| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197088226_197088249del | CA2649660425 | ASPM | n.3448+11_3448+34del c.10161+11_10161+34del (n.10161+11_10161+34del) c.10383+11_10383+34del (n.10383+11_10383+34del) c.10137+11_10137+34del (n.10137+11_10137+34del) c.5406+11_5406+34del (n.5406+11_5406+34del) c.3156+11_3156+34del (n.3156+11_3156+34del) c.4130_4153del (p.Ser1377_Ile1384del) | gnomAD v4 |
| 1 | g.197088239_197088243delinsAACTG | CA1217923454 | ASPM | n.3448+13_3448+17delinsCAGTT c.10161+13_10161+17delinsCAGTT (n.10161+13_10161+17delinsCAGTT) c.10383+13_10383+17delinsCAGTT (n.10383+13_10383+17delinsCAGTT) c.10137+13_10137+17delinsCAGTT (n.10137+13_10137+17delinsCAGTT) c.5406+13_5406+17delinsCAGTT (n.5406+13_5406+17delinsCAGTT) c.3156+13_3156+17delinsCAGTT (n.3156+13_3156+17delinsCAGTT) c.4132_4136delinsCAGTT (p.Gln1378=) | |
| 1 | g.197088243_197088246del | CA205202 | ASPM | n.3448+13_3448+16del c.10161+13_10161+16del (n.10161+13_10161+16del) c.10383+13_10383+16del (n.10383+13_10383+16del) c.10137+13_10137+16del (n.10137+13_10137+16del) c.5406+13_5406+16del (n.5406+13_5406+16del) c.3156+13_3156+16del (n.3156+13_3156+16del) c.4132_4135del (p.Gln1378CysfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088241C>A | CA343997107 | ASPM | n.3448+15G>T c.10161+15G>T (n.10161+15G>T) c.10383+15G>T (n.10383+15G>T) c.10137+15G>T (n.10137+15G>T) c.5406+15G>T (n.5406+15G>T) c.3156+15G>T (n.3156+15G>T) c.4134G>T (p.Gln1378His) | |
| 1 | g.197088241C= | CA1143763576 | ASPM | n.3448+15G= c.10161+15G= (n.10161+15G=) c.10383+15G= (n.10383+15G=) c.10137+15G= (n.10137+15G=) c.5406+15G= (n.5406+15G=) c.3156+15G= (n.3156+15G=) c.4134G= (p.Gln1378=) | |
| 1 | g.197088241C>G | CA1308786 | ASPM | n.3448+15G>C c.10161+15G>C (n.10161+15G>C) c.10383+15G>C (n.10383+15G>C) c.10137+15G>C (n.10137+15G>C) c.5406+15G>C (n.5406+15G>C) c.3156+15G>C (n.3156+15G>C) c.4134G>C (p.Gln1378His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088241C>T | CA2649660426 | ASPM | n.3448+15G>A c.10161+15G>A (n.10161+15G>A) c.10383+15G>A (n.10383+15G>A) c.10137+15G>A (n.10137+15G>A) c.5406+15G>A (n.5406+15G>A) c.3156+15G>A (n.3156+15G>A) c.4134G>A (p.Gln1378=) | gnomAD v4 |
| 1 | g.197088241_197088242insA | CA2649660427 | ASPM | n.3448+14_3448+15insT c.10161+14_10161+15insT (n.10161+14_10161+15insT) c.10383+14_10383+15insT (n.10383+14_10383+15insT) c.10137+14_10137+15insT (n.10137+14_10137+15insT) c.5406+14_5406+15insT (n.5406+14_5406+15insT) c.3156+14_3156+15insT (n.3156+14_3156+15insT) c.4133_4134insT (p.Gln1378HisfsTer6) | gnomAD v4 |
| 1 | g.197088242T>A | CA343997111 | ASPM | n.3448+14A>T c.10161+14A>T (n.10161+14A>T) c.10383+14A>T (n.10383+14A>T) c.10137+14A>T (n.10137+14A>T) c.5406+14A>T (n.5406+14A>T) c.3156+14A>T (n.3156+14A>T) c.4133A>T (p.Gln1378Leu) | |
| 1 | g.197088242T>C | CA343997113 | ASPM | n.3448+14A>G c.10161+14A>G (n.10161+14A>G) c.10383+14A>G (n.10383+14A>G) c.10137+14A>G (n.10137+14A>G) c.5406+14A>G (n.5406+14A>G) c.3156+14A>G (n.3156+14A>G) c.4133A>G (p.Gln1378Arg) | |
| 1 | g.197088242T>G | CA343997114 | ASPM | n.3448+14A>C c.10161+14A>C (n.10161+14A>C) c.10383+14A>C (n.10383+14A>C) c.10137+14A>C (n.10137+14A>C) c.5406+14A>C (n.5406+14A>C) c.3156+14A>C (n.3156+14A>C) c.4133A>C (p.Gln1378Pro) | |
| 1 | g.197088243G>A | CA343997117 | ASPM | n.3448+13C>T c.10161+13C>T (n.10161+13C>T) c.10383+13C>T (n.10383+13C>T) c.10137+13C>T (n.10137+13C>T) c.5406+13C>T (n.5406+13C>T) c.3156+13C>T (n.3156+13C>T) c.4132C>T (p.Gln1378Ter) | |
| 1 | g.197088243G>C | CA343997118 | ASPM | n.3448+13C>G c.10161+13C>G (n.10161+13C>G) c.10383+13C>G (n.10383+13C>G) c.10137+13C>G (n.10137+13C>G) c.5406+13C>G (n.5406+13C>G) c.3156+13C>G (n.3156+13C>G) c.4132C>G (p.Gln1378Glu) | |
| 1 | g.197088243G>T | CA343997121 | ASPM | n.3448+13C>A c.10161+13C>A (n.10161+13C>A) c.10383+13C>A (n.10383+13C>A) c.10137+13C>A (n.10137+13C>A) c.5406+13C>A (n.5406+13C>A) c.3156+13C>A (n.3156+13C>A) c.4132C>A (p.Gln1378Lys) | gnomAD v4 |
| 1 | g.197088244A>C | CA343997124 | ASPM | n.3448+12T>G c.10161+12T>G (n.10161+12T>G) c.10383+12T>G (n.10383+12T>G) c.10137+12T>G (n.10137+12T>G) c.5406+12T>G (n.5406+12T>G) c.3156+12T>G (n.3156+12T>G) c.4131T>G (p.Ser1377Arg) | |
| 1 | g.197088244A>T | CA343997126 | ASPM | n.3448+12T>A c.10161+12T>A (n.10161+12T>A) c.10383+12T>A (n.10383+12T>A) c.10137+12T>A (n.10137+12T>A) c.5406+12T>A (n.5406+12T>A) c.3156+12T>A (n.3156+12T>A) c.4131T>A (p.Ser1377Arg) | |
| 1 | g.197088245C>A | CA343997127 | ASPM | n.3448+11G>T c.10161+11G>T (n.10161+11G>T) c.10383+11G>T (n.10383+11G>T) c.10137+11G>T (n.10137+11G>T) c.5406+11G>T (n.5406+11G>T) c.3156+11G>T (n.3156+11G>T) c.4130G>T (p.Ser1377Ile) | |
| 1 | g.197088245C= | CA1217923465 | ASPM | n.3448+11G= c.10161+11G= (n.10161+11G=) c.10383+11G= (n.10383+11G=) c.10137+11G= (n.10137+11G=) c.5406+11G= (n.5406+11G=) c.3156+11G= (n.3156+11G=) c.4130G= (p.Ser1377=) | |
| 1 | g.197088245C>G | CA343997128 | ASPM | n.3448+11G>C c.10161+11G>C (n.10161+11G>C) c.10383+11G>C (n.10383+11G>C) c.10137+11G>C (n.10137+11G>C) c.5406+11G>C (n.5406+11G>C) c.3156+11G>C (n.3156+11G>C) c.4130G>C (p.Ser1377Thr) | |
| 1 | g.197088245C>T | CA343997130 | ASPM | n.3448+11G>A c.10161+11G>A (n.10161+11G>A) c.10383+11G>A (n.10383+11G>A) c.10137+11G>A (n.10137+11G>A) c.5406+11G>A (n.5406+11G>A) c.3156+11G>A (n.3156+11G>A) c.4130G>A (p.Ser1377Asn) | |
| 1 | g.197088246_197088247insTTCTCT | CA2649660428 | ASPM | n.3448+11_3448+12insAGAAAG c.10161+11_10161+12insAGAAAG (n.10161+11_10161+12insAGAAAG) c.10383+11_10383+12insAGAAAG (n.10383+11_10383+12insAGAAAG) c.10137+11_10137+12insAGAAAG (n.10137+11_10137+12insAGAAAG) c.5406+11_5406+12insAGAAAG (n.5406+11_5406+12insAGAAAG) c.3156+11_3156+12insAGAAAG (n.3156+11_3156+12insAGAAAG) c.4130_4131insAGAAAG (p.Ile1376_Ser1377insArgGlu) | gnomAD v4 |
| 1 | g.197088246T>A | CA343997132 | ASPM | n.3448+10A>T c.10161+10A>T (n.10161+10A>T) c.10383+10A>T (n.10383+10A>T) c.10137+10A>T (n.10137+10A>T) c.5406+10A>T (n.5406+10A>T) c.3156+10A>T (n.3156+10A>T) c.4129A>T (p.Ser1377Cys) | |
| 1 | g.197088246T>C | CA343997135 | ASPM | n.3448+10A>G c.10161+10A>G (n.10161+10A>G) c.10383+10A>G (n.10383+10A>G) c.10137+10A>G (n.10137+10A>G) c.5406+10A>G (n.5406+10A>G) c.3156+10A>G (n.3156+10A>G) c.4129A>G (p.Ser1377Gly) | |
| 1 | g.197088246T>G | CA343997136 | ASPM | n.3448+10A>C c.10161+10A>C (n.10161+10A>C) c.10383+10A>C (n.10383+10A>C) c.10137+10A>C (n.10137+10A>C) c.5406+10A>C (n.5406+10A>C) c.3156+10A>C (n.3156+10A>C) c.4129A>C (p.Ser1377Arg) | |
| 1 | g.197088246dup | CA528279098 | ASPM | n.3448+10dup c.10161+10dup (n.10161+10dup) c.10383+10dup (n.10383+10dup) c.10137+10dup (n.10137+10dup) c.5406+10dup (n.5406+10dup) c.3156+10dup (n.3156+10dup) c.4129dup (p.Ser1377LysfsTer7) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088246_197088250delinsTAATA | CA1217923469 | ASPM | n.3448+6_3448+10delinsTATTA c.10161+6_10161+10delinsTATTA (n.10161+6_10161+10delinsTATTA) c.10383+6_10383+10delinsTATTA (n.10383+6_10383+10delinsTATTA) c.10137+6_10137+10delinsTATTA (n.10137+6_10137+10delinsTATTA) c.5406+6_5406+10delinsTATTA (n.5406+6_5406+10delinsTATTA) c.3156+6_3156+10delinsTATTA (n.3156+6_3156+10delinsTATTA) c.4125_4129delinsTATTA (p.Ser1375=) | |
| 1 | g.197088247A>C | CA343997140 | ASPM | n.3448+9T>G c.10161+9T>G (n.10161+9T>G) c.10383+9T>G (n.10383+9T>G) c.10137+9T>G (n.10137+9T>G) c.5406+9T>G (n.5406+9T>G) c.3156+9T>G (n.3156+9T>G) c.4128T>G (p.Ile1376Met) | |
| 1 | g.197088247_197088250del | CA729743511 | ASPM | n.3448+6_3448+9del c.10161+6_10161+9del (n.10161+6_10161+9del) c.10383+6_10383+9del (n.10383+6_10383+9del) c.10137+6_10137+9del (n.10137+6_10137+9del) c.5406+6_5406+9del (n.5406+6_5406+9del) c.3156+6_3156+9del (n.3156+6_3156+9del) c.4125_4128del (p.Ser1375ArgfsTer?) | dbSNP |
| 1 | g.197088248A>C | CA343997142 | ASPM | n.3448+8T>G c.10161+8T>G (n.10161+8T>G) c.10383+8T>G (n.10383+8T>G) c.10137+8T>G (n.10137+8T>G) c.5406+8T>G (n.5406+8T>G) c.3156+8T>G (n.3156+8T>G) c.4127T>G (p.Ile1376Ser) | |
| 1 | g.197088248A>G | CA343997143 | ASPM | n.3448+8T>C c.10161+8T>C (n.10161+8T>C) c.10383+8T>C (n.10383+8T>C) c.10137+8T>C (n.10137+8T>C) c.5406+8T>C (n.5406+8T>C) c.3156+8T>C (n.3156+8T>C) c.4127T>C (p.Ile1376Thr) | |
| 1 | g.197088248A>T | CA343997144 | ASPM | n.3448+8T>A c.10161+8T>A (n.10161+8T>A) c.10383+8T>A (n.10383+8T>A) c.10137+8T>A (n.10137+8T>A) c.5406+8T>A (n.5406+8T>A) c.3156+8T>A (n.3156+8T>A) c.4127T>A (p.Ile1376Asn) | |
| 1 | g.197088249T>A | CA343997145 | ASPM | n.3448+7A>T c.10161+7A>T (n.10161+7A>T) c.10383+7A>T (n.10383+7A>T) c.10137+7A>T (n.10137+7A>T) c.5406+7A>T (n.5406+7A>T) c.3156+7A>T (n.3156+7A>T) c.4126A>T (p.Ile1376Phe) | |
| 1 | g.197088249T>C | CA343997146 | ASPM | n.3448+7A>G c.10161+7A>G (n.10161+7A>G) c.10383+7A>G (n.10383+7A>G) c.10137+7A>G (n.10137+7A>G) c.5406+7A>G (n.5406+7A>G) c.3156+7A>G (n.3156+7A>G) c.4126A>G (p.Ile1376Val) | |
| 1 | g.197088249T>G | CA343997149 | ASPM | n.3448+7A>C c.10161+7A>C (n.10161+7A>C) c.10383+7A>C (n.10383+7A>C) c.10137+7A>C (n.10137+7A>C) c.5406+7A>C (n.5406+7A>C) c.3156+7A>C (n.3156+7A>C) c.4126A>C (p.Ile1376Leu) | |
| 1 | g.197088250A>C | CA343997156 | ASPM | n.3448+6T>G c.10161+6T>G (n.10161+6T>G) c.10383+6T>G (n.10383+6T>G) c.10137+6T>G (n.10137+6T>G) c.5406+6T>G (n.5406+6T>G) c.3156+6T>G (n.3156+6T>G) c.4125T>G (p.Ser1375Arg) | |
| 1 | g.197088250A>T | CA343997153 | ASPM | n.3448+6T>A c.10161+6T>A (n.10161+6T>A) c.10383+6T>A (n.10383+6T>A) c.10137+6T>A (n.10137+6T>A) c.5406+6T>A (n.5406+6T>A) c.3156+6T>A (n.3156+6T>A) c.4125T>A (p.Ser1375Arg) | |
