CA344001696 | ASPM | n.3075A>T c.9788A>T (p.Tyr3263Phe) c.10010A>T (p.Tyr3337Phe) c.9764A>T (p.Tyr3255Phe) c.5033A>T (p.Tyr1678Phe) c.2783A>T (p.Tyr928Phe) c.3746A>T (p.Tyr1249Phe) | |
| 1 | g.197090237T>C | CA344001697 | ASPM | n.3075A>G c.9788A>G (p.Tyr3263Cys) c.10010A>G (p.Tyr3337Cys) c.9764A>G (p.Tyr3255Cys) c.5033A>G (p.Tyr1678Cys) c.2783A>G (p.Tyr928Cys) c.3746A>G (p.Tyr1249Cys) | |
| 1 | g.197090237T>G | CA344001698 | ASPM | n.3075A>C c.9788A>C (p.Tyr3263Ser) c.10010A>C (p.Tyr3337Ser) c.9764A>C (p.Tyr3255Ser) c.5033A>C (p.Tyr1678Ser) c.2783A>C (p.Tyr928Ser) c.3746A>C (p.Tyr1249Ser) | |
| 1 | g.197090238A>C | CA344001699 | ASPM | n.3074T>G c.9787T>G (p.Tyr3263Asp) c.10009T>G (p.Tyr3337Asp) c.9763T>G (p.Tyr3255Asp) c.5032T>G (p.Tyr1678Asp) c.2782T>G (p.Tyr928Asp) c.3745T>G (p.Tyr1249Asp) | gnomAD v4 |
| 1 | g.197090238A>G | CA344001701 | ASPM | n.3074T>C c.9787T>C (p.Tyr3263His) c.10009T>C (p.Tyr3337His) c.9763T>C (p.Tyr3255His) c.5032T>C (p.Tyr1678His) c.2782T>C (p.Tyr928His) c.3745T>C (p.Tyr1249His) | gnomAD v4 |
| 1 | g.197090238A>T | CA344001700 | ASPM | n.3074T>A c.9787T>A (p.Tyr3263Asn) c.10009T>A (p.Tyr3337Asn) c.9763T>A (p.Tyr3255Asn) c.5032T>A (p.Tyr1678Asn) c.2782T>A (p.Tyr928Asn) c.3745T>A (p.Tyr1249Asn) | COSMIC |
| 1 | g.197090239T>A | CA422805218 | ASPM | n.3073A>T c.9786A>T (p.Thr3262=) c.10008A>T (p.Thr3336=) c.9762A>T (p.Thr3254=) c.5031A>T (p.Thr1677=) c.2781A>T (p.Thr927=) c.3744A>T (p.Thr1248=) | |
| 1 | g.197090239T>C | CA422805223 | ASPM | n.3073A>G c.9786A>G (p.Thr3262=) c.10008A>G (p.Thr3336=) c.9762A>G (p.Thr3254=) c.5031A>G (p.Thr1677=) c.2781A>G (p.Thr927=) c.3744A>G (p.Thr1248=) | gnomAD v4 |
| 1 | g.197090239T>G | CA422805224 | ASPM | n.3073A>C c.9786A>C (p.Thr3262=) c.10008A>C (p.Thr3336=) c.9762A>C (p.Thr3254=) c.5031A>C (p.Thr1677=) c.2781A>C (p.Thr927=) c.3744A>C (p.Thr1248=) | |
| 1 | g.197090240G>A | CA344001702 | ASPM | n.3072C>T c.9785C>T (p.Thr3262Ile) c.10007C>T (p.Thr3336Ile) c.9761C>T (p.Thr3254Ile) c.5030C>T (p.Thr1677Ile) c.2780C>T (p.Thr927Ile) c.3743C>T (p.Thr1248Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090240G>C | CA344001703 | ASPM | n.3072C>G c.9785C>G (p.Thr3262Arg) c.10007C>G (p.Thr3336Arg) c.9761C>G (p.Thr3254Arg) c.5030C>G (p.Thr1677Arg) c.2780C>G (p.Thr927Arg) c.3743C>G (p.Thr1248Arg) | |
| 1 | g.197090240G= | CA1217925159 | ASPM | n.3072C= c.9785C= (p.Thr3262=) c.10007C= (p.Thr3336=) c.9761C= (p.Thr3254=) c.5030C= (p.Thr1677=) c.2780C= (p.Thr927=) c.3743C= (p.Thr1248=) | |
| 1 | g.197090240G>T | CA344001704 | ASPM | n.3072C>A c.9785C>A (p.Thr3262Lys) c.10007C>A (p.Thr3336Lys) c.9761C>A (p.Thr3254Lys) c.5030C>A (p.Thr1677Lys) c.2780C>A (p.Thr927Lys) c.3743C>A (p.Thr1248Lys) | |
| 1 | g.197090241T>A | CA344001705 | ASPM | n.3071A>T c.9784A>T (p.Thr3262Ser) c.10006A>T (p.Thr3336Ser) c.9760A>T (p.Thr3254Ser) c.5029A>T (p.Thr1677Ser) c.2779A>T (p.Thr927Ser) c.3742A>T (p.Thr1248Ser) | gnomAD v4 |
| 1 | g.197090241T>C | CA344001706 | ASPM | n.3071A>G c.9784A>G (p.Thr3262Ala) c.10006A>G (p.Thr3336Ala) c.9760A>G (p.Thr3254Ala) c.5029A>G (p.Thr1677Ala) c.2779A>G (p.Thr927Ala) c.3742A>G (p.Thr1248Ala) | |
| 1 | g.197090241T>G | CA344001707 | ASPM | n.3071A>C c.9784A>C (p.Thr3262Pro) c.10006A>C (p.Thr3336Pro) c.9760A>C (p.Thr3254Pro) c.5029A>C (p.Thr1677Pro) c.2779A>C (p.Thr927Pro) c.3742A>C (p.Thr1248Pro) | |
| 1 | g.197090242C>A | CA344001708 | ASPM | n.3070G>T c.9783G>T (p.Leu3261Phe) c.10005G>T (p.Leu3335Phe) c.9759G>T (p.Leu3253Phe) c.5028G>T (p.Leu1676Phe) c.2778G>T (p.Leu926Phe) c.3741G>T (p.Leu1247Phe) | |
| 1 | g.197090242C>G | CA344001709 | ASPM | n.3070G>C c.9783G>C (p.Leu3261Phe) c.10005G>C (p.Leu3335Phe) c.9759G>C (p.Leu3253Phe) c.5028G>C (p.Leu1676Phe) c.2778G>C (p.Leu926Phe) c.3741G>C (p.Leu1247Phe) | gnomAD v4 |
| 1 | g.197090242C>T | CA422805235 | ASPM | n.3070G>A c.9783G>A (p.Leu3261=) c.10005G>A (p.Leu3335=) c.9759G>A (p.Leu3253=) c.5028G>A (p.Leu1676=) c.2778G>A (p.Leu926=) c.3741G>A (p.Leu1247=) | |
| 1 | g.197090243A>C | CA344001710 | ASPM | n.3069T>G c.9782T>G (p.Leu3261Trp) c.10004T>G (p.Leu3335Trp) c.9758T>G (p.Leu3253Trp) c.5027T>G (p.Leu1676Trp) c.2777T>G (p.Leu926Trp) c.3740T>G (p.Leu1247Trp) | |
| 1 | g.197090243A>G | CA344001711 | ASPM | n.3069T>C c.9782T>C (p.Leu3261Ser) c.10004T>C (p.Leu3335Ser) c.9758T>C (p.Leu3253Ser) c.5027T>C (p.Leu1676Ser) c.2777T>C (p.Leu926Ser) c.3740T>C (p.Leu1247Ser) | |
| 1 | g.197090243A>T | CA344001712 | ASPM | n.3069T>A c.9782T>A (p.Leu3261Ter) c.10004T>A (p.Leu3335Ter) c.9758T>A (p.Leu3253Ter) c.5027T>A (p.Leu1676Ter) c.2777T>A (p.Leu926Ter) c.3740T>A (p.Leu1247Ter) | |
