Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.197090803A= | CA1217925596 | ASPM | n.2923+47T= c.9636+47T= (n.9636+47T=) c.9858+47T= (n.9858+47T=) c.9612+47T= (n.9612+47T=) c.4881+47T= (n.4881+47T=) c.2631+47T= (n.2631+47T=) c.3594+47T= (n.3594+47T=) | |
1 | g.197090803A>C | CA1217925597 | ASPM | n.2923+47T>G c.9636+47T>G (n.9636+47T>G) c.9858+47T>G (n.9858+47T>G) c.9612+47T>G (n.9612+47T>G) c.4881+47T>G (n.4881+47T>G) c.2631+47T>G (n.2631+47T>G) c.3594+47T>G (n.3594+47T>G) | dbSNP |
1 | g.197090803_197090804insTC | CA2557910379 | ASPM | n.2923+46_2923+47insGA c.9636+46_9636+47insGA (n.9636+46_9636+47insGA) c.9858+46_9858+47insGA (n.9858+46_9858+47insGA) c.9612+46_9612+47insGA (n.9612+46_9612+47insGA) c.4881+46_4881+47insGA (n.4881+46_4881+47insGA) c.2631+46_2631+47insGA (n.2631+46_2631+47insGA) c.3594+46_3594+47insGA (n.3594+46_3594+47insGA) | |
1 | g.197090804A= | CA1217925600 | ASPM | n.2923+46T= c.9636+46T= (n.9636+46T=) c.9858+46T= (n.9858+46T=) c.9612+46T= (n.9612+46T=) c.4881+46T= (n.4881+46T=) c.2631+46T= (n.2631+46T=) c.3594+46T= (n.3594+46T=) | |
1 | g.197090804A>T | CA1308906 | ASPM | n.2923+46T>A c.9636+46T>A (n.9636+46T>A) c.9858+46T>A (n.9858+46T>A) c.9612+46T>A (n.9612+46T>A) c.4881+46T>A (n.4881+46T>A) c.2631+46T>A (n.2631+46T>A) c.3594+46T>A (n.3594+46T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090804_197090805delinsAT | CA1217925599 | ASPM | n.2923+45_2923+46delinsAT c.9636+45_9636+46delinsAT (n.9636+45_9636+46delinsAT) c.9858+45_9858+46delinsAT (n.9858+45_9858+46delinsAT) c.9612+45_9612+46delinsAT (n.9612+45_9612+46delinsAT) c.4881+45_4881+46delinsAT (n.4881+45_4881+46delinsAT) c.2631+45_2631+46delinsAT (n.2631+45_2631+46delinsAT) c.3594+45_3594+46delinsAT (n.3594+45_3594+46delinsAT) | |
1 | g.197090806del | CA1308907 | ASPM | n.2923+45del c.9636+45del (n.9636+45del) c.9858+45del (n.9858+45del) c.9612+45del (n.9612+45del) c.4881+45del (n.4881+45del) c.2631+45del (n.2631+45del) c.3594+45del (n.3594+45del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090806T>G | CA729742692 | ASPM | n.2923+44A>C c.9636+44A>C (n.9636+44A>C) c.9858+44A>C (n.9858+44A>C) c.9612+44A>C (n.9612+44A>C) c.4881+44A>C (n.4881+44A>C) c.2631+44A>C (n.2631+44A>C) c.3594+44A>C (n.3594+44A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090806T= | CA1217925603 | ASPM | n.2923+44A= c.9636+44A= (n.9636+44A=) c.9858+44A= (n.9858+44A=) c.9612+44A= (n.9612+44A=) c.4881+44A= (n.4881+44A=) c.2631+44A= (n.2631+44A=) c.3594+44A= (n.3594+44A=) | |