| 1 | g.197088251C>A | CA343997159 | ASPM | n.3448+5G>T c.10161+5G>T (n.10161+5G>T) c.10383+5G>T (n.10383+5G>T) c.10137+5G>T (n.10137+5G>T) c.5406+5G>T (n.5406+5G>T) c.3156+5G>T (n.3156+5G>T) c.4124G>T (p.Ser1375Ile) | |
| 1 | g.197088251C= | CA1217923473 | ASPM | n.3448+5G= c.10161+5G= (n.10161+5G=) c.10383+5G= (n.10383+5G=) c.10137+5G= (n.10137+5G=) c.5406+5G= (n.5406+5G=) c.3156+5G= (n.3156+5G=) c.4124G= (p.Ser1375=) | |
| 1 | g.197088251C>G | CA343997163 | ASPM | n.3448+5G>C c.10161+5G>C (n.10161+5G>C) c.10383+5G>C (n.10383+5G>C) c.10137+5G>C (n.10137+5G>C) c.5406+5G>C (n.5406+5G>C) c.3156+5G>C (n.3156+5G>C) c.4124G>C (p.Ser1375Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088251C>T | CA343997167 | ASPM | n.3448+5G>A c.10161+5G>A (n.10161+5G>A) c.10383+5G>A (n.10383+5G>A) c.10137+5G>A (n.10137+5G>A) c.5406+5G>A (n.5406+5G>A) c.3156+5G>A (n.3156+5G>A) c.4124G>A (p.Ser1375Asn) | gnomAD v4 |
| 1 | g.197088252T>A | CA343997170 | ASPM | n.3448+4A>T c.10161+4A>T (n.10161+4A>T) c.10383+4A>T (n.10383+4A>T) c.10137+4A>T (n.10137+4A>T) c.5406+4A>T (n.5406+4A>T) c.3156+4A>T (n.3156+4A>T) c.4123A>T (p.Ser1375Cys) | |
| 1 | g.197088252T>C | CA343997174 | ASPM | n.3448+4A>G c.10161+4A>G (n.10161+4A>G) c.10383+4A>G (n.10383+4A>G) c.10137+4A>G (n.10137+4A>G) c.5406+4A>G (n.5406+4A>G) c.3156+4A>G (n.3156+4A>G) c.4123A>G (p.Ser1375Gly) | |
| 1 | g.197088252T>G | CA343997176 | ASPM | n.3448+4A>C c.10161+4A>C (n.10161+4A>C) c.10383+4A>C (n.10383+4A>C) c.10137+4A>C (n.10137+4A>C) c.5406+4A>C (n.5406+4A>C) c.3156+4A>C (n.3156+4A>C) c.4123A>C (p.Ser1375Arg) | |
| 1 | g.197088253_197088255delinsTAC | CA1217923474 | ASPM | n.3448+1_3448+3delinsGTA c.10161+1_10161+3delinsGTA (n.10161+1_10161+3delinsGTA) c.10383+1_10383+3delinsGTA (n.10383+1_10383+3delinsGTA) c.10137+1_10137+3delinsGTA (n.10137+1_10137+3delinsGTA) c.5406+1_5406+3delinsGTA (n.5406+1_5406+3delinsGTA) c.3156+1_3156+3delinsGTA (n.3156+1_3156+3delinsGTA) c.4120_4122delinsGTA (p.Val1374=) | |
| 1 | g.197088254A>C | CA343997181 | ASPM | n.3448+2T>G c.10161+2T>G (n.10161+2T>G) c.10383+2T>G (n.10383+2T>G) c.10137+2T>G (n.10137+2T>G) c.5406+2T>G (n.5406+2T>G) c.3156+2T>G (n.3156+2T>G) c.4121T>G (p.Val1374Gly) | |
| 1 | g.197088254A>G | CA343997183 | ASPM | n.3448+2T>C c.10161+2T>C (n.10161+2T>C) c.10383+2T>C (n.10383+2T>C) c.10137+2T>C (n.10137+2T>C) c.5406+2T>C (n.5406+2T>C) c.3156+2T>C (n.3156+2T>C) c.4121T>C (p.Val1374Ala) | |
| 1 | g.197088254A>T | CA343997187 | ASPM | n.3448+2T>A c.10161+2T>A (n.10161+2T>A) c.10383+2T>A (n.10383+2T>A) c.10137+2T>A (n.10137+2T>A) c.5406+2T>A (n.5406+2T>A) c.3156+2T>A (n.3156+2T>A) c.4121T>A (p.Val1374Glu) | |
| 1 | g.197088254_197088256delinsACA | CA1148418692 | ASPM | n.3448_3448+2delinsTGT c.10161_10161+2delinsTGT c.10383_10383+2delinsTGT c.10137_10137+2delinsTGT c.5406_5406+2delinsTGT c.3156_3156+2delinsTGT c.4119_4121delinsTGT (p.Ser1373=) | |
| 1 | g.197088255_197088256del | CA1308787 | ASPM | n.3448+1_3448+2del c.10161+1_10161+2del c.10383+1_10383+2del c.10137+1_10137+2del c.5406+1_5406+2del c.3156+1_3156+2del c.4120_4121del (p.Val1374LysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.197088255C>A | CA343997193 | ASPM | n.3448+1G>T c.10161+1G>T (n.10161+1G>T) c.10383+1G>T (n.10383+1G>T) c.10137+1G>T (n.10137+1G>T) c.5406+1G>T (n.5406+1G>T) c.3156+1G>T (n.3156+1G>T) c.4120G>T (p.Val1374Leu) | |
| 1 | g.197088255C>G | CA343997213 | ASPM | n.3448+1G>C c.10161+1G>C (n.10161+1G>C) c.10383+1G>C (n.10383+1G>C) c.10137+1G>C (n.10137+1G>C) c.5406+1G>C (n.5406+1G>C) c.3156+1G>C (n.3156+1G>C) c.4120G>C (p.Val1374Leu) | |
| 1 | g.197088255C>T | CA343997218 | ASPM | n.3448+1G>A c.10161+1G>A (n.10161+1G>A) c.10383+1G>A (n.10383+1G>A) c.10137+1G>A (n.10137+1G>A) c.5406+1G>A (n.5406+1G>A) c.3156+1G>A (n.3156+1G>A) c.4120G>A (p.Val1374Ile) | |
| 1 | g.197088256A>C | CA422672137 | ASPM | n.3448T>G c.10161T>G (p.Ser3387=) c.10383T>G (p.Ser3461=) c.10137T>G (p.Ser3379=) c.5406T>G (p.Ser1802=) c.3156T>G (p.Ser1052=) c.4119T>G (p.Ser1373=) | |
| 1 | g.197088256A>G | CA422672138 | ASPM | n.3448T>C c.10161T>C (p.Ser3387=) c.10383T>C (p.Ser3461=) c.10137T>C (p.Ser3379=) c.5406T>C (p.Ser1802=) c.3156T>C (p.Ser1052=) c.4119T>C (p.Ser1373=) | |
| 1 | g.197088256A>T | CA422672139 | ASPM | n.3448T>A c.10161T>A (p.Ser3387=) c.10383T>A (p.Ser3461=) c.10137T>A (p.Ser3379=) c.5406T>A (p.Ser1802=) c.3156T>A (p.Ser1052=) c.4119T>A (p.Ser1373=) | gnomAD v4 |
| 1 | g.197088257del | CA2649660429 | ASPM | n.3447del c.10160del (p.Ser3387LeufsTer26) c.10382del (p.Ser3461LeufsTer26) c.10136del (p.Ser3379LeufsTer26) c.5405del (p.Ser1802LeufsTer26) c.3155del (p.Ser1052LeufsTer26) c.4118del (p.Ser1373LeufsTer2) | gnomAD v4 |
| 1 | g.197088257G>A | CA35861019 | ASPM | n.3447C>T c.10160C>T (p.Ser3387Phe) c.10382C>T (p.Ser3461Phe) c.10136C>T (p.Ser3379Phe) c.5405C>T (p.Ser1802Phe) c.3155C>T (p.Ser1052Phe) c.4118C>T (p.Ser1373Phe) | dbSNP gnomAD v4 |
| 1 | g.197088257G>C | CA343997222 | ASPM | n.3447C>G c.10160C>G (p.Ser3387Cys) c.10382C>G (p.Ser3461Cys) c.10136C>G (p.Ser3379Cys) c.5405C>G (p.Ser1802Cys) c.3155C>G (p.Ser1052Cys) c.4118C>G (p.Ser1373Cys) | |
| 1 | g.197088257G= | CA1144152795 | ASPM | n.3447C= c.10160C= (p.Ser3387=) c.10382C= (p.Ser3461=) c.10136C= (p.Ser3379=) c.5405C= (p.Ser1802=) c.3155C= (p.Ser1052=) c.4118C= (p.Ser1373=) | |
| 1 | g.197088257G>T | CA343997219 | ASPM | n.3447C>A c.10160C>A (p.Ser3387Tyr) c.10382C>A (p.Ser3461Tyr) c.10136C>A (p.Ser3379Tyr) c.5405C>A (p.Ser1802Tyr) c.3155C>A (p.Ser1052Tyr) c.4118C>A (p.Ser1373Tyr) | |
| 1 | g.197088258A>C | CA343997226 | ASPM | n.3446T>G c.10159T>G (p.Ser3387Ala) c.10381T>G (p.Ser3461Ala) c.10135T>G (p.Ser3379Ala) c.5404T>G (p.Ser1802Ala) c.3154T>G (p.Ser1052Ala) c.4117T>G (p.Ser1373Ala) | |
| 1 | g.197088258A>G | CA343997225 | ASPM | n.3446T>C c.10159T>C (p.Ser3387Pro) c.10381T>C (p.Ser3461Pro) c.10135T>C (p.Ser3379Pro) c.5404T>C (p.Ser1802Pro) c.3154T>C (p.Ser1052Pro) c.4117T>C (p.Ser1373Pro) | |
| 1 | g.197088258A>T | CA343997230 | ASPM | n.3446T>A c.10159T>A (p.Ser3387Thr) c.10381T>A (p.Ser3461Thr) c.10135T>A (p.Ser3379Thr) c.5404T>A (p.Ser1802Thr) c.3154T>A (p.Ser1052Thr) c.4117T>A (p.Ser1373Thr) | |
| 1 | g.197088259G>A | CA422672140 | ASPM | n.3445C>T c.10158C>T (p.Ala3386=) c.10380C>T (p.Ala3460=) c.10134C>T (p.Ala3378=) c.5403C>T (p.Ala1801=) c.3153C>T (p.Ala1051=) c.4116C>T (p.Ala1372=) | |
| 1 | g.197088259G>C | CA422672141 | ASPM | n.3445C>G c.10158C>G (p.Ala3386=) c.10380C>G (p.Ala3460=) c.10134C>G (p.Ala3378=) c.5403C>G (p.Ala1801=) c.3153C>G (p.Ala1051=) c.4116C>G (p.Ala1372=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088259G= | CA1217923477 | ASPM | n.3445C= c.10158C= (p.Ala3386=) c.10380C= (p.Ala3460=) c.10134C= (p.Ala3378=) c.5403C= (p.Ala1801=) c.3153C= (p.Ala1051=) c.4116C= (p.Ala1372=) | |
| 1 | g.197088259G>T | CA422672142 | ASPM | n.3445C>A c.10158C>A (p.Ala3386=) c.10380C>A (p.Ala3460=) c.10134C>A (p.Ala3378=) c.5403C>A (p.Ala1801=) c.3153C>A (p.Ala1051=) c.4116C>A (p.Ala1372=) | |
| 1 | g.197088259_197088260del | CA2649660430 | ASPM | n.3444_3445del c.10157_10158del (p.Ala3386ValfsTer2) c.10379_10380del (p.Ala3460ValfsTer2) c.10133_10134del (p.Ala3378ValfsTer2) c.5402_5403del (p.Ala1801ValfsTer2) c.3152_3153del (p.Ala1051ValfsTer2) c.4115_4116del (p.Ala1372ValfsTer5) | gnomAD v4 |
| 1 | g.197088260G>A | CA343997234 | ASPM | n.3444C>T c.10157C>T (p.Ala3386Val) c.10379C>T (p.Ala3460Val) c.10133C>T (p.Ala3378Val) c.5402C>T (p.Ala1801Val) c.3152C>T (p.Ala1051Val) c.4115C>T (p.Ala1372Val) | |
| 1 | g.197088260G>C | CA343997237 | ASPM | n.3444C>G c.10157C>G (p.Ala3386Gly) c.10379C>G (p.Ala3460Gly) c.10133C>G (p.Ala3378Gly) c.5402C>G (p.Ala1801Gly) c.3152C>G (p.Ala1051Gly) c.4115C>G (p.Ala1372Gly) | |
| 1 | g.197088260G>T | CA343997241 | ASPM | n.3444C>A c.10157C>A (p.Ala3386Asp) c.10379C>A (p.Ala3460Asp) c.10133C>A (p.Ala3378Asp) c.5402C>A (p.Ala1801Asp) c.3152C>A (p.Ala1051Asp) c.4115C>A (p.Ala1372Asp) | |
| 1 | g.197088261C>A | CA343997244 | ASPM | n.3443G>T c.10156G>T (p.Ala3386Ser) c.10378G>T (p.Ala3460Ser) c.10132G>T (p.Ala3378Ser) c.5401G>T (p.Ala1801Ser) c.3151G>T (p.Ala1051Ser) c.4114G>T (p.Ala1372Ser) | |
| 1 | g.197088261C= | CA1217923478 | ASPM | n.3443G= c.10156G= (p.Ala3386=) c.10378G= (p.Ala3460=) c.10132G= (p.Ala3378=) c.5401G= (p.Ala1801=) c.3151G= (p.Ala1051=) c.4114G= (p.Ala1372=) | |
| 1 | g.197088261C>G | CA343997247 | ASPM | n.3443G>C c.10156G>C (p.Ala3386Pro) c.10378G>C (p.Ala3460Pro) c.10132G>C (p.Ala3378Pro) c.5401G>C (p.Ala1801Pro) c.3151G>C (p.Ala1051Pro) c.4114G>C (p.Ala1372Pro) | ClinVar dbSNP |
| 1 | g.197088261C>T | CA343997250 | ASPM | n.3443G>A c.10156G>A (p.Ala3386Thr) c.10378G>A (p.Ala3460Thr) c.10132G>A (p.Ala3378Thr) c.5401G>A (p.Ala1801Thr) c.3151G>A (p.Ala1051Thr) c.4114G>A (p.Ala1372Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088262T>A | CA343997251 | ASPM | n.3442A>T c.10155A>T (p.Arg3385Ser) c.10377A>T (p.Arg3459Ser) c.10131A>T (p.Arg3377Ser) c.5400A>T (p.Arg1800Ser) c.3150A>T (p.Arg1050Ser) c.4113A>T (p.Arg1371Ser) | |
| 1 | g.197088262T>C | CA422672143 | ASPM | n.3442A>G c.10155A>G (p.Arg3385=) c.10377A>G (p.Arg3459=) c.10131A>G (p.Arg3377=) c.5400A>G (p.Arg1800=) c.3150A>G (p.Arg1050=) c.4113A>G (p.Arg1371=) | |
| 1 | g.197088262T>G | CA343997252 | ASPM | n.3442A>C c.10155A>C (p.Arg3385Ser) c.10377A>C (p.Arg3459Ser) c.10131A>C (p.Arg3377Ser) c.5400A>C (p.Arg1800Ser) c.3150A>C (p.Arg1050Ser) c.4113A>C (p.Arg1371Ser) | |
| 1 | g.197088263C>A | CA343997255 | ASPM | n.3441G>T c.10154G>T (p.Arg3385Ile) c.10376G>T (p.Arg3459Ile) c.10130G>T (p.Arg3377Ile) c.5399G>T (p.Arg1800Ile) c.3149G>T (p.Arg1050Ile) c.4112G>T (p.Arg1371Ile) | |