| 1 | g.197090244A= | CA1149113437 | ASPM | n.3068T= c.9781T= (p.Leu3261=) c.10003T= (p.Leu3335=) c.9757T= (p.Leu3253=) c.5026T= (p.Leu1676=) c.2776T= (p.Leu926=) c.3739T= (p.Leu1247=) | |
| 1 | g.197090244A>C | CA1308865 | ASPM | n.3068T>G c.9781T>G (p.Leu3261Val) c.10003T>G (p.Leu3335Val) c.9757T>G (p.Leu3253Val) c.5026T>G (p.Leu1676Val) c.2776T>G (p.Leu926Val) c.3739T>G (p.Leu1247Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090244A>G | CA422805243 | ASPM | n.3068T>C c.9781T>C (p.Leu3261=) c.10003T>C (p.Leu3335=) c.9757T>C (p.Leu3253=) c.5026T>C (p.Leu1676=) c.2776T>C (p.Leu926=) c.3739T>C (p.Leu1247=) | |
| 1 | g.197090244A>T | CA344001713 | ASPM | n.3068T>A c.9781T>A (p.Leu3261Met) c.10003T>A (p.Leu3335Met) c.9757T>A (p.Leu3253Met) c.5026T>A (p.Leu1676Met) c.2776T>A (p.Leu926Met) c.3739T>A (p.Leu1247Met) | |
| 1 | g.197090245A= | CA1217925164 | ASPM | n.3067T= c.9780T= (p.Leu3260=) c.10002T= (p.Leu3334=) c.9756T= (p.Leu3252=) c.5025T= (p.Leu1675=) c.2775T= (p.Leu925=) c.3738T= (p.Leu1246=) | |
| 1 | g.197090245A>C | CA422805244 | ASPM | n.3067T>G c.9780T>G (p.Leu3260=) c.10002T>G (p.Leu3334=) c.9756T>G (p.Leu3252=) c.5025T>G (p.Leu1675=) c.2775T>G (p.Leu925=) c.3738T>G (p.Leu1246=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090245A>G | CA422805245 | ASPM | n.3067T>C c.9780T>C (p.Leu3260=) c.10002T>C (p.Leu3334=) c.9756T>C (p.Leu3252=) c.5025T>C (p.Leu1675=) c.2775T>C (p.Leu925=) c.3738T>C (p.Leu1246=) | |
| 1 | g.197090245A>T | CA422805247 | ASPM | n.3067T>A c.9780T>A (p.Leu3260=) c.10002T>A (p.Leu3334=) c.9756T>A (p.Leu3252=) c.5025T>A (p.Leu1675=) c.2775T>A (p.Leu925=) c.3738T>A (p.Leu1246=) | |
| 1 | g.197090246A>C | CA344001714 | ASPM | n.3066T>G c.9779T>G (p.Leu3260Arg) c.10001T>G (p.Leu3334Arg) c.9755T>G (p.Leu3252Arg) c.5024T>G (p.Leu1675Arg) c.2774T>G (p.Leu925Arg) c.3737T>G (p.Leu1246Arg) | |
| 1 | g.197090246A>G | CA344001716 | ASPM | n.3066T>C c.9779T>C (p.Leu3260Pro) c.10001T>C (p.Leu3334Pro) c.9755T>C (p.Leu3252Pro) c.5024T>C (p.Leu1675Pro) c.2774T>C (p.Leu925Pro) c.3737T>C (p.Leu1246Pro) | |
| 1 | g.197090246A>T | CA344001715 | ASPM | n.3066T>A c.9779T>A (p.Leu3260His) c.10001T>A (p.Leu3334His) c.9755T>A (p.Leu3252His) c.5024T>A (p.Leu1675His) c.2774T>A (p.Leu925His) c.3737T>A (p.Leu1246His) | |
| 1 | g.197090247G>A | CA344001717 | ASPM | n.3065C>T c.9778C>T (p.Leu3260Phe) c.10000C>T (p.Leu3334Phe) c.9754C>T (p.Leu3252Phe) c.5023C>T (p.Leu1675Phe) c.2773C>T (p.Leu925Phe) c.3736C>T (p.Leu1246Phe) | gnomAD v4 |
| 1 | g.197090247G>C | CA344001718 | ASPM | n.3065C>G c.9778C>G (p.Leu3260Val) c.10000C>G (p.Leu3334Val) c.9754C>G (p.Leu3252Val) c.5023C>G (p.Leu1675Val) c.2773C>G (p.Leu925Val) c.3736C>G (p.Leu1246Val) | |
| 1 | g.197090247G>T | CA344001719 | ASPM | n.3065C>A c.9778C>A (p.Leu3260Ile) c.10000C>A (p.Leu3334Ile) c.9754C>A (p.Leu3252Ile) c.5023C>A (p.Leu1675Ile) c.2773C>A (p.Leu925Ile) c.3736C>A (p.Leu1246Ile) | |
| 1 | g.197090248G>A | CA422805251 | ASPM | n.3064C>T c.9777C>T (p.Tyr3259=) c.9999C>T (p.Tyr3333=) c.9753C>T (p.Tyr3251=) c.5022C>T (p.Tyr1674=) c.2772C>T (p.Tyr924=) c.3735C>T (p.Tyr1245=) | |
| 1 | g.197090248G>C | CA344001720 | ASPM | n.3064C>G c.9777C>G (p.Tyr3259Ter) c.9999C>G (p.Tyr3333Ter) c.9753C>G (p.Tyr3251Ter) c.5022C>G (p.Tyr1674Ter) c.2772C>G (p.Tyr924Ter) c.3735C>G (p.Tyr1245Ter) | |
| 1 | g.197090248G>T | CA344001721 | ASPM | n.3064C>A c.9777C>A (p.Tyr3259Ter) c.9999C>A (p.Tyr3333Ter) c.9753C>A (p.Tyr3251Ter) c.5022C>A (p.Tyr1674Ter) c.2772C>A (p.Tyr924Ter) c.3735C>A (p.Tyr1245Ter) | |
| 1 | g.197090249T>A | CA344001722 | ASPM | n.3063A>T c.9776A>T (p.Tyr3259Phe) c.9998A>T (p.Tyr3333Phe) c.9752A>T (p.Tyr3251Phe) c.5021A>T (p.Tyr1674Phe) c.2771A>T (p.Tyr924Phe) c.3734A>T (p.Tyr1245Phe) | |
| 1 | g.197090249T>C | CA35861945 | ASPM | n.3063A>G c.9776A>G (p.Tyr3259Cys) c.9998A>G (p.Tyr3333Cys) c.9752A>G (p.Tyr3251Cys) c.5021A>G (p.Tyr1674Cys) c.2771A>G (p.Tyr924Cys) c.3734A>G (p.Tyr1245Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197090249T>G | CA344001723 | ASPM | n.3063A>C c.9776A>C (p.Tyr3259Ser) c.9998A>C (p.Tyr3333Ser) c.9752A>C (p.Tyr3251Ser) c.5021A>C (p.Tyr1674Ser) c.2771A>C (p.Tyr924Ser) c.3734A>C (p.Tyr1245Ser) | |
| 1 | g.197090249T= | CA1217925166 | ASPM | n.3063A= c.9776A= (p.Tyr3259=) c.9998A= (p.Tyr3333=) c.9752A= (p.Tyr3251=) c.5021A= (p.Tyr1674=) c.2771A= (p.Tyr924=) c.3734A= (p.Tyr1245=) | |