1 | g.197090807G>A | CA1308908 | ASPM | n.2923+43C>T c.9636+43C>T (n.9636+43C>T) c.9858+43C>T (n.9858+43C>T) c.9612+43C>T (n.9612+43C>T) c.4881+43C>T (n.4881+43C>T) c.2631+43C>T (n.2631+43C>T) c.3594+43C>T (n.3594+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090807G>C | CA2649660842 | ASPM | n.2923+43C>G c.9636+43C>G (n.9636+43C>G) c.9858+43C>G (n.9858+43C>G) c.9612+43C>G (n.9612+43C>G) c.4881+43C>G (n.4881+43C>G) c.2631+43C>G (n.2631+43C>G) c.3594+43C>G (n.3594+43C>G) | gnomAD v4 |
1 | g.197090807G= | CA1217925605 | ASPM | n.2923+43C= c.9636+43C= (n.9636+43C=) c.9858+43C= (n.9858+43C=) c.9612+43C= (n.9612+43C=) c.4881+43C= (n.4881+43C=) c.2631+43C= (n.2631+43C=) c.3594+43C= (n.3594+43C=) | |
1 | g.197090807G>T | CA2573973985 | ASPM | n.2923+43C>A c.9636+43C>A (n.9636+43C>A) c.9858+43C>A (n.9858+43C>A) c.9612+43C>A (n.9612+43C>A) c.4881+43C>A (n.4881+43C>A) c.2631+43C>A (n.2631+43C>A) c.3594+43C>A (n.3594+43C>A) | gnomAD v4 |
1 | g.197090807_197090808del | CA2546421844 | ASPM | n.2923+42_2923+43del c.9636+42_9636+43del (n.9636+42_9636+43del) c.9858+42_9858+43del (n.9858+42_9858+43del) c.9612+42_9612+43del (n.9612+42_9612+43del) c.4881+42_4881+43del (n.4881+42_4881+43del) c.2631+42_2631+43del (n.2631+42_2631+43del) c.3594+42_3594+43del (n.3594+42_3594+43del) | |
1 | g.197090808C= | CA1217925607 | ASPM | n.2923+42G= c.9636+42G= (n.9636+42G=) c.9858+42G= (n.9858+42G=) c.9612+42G= (n.9612+42G=) c.4881+42G= (n.4881+42G=) c.2631+42G= (n.2631+42G=) c.3594+42G= (n.3594+42G=) | |
1 | g.197090808C>G | CA1308909 | ASPM | n.2923+42G>C c.9636+42G>C (n.9636+42G>C) c.9858+42G>C (n.9858+42G>C) c.9612+42G>C (n.9612+42G>C) c.4881+42G>C (n.4881+42G>C) c.2631+42G>C (n.2631+42G>C) c.3594+42G>C (n.3594+42G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090808C>T | CA2649660843 | ASPM | n.2923+42G>A c.9636+42G>A (n.9636+42G>A) c.9858+42G>A (n.9858+42G>A) c.9612+42G>A (n.9612+42G>A) c.4881+42G>A (n.4881+42G>A) c.2631+42G>A (n.2631+42G>A) c.3594+42G>A (n.3594+42G>A) | gnomAD v4 |
1 | g.197090809A>T | CA2747239587 | ASPM | n.2923+41T>A c.9636+41T>A (n.9636+41T>A) c.9858+41T>A (n.9858+41T>A) c.9612+41T>A (n.9612+41T>A) c.4881+41T>A (n.4881+41T>A) c.2631+41T>A (n.2631+41T>A) c.3594+41T>A (n.3594+41T>A) | |
1 | g.197090810A>G | CA2649660844 | ASPM | n.2923+40T>C c.9636+40T>C (n.9636+40T>C) c.9858+40T>C (n.9858+40T>C) c.9612+40T>C (n.9612+40T>C) c.4881+40T>C (n.4881+40T>C) c.2631+40T>C (n.2631+40T>C) c.3594+40T>C (n.3594+40T>C) | gnomAD v4 |