| 1 | g.197088263C= | CA1141914784 | ASPM | n.3441G= c.10154G= (p.Arg3385=) c.10376G= (p.Arg3459=) c.10130G= (p.Arg3377=) c.5399G= (p.Arg1800=) c.3149G= (p.Arg1050=) c.4112G= (p.Arg1371=) | |
| 1 | g.197088263C>G | CA1308788 | ASPM | n.3441G>C c.10154G>C (p.Arg3385Thr) c.10376G>C (p.Arg3459Thr) c.10130G>C (p.Arg3377Thr) c.5399G>C (p.Arg1800Thr) c.3149G>C (p.Arg1050Thr) c.4112G>C (p.Arg1371Thr) | dbSNP ExAC gnomAD v2 |
| 1 | g.197088263C>T | CA343997260 | ASPM | n.3441G>A c.10154G>A (p.Arg3385Lys) c.10376G>A (p.Arg3459Lys) c.10130G>A (p.Arg3377Lys) c.5399G>A (p.Arg1800Lys) c.3149G>A (p.Arg1050Lys) c.4112G>A (p.Arg1371Lys) | |
| 1 | g.197088264T>A | CA343997263 | ASPM | n.3440A>T c.10153A>T (p.Arg3385Ter) c.10375A>T (p.Arg3459Ter) c.10129A>T (p.Arg3377Ter) c.5398A>T (p.Arg1800Ter) c.3148A>T (p.Arg1050Ter) c.4111A>T (p.Arg1371Ter) | |
| 1 | g.197088264T>C | CA343997270 | ASPM | n.3440A>G c.10153A>G (p.Arg3385Gly) c.10375A>G (p.Arg3459Gly) c.10129A>G (p.Arg3377Gly) c.5398A>G (p.Arg1800Gly) c.3148A>G (p.Arg1050Gly) c.4111A>G (p.Arg1371Gly) | |
| 1 | g.197088264T>G | CA422672144 | ASPM | n.3440A>C c.10153A>C (p.Arg3385=) c.10375A>C (p.Arg3459=) c.10129A>C (p.Arg3377=) c.5398A>C (p.Arg1800=) c.3148A>C (p.Arg1050=) c.4111A>C (p.Arg1371=) | |
| 1 | g.197088265A>C | CA343997272 | ASPM | n.3439T>G c.10152T>G (p.Asn3384Lys) c.10374T>G (p.Asn3458Lys) c.10128T>G (p.Asn3376Lys) c.5397T>G (p.Asn1799Lys) c.3147T>G (p.Asn1049Lys) c.4110T>G (p.Asn1370Lys) | |
| 1 | g.197088265A>G | CA422672145 | ASPM | n.3439T>C c.10152T>C (p.Asn3384=) c.10374T>C (p.Asn3458=) c.10128T>C (p.Asn3376=) c.5397T>C (p.Asn1799=) c.3147T>C (p.Asn1049=) c.4110T>C (p.Asn1370=) | |
| 1 | g.197088265A>T | CA343997281 | ASPM | n.3439T>A c.10152T>A (p.Asn3384Lys) c.10374T>A (p.Asn3458Lys) c.10128T>A (p.Asn3376Lys) c.5397T>A (p.Asn1799Lys) c.3147T>A (p.Asn1049Lys) c.4110T>A (p.Asn1370Lys) | |
| 1 | g.197088266T>A | CA343997296 | ASPM | n.3438A>T c.10151A>T (p.Asn3384Ile) c.10373A>T (p.Asn3458Ile) c.10127A>T (p.Asn3376Ile) c.5396A>T (p.Asn1799Ile) c.3146A>T (p.Asn1049Ile) c.4109A>T (p.Asn1370Ile) | |
| 1 | g.197088266T>C | CA343997298 | ASPM | n.3438A>G c.10151A>G (p.Asn3384Ser) c.10373A>G (p.Asn3458Ser) c.10127A>G (p.Asn3376Ser) c.5396A>G (p.Asn1799Ser) c.3146A>G (p.Asn1049Ser) c.4109A>G (p.Asn1370Ser) | |
| 1 | g.197088266T>G | CA343997300 | ASPM | n.3438A>C c.10151A>C (p.Asn3384Thr) c.10373A>C (p.Asn3458Thr) c.10127A>C (p.Asn3376Thr) c.5396A>C (p.Asn1799Thr) c.3146A>C (p.Asn1049Thr) c.4109A>C (p.Asn1370Thr) | |
| 1 | g.197088267T>A | CA343997304 | ASPM | n.3437A>T c.10150A>T (p.Asn3384Tyr) c.10372A>T (p.Asn3458Tyr) c.10126A>T (p.Asn3376Tyr) c.5395A>T (p.Asn1799Tyr) c.3145A>T (p.Asn1049Tyr) c.4108A>T (p.Asn1370Tyr) | |
| 1 | g.197088267T>C | CA343997307 | ASPM | n.3437A>G c.10150A>G (p.Asn3384Asp) c.10372A>G (p.Asn3458Asp) c.10126A>G (p.Asn3376Asp) c.5395A>G (p.Asn1799Asp) c.3145A>G (p.Asn1049Asp) c.4108A>G (p.Asn1370Asp) | |
| 1 | g.197088267T>G | CA343997314 | ASPM | n.3437A>C c.10150A>C (p.Asn3384His) c.10372A>C (p.Asn3458His) c.10126A>C (p.Asn3376His) c.5395A>C (p.Asn1799His) c.3145A>C (p.Asn1049His) c.4108A>C (p.Asn1370His) | |
| 1 | g.197088268T>A | CA422672148 | ASPM | n.3436A>T c.10149A>T (p.Thr3383=) c.10371A>T (p.Thr3457=) c.10125A>T (p.Thr3375=) c.5394A>T (p.Thr1798=) c.3144A>T (p.Thr1048=) c.4107A>T (p.Thr1369=) | |
| 1 | g.197088268T>C | CA422672147 | ASPM | n.3436A>G c.10149A>G (p.Thr3383=) c.10371A>G (p.Thr3457=) c.10125A>G (p.Thr3375=) c.5394A>G (p.Thr1798=) c.3144A>G (p.Thr1048=) c.4107A>G (p.Thr1369=) | |
| 1 | g.197088268T>G | CA422672146 | ASPM | n.3436A>C c.10149A>C (p.Thr3383=) c.10371A>C (p.Thr3457=) c.10125A>C (p.Thr3375=) c.5394A>C (p.Thr1798=) c.3144A>C (p.Thr1048=) c.4107A>C (p.Thr1369=) | |
| 1 | g.197088269G>A | CA1308789 | ASPM | n.3435C>T c.10148C>T (p.Thr3383Ile) c.10370C>T (p.Thr3457Ile) c.10124C>T (p.Thr3375Ile) c.5393C>T (p.Thr1798Ile) c.3143C>T (p.Thr1048Ile) c.4106C>T (p.Thr1369Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088269G>C | CA343997321 | ASPM | n.3435C>G c.10148C>G (p.Thr3383Arg) c.10370C>G (p.Thr3457Arg) c.10124C>G (p.Thr3375Arg) c.5393C>G (p.Thr1798Arg) c.3143C>G (p.Thr1048Arg) c.4106C>G (p.Thr1369Arg) | |
| 1 | g.197088269G= | CA1144054995 | ASPM | n.3435C= c.10148C= (p.Thr3383=) c.10370C= (p.Thr3457=) c.10124C= (p.Thr3375=) c.5393C= (p.Thr1798=) c.3143C= (p.Thr1048=) c.4106C= (p.Thr1369=) | |
| 1 | g.197088269G>T | CA343997324 | ASPM | n.3435C>A c.10148C>A (p.Thr3383Lys) c.10370C>A (p.Thr3457Lys) c.10124C>A (p.Thr3375Lys) c.5393C>A (p.Thr1798Lys) c.3143C>A (p.Thr1048Lys) c.4106C>A (p.Thr1369Lys) | |
| 1 | g.197088270T>A | CA343997325 | ASPM | n.3434A>T c.10147A>T (p.Thr3383Ser) c.10369A>T (p.Thr3457Ser) c.10123A>T (p.Thr3375Ser) c.5392A>T (p.Thr1798Ser) c.3142A>T (p.Thr1048Ser) c.4105A>T (p.Thr1369Ser) | |
| 1 | g.197088270T>C | CA343997328 | ASPM | n.3434A>G c.10147A>G (p.Thr3383Ala) c.10369A>G (p.Thr3457Ala) c.10123A>G (p.Thr3375Ala) c.5392A>G (p.Thr1798Ala) c.3142A>G (p.Thr1048Ala) c.4105A>G (p.Thr1369Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088270T>G | CA343997330 | ASPM | n.3434A>C c.10147A>C (p.Thr3383Pro) c.10369A>C (p.Thr3457Pro) c.10123A>C (p.Thr3375Pro) c.5392A>C (p.Thr1798Pro) c.3142A>C (p.Thr1048Pro) c.4105A>C (p.Thr1369Pro) | |
| 1 | g.197088270T= | CA1217923480 | ASPM | n.3434A= c.10147A= (p.Thr3383=) c.10369A= (p.Thr3457=) c.10123A= (p.Thr3375=) c.5392A= (p.Thr1798=) c.3142A= (p.Thr1048=) c.4105A= (p.Thr1369=) | |
| 1 | g.197088271T>A | CA422672149 | ASPM | n.3433A>T c.10146A>T (p.Thr3382=) c.10368A>T (p.Thr3456=) c.10122A>T (p.Thr3374=) c.5391A>T (p.Thr1797=) c.3141A>T (p.Thr1047=) c.4104A>T (p.Thr1368=) | |
| 1 | g.197088271T>C | CA422672150 | ASPM | n.3433A>G c.10146A>G (p.Thr3382=) c.10368A>G (p.Thr3456=) c.10122A>G (p.Thr3374=) c.5391A>G (p.Thr1797=) c.3141A>G (p.Thr1047=) c.4104A>G (p.Thr1368=) | gnomAD v4 |
| 1 | g.197088271T>G | CA422672151 | ASPM | n.3433A>C c.10146A>C (p.Thr3382=) c.10368A>C (p.Thr3456=) c.10122A>C (p.Thr3374=) c.5391A>C (p.Thr1797=) c.3141A>C (p.Thr1047=) c.4104A>C (p.Thr1368=) | gnomAD v4 |
| 1 | g.197088272G>A | CA343997339 | ASPM | n.3432C>T c.10145C>T (p.Thr3382Ile) c.10367C>T (p.Thr3456Ile) c.10121C>T (p.Thr3374Ile) c.5390C>T (p.Thr1797Ile) c.3140C>T (p.Thr1047Ile) c.4103C>T (p.Thr1368Ile) | ClinVar gnomAD v4 |
| 1 | g.197088272G>C | CA343997343 | ASPM | n.3432C>G c.10145C>G (p.Thr3382Arg) c.10367C>G (p.Thr3456Arg) c.10121C>G (p.Thr3374Arg) c.5390C>G (p.Thr1797Arg) c.3140C>G (p.Thr1047Arg) c.4103C>G (p.Thr1368Arg) | |
| 1 | g.197088272G>T | CA343997335 | ASPM | n.3432C>A c.10145C>A (p.Thr3382Lys) c.10367C>A (p.Thr3456Lys) c.10121C>A (p.Thr3374Lys) c.5390C>A (p.Thr1797Lys) c.3140C>A (p.Thr1047Lys) c.4103C>A (p.Thr1368Lys) | |
| 1 | g.197088273T>A | CA1308791 | ASPM | n.3431A>T c.10144A>T (p.Thr3382Ser) c.10366A>T (p.Thr3456Ser) c.10120A>T (p.Thr3374Ser) c.5389A>T (p.Thr1797Ser) c.3139A>T (p.Thr1047Ser) c.4102A>T (p.Thr1368Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.197088273T>C | CA1308790 | ASPM | n.3431A>G c.10144A>G (p.Thr3382Ala) c.10366A>G (p.Thr3456Ala) c.10120A>G (p.Thr3374Ala) c.5389A>G (p.Thr1797Ala) c.3139A>G (p.Thr1047Ala) c.4102A>G (p.Thr1368Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088273T>G | CA343997361 | ASPM | n.3431A>C c.10144A>C (p.Thr3382Pro) c.10366A>C (p.Thr3456Pro) c.10120A>C (p.Thr3374Pro) c.5389A>C (p.Thr1797Pro) c.3139A>C (p.Thr1047Pro) c.4102A>C (p.Thr1368Pro) | |
| 1 | g.197088273T= | CA1217923481 | ASPM | n.3431A= c.10144A= (p.Thr3382=) c.10366A= (p.Thr3456=) c.10120A= (p.Thr3374=) c.5389A= (p.Thr1797=) c.3139A= (p.Thr1047=) c.4102A= (p.Thr1368=) | |
| 1 | g.197088274C>A | CA343997363 | ASPM | n.3430G>T c.10143G>T (p.Lys3381Asn) c.10365G>T (p.Lys3455Asn) c.10119G>T (p.Lys3373Asn) c.5388G>T (p.Lys1796Asn) c.3138G>T (p.Lys1046Asn) c.4101G>T (p.Lys1367Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088274C= | CA1217923486 | ASPM | n.3430G= c.10143G= (p.Lys3381=) c.10365G= (p.Lys3455=) c.10119G= (p.Lys3373=) c.5388G= (p.Lys1796=) c.3138G= (p.Lys1046=) c.4101G= (p.Lys1367=) | |
| 1 | g.197088274C>G | CA343997377 | ASPM | n.3430G>C c.10143G>C (p.Lys3381Asn) c.10365G>C (p.Lys3455Asn) c.10119G>C (p.Lys3373Asn) c.5388G>C (p.Lys1796Asn) c.3138G>C (p.Lys1046Asn) c.4101G>C (p.Lys1367Asn) | |
| 1 | g.197088274C>T | CA422672152 | ASPM | n.3430G>A c.10143G>A (p.Lys3381=) c.10365G>A (p.Lys3455=) c.10119G>A (p.Lys3373=) c.5388G>A (p.Lys1796=) c.3138G>A (p.Lys1046=) c.4101G>A (p.Lys1367=) | |
| 1 | g.197088275T>A | CA343997380 | ASPM | n.3429A>T c.10142A>T (p.Lys3381Met) c.10364A>T (p.Lys3455Met) c.10118A>T (p.Lys3373Met) c.5387A>T (p.Lys1796Met) c.3137A>T (p.Lys1046Met) c.4100A>T (p.Lys1367Met) | |
| 1 | g.197088275T>C | CA343997381 | ASPM | n.3429A>G c.10142A>G (p.Lys3381Arg) c.10364A>G (p.Lys3455Arg) c.10118A>G (p.Lys3373Arg) c.5387A>G (p.Lys1796Arg) c.3137A>G (p.Lys1046Arg) c.4100A>G (p.Lys1367Arg) | |
| 1 | g.197088275T>G | CA343997382 | ASPM | n.3429A>C c.10142A>C (p.Lys3381Thr) c.10364A>C (p.Lys3455Thr) c.10118A>C (p.Lys3373Thr) c.5387A>C (p.Lys1796Thr) c.3137A>C (p.Lys1046Thr) c.4100A>C (p.Lys1367Thr) | |
| 1 | g.197088276T>A | CA343997385 | ASPM | n.3428A>T c.10141A>T (p.Lys3381Ter) c.10363A>T (p.Lys3455Ter) c.10117A>T (p.Lys3373Ter) c.5386A>T (p.Lys1796Ter) c.3136A>T (p.Lys1046Ter) c.4099A>T (p.Lys1367Ter) | |
| 1 | g.197088276T>C | CA343997386 | ASPM | n.3428A>G c.10141A>G (p.Lys3381Glu) c.10363A>G (p.Lys3455Glu) c.10117A>G (p.Lys3373Glu) c.5386A>G (p.Lys1796Glu) c.3136A>G (p.Lys1046Glu) c.4099A>G (p.Lys1367Glu) | |