| 1 | g.197090250A>C | CA344001724 | ASPM | n.3062T>G c.9775T>G (p.Tyr3259Asp) c.9997T>G (p.Tyr3333Asp) c.9751T>G (p.Tyr3251Asp) c.5020T>G (p.Tyr1674Asp) c.2770T>G (p.Tyr924Asp) c.3733T>G (p.Tyr1245Asp) | |
| 1 | g.197090250A>G | CA344001725 | ASPM | n.3062T>C c.9775T>C (p.Tyr3259His) c.9997T>C (p.Tyr3333His) c.9751T>C (p.Tyr3251His) c.5020T>C (p.Tyr1674His) c.2770T>C (p.Tyr924His) c.3733T>C (p.Tyr1245His) | |
| 1 | g.197090250A>T | CA344001726 | ASPM | n.3062T>A c.9775T>A (p.Tyr3259Asn) c.9997T>A (p.Tyr3333Asn) c.9751T>A (p.Tyr3251Asn) c.5020T>A (p.Tyr1674Asn) c.2770T>A (p.Tyr924Asn) c.3733T>A (p.Tyr1245Asn) | |
| 1 | g.197090250_197090251insGTTTTTCATTTT | CA2558727805 | ASPM | n.3061_3062insAAAATGAAAAAC c.9774_9775insAAAATGAAAAAC (p.His3258_Tyr3259insLysMetLysAsn) c.9996_9997insAAAATGAAAAAC (p.His3332_Tyr3333insLysMetLysAsn) c.9750_9751insAAAATGAAAAAC (p.His3250_Tyr3251insLysMetLysAsn) c.5019_5020insAAAATGAAAAAC (p.His1673_Tyr1674insLysMetLysAsn) c.2769_2770insAAAATGAAAAAC (p.His923_Tyr924insLysMetLysAsn) c.3732_3733insAAAATGAAAAAC (p.His1244_Tyr1245insLysMetLysAsn) | |
| 1 | g.197090251A>C | CA344001727 | ASPM | n.3061T>G c.9774T>G (p.His3258Gln) c.9996T>G (p.His3332Gln) c.9750T>G (p.His3250Gln) c.5019T>G (p.His1673Gln) c.2769T>G (p.His923Gln) c.3732T>G (p.His1244Gln) | |
| 1 | g.197090251A>G | CA422805260 | ASPM | n.3061T>C c.9774T>C (p.His3258=) c.9996T>C (p.His3332=) c.9750T>C (p.His3250=) c.5019T>C (p.His1673=) c.2769T>C (p.His923=) c.3732T>C (p.His1244=) | gnomAD v4 |
| 1 | g.197090251A>T | CA344001728 | ASPM | n.3061T>A c.9774T>A (p.His3258Gln) c.9996T>A (p.His3332Gln) c.9750T>A (p.His3250Gln) c.5019T>A (p.His1673Gln) c.2769T>A (p.His923Gln) c.3732T>A (p.His1244Gln) | COSMIC |
| 1 | g.197090252T>A | CA344001729 | ASPM | n.3060A>T c.9773A>T (p.His3258Leu) c.9995A>T (p.His3332Leu) c.9749A>T (p.His3250Leu) c.5018A>T (p.His1673Leu) c.2768A>T (p.His923Leu) c.3731A>T (p.His1244Leu) | |
| 1 | g.197090252T>C | CA171281 | ASPM | n.3060A>G c.9773A>G (p.His3258Arg) c.9995A>G (p.His3332Arg) c.9749A>G (p.His3250Arg) c.5018A>G (p.His1673Arg) c.2768A>G (p.His923Arg) c.3731A>G (p.His1244Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090252T>G | CA35861951 | ASPM | n.3060A>C c.9773A>C (p.His3258Pro) c.9995A>C (p.His3332Pro) c.9749A>C (p.His3250Pro) c.5018A>C (p.His1673Pro) c.2768A>C (p.His923Pro) c.3731A>C (p.His1244Pro) | dbSNP |
| 1 | g.197090252T= | CA1140137432 | ASPM | n.3060A= c.9773A= (p.His3258=) c.9995A= (p.His3332=) c.9749A= (p.His3250=) c.5018A= (p.His1673=) c.2768A= (p.His923=) c.3731A= (p.His1244=) | |
| 1 | g.197090253G>A | CA344001730 | ASPM | n.3059C>T c.9772C>T (p.His3258Tyr) c.9994C>T (p.His3332Tyr) c.9748C>T (p.His3250Tyr) c.5017C>T (p.His1673Tyr) c.2767C>T (p.His923Tyr) c.3730C>T (p.His1244Tyr) | dbSNP gnomAD v4 |
| 1 | g.197090253G>C | CA344001731 | ASPM | n.3059C>G c.9772C>G (p.His3258Asp) c.9994C>G (p.His3332Asp) c.9748C>G (p.His3250Asp) c.5017C>G (p.His1673Asp) c.2767C>G (p.His923Asp) c.3730C>G (p.His1244Asp) | |
| 1 | g.197090253G= | CA1217925176 | ASPM | n.3059C= c.9772C= (p.His3258=) c.9994C= (p.His3332=) c.9748C= (p.His3250=) c.5017C= (p.His1673=) c.2767C= (p.His923=) c.3730C= (p.His1244=) | |
| 1 | g.197090253G>T | CA344001732 | ASPM | n.3059C>A c.9772C>A (p.His3258Asn) c.9994C>A (p.His3332Asn) c.9748C>A (p.His3250Asn) c.5017C>A (p.His1673Asn) c.2767C>A (p.His923Asn) c.3730C>A (p.His1244Asn) | gnomAD v3 gnomAD v4 |
| 1 | g.197090254A>C | CA422805272 | ASPM | n.3058T>G c.9771T>G (p.Leu3257=) c.9993T>G (p.Leu3331=) c.9747T>G (p.Leu3249=) c.5016T>G (p.Leu1672=) c.2766T>G (p.Leu922=) c.3729T>G (p.Leu1243=) | |
| 1 | g.197090254A>G | CA422805267 | ASPM | n.3058T>C c.9771T>C (p.Leu3257=) c.9993T>C (p.Leu3331=) c.9747T>C (p.Leu3249=) c.5016T>C (p.Leu1672=) c.2766T>C (p.Leu922=) c.3729T>C (p.Leu1243=) | |
| 1 | g.197090254A>T | CA422805269 | ASPM | n.3058T>A c.9771T>A (p.Leu3257=) c.9993T>A (p.Leu3331=) c.9747T>A (p.Leu3249=) c.5016T>A (p.Leu1672=) c.2766T>A (p.Leu922=) c.3729T>A (p.Leu1243=) | |
| 1 | g.197090255A= | CA1217925177 | ASPM | n.3057T= c.9770T= (p.Leu3257=) c.9992T= (p.Leu3331=) c.9746T= (p.Leu3249=) c.5015T= (p.Leu1672=) c.2765T= (p.Leu922=) c.3728T= (p.Leu1243=) | |
| 1 | g.197090255A>C | CA344001733 | ASPM | n.3057T>G c.9770T>G (p.Leu3257Arg) c.9992T>G (p.Leu3331Arg) c.9746T>G (p.Leu3249Arg) c.5015T>G (p.Leu1672Arg) c.2765T>G (p.Leu922Arg) c.3728T>G (p.Leu1243Arg) | |
| 1 | g.197090255A>G | CA344001734 | ASPM | n.3057T>C c.9770T>C (p.Leu3257Pro) c.9992T>C (p.Leu3331Pro) c.9746T>C (p.Leu3249Pro) c.5015T>C (p.Leu1672Pro) c.2765T>C (p.Leu922Pro) c.3728T>C (p.Leu1243Pro) | |