1 | g.197090811A= | CA1217925609 | ASPM | n.2923+39T= c.9636+39T= (n.9636+39T=) c.9858+39T= (n.9858+39T=) c.9612+39T= (n.9612+39T=) c.4881+39T= (n.4881+39T=) c.2631+39T= (n.2631+39T=) c.3594+39T= (n.3594+39T=) | |
1 | g.197090811A>G | CA528279153 | ASPM | n.2923+39T>C c.9636+39T>C (n.9636+39T>C) c.9858+39T>C (n.9858+39T>C) c.9612+39T>C (n.9612+39T>C) c.4881+39T>C (n.4881+39T>C) c.2631+39T>C (n.2631+39T>C) c.3594+39T>C (n.3594+39T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090812C>A | CA528279154 | ASPM | n.2923+38G>T c.9636+38G>T (n.9636+38G>T) c.9858+38G>T (n.9858+38G>T) c.9612+38G>T (n.9612+38G>T) c.4881+38G>T (n.4881+38G>T) c.2631+38G>T (n.2631+38G>T) c.3594+38G>T (n.3594+38G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090812C= | CA1217925611 | ASPM | n.2923+38G= c.9636+38G= (n.9636+38G=) c.9858+38G= (n.9858+38G=) c.9612+38G= (n.9612+38G=) c.4881+38G= (n.4881+38G=) c.2631+38G= (n.2631+38G=) c.3594+38G= (n.3594+38G=) | |
1 | g.197090812_197090813del | CA2551520116 | ASPM | n.2923+37_2923+38del c.9636+37_9636+38del (n.9636+37_9636+38del) c.9858+37_9858+38del (n.9858+37_9858+38del) c.9612+37_9612+38del (n.9612+37_9612+38del) c.4881+37_4881+38del (n.4881+37_4881+38del) c.2631+37_2631+38del (n.2631+37_2631+38del) c.3594+37_3594+38del (n.3594+37_3594+38del) | |
1 | g.197090813T>C | CA2649660845 | ASPM | n.2923+37A>G c.9636+37A>G (n.9636+37A>G) c.9858+37A>G (n.9858+37A>G) c.9612+37A>G (n.9612+37A>G) c.4881+37A>G (n.4881+37A>G) c.2631+37A>G (n.2631+37A>G) c.3594+37A>G (n.3594+37A>G) | gnomAD v4 |
1 | g.197090814A= | CA1217925614 | ASPM | n.2923+36T= c.9636+36T= (n.9636+36T=) c.9858+36T= (n.9858+36T=) c.9612+36T= (n.9612+36T=) c.4881+36T= (n.4881+36T=) c.2631+36T= (n.2631+36T=) c.3594+36T= (n.3594+36T=) | |
1 | g.197090814A>C | CA729742707 | ASPM | n.2923+36T>G c.9636+36T>G (n.9636+36T>G) c.9858+36T>G (n.9858+36T>G) c.9612+36T>G (n.9612+36T>G) c.4881+36T>G (n.4881+36T>G) c.2631+36T>G (n.2631+36T>G) c.3594+36T>G (n.3594+36T>G) | dbSNP |
1 | g.197090814A>G | CA1217925616 | ASPM | n.2923+36T>C c.9636+36T>C (n.9636+36T>C) c.9858+36T>C (n.9858+36T>C) c.9612+36T>C (n.9612+36T>C) c.4881+36T>C (n.4881+36T>C) c.2631+36T>C (n.2631+36T>C) c.3594+36T>C (n.3594+36T>C) | dbSNP gnomAD v4 |
1 | g.197090815_197090816del | CA2649660846 | ASPM | n.2923+35_2923+36del c.9636+35_9636+36del (n.9636+35_9636+36del) c.9858+35_9858+36del (n.9858+35_9858+36del) c.9612+35_9612+36del (n.9612+35_9612+36del) c.4881+35_4881+36del (n.4881+35_4881+36del) c.2631+35_2631+36del (n.2631+35_2631+36del) c.3594+35_3594+36del (n.3594+35_3594+36del) | gnomAD v4 |