| 1 | g.197088276T>G | CA343997387 | ASPM | n.3428A>C c.10141A>C (p.Lys3381Gln) c.10363A>C (p.Lys3455Gln) c.10117A>C (p.Lys3373Gln) c.5386A>C (p.Lys1796Gln) c.3136A>C (p.Lys1046Gln) c.4099A>C (p.Lys1367Gln) | |
| 1 | g.197088277C>A | CA422672153 | ASPM | n.3427G>T c.10140G>T (p.Leu3380=) c.10362G>T (p.Leu3454=) c.10116G>T (p.Leu3372=) c.5385G>T (p.Leu1795=) c.3135G>T (p.Leu1045=) c.4098G>T (p.Leu1366=) | |
| 1 | g.197088277C>G | CA422672154 | ASPM | n.3427G>C c.10140G>C (p.Leu3380=) c.10362G>C (p.Leu3454=) c.10116G>C (p.Leu3372=) c.5385G>C (p.Leu1795=) c.3135G>C (p.Leu1045=) c.4098G>C (p.Leu1366=) | |
| 1 | g.197088277C>T | CA422672155 | ASPM | n.3427G>A c.10140G>A (p.Leu3380=) c.10362G>A (p.Leu3454=) c.10116G>A (p.Leu3372=) c.5385G>A (p.Leu1795=) c.3135G>A (p.Leu1045=) c.4098G>A (p.Leu1366=) | |
| 1 | g.197088278A>C | CA343997388 | ASPM | n.3426T>G c.10139T>G (p.Leu3380Arg) c.10361T>G (p.Leu3454Arg) c.10115T>G (p.Leu3372Arg) c.5384T>G (p.Leu1795Arg) c.3134T>G (p.Leu1045Arg) c.4097T>G (p.Leu1366Arg) | |
| 1 | g.197088278A>G | CA343997393 | ASPM | n.3426T>C c.10139T>C (p.Leu3380Pro) c.10361T>C (p.Leu3454Pro) c.10115T>C (p.Leu3372Pro) c.5384T>C (p.Leu1795Pro) c.3134T>C (p.Leu1045Pro) c.4097T>C (p.Leu1366Pro) | |
| 1 | g.197088278A>T | CA343997396 | ASPM | n.3426T>A c.10139T>A (p.Leu3380Gln) c.10361T>A (p.Leu3454Gln) c.10115T>A (p.Leu3372Gln) c.5384T>A (p.Leu1795Gln) c.3134T>A (p.Leu1045Gln) c.4097T>A (p.Leu1366Gln) | |
| 1 | g.197088279G>A | CA422672156 | ASPM | n.3425C>T c.10138C>T (p.Leu3380=) c.10360C>T (p.Leu3454=) c.10114C>T (p.Leu3372=) c.5383C>T (p.Leu1795=) c.3133C>T (p.Leu1045=) c.4096C>T (p.Leu1366=) | |
| 1 | g.197088279G>C | CA343997401 | ASPM | n.3425C>G c.10138C>G (p.Leu3380Val) c.10360C>G (p.Leu3454Val) c.10114C>G (p.Leu3372Val) c.5383C>G (p.Leu1795Val) c.3133C>G (p.Leu1045Val) c.4096C>G (p.Leu1366Val) | |
| 1 | g.197088279G>T | CA343997405 | ASPM | n.3425C>A c.10138C>A (p.Leu3380Met) c.10360C>A (p.Leu3454Met) c.10114C>A (p.Leu3372Met) c.5383C>A (p.Leu1795Met) c.3133C>A (p.Leu1045Met) c.4096C>A (p.Leu1366Met) | |
| 1 | g.197088280T>A | CA343997410 | ASPM | n.3424A>T c.10137A>T (p.Leu3379Phe) c.10359A>T (p.Leu3453Phe) c.10113A>T (p.Leu3371Phe) c.5382A>T (p.Leu1794Phe) c.3132A>T (p.Leu1044Phe) c.4095A>T (p.Leu1365Phe) | |
| 1 | g.197088280T>C | CA422672157 | ASPM | n.3424A>G c.10137A>G (p.Leu3379=) c.10359A>G (p.Leu3453=) c.10113A>G (p.Leu3371=) c.5382A>G (p.Leu1794=) c.3132A>G (p.Leu1044=) c.4095A>G (p.Leu1365=) | |
| 1 | g.197088280T>G | CA343997418 | ASPM | n.3424A>C c.10137A>C (p.Leu3379Phe) c.10359A>C (p.Leu3453Phe) c.10113A>C (p.Leu3371Phe) c.5382A>C (p.Leu1794Phe) c.3132A>C (p.Leu1044Phe) c.4095A>C (p.Leu1365Phe) | |
| 1 | g.197088281A>C | CA343997427 | ASPM | n.3423T>G c.10136T>G (p.Leu3379Ter) c.10358T>G (p.Leu3453Ter) c.10112T>G (p.Leu3371Ter) c.5381T>G (p.Leu1794Ter) c.3131T>G (p.Leu1044Ter) c.4094T>G (p.Leu1365Ter) | |
| 1 | g.197088281A>G | CA343997431 | ASPM | n.3423T>C c.10136T>C (p.Leu3379Ser) c.10358T>C (p.Leu3453Ser) c.10112T>C (p.Leu3371Ser) c.5381T>C (p.Leu1794Ser) c.3131T>C (p.Leu1044Ser) c.4094T>C (p.Leu1365Ser) | |
| 1 | g.197088281A>T | CA343997434 | ASPM | n.3423T>A c.10136T>A (p.Leu3379Ter) c.10358T>A (p.Leu3453Ter) c.10112T>A (p.Leu3371Ter) c.5381T>A (p.Leu1794Ter) c.3131T>A (p.Leu1044Ter) c.4094T>A (p.Leu1365Ter) | |
| 1 | g.197088282A>C | CA343997438 | ASPM | n.3422T>G c.10135T>G (p.Leu3379Val) c.10357T>G (p.Leu3453Val) c.10111T>G (p.Leu3371Val) c.5380T>G (p.Leu1794Val) c.3130T>G (p.Leu1044Val) c.4093T>G (p.Leu1365Val) | |
| 1 | g.197088282A>G | CA422672158 | ASPM | n.3422T>C c.10135T>C (p.Leu3379=) c.10357T>C (p.Leu3453=) c.10111T>C (p.Leu3371=) c.5380T>C (p.Leu1794=) c.3130T>C (p.Leu1044=) c.4093T>C (p.Leu1365=) | |
| 1 | g.197088282A>T | CA343997439 | ASPM | n.3422T>A c.10135T>A (p.Leu3379Ile) c.10357T>A (p.Leu3453Ile) c.10111T>A (p.Leu3371Ile) c.5380T>A (p.Leu1794Ile) c.3130T>A (p.Leu1044Ile) c.4093T>A (p.Leu1365Ile) | |
| 1 | g.197088283A>C | CA343997440 | ASPM | n.3421T>G c.10134T>G (p.Ile3378Met) c.10356T>G (p.Ile3452Met) c.10110T>G (p.Ile3370Met) c.5379T>G (p.Ile1793Met) c.3129T>G (p.Ile1043Met) c.4092T>G (p.Ile1364Met) | |
| 1 | g.197088283A>G | CA422672160 | ASPM | n.3421T>C c.10134T>C (p.Ile3378=) c.10356T>C (p.Ile3452=) c.10110T>C (p.Ile3370=) c.5379T>C (p.Ile1793=) c.3129T>C (p.Ile1043=) c.4092T>C (p.Ile1364=) | |
| 1 | g.197088283A>T | CA422672159 | ASPM | n.3421T>A c.10134T>A (p.Ile3378=) c.10356T>A (p.Ile3452=) c.10110T>A (p.Ile3370=) c.5379T>A (p.Ile1793=) c.3129T>A (p.Ile1043=) c.4092T>A (p.Ile1364=) | gnomAD v4 |
| 1 | g.197088284A= | CA1217923489 | ASPM | n.3420T= c.10133T= (p.Ile3378=) c.10355T= (p.Ile3452=) c.10109T= (p.Ile3370=) c.5378T= (p.Ile1793=) c.3128T= (p.Ile1043=) c.4091T= (p.Ile1364=) | |
| 1 | g.197088284A>C | CA343997444 | ASPM | n.3420T>G c.10133T>G (p.Ile3378Ser) c.10355T>G (p.Ile3452Ser) c.10109T>G (p.Ile3370Ser) c.5378T>G (p.Ile1793Ser) c.3128T>G (p.Ile1043Ser) c.4091T>G (p.Ile1364Ser) | |
| 1 | g.197088284A>G | CA343997449 | ASPM | n.3420T>C c.10133T>C (p.Ile3378Thr) c.10355T>C (p.Ile3452Thr) c.10109T>C (p.Ile3370Thr) c.5378T>C (p.Ile1793Thr) c.3128T>C (p.Ile1043Thr) c.4091T>C (p.Ile1364Thr) | dbSNP |
| 1 | g.197088284A>T | CA343997450 | ASPM | n.3420T>A c.10133T>A (p.Ile3378Asn) c.10355T>A (p.Ile3452Asn) c.10109T>A (p.Ile3370Asn) c.5378T>A (p.Ile1793Asn) c.3128T>A (p.Ile1043Asn) c.4091T>A (p.Ile1364Asn) | |
| 1 | g.197088285T>A | CA343997451 | ASPM | n.3419A>T c.10132A>T (p.Ile3378Phe) c.10354A>T (p.Ile3452Phe) c.10108A>T (p.Ile3370Phe) c.5377A>T (p.Ile1793Phe) c.3127A>T (p.Ile1043Phe) c.4090A>T (p.Ile1364Phe) | |
| 1 | g.197088285T>C | CA1308792 | ASPM | n.3419A>G c.10132A>G (p.Ile3378Val) c.10354A>G (p.Ile3452Val) c.10108A>G (p.Ile3370Val) c.5377A>G (p.Ile1793Val) c.3127A>G (p.Ile1043Val) c.4090A>G (p.Ile1364Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088285T>G | CA343997455 | ASPM | n.3419A>C c.10132A>C (p.Ile3378Leu) c.10354A>C (p.Ile3452Leu) c.10108A>C (p.Ile3370Leu) c.5377A>C (p.Ile1793Leu) c.3127A>C (p.Ile1043Leu) c.4090A>C (p.Ile1364Leu) | gnomAD v4 |
| 1 | g.197088285T= | CA1217923492 | ASPM | n.3419A= c.10132A= (p.Ile3378=) c.10354A= (p.Ile3452=) c.10108A= (p.Ile3370=) c.5377A= (p.Ile1793=) c.3127A= (p.Ile1043=) c.4090A= (p.Ile1364=) | |
| 1 | g.197088286A>C | CA422672161 | ASPM | n.3418T>G c.10131T>G (p.Ala3377=) c.10353T>G (p.Ala3451=) c.10107T>G (p.Ala3369=) c.5376T>G (p.Ala1792=) c.3126T>G (p.Ala1042=) c.4089T>G (p.Ala1363=) | |
| 1 | g.197088286A>G | CA422672162 | ASPM | n.3418T>C c.10131T>C (p.Ala3377=) c.10353T>C (p.Ala3451=) c.10107T>C (p.Ala3369=) c.5376T>C (p.Ala1792=) c.3126T>C (p.Ala1042=) c.4089T>C (p.Ala1363=) | |
| 1 | g.197088286A>T | CA422672163 | ASPM | n.3418T>A c.10131T>A (p.Ala3377=) c.10353T>A (p.Ala3451=) c.10107T>A (p.Ala3369=) c.5376T>A (p.Ala1792=) c.3126T>A (p.Ala1042=) c.4089T>A (p.Ala1363=) | |
| 1 | g.197088287G>A | CA343997463 | ASPM | n.3417C>T c.10130C>T (p.Ala3377Val) c.10352C>T (p.Ala3451Val) c.10106C>T (p.Ala3369Val) c.5375C>T (p.Ala1792Val) c.3125C>T (p.Ala1042Val) c.4088C>T (p.Ala1363Val) | |
| 1 | g.197088287G>C | CA343997471 | ASPM | n.3417C>G c.10130C>G (p.Ala3377Gly) c.10352C>G (p.Ala3451Gly) c.10106C>G (p.Ala3369Gly) c.5375C>G (p.Ala1792Gly) c.3125C>G (p.Ala1042Gly) c.4088C>G (p.Ala1363Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088287G= | CA1217923494 | ASPM | n.3417C= c.10130C= (p.Ala3377=) c.10352C= (p.Ala3451=) c.10106C= (p.Ala3369=) c.5375C= (p.Ala1792=) c.3125C= (p.Ala1042=) c.4088C= (p.Ala1363=) | |
| 1 | g.197088287G>T | CA343997460 | ASPM | n.3417C>A c.10130C>A (p.Ala3377Asp) c.10352C>A (p.Ala3451Asp) c.10106C>A (p.Ala3369Asp) c.5375C>A (p.Ala1792Asp) c.3125C>A (p.Ala1042Asp) c.4088C>A (p.Ala1363Asp) | gnomAD v4 |
| 1 | g.197088288C>A | CA343997475 | ASPM | n.3416G>T c.10129G>T (p.Ala3377Ser) c.10351G>T (p.Ala3451Ser) c.10105G>T (p.Ala3369Ser) c.5374G>T (p.Ala1792Ser) c.3124G>T (p.Ala1042Ser) c.4087G>T (p.Ala1363Ser) | |
| 1 | g.197088288C>G | CA343997481 | ASPM | n.3416G>C c.10129G>C (p.Ala3377Pro) c.10351G>C (p.Ala3451Pro) c.10105G>C (p.Ala3369Pro) c.5374G>C (p.Ala1792Pro) c.3124G>C (p.Ala1042Pro) c.4087G>C (p.Ala1363Pro) | dbSNP gnomAD v4 |
| 1 | g.197088288C>T | CA343997478 | ASPM | n.3416G>A c.10129G>A (p.Ala3377Thr) c.10351G>A (p.Ala3451Thr) c.10105G>A (p.Ala3369Thr) c.5374G>A (p.Ala1792Thr) c.3124G>A (p.Ala1042Thr) c.4087G>A (p.Ala1363Thr) | |
| 1 | g.197088289C>A | CA343997485 | ASPM | n.3415G>T c.10128G>T (p.Leu3376Phe) c.10350G>T (p.Leu3450Phe) c.10104G>T (p.Leu3368Phe) c.5373G>T (p.Leu1791Phe) c.3123G>T (p.Leu1041Phe) c.4086G>T (p.Leu1362Phe) | COSMIC |
| 1 | g.197088289C>G | CA343997487 | ASPM | n.3415G>C c.10128G>C (p.Leu3376Phe) c.10350G>C (p.Leu3450Phe) c.10104G>C (p.Leu3368Phe) c.5373G>C (p.Leu1791Phe) c.3123G>C (p.Leu1041Phe) c.4086G>C (p.Leu1362Phe) | |
| 1 | g.197088289C>T | CA422672164 | ASPM | n.3415G>A c.10128G>A (p.Leu3376=) c.10350G>A (p.Leu3450=) c.10104G>A (p.Leu3368=) c.5373G>A (p.Leu1791=) c.3123G>A (p.Leu1041=) c.4086G>A (p.Leu1362=) | |
| 1 | g.197088290A>C | CA343997492 | ASPM | n.3414T>G c.10127T>G (p.Leu3376Trp) c.10349T>G (p.Leu3450Trp) c.10103T>G (p.Leu3368Trp) c.5372T>G (p.Leu1791Trp) c.3122T>G (p.Leu1041Trp) c.4085T>G (p.Leu1362Trp) | |
| 1 | g.197088290A>G | CA343997496 | ASPM | n.3414T>C c.10127T>C (p.Leu3376Ser) c.10349T>C (p.Leu3450Ser) c.10103T>C (p.Leu3368Ser) c.5372T>C (p.Leu1791Ser) c.3122T>C (p.Leu1041Ser) c.4085T>C (p.Leu1362Ser) | |
| 1 | g.197088290A>T | CA343997498 | ASPM | n.3414T>A c.10127T>A (p.Leu3376Ter) c.10349T>A (p.Leu3450Ter) c.10103T>A (p.Leu3368Ter) c.5372T>A (p.Leu1791Ter) c.3122T>A (p.Leu1041Ter) c.4085T>A (p.Leu1362Ter) | |