| 1 | g.197090255A>T | CA344001735 | ASPM | n.3057T>A c.9770T>A (p.Leu3257His) c.9992T>A (p.Leu3331His) c.9746T>A (p.Leu3249His) c.5015T>A (p.Leu1672His) c.2765T>A (p.Leu922His) c.3728T>A (p.Leu1243His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090255_197090258del | CA2649660638 | ASPM | n.3054_3057del c.9767_9770del (p.Ala3256ValfsTer5) c.9989_9992del (p.Ala3330ValfsTer5) c.9743_9746del (p.Ala3248ValfsTer5) c.5012_5015del (p.Ala1671ValfsTer5) c.2762_2765del (p.Ala921ValfsTer5) c.3725_3728del (p.Ala1242ValfsTer5) | gnomAD v4 |
| 1 | g.197090256G>A | CA344001736 | ASPM | n.3056C>T c.9769C>T (p.Leu3257Phe) c.9991C>T (p.Leu3331Phe) c.9745C>T (p.Leu3249Phe) c.5014C>T (p.Leu1672Phe) c.2764C>T (p.Leu922Phe) c.3727C>T (p.Leu1243Phe) | dbSNP |
| 1 | g.197090256G>C | CA344001737 | ASPM | n.3056C>G c.9769C>G (p.Leu3257Val) c.9991C>G (p.Leu3331Val) c.9745C>G (p.Leu3249Val) c.5014C>G (p.Leu1672Val) c.2764C>G (p.Leu922Val) c.3727C>G (p.Leu1243Val) | |
| 1 | g.197090256G= | CA1217925180 | ASPM | n.3056C= c.9769C= (p.Leu3257=) c.9991C= (p.Leu3331=) c.9745C= (p.Leu3249=) c.5014C= (p.Leu1672=) c.2764C= (p.Leu922=) c.3727C= (p.Leu1243=) | |
| 1 | g.197090256G>T | CA344001738 | ASPM | n.3056C>A c.9769C>A (p.Leu3257Ile) c.9991C>A (p.Leu3331Ile) c.9745C>A (p.Leu3249Ile) c.5014C>A (p.Leu1672Ile) c.2764C>A (p.Leu922Ile) c.3727C>A (p.Leu1243Ile) | |
| 1 | g.197090257T>A | CA422805277 | ASPM | n.3055A>T c.9768A>T (p.Ala3256=) c.9990A>T (p.Ala3330=) c.9744A>T (p.Ala3248=) c.5013A>T (p.Ala1671=) c.2763A>T (p.Ala921=) c.3726A>T (p.Ala1242=) | |
| 1 | g.197090257T>C | CA422805278 | ASPM | n.3055A>G c.9768A>G (p.Ala3256=) c.9990A>G (p.Ala3330=) c.9744A>G (p.Ala3248=) c.5013A>G (p.Ala1671=) c.2763A>G (p.Ala921=) c.3726A>G (p.Ala1242=) | |
| 1 | g.197090257T>G | CA1308866 | ASPM | n.3055A>C c.9768A>C (p.Ala3256=) c.9990A>C (p.Ala3330=) c.9744A>C (p.Ala3248=) c.5013A>C (p.Ala1671=) c.2763A>C (p.Ala921=) c.3726A>C (p.Ala1242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090257T= | CA1217925182 | ASPM | n.3055A= c.9768A= (p.Ala3256=) c.9990A= (p.Ala3330=) c.9744A= (p.Ala3248=) c.5013A= (p.Ala1671=) c.2763A= (p.Ala921=) c.3726A= (p.Ala1242=) | |
| 1 | g.197090258G>A | CA344001741 | ASPM | n.3054C>T c.9767C>T (p.Ala3256Val) c.9989C>T (p.Ala3330Val) c.9743C>T (p.Ala3248Val) c.5012C>T (p.Ala1671Val) c.2762C>T (p.Ala921Val) c.3725C>T (p.Ala1242Val) | gnomAD v4 |
| 1 | g.197090258G>C | CA344001740 | ASPM | n.3054C>G c.9767C>G (p.Ala3256Gly) c.9989C>G (p.Ala3330Gly) c.9743C>G (p.Ala3248Gly) c.5012C>G (p.Ala1671Gly) c.2762C>G (p.Ala921Gly) c.3725C>G (p.Ala1242Gly) | gnomAD v4 |
| 1 | g.197090258G>T | CA344001739 | ASPM | n.3054C>A c.9767C>A (p.Ala3256Glu) c.9989C>A (p.Ala3330Glu) c.9743C>A (p.Ala3248Glu) c.5012C>A (p.Ala1671Glu) c.2762C>A (p.Ala921Glu) c.3725C>A (p.Ala1242Glu) | |
| 1 | g.197090259C>A | CA344001742 | ASPM | n.3053G>T c.9766G>T (p.Ala3256Ser) c.9988G>T (p.Ala3330Ser) c.9742G>T (p.Ala3248Ser) c.5011G>T (p.Ala1671Ser) c.2761G>T (p.Ala921Ser) c.3724G>T (p.Ala1242Ser) | |
| 1 | g.197090259C= | CA1148879276 | ASPM | n.3053G= c.9766G= (p.Ala3256=) c.9988G= (p.Ala3330=) c.9742G= (p.Ala3248=) c.5011G= (p.Ala1671=) c.2761G= (p.Ala921=) c.3724G= (p.Ala1242=) | |
| 1 | g.197090259C>G | CA344001743 | ASPM | n.3053G>C c.9766G>C (p.Ala3256Pro) c.9988G>C (p.Ala3330Pro) c.9742G>C (p.Ala3248Pro) c.5011G>C (p.Ala1671Pro) c.2761G>C (p.Ala921Pro) c.3724G>C (p.Ala1242Pro) | |
| 1 | g.197090259C>T | CA1308867 | ASPM | n.3053G>A c.9766G>A (p.Ala3256Thr) c.9988G>A (p.Ala3330Thr) c.9742G>A (p.Ala3248Thr) c.5011G>A (p.Ala1671Thr) c.2761G>A (p.Ala921Thr) c.3724G>A (p.Ala1242Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090260A>C | CA422805284 | ASPM | n.3052T>G c.9765T>G (p.Leu3255=) c.9987T>G (p.Leu3329=) c.9741T>G (p.Leu3247=) c.5010T>G (p.Leu1670=) c.2760T>G (p.Leu920=) c.3723T>G (p.Leu1241=) | |
| 1 | g.197090260A>G | CA422805285 | ASPM | n.3052T>C c.9765T>C (p.Leu3255=) c.9987T>C (p.Leu3329=) c.9741T>C (p.Leu3247=) c.5010T>C (p.Leu1670=) c.2760T>C (p.Leu920=) c.3723T>C (p.Leu1241=) | |
| 1 | g.197090260A>T | CA422805286 | ASPM | n.3052T>A c.9765T>A (p.Leu3255=) c.9987T>A (p.Leu3329=) c.9741T>A (p.Leu3247=) c.5010T>A (p.Leu1670=) c.2760T>A (p.Leu920=) c.3723T>A (p.Leu1241=) | |
| 1 | g.197090260_197090261dup | CA2649660639 | ASPM | n.3051_3052dup c.9764_9765dup (p.Ala3256LeufsTer7) c.9986_9987dup (p.Ala3330LeufsTer7) c.9740_9741dup (p.Ala3248LeufsTer7) c.5009_5010dup (p.Ala1671LeufsTer7) c.2759_2760dup (p.Ala921LeufsTer7) c.3722_3723dup (p.Ala1242LeufsTer7) | gnomAD v4 |