1 | g.197090815A= | CA1217925618 | ASPM | n.2923+35T= c.9636+35T= (n.9636+35T=) c.9858+35T= (n.9858+35T=) c.9612+35T= (n.9612+35T=) c.4881+35T= (n.4881+35T=) c.2631+35T= (n.2631+35T=) c.3594+35T= (n.3594+35T=) | |
1 | g.197090815A>C | CA1217925617 | ASPM | n.2923+35T>G c.9636+35T>G (n.9636+35T>G) c.9858+35T>G (n.9858+35T>G) c.9612+35T>G (n.9612+35T>G) c.4881+35T>G (n.4881+35T>G) c.2631+35T>G (n.2631+35T>G) c.3594+35T>G (n.3594+35T>G) | dbSNP |
1 | g.197090815A>G | CA2649660847 | ASPM | n.2923+35T>C c.9636+35T>C (n.9636+35T>C) c.9858+35T>C (n.9858+35T>C) c.9612+35T>C (n.9612+35T>C) c.4881+35T>C (n.4881+35T>C) c.2631+35T>C (n.2631+35T>C) c.3594+35T>C (n.3594+35T>C) | gnomAD v4 |
1 | g.197090816A>G | CA2573973990 | ASPM | n.2923+34T>C c.9636+34T>C (n.9636+34T>C) c.9858+34T>C (n.9858+34T>C) c.9612+34T>C (n.9612+34T>C) c.4881+34T>C (n.4881+34T>C) c.2631+34T>C (n.2631+34T>C) c.3594+34T>C (n.3594+34T>C) | |
1 | g.197090817G>C | CA729742709 | ASPM | n.2923+33C>G c.9636+33C>G (n.9636+33C>G) c.9858+33C>G (n.9858+33C>G) c.9612+33C>G (n.9612+33C>G) c.4881+33C>G (n.4881+33C>G) c.2631+33C>G (n.2631+33C>G) c.3594+33C>G (n.3594+33C>G) | dbSNP |
1 | g.197090817G= | CA1217925620 | ASPM | n.2923+33C= c.9636+33C= (n.9636+33C=) c.9858+33C= (n.9858+33C=) c.9612+33C= (n.9612+33C=) c.4881+33C= (n.4881+33C=) c.2631+33C= (n.2631+33C=) c.3594+33C= (n.3594+33C=) | |
1 | g.197090817G>T | CA2649660848 | ASPM | n.2923+33C>A c.9636+33C>A (n.9636+33C>A) c.9858+33C>A (n.9858+33C>A) c.9612+33C>A (n.9612+33C>A) c.4881+33C>A (n.4881+33C>A) c.2631+33C>A (n.2631+33C>A) c.3594+33C>A (n.3594+33C>A) | gnomAD v4 |
1 | g.197090820T>A | CA729742712 | ASPM | n.2923+30A>T c.9636+30A>T (n.9636+30A>T) c.9858+30A>T (n.9858+30A>T) c.9612+30A>T (n.9612+30A>T) c.4881+30A>T (n.4881+30A>T) c.2631+30A>T (n.2631+30A>T) c.3594+30A>T (n.3594+30A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090820T= | CA1217925621 | ASPM | n.2923+30A= c.9636+30A= (n.9636+30A=) c.9858+30A= (n.9858+30A=) c.9612+30A= (n.9612+30A=) c.4881+30A= (n.4881+30A=) c.2631+30A= (n.2631+30A=) c.3594+30A= (n.3594+30A=) | |
1 | g.197090821T>C | CA1010898477 | ASPM | n.2923+29A>G c.9636+29A>G (n.9636+29A>G) c.9858+29A>G (n.9858+29A>G) c.9612+29A>G (n.9612+29A>G) c.4881+29A>G (n.4881+29A>G) c.2631+29A>G (n.2631+29A>G) c.3594+29A>G (n.3594+29A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090821T= | CA1217925622 | ASPM | n.2923+29A= c.9636+29A= (n.9636+29A=) c.9858+29A= (n.9858+29A=) c.9612+29A= (n.9612+29A=) c.4881+29A= (n.4881+29A=) c.2631+29A= (n.2631+29A=) c.3594+29A= (n.3594+29A=) | |