| 1 | g.197088291A= | CA1217923495 | ASPM | n.3413T= c.10126T= (p.Leu3376=) c.10348T= (p.Leu3450=) c.10102T= (p.Leu3368=) c.5371T= (p.Leu1791=) c.3121T= (p.Leu1041=) c.4084T= (p.Leu1362=) | |
| 1 | g.197088291A>C | CA343997499 | ASPM | n.3413T>G c.10126T>G (p.Leu3376Val) c.10348T>G (p.Leu3450Val) c.10102T>G (p.Leu3368Val) c.5371T>G (p.Leu1791Val) c.3121T>G (p.Leu1041Val) c.4084T>G (p.Leu1362Val) | |
| 1 | g.197088291A>G | CA1308793 | ASPM | n.3413T>C c.10126T>C (p.Leu3376=) c.10348T>C (p.Leu3450=) c.10102T>C (p.Leu3368=) c.5371T>C (p.Leu1791=) c.3121T>C (p.Leu1041=) c.4084T>C (p.Leu1362=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088291A>T | CA343997500 | ASPM | n.3413T>A c.10126T>A (p.Leu3376Met) c.10348T>A (p.Leu3450Met) c.10102T>A (p.Leu3368Met) c.5371T>A (p.Leu1791Met) c.3121T>A (p.Leu1041Met) c.4084T>A (p.Leu1362Met) | |
| 1 | g.197088292C>A | CA343997506 | ASPM | n.3412G>T c.10125G>T (p.Leu3375Phe) c.10347G>T (p.Leu3449Phe) c.10101G>T (p.Leu3367Phe) c.5370G>T (p.Leu1790Phe) c.3120G>T (p.Leu1040Phe) c.4083G>T (p.Leu1361Phe) | |
| 1 | g.197088292C>G | CA343997510 | ASPM | n.3412G>C c.10125G>C (p.Leu3375Phe) c.10347G>C (p.Leu3449Phe) c.10101G>C (p.Leu3367Phe) c.5370G>C (p.Leu1790Phe) c.3120G>C (p.Leu1040Phe) c.4083G>C (p.Leu1361Phe) | |
| 1 | g.197088292C>T | CA422672165 | ASPM | n.3412G>A c.10125G>A (p.Leu3375=) c.10347G>A (p.Leu3449=) c.10101G>A (p.Leu3367=) c.5370G>A (p.Leu1790=) c.3120G>A (p.Leu1040=) c.4083G>A (p.Leu1361=) | |
| 1 | g.197088293A>C | CA343997515 | ASPM | n.3411T>G c.10124T>G (p.Leu3375Trp) c.10346T>G (p.Leu3449Trp) c.10100T>G (p.Leu3367Trp) c.5369T>G (p.Leu1790Trp) c.3119T>G (p.Leu1040Trp) c.4082T>G (p.Leu1361Trp) | |
| 1 | g.197088293A>G | CA343997517 | ASPM | n.3411T>C c.10124T>C (p.Leu3375Ser) c.10346T>C (p.Leu3449Ser) c.10100T>C (p.Leu3367Ser) c.5369T>C (p.Leu1790Ser) c.3119T>C (p.Leu1040Ser) c.4082T>C (p.Leu1361Ser) | |
| 1 | g.197088293A>T | CA343997524 | ASPM | n.3411T>A c.10124T>A (p.Leu3375Ter) c.10346T>A (p.Leu3449Ter) c.10100T>A (p.Leu3367Ter) c.5369T>A (p.Leu1790Ter) c.3119T>A (p.Leu1040Ter) c.4082T>A (p.Leu1361Ter) | |
| 1 | g.197088293_197088296delinsAAAC | CA1217923496 | ASPM | n.3408_3411delinsGTTT c.10121_10124delinsGTTT (p.Cys3374=) c.10343_10346delinsGTTT (p.Cys3448=) c.10097_10100delinsGTTT (p.Cys3366=) c.5366_5369delinsGTTT (p.Cys1789=) c.3116_3119delinsGTTT (p.Cys1039=) c.4079_4082delinsGTTT (p.Cys1360=) | |
| 1 | g.197088294A>C | CA343997526 | ASPM | n.3410T>G c.10123T>G (p.Leu3375Val) c.10345T>G (p.Leu3449Val) c.10099T>G (p.Leu3367Val) c.5368T>G (p.Leu1790Val) c.3118T>G (p.Leu1040Val) c.4081T>G (p.Leu1361Val) | |
| 1 | g.197088294A>G | CA422672166 | ASPM | n.3410T>C c.10123T>C (p.Leu3375=) c.10345T>C (p.Leu3449=) c.10099T>C (p.Leu3367=) c.5368T>C (p.Leu1790=) c.3118T>C (p.Leu1040=) c.4081T>C (p.Leu1361=) | gnomAD v4 |
| 1 | g.197088294A>T | CA343997528 | ASPM | n.3410T>A c.10123T>A (p.Leu3375Met) c.10345T>A (p.Leu3449Met) c.10099T>A (p.Leu3367Met) c.5368T>A (p.Leu1790Met) c.3118T>A (p.Leu1040Met) c.4081T>A (p.Leu1361Met) | gnomAD v4 |
| 1 | g.197088299_197088301del | CA528535060 | ASPM | n.3408_3410del c.10121_10123del (p.Cys3374del) c.10343_10345del (p.Cys3448del) c.10097_10099del (p.Cys3366del) c.5366_5368del (p.Cys1789del) c.3116_3118del (p.Cys1039del) c.4079_4081del (p.Cys1360del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088295A>C | CA343997532 | ASPM | n.3409T>G c.10122T>G (p.Cys3374Trp) c.10344T>G (p.Cys3448Trp) c.10098T>G (p.Cys3366Trp) c.5367T>G (p.Cys1789Trp) c.3117T>G (p.Cys1039Trp) c.4080T>G (p.Cys1360Trp) | |
| 1 | g.197088295A>G | CA422672167 | ASPM | n.3409T>C c.10122T>C (p.Cys3374=) c.10344T>C (p.Cys3448=) c.10098T>C (p.Cys3366=) c.5367T>C (p.Cys1789=) c.3117T>C (p.Cys1039=) c.4080T>C (p.Cys1360=) | |
| 1 | g.197088295A>T | CA343997556 | ASPM | n.3409T>A c.10122T>A (p.Cys3374Ter) c.10344T>A (p.Cys3448Ter) c.10098T>A (p.Cys3366Ter) c.5367T>A (p.Cys1789Ter) c.3117T>A (p.Cys1039Ter) c.4080T>A (p.Cys1360Ter) | |
| 1 | g.197088296C>A | CA343997557 | ASPM | n.3408G>T c.10121G>T (p.Cys3374Phe) c.10343G>T (p.Cys3448Phe) c.10097G>T (p.Cys3366Phe) c.5366G>T (p.Cys1789Phe) c.3116G>T (p.Cys1039Phe) c.4079G>T (p.Cys1360Phe) | |
| 1 | g.197088296C>G | CA343997559 | ASPM | n.3408G>C c.10121G>C (p.Cys3374Ser) c.10343G>C (p.Cys3448Ser) c.10097G>C (p.Cys3366Ser) c.5366G>C (p.Cys1789Ser) c.3116G>C (p.Cys1039Ser) c.4079G>C (p.Cys1360Ser) | |
| 1 | g.197088296C>T | CA343997568 | ASPM | n.3408G>A c.10121G>A (p.Cys3374Tyr) c.10343G>A (p.Cys3448Tyr) c.10097G>A (p.Cys3366Tyr) c.5366G>A (p.Cys1789Tyr) c.3116G>A (p.Cys1039Tyr) c.4079G>A (p.Cys1360Tyr) | |
| 1 | g.197088297A>C | CA343997576 | ASPM | n.3407T>G c.10120T>G (p.Cys3374Gly) c.10342T>G (p.Cys3448Gly) c.10096T>G (p.Cys3366Gly) c.5365T>G (p.Cys1789Gly) c.3115T>G (p.Cys1039Gly) c.4078T>G (p.Cys1360Gly) | |
| 1 | g.197088297A>G | CA343997578 | ASPM | n.3407T>C c.10120T>C (p.Cys3374Arg) c.10342T>C (p.Cys3448Arg) c.10096T>C (p.Cys3366Arg) c.5365T>C (p.Cys1789Arg) c.3115T>C (p.Cys1039Arg) c.4078T>C (p.Cys1360Arg) | |
| 1 | g.197088297A>T | CA343997582 | ASPM | n.3407T>A c.10120T>A (p.Cys3374Ser) c.10342T>A (p.Cys3448Ser) c.10096T>A (p.Cys3366Ser) c.5365T>A (p.Cys1789Ser) c.3115T>A (p.Cys1039Ser) c.4078T>A (p.Cys1360Ser) | |
| 1 | g.197088298A>C | CA343997590 | ASPM | n.3406T>G c.10119T>G (p.Cys3373Trp) c.10341T>G (p.Cys3447Trp) c.10095T>G (p.Cys3365Trp) c.5364T>G (p.Cys1788Trp) c.3114T>G (p.Cys1038Trp) c.4077T>G (p.Cys1359Trp) | |
| 1 | g.197088298A>G | CA422672168 | ASPM | n.3406T>C c.10119T>C (p.Cys3373=) c.10341T>C (p.Cys3447=) c.10095T>C (p.Cys3365=) c.5364T>C (p.Cys1788=) c.3114T>C (p.Cys1038=) c.4077T>C (p.Cys1359=) | gnomAD v4 |
| 1 | g.197088298A>T | CA343997597 | ASPM | n.3406T>A c.10119T>A (p.Cys3373Ter) c.10341T>A (p.Cys3447Ter) c.10095T>A (p.Cys3365Ter) c.5364T>A (p.Cys1788Ter) c.3114T>A (p.Cys1038Ter) c.4077T>A (p.Cys1359Ter) | |
| 1 | g.197088299C>A | CA343997601 | ASPM | n.3405G>T c.10118G>T (p.Cys3373Phe) c.10340G>T (p.Cys3447Phe) c.10094G>T (p.Cys3365Phe) c.5363G>T (p.Cys1788Phe) c.3113G>T (p.Cys1038Phe) c.4076G>T (p.Cys1359Phe) | |
| 1 | g.197088299C= | CA1217923497 | ASPM | n.3405G= c.10118G= (p.Cys3373=) c.10340G= (p.Cys3447=) c.10094G= (p.Cys3365=) c.5363G= (p.Cys1788=) c.3113G= (p.Cys1038=) c.4076G= (p.Cys1359=) | |
| 1 | g.197088299C>G | CA343997613 | ASPM | n.3405G>C c.10118G>C (p.Cys3373Ser) c.10340G>C (p.Cys3447Ser) c.10094G>C (p.Cys3365Ser) c.5363G>C (p.Cys1788Ser) c.3113G>C (p.Cys1038Ser) c.4076G>C (p.Cys1359Ser) | |
| 1 | g.197088299C>T | CA343997622 | ASPM | n.3405G>A c.10118G>A (p.Cys3373Tyr) c.10340G>A (p.Cys3447Tyr) c.10094G>A (p.Cys3365Tyr) c.5363G>A (p.Cys1788Tyr) c.3113G>A (p.Cys1038Tyr) c.4076G>A (p.Cys1359Tyr) | ClinVar dbSNP |
| 1 | g.197088300A>C | CA343997655 | ASPM | n.3404T>G c.10117T>G (p.Cys3373Gly) c.10339T>G (p.Cys3447Gly) c.10093T>G (p.Cys3365Gly) c.5362T>G (p.Cys1788Gly) c.3112T>G (p.Cys1038Gly) c.4075T>G (p.Cys1359Gly) | COSMIC |
| 1 | g.197088300A>G | CA343997645 | ASPM | n.3404T>C c.10117T>C (p.Cys3373Arg) c.10339T>C (p.Cys3447Arg) c.10093T>C (p.Cys3365Arg) c.5362T>C (p.Cys1788Arg) c.3112T>C (p.Cys1038Arg) c.4075T>C (p.Cys1359Arg) | |
| 1 | g.197088300A>T | CA343997643 | ASPM | n.3404T>A c.10117T>A (p.Cys3373Ser) c.10339T>A (p.Cys3447Ser) c.10093T>A (p.Cys3365Ser) c.5362T>A (p.Cys1788Ser) c.3112T>A (p.Cys1038Ser) c.4075T>A (p.Cys1359Ser) | |
| 1 | g.197088301A>C | CA422672169 | ASPM | n.3403T>G c.10116T>G (p.Thr3372=) c.10338T>G (p.Thr3446=) c.10092T>G (p.Thr3364=) c.5361T>G (p.Thr1787=) c.3111T>G (p.Thr1037=) c.4074T>G (p.Thr1358=) | |
| 1 | g.197088301A>G | CA422672170 | ASPM | n.3403T>C c.10116T>C (p.Thr3372=) c.10338T>C (p.Thr3446=) c.10092T>C (p.Thr3364=) c.5361T>C (p.Thr1787=) c.3111T>C (p.Thr1037=) c.4074T>C (p.Thr1358=) | |
| 1 | g.197088301A>T | CA422672171 | ASPM | n.3403T>A c.10116T>A (p.Thr3372=) c.10338T>A (p.Thr3446=) c.10092T>A (p.Thr3364=) c.5361T>A (p.Thr1787=) c.3111T>A (p.Thr1037=) c.4074T>A (p.Thr1358=) | |
| 1 | g.197088302G>A | CA343997658 | ASPM | n.3402C>T c.10115C>T (p.Thr3372Ile) c.10337C>T (p.Thr3446Ile) c.10091C>T (p.Thr3364Ile) c.5360C>T (p.Thr1787Ile) c.3110C>T (p.Thr1037Ile) c.4073C>T (p.Thr1358Ile) | COSMIC |
| 1 | g.197088302G>C | CA343997663 | ASPM | n.3402C>G c.10115C>G (p.Thr3372Ser) c.10337C>G (p.Thr3446Ser) c.10091C>G (p.Thr3364Ser) c.5360C>G (p.Thr1787Ser) c.3110C>G (p.Thr1037Ser) c.4073C>G (p.Thr1358Ser) | |
| 1 | g.197088302G>T | CA343997667 | ASPM | n.3402C>A c.10115C>A (p.Thr3372Asn) c.10337C>A (p.Thr3446Asn) c.10091C>A (p.Thr3364Asn) c.5360C>A (p.Thr1787Asn) c.3110C>A (p.Thr1037Asn) c.4073C>A (p.Thr1358Asn) | |
| 1 | g.197088303T>A | CA343997673 | ASPM | n.3401A>T c.10114A>T (p.Thr3372Ser) c.10336A>T (p.Thr3446Ser) c.10090A>T (p.Thr3364Ser) c.5359A>T (p.Thr1787Ser) c.3109A>T (p.Thr1037Ser) c.4072A>T (p.Thr1358Ser) | |
| 1 | g.197088303T>C | CA343997675 | ASPM | n.3401A>G c.10114A>G (p.Thr3372Ala) c.10336A>G (p.Thr3446Ala) c.10090A>G (p.Thr3364Ala) c.5359A>G (p.Thr1787Ala) c.3109A>G (p.Thr1037Ala) c.4072A>G (p.Thr1358Ala) | dbSNP gnomAD v4 |
| 1 | g.197088303T>G | CA343997677 | ASPM | n.3401A>C c.10114A>C (p.Thr3372Pro) c.10336A>C (p.Thr3446Pro) c.10090A>C (p.Thr3364Pro) c.5359A>C (p.Thr1787Pro) c.3109A>C (p.Thr1037Pro) c.4072A>C (p.Thr1358Pro) | |
| 1 | g.197088303T= | CA1217923499 | ASPM | n.3401A= c.10114A= (p.Thr3372=) c.10336A= (p.Thr3446=) c.10090A= (p.Thr3364=) c.5359A= (p.Thr1787=) c.3109A= (p.Thr1037=) c.4072A= (p.Thr1358=) | |
| 1 | g.197088304T>A | CA343997682 | ASPM | n.3400A>T c.10113A>T (p.Lys3371Asn) c.10335A>T (p.Lys3445Asn) c.10089A>T (p.Lys3363Asn) c.5358A>T (p.Lys1786Asn) c.3108A>T (p.Lys1036Asn) c.4071A>T (p.Lys1357Asn) | |