| 1 | g.197090261A>C | CA344001744 | ASPM | n.3051T>G c.9764T>G (p.Leu3255Arg) c.9986T>G (p.Leu3329Arg) c.9740T>G (p.Leu3247Arg) c.5009T>G (p.Leu1670Arg) c.2759T>G (p.Leu920Arg) c.3722T>G (p.Leu1241Arg) | |
| 1 | g.197090261A>G | CA344001745 | ASPM | n.3051T>C c.9764T>C (p.Leu3255Pro) c.9986T>C (p.Leu3329Pro) c.9740T>C (p.Leu3247Pro) c.5009T>C (p.Leu1670Pro) c.2759T>C (p.Leu920Pro) c.3722T>C (p.Leu1241Pro) | |
| 1 | g.197090261A>T | CA344001746 | ASPM | n.3051T>A c.9764T>A (p.Leu3255His) c.9986T>A (p.Leu3329His) c.9740T>A (p.Leu3247His) c.5009T>A (p.Leu1670His) c.2759T>A (p.Leu920His) c.3722T>A (p.Leu1241His) | |
| 1 | g.197090261_197090262delinsAG | CA1217925186 | ASPM | n.3050_3051delinsCT c.9763_9764delinsCT (p.Leu3255=) c.9985_9986delinsCT (p.Leu3329=) c.9739_9740delinsCT (p.Leu3247=) c.5008_5009delinsCT (p.Leu1670=) c.2758_2759delinsCT (p.Leu920=) c.3721_3722delinsCT (p.Leu1241=) | |
| 1 | g.197090262del | CA35861957 | ASPM | n.3050del c.9763del (p.Ala3256HisfsTer6) c.9985del (p.Ala3330HisfsTer6) c.9739del (p.Ala3248HisfsTer6) c.5008del (p.Ala1671HisfsTer6) c.2758del (p.Ala921HisfsTer6) c.3721del (p.Ala1242HisfsTer6) | dbSNP |
| 1 | g.197090262G>A | CA1308868 | ASPM | n.3050C>T c.9763C>T (p.Leu3255Phe) c.9985C>T (p.Leu3329Phe) c.9739C>T (p.Leu3247Phe) c.5008C>T (p.Leu1670Phe) c.2758C>T (p.Leu920Phe) c.3721C>T (p.Leu1241Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090262G>C | CA344001747 | ASPM | n.3050C>G c.9763C>G (p.Leu3255Val) c.9985C>G (p.Leu3329Val) c.9739C>G (p.Leu3247Val) c.5008C>G (p.Leu1670Val) c.2758C>G (p.Leu920Val) c.3721C>G (p.Leu1241Val) | gnomAD v4 |
| 1 | g.197090262G= | CA1142387261 | ASPM | n.3050C= c.9763C= (p.Leu3255=) c.9985C= (p.Leu3329=) c.9739C= (p.Leu3247=) c.5008C= (p.Leu1670=) c.2758C= (p.Leu920=) c.3721C= (p.Leu1241=) | |
| 1 | g.197090262G>T | CA344001748 | ASPM | n.3050C>A c.9763C>A (p.Leu3255Ile) c.9985C>A (p.Leu3329Ile) c.9739C>A (p.Leu3247Ile) c.5008C>A (p.Leu1670Ile) c.2758C>A (p.Leu920Ile) c.3721C>A (p.Leu1241Ile) | |
| 1 | g.197090263T>A | CA422805297 | ASPM | n.3049A>T c.9762A>T (p.Ala3254=) c.9984A>T (p.Ala3328=) c.9738A>T (p.Ala3246=) c.5007A>T (p.Ala1669=) c.2757A>T (p.Ala919=) c.3720A>T (p.Ala1240=) | |
| 1 | g.197090263T>C | CA422805298 | ASPM | n.3049A>G c.9762A>G (p.Ala3254=) c.9984A>G (p.Ala3328=) c.9738A>G (p.Ala3246=) c.5007A>G (p.Ala1669=) c.2757A>G (p.Ala919=) c.3720A>G (p.Ala1240=) | dbSNP |
| 1 | g.197090263T>G | CA422805299 | ASPM | n.3049A>C c.9762A>C (p.Ala3254=) c.9984A>C (p.Ala3328=) c.9738A>C (p.Ala3246=) c.5007A>C (p.Ala1669=) c.2757A>C (p.Ala919=) c.3720A>C (p.Ala1240=) | |
| 1 | g.197090263T= | CA1217925192 | ASPM | n.3049A= c.9762A= (p.Ala3254=) c.9984A= (p.Ala3328=) c.9738A= (p.Ala3246=) c.5007A= (p.Ala1669=) c.2757A= (p.Ala919=) c.3720A= (p.Ala1240=) | |
| 1 | g.197090264G>A | CA344001749 | ASPM | n.3048C>T c.9761C>T (p.Ala3254Val) c.9983C>T (p.Ala3328Val) c.9737C>T (p.Ala3246Val) c.5006C>T (p.Ala1669Val) c.2756C>T (p.Ala919Val) c.3719C>T (p.Ala1240Val) | |
| 1 | g.197090264G>C | CA344001750 | ASPM | n.3048C>G c.9761C>G (p.Ala3254Gly) c.9983C>G (p.Ala3328Gly) c.9737C>G (p.Ala3246Gly) c.5006C>G (p.Ala1669Gly) c.2756C>G (p.Ala919Gly) c.3719C>G (p.Ala1240Gly) | |
| 1 | g.197090264G>T | CA344001751 | ASPM | n.3048C>A c.9761C>A (p.Ala3254Glu) c.9983C>A (p.Ala3328Glu) c.9737C>A (p.Ala3246Glu) c.5006C>A (p.Ala1669Glu) c.2756C>A (p.Ala919Glu) c.3719C>A (p.Ala1240Glu) | |
| 1 | g.197090265C>A | CA344001753 | ASPM | n.3047G>T c.9760G>T (p.Ala3254Ser) c.9982G>T (p.Ala3328Ser) c.9736G>T (p.Ala3246Ser) c.5005G>T (p.Ala1669Ser) c.2755G>T (p.Ala919Ser) c.3718G>T (p.Ala1240Ser) | |
| 1 | g.197090265C= | CA1217925194 | ASPM | n.3047G= c.9760G= (p.Ala3254=) c.9982G= (p.Ala3328=) c.9736G= (p.Ala3246=) c.5005G= (p.Ala1669=) c.2755G= (p.Ala919=) c.3718G= (p.Ala1240=) | |
| 1 | g.197090265C>G | CA344001754 | ASPM | n.3047G>C c.9760G>C (p.Ala3254Pro) c.9982G>C (p.Ala3328Pro) c.9736G>C (p.Ala3246Pro) c.5005G>C (p.Ala1669Pro) c.2755G>C (p.Ala919Pro) c.3718G>C (p.Ala1240Pro) | |
| 1 | g.197090265C>T | CA344001752 | ASPM | n.3047G>A c.9760G>A (p.Ala3254Thr) c.9982G>A (p.Ala3328Thr) c.9736G>A (p.Ala3246Thr) c.5005G>A (p.Ala1669Thr) c.2755G>A (p.Ala919Thr) c.3718G>A (p.Ala1240Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090266A>C | CA422805303 | ASPM | n.3046T>G c.9759T>G (p.Thr3253=) c.9981T>G (p.Thr3327=) c.9735T>G (p.Thr3245=) c.5004T>G (p.Thr1668=) c.2754T>G (p.Thr918=) c.3717T>G (p.Thr1239=) | |