1 | g.197090822G>C | CA1217925623 | ASPM | n.2923+28C>G c.9636+28C>G (n.9636+28C>G) c.9858+28C>G (n.9858+28C>G) c.9612+28C>G (n.9612+28C>G) c.4881+28C>G (n.4881+28C>G) c.2631+28C>G (n.2631+28C>G) c.3594+28C>G (n.3594+28C>G) | dbSNP gnomAD v4 |
1 | g.197090822G= | CA1217925624 | ASPM | n.2923+28C= c.9636+28C= (n.9636+28C=) c.9858+28C= (n.9858+28C=) c.9612+28C= (n.9612+28C=) c.4881+28C= (n.4881+28C=) c.2631+28C= (n.2631+28C=) c.3594+28C= (n.3594+28C=) | |
1 | g.197090822G>T | CA2649660849 | ASPM | n.2923+28C>A c.9636+28C>A (n.9636+28C>A) c.9858+28C>A (n.9858+28C>A) c.9612+28C>A (n.9612+28C>A) c.4881+28C>A (n.4881+28C>A) c.2631+28C>A (n.2631+28C>A) c.3594+28C>A (n.3594+28C>A) | gnomAD v4 |
1 | g.197090828_197090833dup | CA1308910 | ASPM | n.2923+22_2923+27dup c.9636+22_9636+27dup (n.9636+22_9636+27dup) c.9858+22_9858+27dup (n.9858+22_9858+27dup) c.9612+22_9612+27dup (n.9612+22_9612+27dup) c.4881+22_4881+27dup (n.4881+22_4881+27dup) c.2631+22_2631+27dup (n.2631+22_2631+27dup) c.3594+22_3594+27dup (n.3594+22_3594+27dup) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090825C>G | CA2606710849 | ASPM | n.2923+25G>C c.9636+25G>C (n.9636+25G>C) c.9858+25G>C (n.9858+25G>C) c.9612+25G>C (n.9612+25G>C) c.4881+25G>C (n.4881+25G>C) c.2631+25G>C (n.2631+25G>C) c.3594+25G>C (n.3594+25G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090825C>T | CA2649660850 | ASPM | n.2923+25G>A c.9636+25G>A (n.9636+25G>A) c.9858+25G>A (n.9858+25G>A) c.9612+25G>A (n.9612+25G>A) c.4881+25G>A (n.4881+25G>A) c.2631+25G>A (n.2631+25G>A) c.3594+25G>A (n.3594+25G>A) | gnomAD v4 |
1 | g.197090827A= | CA1149107474 | ASPM | n.2923+23T= c.9636+23T= (n.9636+23T=) c.9858+23T= (n.9858+23T=) c.9612+23T= (n.9612+23T=) c.4881+23T= (n.4881+23T=) c.2631+23T= (n.2631+23T=) c.3594+23T= (n.3594+23T=) | |
1 | g.197090827A>G | CA1308911 | ASPM | n.2923+23T>C c.9636+23T>C (n.9636+23T>C) c.9858+23T>C (n.9858+23T>C) c.9612+23T>C (n.9612+23T>C) c.4881+23T>C (n.4881+23T>C) c.2631+23T>C (n.2631+23T>C) c.3594+23T>C (n.3594+23T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090830del | CA2649660851 | ASPM | n.2923+23del c.9636+23del (n.9636+23del) c.9858+23del (n.9858+23del) c.9612+23del (n.9612+23del) c.4881+23del (n.4881+23del) c.2631+23del (n.2631+23del) c.3594+23del (n.3594+23del) | gnomAD v4 |