| 1 | g.197088304T>C | CA422672172 | ASPM | n.3400A>G c.10113A>G (p.Lys3371=) c.10335A>G (p.Lys3445=) c.10089A>G (p.Lys3363=) c.5358A>G (p.Lys1786=) c.3108A>G (p.Lys1036=) c.4071A>G (p.Lys1357=) | |
| 1 | g.197088304T>G | CA1308794 | ASPM | n.3400A>C c.10113A>C (p.Lys3371Asn) c.10335A>C (p.Lys3445Asn) c.10089A>C (p.Lys3363Asn) c.5358A>C (p.Lys1786Asn) c.3108A>C (p.Lys1036Asn) c.4071A>C (p.Lys1357Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088304T= | CA1217923504 | ASPM | n.3400A= c.10113A= (p.Lys3371=) c.10335A= (p.Lys3445=) c.10089A= (p.Lys3363=) c.5358A= (p.Lys1786=) c.3108A= (p.Lys1036=) c.4071A= (p.Lys1357=) | |
| 1 | g.197088305T>A | CA343997683 | ASPM | n.3399A>T c.10112A>T (p.Lys3371Ile) c.10334A>T (p.Lys3445Ile) c.10088A>T (p.Lys3363Ile) c.5357A>T (p.Lys1786Ile) c.3107A>T (p.Lys1036Ile) c.4070A>T (p.Lys1357Ile) | |
| 1 | g.197088305T>C | CA343997685 | ASPM | n.3399A>G c.10112A>G (p.Lys3371Arg) c.10334A>G (p.Lys3445Arg) c.10088A>G (p.Lys3363Arg) c.5357A>G (p.Lys1786Arg) c.3107A>G (p.Lys1036Arg) c.4070A>G (p.Lys1357Arg) | |
| 1 | g.197088305T>G | CA343997688 | ASPM | n.3399A>C c.10112A>C (p.Lys3371Thr) c.10334A>C (p.Lys3445Thr) c.10088A>C (p.Lys3363Thr) c.5357A>C (p.Lys1786Thr) c.3107A>C (p.Lys1036Thr) c.4070A>C (p.Lys1357Thr) | COSMIC |
| 1 | g.197088306T>A | CA343997696 | ASPM | n.3398A>T c.10111A>T (p.Lys3371Ter) c.10333A>T (p.Lys3445Ter) c.10087A>T (p.Lys3363Ter) c.5356A>T (p.Lys1786Ter) c.3106A>T (p.Lys1036Ter) c.4069A>T (p.Lys1357Ter) | |
| 1 | g.197088306T>C | CA343997699 | ASPM | n.3398A>G c.10111A>G (p.Lys3371Glu) c.10333A>G (p.Lys3445Glu) c.10087A>G (p.Lys3363Glu) c.5356A>G (p.Lys1786Glu) c.3106A>G (p.Lys1036Glu) c.4069A>G (p.Lys1357Glu) | dbSNP |
| 1 | g.197088306T>G | CA343997711 | ASPM | n.3398A>C c.10111A>C (p.Lys3371Gln) c.10333A>C (p.Lys3445Gln) c.10087A>C (p.Lys3363Gln) c.5356A>C (p.Lys1786Gln) c.3106A>C (p.Lys1036Gln) c.4069A>C (p.Lys1357Gln) | |
| 1 | g.197088306T= | CA1217923511 | ASPM | n.3398A= c.10111A= (p.Lys3371=) c.10333A= (p.Lys3445=) c.10087A= (p.Lys3363=) c.5356A= (p.Lys1786=) c.3106A= (p.Lys1036=) c.4069A= (p.Lys1357=) | |
| 1 | g.197088307T>A | CA422672173 | ASPM | n.3397A>T c.10110A>T (p.Thr3370=) c.10332A>T (p.Thr3444=) c.10086A>T (p.Thr3362=) c.5355A>T (p.Thr1785=) c.3105A>T (p.Thr1035=) c.4068A>T (p.Thr1356=) | |
| 1 | g.197088307T>C | CA422672174 | ASPM | n.3397A>G c.10110A>G (p.Thr3370=) c.10332A>G (p.Thr3444=) c.10086A>G (p.Thr3362=) c.5355A>G (p.Thr1785=) c.3105A>G (p.Thr1035=) c.4068A>G (p.Thr1356=) | |
| 1 | g.197088307T>G | CA422672175 | ASPM | n.3397A>C c.10110A>C (p.Thr3370=) c.10332A>C (p.Thr3444=) c.10086A>C (p.Thr3362=) c.5355A>C (p.Thr1785=) c.3105A>C (p.Thr1035=) c.4068A>C (p.Thr1356=) | |
| 1 | g.197088308G>A | CA343997712 | ASPM | n.3396C>T c.10109C>T (p.Thr3370Ile) c.10331C>T (p.Thr3444Ile) c.10085C>T (p.Thr3362Ile) c.5354C>T (p.Thr1785Ile) c.3104C>T (p.Thr1035Ile) c.4067C>T (p.Thr1356Ile) | gnomAD v4 |
| 1 | g.197088308G>C | CA270991 | ASPM | n.3396C>G c.10109C>G (p.Thr3370Arg) c.10331C>G (p.Thr3444Arg) c.10085C>G (p.Thr3362Arg) c.5354C>G (p.Thr1785Arg) c.3104C>G (p.Thr1035Arg) c.4067C>G (p.Thr1356Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088308G= | CA1148224795 | ASPM | n.3396C= c.10109C= (p.Thr3370=) c.10331C= (p.Thr3444=) c.10085C= (p.Thr3362=) c.5354C= (p.Thr1785=) c.3104C= (p.Thr1035=) c.4067C= (p.Thr1356=) | |
| 1 | g.197088308G>T | CA343997713 | ASPM | n.3396C>A c.10109C>A (p.Thr3370Lys) c.10331C>A (p.Thr3444Lys) c.10085C>A (p.Thr3362Lys) c.5354C>A (p.Thr1785Lys) c.3104C>A (p.Thr1035Lys) c.4067C>A (p.Thr1356Lys) | |
| 1 | g.197088309T>A | CA343997719 | ASPM | n.3395A>T c.10108A>T (p.Thr3370Ser) c.10330A>T (p.Thr3444Ser) c.10084A>T (p.Thr3362Ser) c.5353A>T (p.Thr1785Ser) c.3103A>T (p.Thr1035Ser) c.4066A>T (p.Thr1356Ser) | |
| 1 | g.197088309T>C | CA343997720 | ASPM | n.3395A>G c.10108A>G (p.Thr3370Ala) c.10330A>G (p.Thr3444Ala) c.10084A>G (p.Thr3362Ala) c.5353A>G (p.Thr1785Ala) c.3103A>G (p.Thr1035Ala) c.4066A>G (p.Thr1356Ala) | gnomAD v4 |
| 1 | g.197088309T>G | CA343997723 | ASPM | n.3395A>C c.10108A>C (p.Thr3370Pro) c.10330A>C (p.Thr3444Pro) c.10084A>C (p.Thr3362Pro) c.5353A>C (p.Thr1785Pro) c.3103A>C (p.Thr1035Pro) c.4066A>C (p.Thr1356Pro) | |
| 1 | g.197088310A= | CA1217923516 | ASPM | n.3394T= c.10107T= (p.Phe3369=) c.10329T= (p.Phe3443=) c.10083T= (p.Phe3361=) c.5352T= (p.Phe1784=) c.3102T= (p.Phe1034=) c.4065T= (p.Phe1355=) | |
| 1 | g.197088310A>C | CA343997727 | ASPM | n.3394T>G c.10107T>G (p.Phe3369Leu) c.10329T>G (p.Phe3443Leu) c.10083T>G (p.Phe3361Leu) c.5352T>G (p.Phe1784Leu) c.3102T>G (p.Phe1034Leu) c.4065T>G (p.Phe1355Leu) | |
| 1 | g.197088310A>G | CA422672176 | ASPM | n.3394T>C c.10107T>C (p.Phe3369=) c.10329T>C (p.Phe3443=) c.10083T>C (p.Phe3361=) c.5352T>C (p.Phe1784=) c.3102T>C (p.Phe1034=) c.4065T>C (p.Phe1355=) | dbSNP |
| 1 | g.197088310A>T | CA343997728 | ASPM | n.3394T>A c.10107T>A (p.Phe3369Leu) c.10329T>A (p.Phe3443Leu) c.10083T>A (p.Phe3361Leu) c.5352T>A (p.Phe1784Leu) c.3102T>A (p.Phe1034Leu) c.4065T>A (p.Phe1355Leu) | |
| 1 | g.197088314dup | CA2649660431 | ASPM | n.3394dup c.10107dup (p.Thr3370TyrfsTer16) c.10329dup (p.Thr3444TyrfsTer16) c.10083dup (p.Thr3362TyrfsTer16) c.5352dup (p.Thr1785TyrfsTer16) c.3102dup (p.Thr1035TyrfsTer16) c.4065dup (p.Thr1356TyrfsTer16) | gnomAD v4 |
| 1 | g.197088311A= | CA1217923517 | ASPM | n.3393T= c.10106T= (p.Phe3369=) c.10328T= (p.Phe3443=) c.10082T= (p.Phe3361=) c.5351T= (p.Phe1784=) c.3101T= (p.Phe1034=) c.4064T= (p.Phe1355=) | |
| 1 | g.197088311A>C | CA343997732 | ASPM | n.3393T>G c.10106T>G (p.Phe3369Cys) c.10328T>G (p.Phe3443Cys) c.10082T>G (p.Phe3361Cys) c.5351T>G (p.Phe1784Cys) c.3101T>G (p.Phe1034Cys) c.4064T>G (p.Phe1355Cys) | |
| 1 | g.197088311A>G | CA343997733 | ASPM | n.3393T>C c.10106T>C (p.Phe3369Ser) c.10328T>C (p.Phe3443Ser) c.10082T>C (p.Phe3361Ser) c.5351T>C (p.Phe1784Ser) c.3101T>C (p.Phe1034Ser) c.4064T>C (p.Phe1355Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088311A>T | CA343997734 | ASPM | n.3393T>A c.10106T>A (p.Phe3369Tyr) c.10328T>A (p.Phe3443Tyr) c.10082T>A (p.Phe3361Tyr) c.5351T>A (p.Phe1784Tyr) c.3101T>A (p.Phe1034Tyr) c.4064T>A (p.Phe1355Tyr) | gnomAD v4 |
| 1 | g.197088312A>C | CA343997735 | ASPM | n.3392T>G c.10105T>G (p.Phe3369Val) c.10327T>G (p.Phe3443Val) c.10081T>G (p.Phe3361Val) c.5350T>G (p.Phe1784Val) c.3100T>G (p.Phe1034Val) c.4063T>G (p.Phe1355Val) | |
| 1 | g.197088312A>G | CA343997737 | ASPM | n.3392T>C c.10105T>C (p.Phe3369Leu) c.10327T>C (p.Phe3443Leu) c.10081T>C (p.Phe3361Leu) c.5350T>C (p.Phe1784Leu) c.3100T>C (p.Phe1034Leu) c.4063T>C (p.Phe1355Leu) | |
| 1 | g.197088312A>T | CA343997738 | ASPM | n.3392T>A c.10105T>A (p.Phe3369Ile) c.10327T>A (p.Phe3443Ile) c.10081T>A (p.Phe3361Ile) c.5350T>A (p.Phe1784Ile) c.3100T>A (p.Phe1034Ile) c.4063T>A (p.Phe1355Ile) | |
| 1 | g.197088313A>C | CA343997739 | ASPM | n.3391T>G c.10104T>G (p.Ile3368Met) c.10326T>G (p.Ile3442Met) c.10080T>G (p.Ile3360Met) c.5349T>G (p.Ile1783Met) c.3099T>G (p.Ile1033Met) c.4062T>G (p.Ile1354Met) | |
| 1 | g.197088313A>G | CA422672177 | ASPM | n.3391T>C c.10104T>C (p.Ile3368=) c.10326T>C (p.Ile3442=) c.10080T>C (p.Ile3360=) c.5349T>C (p.Ile1783=) c.3099T>C (p.Ile1033=) c.4062T>C (p.Ile1354=) | |
| 1 | g.197088313A>T | CA422672178 | ASPM | n.3391T>A c.10104T>A (p.Ile3368=) c.10326T>A (p.Ile3442=) c.10080T>A (p.Ile3360=) c.5349T>A (p.Ile1783=) c.3099T>A (p.Ile1033=) c.4062T>A (p.Ile1354=) | |
| 1 | g.197088314A>C | CA343997747 | ASPM | n.3390T>G c.10103T>G (p.Ile3368Ser) c.10325T>G (p.Ile3442Ser) c.10079T>G (p.Ile3360Ser) c.5348T>G (p.Ile1783Ser) c.3098T>G (p.Ile1033Ser) c.4061T>G (p.Ile1354Ser) | |
| 1 | g.197088314A>G | CA343997742 | ASPM | n.3390T>C c.10103T>C (p.Ile3368Thr) c.10325T>C (p.Ile3442Thr) c.10079T>C (p.Ile3360Thr) c.5348T>C (p.Ile1783Thr) c.3098T>C (p.Ile1033Thr) c.4061T>C (p.Ile1354Thr) | |
| 1 | g.197088314A>T | CA343997749 | ASPM | n.3390T>A c.10103T>A (p.Ile3368Asn) c.10325T>A (p.Ile3442Asn) c.10079T>A (p.Ile3360Asn) c.5348T>A (p.Ile1783Asn) c.3098T>A (p.Ile1033Asn) c.4061T>A (p.Ile1354Asn) | |
| 1 | g.197088315T>A | CA343997755 | ASPM | n.3389A>T c.10102A>T (p.Ile3368Phe) c.10324A>T (p.Ile3442Phe) c.10078A>T (p.Ile3360Phe) c.5347A>T (p.Ile1783Phe) c.3097A>T (p.Ile1033Phe) c.4060A>T (p.Ile1354Phe) | dbSNP |
| 1 | g.197088315T>C | CA343997786 | ASPM | n.3389A>G c.10102A>G (p.Ile3368Val) c.10324A>G (p.Ile3442Val) c.10078A>G (p.Ile3360Val) c.5347A>G (p.Ile1783Val) c.3097A>G (p.Ile1033Val) c.4060A>G (p.Ile1354Val) | |
| 1 | g.197088315T>G | CA343997788 | ASPM | n.3389A>C c.10102A>C (p.Ile3368Leu) c.10324A>C (p.Ile3442Leu) c.10078A>C (p.Ile3360Leu) c.5347A>C (p.Ile1783Leu) c.3097A>C (p.Ile1033Leu) c.4060A>C (p.Ile1354Leu) | |
| 1 | g.197088315T= | CA1217923520 | ASPM | n.3389A= c.10102A= (p.Ile3368=) c.10324A= (p.Ile3442=) c.10078A= (p.Ile3360=) c.5347A= (p.Ile1783=) c.3097A= (p.Ile1033=) c.4060A= (p.Ile1354=) | |
| 1 | g.197088316G>A | CA422672179 | ASPM | n.3388C>T c.10101C>T (p.Ser3367=) c.10323C>T (p.Ser3441=) c.10077C>T (p.Ser3359=) c.5346C>T (p.Ser1782=) c.3096C>T (p.Ser1032=) c.4059C>T (p.Ser1353=) | |
| 1 | g.197088316G>C | CA343997795 | ASPM | n.3388C>G c.10101C>G (p.Ser3367Arg) c.10323C>G (p.Ser3441Arg) c.10077C>G (p.Ser3359Arg) c.5346C>G (p.Ser1782Arg) c.3096C>G (p.Ser1032Arg) c.4059C>G (p.Ser1353Arg) | |
| 1 | g.197088316G>T | CA343997813 | ASPM | n.3388C>A c.10101C>A (p.Ser3367Arg) c.10323C>A (p.Ser3441Arg) c.10077C>A (p.Ser3359Arg) c.5346C>A (p.Ser1782Arg) c.3096C>A (p.Ser1032Arg) c.4059C>A (p.Ser1353Arg) | |