| 1 | g.197090266A>G | CA422805304 | ASPM | n.3046T>C c.9759T>C (p.Thr3253=) c.9981T>C (p.Thr3327=) c.9735T>C (p.Thr3245=) c.5004T>C (p.Thr1668=) c.2754T>C (p.Thr918=) c.3717T>C (p.Thr1239=) | |
| 1 | g.197090266A>T | CA422805305 | ASPM | n.3046T>A c.9759T>A (p.Thr3253=) c.9981T>A (p.Thr3327=) c.9735T>A (p.Thr3245=) c.5004T>A (p.Thr1668=) c.2754T>A (p.Thr918=) c.3717T>A (p.Thr1239=) | |
| 1 | g.197090267G>A | CA344001755 | ASPM | n.3045C>T c.9758C>T (p.Thr3253Ile) c.9980C>T (p.Thr3327Ile) c.9734C>T (p.Thr3245Ile) c.5003C>T (p.Thr1668Ile) c.2753C>T (p.Thr918Ile) c.3716C>T (p.Thr1239Ile) | |
| 1 | g.197090267G>C | CA344001756 | ASPM | n.3045C>G c.9758C>G (p.Thr3253Ser) c.9980C>G (p.Thr3327Ser) c.9734C>G (p.Thr3245Ser) c.5003C>G (p.Thr1668Ser) c.2753C>G (p.Thr918Ser) c.3716C>G (p.Thr1239Ser) | |
| 1 | g.197090267G>T | CA344001757 | ASPM | n.3045C>A c.9758C>A (p.Thr3253Asn) c.9980C>A (p.Thr3327Asn) c.9734C>A (p.Thr3245Asn) c.5003C>A (p.Thr1668Asn) c.2753C>A (p.Thr918Asn) c.3716C>A (p.Thr1239Asn) | |
| 1 | g.197090268T>A | CA344001758 | ASPM | n.3044A>T c.9757A>T (p.Thr3253Ser) c.9979A>T (p.Thr3327Ser) c.9733A>T (p.Thr3245Ser) c.5002A>T (p.Thr1668Ser) c.2752A>T (p.Thr918Ser) c.3715A>T (p.Thr1239Ser) | |
| 1 | g.197090268T>C | CA344001759 | ASPM | n.3044A>G c.9757A>G (p.Thr3253Ala) c.9979A>G (p.Thr3327Ala) c.9733A>G (p.Thr3245Ala) c.5002A>G (p.Thr1668Ala) c.2752A>G (p.Thr918Ala) c.3715A>G (p.Thr1239Ala) | |
| 1 | g.197090268T>G | CA344001760 | ASPM | n.3044A>C c.9757A>C (p.Thr3253Pro) c.9979A>C (p.Thr3327Pro) c.9733A>C (p.Thr3245Pro) c.5002A>C (p.Thr1668Pro) c.2752A>C (p.Thr918Pro) c.3715A>C (p.Thr1239Pro) | |
| 1 | g.197090269T>A | CA344001761 | ASPM | n.3043A>T c.9756A>T (p.Arg3252Ser) c.9978A>T (p.Arg3326Ser) c.9732A>T (p.Arg3244Ser) c.5001A>T (p.Arg1667Ser) c.2751A>T (p.Arg917Ser) c.3714A>T (p.Arg1238Ser) | |
| 1 | g.197090269T>C | CA422805312 | ASPM | n.3043A>G c.9756A>G (p.Arg3252=) c.9978A>G (p.Arg3326=) c.9732A>G (p.Arg3244=) c.5001A>G (p.Arg1667=) c.2751A>G (p.Arg917=) c.3714A>G (p.Arg1238=) | |
| 1 | g.197090269T>G | CA344001762 | ASPM | n.3043A>C c.9756A>C (p.Arg3252Ser) c.9978A>C (p.Arg3326Ser) c.9732A>C (p.Arg3244Ser) c.5001A>C (p.Arg1667Ser) c.2751A>C (p.Arg917Ser) c.3714A>C (p.Arg1238Ser) | |
| 1 | g.197090270C>A | CA344001763 | ASPM | n.3042G>T c.9755G>T (p.Arg3252Ile) c.9977G>T (p.Arg3326Ile) c.9731G>T (p.Arg3244Ile) c.5000G>T (p.Arg1667Ile) c.2750G>T (p.Arg917Ile) c.3713G>T (p.Arg1238Ile) | |
| 1 | g.197090270C>G | CA344001764 | ASPM | n.3042G>C c.9755G>C (p.Arg3252Thr) c.9977G>C (p.Arg3326Thr) c.9731G>C (p.Arg3244Thr) c.5000G>C (p.Arg1667Thr) c.2750G>C (p.Arg917Thr) c.3713G>C (p.Arg1238Thr) | |
| 1 | g.197090270C>T | CA344001765 | ASPM | n.3042G>A c.9755G>A (p.Arg3252Lys) c.9977G>A (p.Arg3326Lys) c.9731G>A (p.Arg3244Lys) c.5000G>A (p.Arg1667Lys) c.2750G>A (p.Arg917Lys) c.3713G>A (p.Arg1238Lys) | |
| 1 | g.197090270_197090271delinsCT | CA1217925198 | ASPM | n.3041_3042delinsAG c.9754_9755delinsAG (p.Arg3252=) c.9976_9977delinsAG (p.Arg3326=) c.9730_9731delinsAG (p.Arg3244=) c.4999_5000delinsAG (p.Arg1667=) c.2749_2750delinsAG (p.Arg917=) c.3712_3713delinsAG (p.Arg1238=) | |
| 1 | g.197090271T>A | CA344001766 | ASPM | n.3041A>T c.9754A>T (p.Arg3252Ter) c.9976A>T (p.Arg3326Ter) c.9730A>T (p.Arg3244Ter) c.4999A>T (p.Arg1667Ter) c.2749A>T (p.Arg917Ter) c.3712A>T (p.Arg1238Ter) | |
| 1 | g.197090271T>C | CA344001767 | ASPM | n.3041A>G c.9754A>G (p.Arg3252Gly) c.9976A>G (p.Arg3326Gly) c.9730A>G (p.Arg3244Gly) c.4999A>G (p.Arg1667Gly) c.2749A>G (p.Arg917Gly) c.3712A>G (p.Arg1238Gly) | |
| 1 | g.197090271T>G | CA422805316 | ASPM | n.3041A>C c.9754A>C (p.Arg3252=) c.9976A>C (p.Arg3326=) c.9730A>C (p.Arg3244=) c.4999A>C (p.Arg1667=) c.2749A>C (p.Arg917=) c.3712A>C (p.Arg1238=) | |
| 1 | g.197090271_197090274delinsTTTT | CA1143355783 | ASPM | n.3038_3041delinsAAAA c.9751_9754delinsAAAA (p.Lys3251=) c.9973_9976delinsAAAA (p.Lys3325=) c.9727_9730delinsAAAA (p.Lys3243=) c.4996_4999delinsAAAA (p.Lys1666=) c.2746_2749delinsAAAA (p.Lys916=) c.3709_3712delinsAAAA (p.Lys1237=) | |
| 1 | g.197090274del | CA342312 | ASPM | n.3041del c.9754del (p.Arg3252GlufsTer10) c.9976del (p.Arg3326GlufsTer10) c.9730del (p.Arg3244GlufsTer10) c.4999del (p.Arg1667GlufsTer10) c.2749del (p.Arg917GlufsTer10) c.3712del (p.Arg1238GlufsTer10) | ClinVar dbSNP |
| 1 | g.197090272T>A | CA344001768 | ASPM | n.3040A>T c.9753A>T (p.Lys3251Asn) c.9975A>T (p.Lys3325Asn) c.9729A>T (p.Lys3243Asn) c.4998A>T (p.Lys1666Asn) c.2748A>T (p.Lys916Asn) c.3711A>T (p.Lys1237Asn) | |