| 1 | g.197088317C>A | CA343997831 | ASPM | n.3387G>T c.10100G>T (p.Ser3367Ile) c.10322G>T (p.Ser3441Ile) c.10076G>T (p.Ser3359Ile) c.5345G>T (p.Ser1782Ile) c.3095G>T (p.Ser1032Ile) c.4058G>T (p.Ser1353Ile) | |
| 1 | g.197088317C= | CA1148224797 | ASPM | n.3387G= c.10100G= (p.Ser3367=) c.10322G= (p.Ser3441=) c.10076G= (p.Ser3359=) c.5345G= (p.Ser1782=) c.3095G= (p.Ser1032=) c.4058G= (p.Ser1353=) | |
| 1 | g.197088317C>G | CA343997832 | ASPM | n.3387G>C c.10100G>C (p.Ser3367Thr) c.10322G>C (p.Ser3441Thr) c.10076G>C (p.Ser3359Thr) c.5345G>C (p.Ser1782Thr) c.3095G>C (p.Ser1032Thr) c.4058G>C (p.Ser1353Thr) | |
| 1 | g.197088317C>T | CA270989 | ASPM | n.3387G>A c.10100G>A (p.Ser3367Asn) c.10322G>A (p.Ser3441Asn) c.10076G>A (p.Ser3359Asn) c.5345G>A (p.Ser1782Asn) c.3095G>A (p.Ser1032Asn) c.4058G>A (p.Ser1353Asn) | ClinVar dbSNP gnomAD v4 |
| 1 | g.197088318T>A | CA343997838 | ASPM | n.3386A>T c.10099A>T (p.Ser3367Cys) c.10321A>T (p.Ser3441Cys) c.10075A>T (p.Ser3359Cys) c.5344A>T (p.Ser1782Cys) c.3094A>T (p.Ser1032Cys) c.4057A>T (p.Ser1353Cys) | |
| 1 | g.197088318T>C | CA35861056 | ASPM | n.3386A>G c.10099A>G (p.Ser3367Gly) c.10321A>G (p.Ser3441Gly) c.10075A>G (p.Ser3359Gly) c.5344A>G (p.Ser1782Gly) c.3094A>G (p.Ser1032Gly) c.4057A>G (p.Ser1353Gly) | dbSNP |
| 1 | g.197088318T>G | CA343997841 | ASPM | n.3386A>C c.10099A>C (p.Ser3367Arg) c.10321A>C (p.Ser3441Arg) c.10075A>C (p.Ser3359Arg) c.5344A>C (p.Ser1782Arg) c.3094A>C (p.Ser1032Arg) c.4057A>C (p.Ser1353Arg) | |
| 1 | g.197088318T= | CA1217923529 | ASPM | n.3386A= c.10099A= (p.Ser3367=) c.10321A= (p.Ser3441=) c.10075A= (p.Ser3359=) c.5344A= (p.Ser1782=) c.3094A= (p.Ser1032=) c.4057A= (p.Ser1353=) | |
| 1 | g.197088319T>A | CA422672180 | ASPM | n.3385A>T c.10098A>T (p.Gly3366=) c.10320A>T (p.Gly3440=) c.10074A>T (p.Gly3358=) c.5343A>T (p.Gly1781=) c.3093A>T (p.Gly1031=) c.4056A>T (p.Gly1352=) | gnomAD v4 |
| 1 | g.197088319T>C | CA422672181 | ASPM | n.3385A>G c.10098A>G (p.Gly3366=) c.10320A>G (p.Gly3440=) c.10074A>G (p.Gly3358=) c.5343A>G (p.Gly1781=) c.3093A>G (p.Gly1031=) c.4056A>G (p.Gly1352=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.197088319T>G | CA422672182 | ASPM | n.3385A>C c.10098A>C (p.Gly3366=) c.10320A>C (p.Gly3440=) c.10074A>C (p.Gly3358=) c.5343A>C (p.Gly1781=) c.3093A>C (p.Gly1031=) c.4056A>C (p.Gly1352=) | |
| 1 | g.197088319T= | CA1217923531 | ASPM | n.3385A= c.10098A= (p.Gly3366=) c.10320A= (p.Gly3440=) c.10074A= (p.Gly3358=) c.5343A= (p.Gly1781=) c.3093A= (p.Gly1031=) c.4056A= (p.Gly1352=) | |
| 1 | g.197088319_197088320del | CA2586967834 | ASPM | n.3384_3385del c.10097_10098del (p.Gly3366GlufsTer19) c.10319_10320del (p.Gly3440GlufsTer19) c.10073_10074del (p.Gly3358GlufsTer19) c.5342_5343del (p.Gly1781GlufsTer19) c.3092_3093del (p.Gly1031GlufsTer19) c.4055_4056del (p.Gly1352GlufsTer19) | |
| 1 | g.197088320C>A | CA343997846 | ASPM | n.3384G>T c.10097G>T (p.Gly3366Val) c.10319G>T (p.Gly3440Val) c.10073G>T (p.Gly3358Val) c.5342G>T (p.Gly1781Val) c.3092G>T (p.Gly1031Val) c.4055G>T (p.Gly1352Val) | |
| 1 | g.197088320C>G | CA343997845 | ASPM | n.3384G>C c.10097G>C (p.Gly3366Ala) c.10319G>C (p.Gly3440Ala) c.10073G>C (p.Gly3358Ala) c.5342G>C (p.Gly1781Ala) c.3092G>C (p.Gly1031Ala) c.4055G>C (p.Gly1352Ala) | |
| 1 | g.197088320C>T | CA343997842 | ASPM | n.3384G>A c.10097G>A (p.Gly3366Glu) c.10319G>A (p.Gly3440Glu) c.10073G>A (p.Gly3358Glu) c.5342G>A (p.Gly1781Glu) c.3092G>A (p.Gly1031Glu) c.4055G>A (p.Gly1352Glu) | |
| 1 | g.197088321C>A | CA343997847 | ASPM | n.3383G>T c.10096G>T (p.Gly3366Ter) c.10318G>T (p.Gly3440Ter) c.10072G>T (p.Gly3358Ter) c.5341G>T (p.Gly1781Ter) c.3091G>T (p.Gly1031Ter) c.4054G>T (p.Gly1352Ter) | |
| 1 | g.197088321C= | CA1143498565 | ASPM | n.3383G= c.10096G= (p.Gly3366=) c.10318G= (p.Gly3440=) c.10072G= (p.Gly3358=) c.5341G= (p.Gly1781=) c.3091G= (p.Gly1031=) c.4054G= (p.Gly1352=) | |
| 1 | g.197088321C>G | CA343997849 | ASPM | n.3383G>C c.10096G>C (p.Gly3366Arg) c.10318G>C (p.Gly3440Arg) c.10072G>C (p.Gly3358Arg) c.5341G>C (p.Gly1781Arg) c.3091G>C (p.Gly1031Arg) c.4054G>C (p.Gly1352Arg) | |
| 1 | g.197088321C>T | CA1308795 | ASPM | n.3383G>A c.10096G>A (p.Gly3366Arg) c.10318G>A (p.Gly3440Arg) c.10072G>A (p.Gly3358Arg) c.5341G>A (p.Gly1781Arg) c.3091G>A (p.Gly1031Arg) c.4054G>A (p.Gly1352Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088322G>A | CA10608698 | ASPM | n.3382C>T c.10095C>T (p.Gly3365=) c.10317C>T (p.Gly3439=) c.10071C>T (p.Gly3357=) c.5340C>T (p.Gly1780=) c.3090C>T (p.Gly1030=) c.4053C>T (p.Gly1351=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197088322G>C | CA422672183 | ASPM | n.3382C>G c.10095C>G (p.Gly3365=) c.10317C>G (p.Gly3439=) c.10071C>G (p.Gly3357=) c.5340C>G (p.Gly1780=) c.3090C>G (p.Gly1030=) c.4053C>G (p.Gly1351=) | |
| 1 | g.197088322G= | CA1217923540 | ASPM | n.3382C= c.10095C= (p.Gly3365=) c.10317C= (p.Gly3439=) c.10071C= (p.Gly3357=) c.5340C= (p.Gly1780=) c.3090C= (p.Gly1030=) c.4053C= (p.Gly1351=) | |
| 1 | g.197088322G>T | CA422672184 | ASPM | n.3382C>A c.10095C>A (p.Gly3365=) c.10317C>A (p.Gly3439=) c.10071C>A (p.Gly3357=) c.5340C>A (p.Gly1780=) c.3090C>A (p.Gly1030=) c.4053C>A (p.Gly1351=) | |
| 1 | g.197088323C>A | CA343997873 | ASPM | n.3381G>T c.10094G>T (p.Gly3365Val) c.10316G>T (p.Gly3439Val) c.10070G>T (p.Gly3357Val) c.5339G>T (p.Gly1780Val) c.3089G>T (p.Gly1030Val) c.4052G>T (p.Gly1351Val) | |
| 1 | g.197088323C= | CA1217923542 | ASPM | n.3381G= c.10094G= (p.Gly3365=) c.10316G= (p.Gly3439=) c.10070G= (p.Gly3357=) c.5339G= (p.Gly1780=) c.3089G= (p.Gly1030=) c.4052G= (p.Gly1351=) | |
| 1 | g.197088323C>G | CA343997874 | ASPM | n.3381G>C c.10094G>C (p.Gly3365Ala) c.10316G>C (p.Gly3439Ala) c.10070G>C (p.Gly3357Ala) c.5339G>C (p.Gly1780Ala) c.3089G>C (p.Gly1030Ala) c.4052G>C (p.Gly1351Ala) | |
| 1 | g.197088323C>T | CA1308796 | ASPM | n.3381G>A c.10094G>A (p.Gly3365Asp) c.10316G>A (p.Gly3439Asp) c.10070G>A (p.Gly3357Asp) c.5339G>A (p.Gly1780Asp) c.3089G>A (p.Gly1030Asp) c.4052G>A (p.Gly1351Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088324C>A | CA343997877 | ASPM | n.3380G>T c.10093G>T (p.Gly3365Cys) c.10315G>T (p.Gly3439Cys) c.10069G>T (p.Gly3357Cys) c.5338G>T (p.Gly1780Cys) c.3088G>T (p.Gly1030Cys) c.4051G>T (p.Gly1351Cys) | |
| 1 | g.197088324C>G | CA343997899 | ASPM | n.3380G>C c.10093G>C (p.Gly3365Arg) c.10315G>C (p.Gly3439Arg) c.10069G>C (p.Gly3357Arg) c.5338G>C (p.Gly1780Arg) c.3088G>C (p.Gly1030Arg) c.4051G>C (p.Gly1351Arg) | |
| 1 | g.197088324C>T | CA343997904 | ASPM | n.3380G>A c.10093G>A (p.Gly3365Ser) c.10315G>A (p.Gly3439Ser) c.10069G>A (p.Gly3357Ser) c.5338G>A (p.Gly1780Ser) c.3088G>A (p.Gly1030Ser) c.4051G>A (p.Gly1351Ser) | gnomAD v4 |
| 1 | g.197088325T>A | CA343997919 | ASPM | n.3379A>T c.10092A>T (p.Lys3364Asn) c.10314A>T (p.Lys3438Asn) c.10068A>T (p.Lys3356Asn) c.5337A>T (p.Lys1779Asn) c.3087A>T (p.Lys1029Asn) c.4050A>T (p.Lys1350Asn) | |
| 1 | g.197088325T>C | CA422672185 | ASPM | n.3379A>G c.10092A>G (p.Lys3364=) c.10314A>G (p.Lys3438=) c.10068A>G (p.Lys3356=) c.5337A>G (p.Lys1779=) c.3087A>G (p.Lys1029=) c.4050A>G (p.Lys1350=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088325T>G | CA343997921 | ASPM | n.3379A>C c.10092A>C (p.Lys3364Asn) c.10314A>C (p.Lys3438Asn) c.10068A>C (p.Lys3356Asn) c.5337A>C (p.Lys1779Asn) c.3087A>C (p.Lys1029Asn) c.4050A>C (p.Lys1350Asn) | |
| 1 | g.197088325T= | CA1217923544 | ASPM | n.3379A= c.10092A= (p.Lys3364=) c.10314A= (p.Lys3438=) c.10068A= (p.Lys3356=) c.5337A= (p.Lys1779=) c.3087A= (p.Lys1029=) c.4050A= (p.Lys1350=) | |
| 1 | g.197088326T>A | CA343997941 | ASPM | n.3378A>T c.10091A>T (p.Lys3364Ile) c.10313A>T (p.Lys3438Ile) c.10067A>T (p.Lys3356Ile) c.5336A>T (p.Lys1779Ile) c.3086A>T (p.Lys1029Ile) c.4049A>T (p.Lys1350Ile) | |
| 1 | g.197088326T>C | CA343997944 | ASPM | n.3378A>G c.10091A>G (p.Lys3364Arg) c.10313A>G (p.Lys3438Arg) c.10067A>G (p.Lys3356Arg) c.5336A>G (p.Lys1779Arg) c.3086A>G (p.Lys1029Arg) c.4049A>G (p.Lys1350Arg) | |
| 1 | g.197088326T>G | CA343997924 | ASPM | n.3378A>C c.10091A>C (p.Lys3364Thr) c.10313A>C (p.Lys3438Thr) c.10067A>C (p.Lys3356Thr) c.5336A>C (p.Lys1779Thr) c.3086A>C (p.Lys1029Thr) c.4049A>C (p.Lys1350Thr) | |
| 1 | g.197088327T>A | CA343997949 | ASPM | n.3377A>T c.10090A>T (p.Lys3364Ter) c.10312A>T (p.Lys3438Ter) c.10066A>T (p.Lys3356Ter) c.5335A>T (p.Lys1779Ter) c.3085A>T (p.Lys1029Ter) c.4048A>T (p.Lys1350Ter) | |
| 1 | g.197088327T>C | CA1308797 | ASPM | n.3377A>G c.10090A>G (p.Lys3364Glu) c.10312A>G (p.Lys3438Glu) c.10066A>G (p.Lys3356Glu) c.5335A>G (p.Lys1779Glu) c.3085A>G (p.Lys1029Glu) c.4048A>G (p.Lys1350Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.197088327T>G | CA343997955 | ASPM | n.3377A>C c.10090A>C (p.Lys3364Gln) c.10312A>C (p.Lys3438Gln) c.10066A>C (p.Lys3356Gln) c.5335A>C (p.Lys1779Gln) c.3085A>C (p.Lys1029Gln) c.4048A>C (p.Lys1350Gln) | gnomAD v4 |
| 1 | g.197088327T= | CA1149061114 | ASPM | n.3377A= c.10090A= (p.Lys3364=) c.10312A= (p.Lys3438=) c.10066A= (p.Lys3356=) c.5335A= (p.Lys1779=) c.3085A= (p.Lys1029=) c.4048A= (p.Lys1350=) | |
| 1 | g.197088328G>A | CA422672186 | ASPM | n.3376C>T c.10089C>T (p.Asp3363=) c.10311C>T (p.Asp3437=) c.10065C>T (p.Asp3355=) c.5334C>T (p.Asp1778=) c.3084C>T (p.Asp1028=) c.4047C>T (p.Asp1349=) | |
| 1 | g.197088328G>C | CA343997956 | ASPM | n.3376C>G c.10089C>G (p.Asp3363Glu) c.10311C>G (p.Asp3437Glu) c.10065C>G (p.Asp3355Glu) c.5334C>G (p.Asp1778Glu) c.3084C>G (p.Asp1028Glu) c.4047C>G (p.Asp1349Glu) | |
| 1 | g.197088328G>T | CA343997957 | ASPM | n.3376C>A c.10089C>A (p.Asp3363Glu) c.10311C>A (p.Asp3437Glu) c.10065C>A (p.Asp3355Glu) c.5334C>A (p.Asp1778Glu) c.3084C>A (p.Asp1028Glu) c.4047C>A (p.Asp1349Glu) | gnomAD v4 |
| 1 | g.197088329T>A | CA343997978 | ASPM | n.3375A>T c.10088A>T (p.Asp3363Val) c.10310A>T (p.Asp3437Val) c.10064A>T (p.Asp3355Val) c.5333A>T (p.Asp1778Val) c.3083A>T (p.Asp1028Val) c.4046A>T (p.Asp1349Val) | |
| 1 | g.197088329T>C | CA343997967 | ASPM | n.3375A>G c.10088A>G (p.Asp3363Gly) c.10310A>G (p.Asp3437Gly) c.10064A>G (p.Asp3355Gly) c.5333A>G (p.Asp1778Gly) c.3083A>G (p.Asp1028Gly) c.4046A>G (p.Asp1349Gly) | |
| 1 | g.197088329T>G | CA343997961 | ASPM | n.3375A>C c.10088A>C (p.Asp3363Ala) c.10310A>C (p.Asp3437Ala) c.10064A>C (p.Asp3355Ala) c.5333A>C (p.Asp1778Ala) c.3083A>C (p.Asp1028Ala) c.4046A>C (p.Asp1349Ala) | |
| 1 | g.197088330C>A | CA343997988 | ASPM | n.3374G>T c.10087G>T (p.Asp3363Tyr) c.10309G>T (p.Asp3437Tyr) c.10063G>T (p.Asp3355Tyr) c.5332G>T (p.Asp1778Tyr) c.3082G>T (p.Asp1028Tyr) c.4045G>T (p.Asp1349Tyr) | gnomAD v4 |
| 1 | g.197088330C>G | CA343997989 | ASPM | n.3374G>C c.10087G>C (p.Asp3363His) c.10309G>C (p.Asp3437His) c.10063G>C (p.Asp3355His) c.5332G>C (p.Asp1778His) c.3082G>C (p.Asp1028His) c.4045G>C (p.Asp1349His) | |
| 1 | g.197088330C>T | CA343997990 | ASPM | n.3374G>A c.10087G>A (p.Asp3363Asn) c.10309G>A (p.Asp3437Asn) c.10063G>A (p.Asp3355Asn) c.5332G>A (p.Asp1778Asn) c.3082G>A (p.Asp1028Asn) c.4045G>A (p.Asp1349Asn) | |
| 1 | g.197088331T>A | CA422672187 | ASPM | n.3373A>T c.10086A>T (p.Ala3362=) c.10308A>T (p.Ala3436=) c.10062A>T (p.Ala3354=) c.5331A>T (p.Ala1777=) c.3081A>T (p.Ala1027=) c.4044A>T (p.Ala1348=) | |
| 1 | g.197088331T>C | CA422672188 | ASPM | n.3373A>G c.10086A>G (p.Ala3362=) c.10308A>G (p.Ala3436=) c.10062A>G (p.Ala3354=) c.5331A>G (p.Ala1777=) c.3081A>G (p.Ala1027=) c.4044A>G (p.Ala1348=) | |
| 1 | g.197088331T>G | CA422672189 | ASPM | n.3373A>C c.10086A>C (p.Ala3362=) c.10308A>C (p.Ala3436=) c.10062A>C (p.Ala3354=) c.5331A>C (p.Ala1777=) c.3081A>C (p.Ala1027=) c.4044A>C (p.Ala1348=) | dbSNP gnomAD v4 |
| 1 | g.197088331T= | CA1217923547 | ASPM | n.3373A= c.10086A= (p.Ala3362=) c.10308A= (p.Ala3436=) c.10062A= (p.Ala3354=) c.5331A= (p.Ala1777=) c.3081A= (p.Ala1027=) c.4044A= (p.Ala1348=) | |
| 1 | g.197088332G>A | CA343997991 | ASPM | n.3372C>T c.10085C>T (p.Ala3362Val) c.10307C>T (p.Ala3436Val) c.10061C>T (p.Ala3354Val) c.5330C>T (p.Ala1777Val) c.3080C>T (p.Ala1027Val) c.4043C>T (p.Ala1348Val) | |
| 1 | g.197088332G>C | CA343997996 | ASPM | n.3372C>G c.10085C>G (p.Ala3362Gly) c.10307C>G (p.Ala3436Gly) c.10061C>G (p.Ala3354Gly) c.5330C>G (p.Ala1777Gly) c.3080C>G (p.Ala1027Gly) c.4043C>G (p.Ala1348Gly) | |
| 1 | g.197088332G>T | CA343997999 | ASPM | n.3372C>A c.10085C>A (p.Ala3362Glu) c.10307C>A (p.Ala3436Glu) c.10061C>A (p.Ala3354Glu) c.5330C>A (p.Ala1777Glu) c.3080C>A (p.Ala1027Glu) c.4043C>A (p.Ala1348Glu) | |
| 1 | g.197088332_197088344delinsGCAACTTTATTAC | CA1217923549 | ASPM | n.3360_3372delinsGTAATAAAGTTGC c.10073_10085delinsGTAATAAAGTTGC (p.Gly3358=) c.10295_10307delinsGTAATAAAGTTGC (p.Gly3432=) c.10049_10061delinsGTAATAAAGTTGC (p.Gly3350=) c.5318_5330delinsGTAATAAAGTTGC (p.Gly1773=) c.3068_3080delinsGTAATAAAGTTGC (p.Gly1023=) c.4031_4043delinsGTAATAAAGTTGC (p.Gly1344=) | |
| 1 | g.197088333C>A | CA343998004 | ASPM | n.3371G>T c.10084G>T (p.Ala3362Ser) c.10306G>T (p.Ala3436Ser) c.10060G>T (p.Ala3354Ser) c.5329G>T (p.Ala1777Ser) c.3079G>T (p.Ala1027Ser) c.4042G>T (p.Ala1348Ser) | |
| 1 | g.197088333C>G | CA343998008 | ASPM | n.3371G>C c.10084G>C (p.Ala3362Pro) c.10306G>C (p.Ala3436Pro) c.10060G>C (p.Ala3354Pro) c.5329G>C (p.Ala1777Pro) c.3079G>C (p.Ala1027Pro) c.4042G>C (p.Ala1348Pro) | |
| 1 | g.197088333C>T | CA343998005 | ASPM | n.3371G>A c.10084G>A (p.Ala3362Thr) c.10306G>A (p.Ala3436Thr) c.10060G>A (p.Ala3354Thr) c.5329G>A (p.Ala1777Thr) c.3079G>A (p.Ala1027Thr) c.4042G>A (p.Ala1348Thr) | gnomAD v4 |
| 1 | g.197088335_197088346del | CA528535061 | ASPM | n.3360_3371del c.10073_10084del (p.Gly3358_Val3361del) c.10295_10306del (p.Gly3432_Val3435del) c.10049_10060del (p.Gly3350_Val3353del) c.5318_5329del (p.Gly1773_Val1776del) c.3068_3079del (p.Gly1023_Val1026del) c.4031_4042del (p.Gly1344_Val1347del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.197088334A= | CA1217923551 | ASPM | n.3370T= c.10083T= (p.Val3361=) c.10305T= (p.Val3435=) c.10059T= (p.Val3353=) c.5328T= (p.Val1776=) c.3078T= (p.Val1026=) c.4041T= (p.Val1347=) | |
| 1 | g.197088334A>C | CA422672190 | ASPM | n.3370T>G c.10083T>G (p.Val3361=) c.10305T>G (p.Val3435=) c.10059T>G (p.Val3353=) c.5328T>G (p.Val1776=) c.3078T>G (p.Val1026=) c.4041T>G (p.Val1347=) | |
| 1 | g.197088334A>G | CA1308798 | ASPM | n.3370T>C c.10083T>C (p.Val3361=) c.10305T>C (p.Val3435=) c.10059T>C (p.Val3353=) c.5328T>C (p.Val1776=) c.3078T>C (p.Val1026=) c.4041T>C (p.Val1347=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197088334A>T | CA422672191 | ASPM | n.3370T>A c.10083T>A (p.Val3361=) c.10305T>A (p.Val3435=) c.10059T>A (p.Val3353=) c.5328T>A (p.Val1776=) c.3078T>A (p.Val1026=) c.4041T>A (p.Val1347=) | |
| 1 | g.197088335A>C | CA343998016 | ASPM | n.3369T>G c.10082T>G (p.Val3361Gly) c.10304T>G (p.Val3435Gly) c.10058T>G (p.Val3353Gly) c.5327T>G (p.Val1776Gly) c.3077T>G (p.Val1026Gly) c.4040T>G (p.Val1347Gly) | |
| 1 | g.197088335A>G | CA343998022 | ASPM | n.3369T>C c.10082T>C (p.Val3361Ala) c.10304T>C (p.Val3435Ala) c.10058T>C (p.Val3353Ala) c.5327T>C (p.Val1776Ala) c.3077T>C (p.Val1026Ala) c.4040T>C (p.Val1347Ala) | |
| 1 | g.197088335A>T | CA343998032 | ASPM | n.3369T>A c.10082T>A (p.Val3361Asp) c.10304T>A (p.Val3435Asp) c.10058T>A (p.Val3353Asp) c.5327T>A (p.Val1776Asp) c.3077T>A (p.Val1026Asp) c.4040T>A (p.Val1347Asp) | |
| 1 | g.197088336C>A | CA343998036 | ASPM | n.3368G>T c.10081G>T (p.Val3361Phe) c.10303G>T (p.Val3435Phe) c.10057G>T (p.Val3353Phe) c.5326G>T (p.Val1776Phe) c.3076G>T (p.Val1026Phe) c.4039G>T (p.Val1347Phe) | |
| 1 | g.197088336C>G | CA343998039 | ASPM | n.3368G>C c.10081G>C (p.Val3361Leu) c.10303G>C (p.Val3435Leu) c.10057G>C (p.Val3353Leu) c.5326G>C (p.Val1776Leu) c.3076G>C (p.Val1026Leu) c.4039G>C (p.Val1347Leu) | |
| 1 | g.197088336C>T | CA343998047 | ASPM | n.3368G>A c.10081G>A (p.Val3361Ile) c.10303G>A (p.Val3435Ile) c.10057G>A (p.Val3353Ile) c.5326G>A (p.Val1776Ile) c.3076G>A (p.Val1026Ile) c.4039G>A (p.Val1347Ile) | |
| 1 | g.197088337T>A | CA343998057 | ASPM | n.3367A>T c.10080A>T (p.Lys3360Asn) c.10302A>T (p.Lys3434Asn) c.10056A>T (p.Lys3352Asn) c.5325A>T (p.Lys1775Asn) c.3075A>T (p.Lys1025Asn) c.4038A>T (p.Lys1346Asn) | |
| 1 | g.197088337T>C | CA422672192 | ASPM | n.3367A>G c.10080A>G (p.Lys3360=) c.10302A>G (p.Lys3434=) c.10056A>G (p.Lys3352=) c.5325A>G (p.Lys1775=) c.3075A>G (p.Lys1025=) c.4038A>G (p.Lys1346=) | |
| 1 | g.197088337T>G | CA343998059 | ASPM | n.3367A>C c.10080A>C (p.Lys3360Asn) c.10302A>C (p.Lys3434Asn) c.10056A>C (p.Lys3352Asn) c.5325A>C (p.Lys1775Asn) c.3075A>C (p.Lys1025Asn) c.4038A>C (p.Lys1346Asn) | |
| 1 | g.197088339del | CA2573629508 | ASPM | n.3367del c.10080del (p.Val3361LeufsTer20) c.10302del (p.Val3435LeufsTer20) c.10056del (p.Val3353LeufsTer20) c.5325del (p.Val1776LeufsTer20) c.3075del (p.Val1026LeufsTer20) c.4038del (p.Val1347LeufsTer20) | |
| 1 | g.197088338T>A | CA343998063 | ASPM | n.3366A>T c.10079A>T (p.Lys3360Ile) c.10301A>T (p.Lys3434Ile) c.10055A>T (p.Lys3352Ile) c.5324A>T (p.Lys1775Ile) c.3074A>T (p.Lys1025Ile) c.4037A>T (p.Lys1346Ile) | gnomAD v4 COSMIC |
| 1 | g.197088338T>C | CA343998066 | ASPM | n.3366A>G c.10079A>G (p.Lys3360Arg) c.10301A>G (p.Lys3434Arg) c.10055A>G (p.Lys3352Arg) c.5324A>G (p.Lys1775Arg) c.3074A>G (p.Lys1025Arg) c.4037A>G (p.Lys1346Arg) | |
| 1 | g.197088338T>G | CA343998071 | ASPM | n.3366A>C c.10079A>C (p.Lys3360Thr) c.10301A>C (p.Lys3434Thr) c.10055A>C (p.Lys3352Thr) c.5324A>C (p.Lys1775Thr) c.3074A>C (p.Lys1025Thr) c.4037A>C (p.Lys1346Thr) | |
| 1 | g.197088339T>A | CA343998074 | ASPM | n.3365A>T c.10078A>T (p.Lys3360Ter) c.10300A>T (p.Lys3434Ter) c.10054A>T (p.Lys3352Ter) c.5323A>T (p.Lys1775Ter) c.3073A>T (p.Lys1025Ter) c.4036A>T (p.Lys1346Ter) | gnomAD v4 |
| 1 | g.197088339T>C | CA343998080 | ASPM | n.3365A>G c.10078A>G (p.Lys3360Glu) c.10300A>G (p.Lys3434Glu) c.10054A>G (p.Lys3352Glu) c.5323A>G (p.Lys1775Glu) c.3073A>G (p.Lys1025Glu) c.4036A>G (p.Lys1346Glu) | |
| 1 | g.197088339T>G | CA343998077 | ASPM | n.3365A>C c.10078A>C (p.Lys3360Gln) c.10300A>C (p.Lys3434Gln) c.10054A>C (p.Lys3352Gln) c.5323A>C (p.Lys1775Gln) c.3073A>C (p.Lys1025Gln) c.4036A>C (p.Lys1346Gln) | |
| 1 | g.197088340A>C | CA343998085 | ASPM | n.3364T>G c.10077T>G (p.Asn3359Lys) c.10299T>G (p.Asn3433Lys) c.10053T>G (p.Asn3351Lys) c.5322T>G (p.Asn1774Lys) c.3072T>G (p.Asn1024Lys) c.4035T>G (p.Asn1345Lys) | |
| 1 | g.197088340A>G | CA422672193 | ASPM | n.3364T>C c.10077T>C (p.Asn3359=) c.10299T>C (p.Asn3433=) c.10053T>C (p.Asn3351=) c.5322T>C (p.Asn1774=) c.3072T>C (p.Asn1024=) c.4035T>C (p.Asn1345=) | |
| 1 | g.197088340A>T | CA343998088 | ASPM | n.3364T>A c.10077T>A (p.Asn3359Lys) c.10299T>A (p.Asn3433Lys) c.10053T>A (p.Asn3351Lys) c.5322T>A (p.Asn1774Lys) c.3072T>A (p.Asn1024Lys) c.4035T>A (p.Asn1345Lys) | |
| 1 | g.197088341T>A | CA343998095 | ASPM | n.3363A>T c.10076A>T (p.Asn3359Ile) c.10298A>T (p.Asn3433Ile) c.10052A>T (p.Asn3351Ile) c.5321A>T (p.Asn1774Ile) c.3071A>T (p.Asn1024Ile) c.4034A>T (p.Asn1345Ile) | |
| 1 | g.197088341T>C | CA343998103 | ASPM | n.3363A>G c.10076A>G (p.Asn3359Ser) c.10298A>G (p.Asn3433Ser) c.10052A>G (p.Asn3351Ser) c.5321A>G (p.Asn1774Ser) c.3071A>G (p.Asn1024Ser) c.4034A>G (p.Asn1345Ser) | |
| 1 | g.197088341T>G | CA343998099 | ASPM | n.3363A>C c.10076A>C (p.Asn3359Thr) c.10298A>C (p.Asn3433Thr) c.10052A>C (p.Asn3351Thr) c.5321A>C (p.Asn1774Thr) c.3071A>C (p.Asn1024Thr) c.4034A>C (p.Asn1345Thr) |