| 1 | g.197090272T>C | CA422805317 | ASPM | n.3040A>G c.9753A>G (p.Lys3251=) c.9975A>G (p.Lys3325=) c.9729A>G (p.Lys3243=) c.4998A>G (p.Lys1666=) c.2748A>G (p.Lys916=) c.3711A>G (p.Lys1237=) | |
| 1 | g.197090272T>G | CA344001769 | ASPM | n.3040A>C c.9753A>C (p.Lys3251Asn) c.9975A>C (p.Lys3325Asn) c.9729A>C (p.Lys3243Asn) c.4998A>C (p.Lys1666Asn) c.2748A>C (p.Lys916Asn) c.3711A>C (p.Lys1237Asn) | |
| 1 | g.197090273T>A | CA344001770 | ASPM | n.3039A>T c.9752A>T (p.Lys3251Ile) c.9974A>T (p.Lys3325Ile) c.9728A>T (p.Lys3243Ile) c.4997A>T (p.Lys1666Ile) c.2747A>T (p.Lys916Ile) c.3710A>T (p.Lys1237Ile) | |
| 1 | g.197090273T>C | CA35861967 | ASPM | n.3039A>G c.9752A>G (p.Lys3251Arg) c.9974A>G (p.Lys3325Arg) c.9728A>G (p.Lys3243Arg) c.4997A>G (p.Lys1666Arg) c.2747A>G (p.Lys916Arg) c.3710A>G (p.Lys1237Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090273T>G | CA344001771 | ASPM | n.3039A>C c.9752A>C (p.Lys3251Thr) c.9974A>C (p.Lys3325Thr) c.9728A>C (p.Lys3243Thr) c.4997A>C (p.Lys1666Thr) c.2747A>C (p.Lys916Thr) c.3710A>C (p.Lys1237Thr) | gnomAD v4 |
| 1 | g.197090273T= | CA1147571749 | ASPM | n.3039A= c.9752A= (p.Lys3251=) c.9974A= (p.Lys3325=) c.9728A= (p.Lys3243=) c.4997A= (p.Lys1666=) c.2747A= (p.Lys916=) c.3710A= (p.Lys1237=) | |
| 1 | g.197090274T>A | CA344001772 | ASPM | n.3038A>T c.9751A>T (p.Lys3251Ter) c.9973A>T (p.Lys3325Ter) c.9727A>T (p.Lys3243Ter) c.4996A>T (p.Lys1666Ter) c.2746A>T (p.Lys916Ter) c.3709A>T (p.Lys1237Ter) | |
| 1 | g.197090274T>C | CA344001774 | ASPM | n.3038A>G c.9751A>G (p.Lys3251Glu) c.9973A>G (p.Lys3325Glu) c.9727A>G (p.Lys3243Glu) c.4996A>G (p.Lys1666Glu) c.2746A>G (p.Lys916Glu) c.3709A>G (p.Lys1237Glu) | |
| 1 | g.197090274T>G | CA344001773 | ASPM | n.3038A>C c.9751A>C (p.Lys3251Gln) c.9973A>C (p.Lys3325Gln) c.9727A>C (p.Lys3243Gln) c.4996A>C (p.Lys1666Gln) c.2746A>C (p.Lys916Gln) c.3709A>C (p.Lys1237Gln) | |
| 1 | g.197090275G>A | CA422805324 | ASPM | n.3037C>T c.9750C>T (p.Tyr3250=) c.9972C>T (p.Tyr3324=) c.9726C>T (p.Tyr3242=) c.4995C>T (p.Tyr1665=) c.2745C>T (p.Tyr915=) c.3708C>T (p.Tyr1236=) | |
| 1 | g.197090275G>C | CA344001775 | ASPM | n.3037C>G c.9750C>G (p.Tyr3250Ter) c.9972C>G (p.Tyr3324Ter) c.9726C>G (p.Tyr3242Ter) c.4995C>G (p.Tyr1665Ter) c.2745C>G (p.Tyr915Ter) c.3708C>G (p.Tyr1236Ter) | |
| 1 | g.197090275G>T | CA344001776 | ASPM | n.3037C>A c.9750C>A (p.Tyr3250Ter) c.9972C>A (p.Tyr3324Ter) c.9726C>A (p.Tyr3242Ter) c.4995C>A (p.Tyr1665Ter) c.2745C>A (p.Tyr915Ter) c.3708C>A (p.Tyr1236Ter) | |
| 1 | g.197090276T>A | CA344001777 | ASPM | n.3036A>T c.9749A>T (p.Tyr3250Phe) c.9971A>T (p.Tyr3324Phe) c.9725A>T (p.Tyr3242Phe) c.4994A>T (p.Tyr1665Phe) c.2744A>T (p.Tyr915Phe) c.3707A>T (p.Tyr1236Phe) | |
| 1 | g.197090276T>C | CA344001778 | ASPM | n.3036A>G c.9749A>G (p.Tyr3250Cys) c.9971A>G (p.Tyr3324Cys) c.9725A>G (p.Tyr3242Cys) c.4994A>G (p.Tyr1665Cys) c.2744A>G (p.Tyr915Cys) c.3707A>G (p.Tyr1236Cys) | gnomAD v4 |
| 1 | g.197090276T>G | CA344001779 | ASPM | n.3036A>C c.9749A>C (p.Tyr3250Ser) c.9971A>C (p.Tyr3324Ser) c.9725A>C (p.Tyr3242Ser) c.4994A>C (p.Tyr1665Ser) c.2744A>C (p.Tyr915Ser) c.3707A>C (p.Tyr1236Ser) | |
| 1 | g.197090276_197090278delinsTAG | CA1217925205 | ASPM | n.3034_3036delinsCTA c.9747_9749delinsCTA (p.Leu3249=) c.9969_9971delinsCTA (p.Leu3323=) c.9723_9725delinsCTA (p.Leu3241=) c.4992_4994delinsCTA (p.Leu1664=) c.2742_2744delinsCTA (p.Leu914=) c.3705_3707delinsCTA (p.Leu1235=) | |
| 1 | g.197090277A= | CA1217925211 | ASPM | n.3035T= c.9748T= (p.Tyr3250=) c.9970T= (p.Tyr3324=) c.9724T= (p.Tyr3242=) c.4993T= (p.Tyr1665=) c.2743T= (p.Tyr915=) c.3706T= (p.Tyr1236=) | |
| 1 | g.197090277A>C | CA344001781 | ASPM | n.3035T>G c.9748T>G (p.Tyr3250Asp) c.9970T>G (p.Tyr3324Asp) c.9724T>G (p.Tyr3242Asp) c.4993T>G (p.Tyr1665Asp) c.2743T>G (p.Tyr915Asp) c.3706T>G (p.Tyr1236Asp) | |
| 1 | g.197090277A>G | CA344001780 | ASPM | n.3035T>C c.9748T>C (p.Tyr3250His) c.9970T>C (p.Tyr3324His) c.9724T>C (p.Tyr3242His) c.4993T>C (p.Tyr1665His) c.2743T>C (p.Tyr915His) c.3706T>C (p.Tyr1236His) | dbSNP gnomAD v4 |
| 1 | g.197090277A>T | CA344001782 | ASPM | n.3035T>A c.9748T>A (p.Tyr3250Asn) c.9970T>A (p.Tyr3324Asn) c.9724T>A (p.Tyr3242Asn) c.4993T>A (p.Tyr1665Asn) c.2743T>A (p.Tyr915Asn) c.3706T>A (p.Tyr1236Asn) | |
| 1 | g.197090277_197090280delinsAGAG | CA1143355784 | ASPM | n.3032_3035delinsCTCT c.9745_9748delinsCTCT (p.Leu3249=) c.9967_9970delinsCTCT (p.Leu3323=) c.9721_9724delinsCTCT (p.Leu3241=) c.4990_4993delinsCTCT (p.Leu1664=) c.2740_2743delinsCTCT (p.Leu914=) c.3703_3706delinsCTCT (p.Leu1235=) | |
| 1 | g.197090279_197090280del | CA342311 | ASPM | n.3034_3035del c.9747_9748del (p.Tyr3250GlnfsTer14) c.9969_9970del (p.Tyr3324GlnfsTer14) c.9723_9724del (p.Tyr3242GlnfsTer14) c.4992_4993del (p.Tyr1665GlnfsTer14) c.2742_2743del (p.Tyr915GlnfsTer14) c.3705_3706del (p.Tyr1236GlnfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090278G>A | CA1308869 | ASPM | n.3034C>T c.9747C>T (p.Leu3249=) c.9969C>T (p.Leu3323=) c.9723C>T (p.Leu3241=) c.4992C>T (p.Leu1664=) c.2742C>T (p.Leu914=) c.3705C>T (p.Leu1235=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197090278G>C | CA422805338 | ASPM | n.3034C>G c.9747C>G (p.Leu3249=) c.9969C>G (p.Leu3323=) c.9723C>G (p.Leu3241=) c.4992C>G (p.Leu1664=) c.2742C>G (p.Leu914=) c.3705C>G (p.Leu1235=) | gnomAD v4 |
| 1 | g.197090278G= | CA1217925215 | ASPM | n.3034C= c.9747C= (p.Leu3249=) c.9969C= (p.Leu3323=) c.9723C= (p.Leu3241=) c.4992C= (p.Leu1664=) c.2742C= (p.Leu914=) c.3705C= (p.Leu1235=) | |
| 1 | g.197090278G>T | CA422805340 | ASPM | n.3034C>A c.9747C>A (p.Leu3249=) c.9969C>A (p.Leu3323=) c.9723C>A (p.Leu3241=) c.4992C>A (p.Leu1664=) c.2742C>A (p.Leu914=) c.3705C>A (p.Leu1235=) | |
| 1 | g.197090279A= | CA1217925222 | ASPM | n.3033T= c.9746T= (p.Leu3249=) c.9968T= (p.Leu3323=) c.9722T= (p.Leu3241=) c.4991T= (p.Leu1664=) c.2741T= (p.Leu914=) c.3704T= (p.Leu1235=) | |
| 1 | g.197090279A>C | CA344001783 | ASPM | n.3033T>G c.9746T>G (p.Leu3249Arg) c.9968T>G (p.Leu3323Arg) c.9722T>G (p.Leu3241Arg) c.4991T>G (p.Leu1664Arg) c.2741T>G (p.Leu914Arg) c.3704T>G (p.Leu1235Arg) | |
| 1 | g.197090279A>G | CA344001784 | ASPM | n.3033T>C c.9746T>C (p.Leu3249Pro) c.9968T>C (p.Leu3323Pro) c.9722T>C (p.Leu3241Pro) c.4991T>C (p.Leu1664Pro) c.2741T>C (p.Leu914Pro) c.3704T>C (p.Leu1235Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197090279A>T | CA344001785 | ASPM | n.3033T>A c.9746T>A (p.Leu3249His) c.9968T>A (p.Leu3323His) c.9722T>A (p.Leu3241His) c.4991T>A (p.Leu1664His) c.2741T>A (p.Leu914His) c.3704T>A (p.Leu1235His) | |
| 1 | g.197090279_197090283delinsAGTTT | CA1217925219 | ASPM | n.3029_3033delinsAAACT c.9742_9746delinsAAACT (p.Lys3248=) c.9964_9968delinsAAACT (p.Lys3322=) c.9718_9722delinsAAACT (p.Lys3240=) c.4987_4991delinsAAACT (p.Lys1663=) c.2737_2741delinsAAACT (p.Lys913=) c.3700_3704delinsAAACT (p.Lys1234=) | |
| 1 | g.197090280G>A | CA344001786 | ASPM | n.3032C>T c.9745C>T (p.Leu3249Phe) c.9967C>T (p.Leu3323Phe) c.9721C>T (p.Leu3241Phe) c.4990C>T (p.Leu1664Phe) c.2740C>T (p.Leu914Phe) c.3703C>T (p.Leu1235Phe) | gnomAD v4 |
| 1 | g.197090280G>C | CA344001787 | ASPM | n.3032C>G c.9745C>G (p.Leu3249Val) c.9967C>G (p.Leu3323Val) c.9721C>G (p.Leu3241Val) c.4990C>G (p.Leu1664Val) c.2740C>G (p.Leu914Val) c.3703C>G (p.Leu1235Val) | dbSNP |
| 1 | g.197090280G= | CA1217925226 | ASPM | n.3032C= c.9745C= (p.Leu3249=) c.9967C= (p.Leu3323=) c.9721C= (p.Leu3241=) c.4990C= (p.Leu1664=) c.2740C= (p.Leu914=) c.3703C= (p.Leu1235=) | |
| 1 | g.197090280G>T | CA344001788 | ASPM | n.3032C>A c.9745C>A (p.Leu3249Ile) c.9967C>A (p.Leu3323Ile) c.9721C>A (p.Leu3241Ile) c.4990C>A (p.Leu1664Ile) c.2740C>A (p.Leu914Ile) c.3703C>A (p.Leu1235Ile) | |
| 1 | g.197090284_197090287del | CA1217925225 | ASPM | n.3029_3032del c.9742_9745del (p.Lys3248SerfsTer13) c.9964_9967del (p.Lys3322SerfsTer13) c.9718_9721del (p.Lys3240SerfsTer13) c.4987_4990del (p.Lys1663SerfsTer13) c.2737_2740del (p.Lys913SerfsTer13) c.3700_3703del (p.Lys1234SerfsTer13) | dbSNP |
| 1 | g.197090281T>A | CA344001789 | ASPM | n.3031A>T c.9744A>T (p.Lys3248Asn) c.9966A>T (p.Lys3322Asn) c.9720A>T (p.Lys3240Asn) c.4989A>T (p.Lys1663Asn) c.2739A>T (p.Lys913Asn) c.3702A>T (p.Lys1234Asn) | |
| 1 | g.197090281T>C | CA1308870 | ASPM | n.3031A>G c.9744A>G (p.Lys3248=) c.9966A>G (p.Lys3322=) c.9720A>G (p.Lys3240=) c.4989A>G (p.Lys1663=) c.2739A>G (p.Lys913=) c.3702A>G (p.Lys1234=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197090281T>G | CA344001790 | ASPM | n.3031A>C c.9744A>C (p.Lys3248Asn) c.9966A>C (p.Lys3322Asn) c.9720A>C (p.Lys3240Asn) c.4989A>C (p.Lys1663Asn) c.2739A>C (p.Lys913Asn) c.3702A>C (p.Lys1234Asn) | |
| 1 | g.197090281T= | CA1148246952 | ASPM | n.3031A= c.9744A= (p.Lys3248=) c.9966A= (p.Lys3322=) c.9720A= (p.Lys3240=) c.4989A= (p.Lys1663=) c.2739A= (p.Lys913=) c.3702A= (p.Lys1234=) | |
| 1 | g.197090281_197090284delinsTTTG | CA1217925228 | ASPM | n.3028_3031delinsCAAA c.9741_9744delinsCAAA (p.Asn3247=) c.9963_9966delinsCAAA (p.Asn3321=) c.9717_9720delinsCAAA (p.Asn3239=) c.4986_4989delinsCAAA (p.Asn1662=) c.2736_2739delinsCAAA (p.Asn912=) c.3699_3702delinsCAAA (p.Asn1233=) |