1 | g.197090828A= | CA1217925627 | ASPM | n.2923+22T= c.9636+22T= (n.9636+22T=) c.9858+22T= (n.9858+22T=) c.9612+22T= (n.9612+22T=) c.4881+22T= (n.4881+22T=) c.2631+22T= (n.2631+22T=) c.3594+22T= (n.3594+22T=) | |
1 | g.197090828A>G | CA2649660852 | ASPM | n.2923+22T>C c.9636+22T>C (n.9636+22T>C) c.9858+22T>C (n.9858+22T>C) c.9612+22T>C (n.9612+22T>C) c.4881+22T>C (n.4881+22T>C) c.2631+22T>C (n.2631+22T>C) c.3594+22T>C (n.3594+22T>C) | gnomAD v4 |
1 | g.197090828A>T | CA35862162 | ASPM | n.2923+22T>A c.9636+22T>A (n.9636+22T>A) c.9858+22T>A (n.9858+22T>A) c.9612+22T>A (n.9612+22T>A) c.4881+22T>A (n.4881+22T>A) c.2631+22T>A (n.2631+22T>A) c.3594+22T>A (n.3594+22T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090829A= | CA1217925628 | ASPM | n.2923+21T= c.9636+21T= (n.9636+21T=) c.9858+21T= (n.9858+21T=) c.9612+21T= (n.9612+21T=) c.4881+21T= (n.4881+21T=) c.2631+21T= (n.2631+21T=) c.3594+21T= (n.3594+21T=) | |
1 | g.197090829A>T | CA528535100 | ASPM | n.2923+21T>A c.9636+21T>A (n.9636+21T>A) c.9858+21T>A (n.9858+21T>A) c.9612+21T>A (n.9612+21T>A) c.4881+21T>A (n.4881+21T>A) c.2631+21T>A (n.2631+21T>A) c.3594+21T>A (n.3594+21T>A) | dbSNP gnomAD v2 |
1 | g.197090830A>T | CA2573974000 | ASPM | n.2923+20T>A c.9636+20T>A (n.9636+20T>A) c.9858+20T>A (n.9858+20T>A) c.9612+20T>A (n.9612+20T>A) c.4881+20T>A (n.4881+20T>A) c.2631+20T>A (n.2631+20T>A) c.3594+20T>A (n.3594+20T>A) | |
1 | g.197090831C>T | CA2580061802 | ASPM | n.2923+19G>A c.9636+19G>A (n.9636+19G>A) c.9858+19G>A (n.9858+19G>A) c.9612+19G>A (n.9612+19G>A) c.4881+19G>A (n.4881+19G>A) c.2631+19G>A (n.2631+19G>A) c.3594+19G>A (n.3594+19G>A) | ClinVar gnomAD v4 |
1 | g.197090834T>C | CA35862163 | ASPM | n.2923+16A>G c.9636+16A>G (n.9636+16A>G) c.9858+16A>G (n.9858+16A>G) c.9612+16A>G (n.9612+16A>G) c.4881+16A>G (n.4881+16A>G) c.2631+16A>G (n.2631+16A>G) c.3594+16A>G (n.3594+16A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090834T= | CA1217925630 | ASPM | n.2923+16A= c.9636+16A= (n.9636+16A=) c.9858+16A= (n.9858+16A=) c.9612+16A= (n.9612+16A=) c.4881+16A= (n.4881+16A=) c.2631+16A= (n.2631+16A=) c.3594+16A= (n.3594+16A=) | |
1 | g.197090835A= | CA1217925633 | ASPM | n.2923+15T= c.9636+15T= (n.9636+15T=) c.9858+15T= (n.9858+15T=) c.9612+15T= (n.9612+15T=) c.4881+15T= (n.4881+15T=) c.2631+15T= (n.2631+15T=) c.3594+15T= (n.3594+15T=) | |
1 | g.197090835A>G | CA645856952 | ASPM | n.2923+15T>C c.9636+15T>C (n.9636+15T>C) c.9858+15T>C (n.9858+15T>C) c.9612+15T>C (n.9612+15T>C) c.4881+15T>C (n.4881+15T>C) c.2631+15T>C (n.2631+15T>C) c.3594+15T>C (n.3594+15T>C) | dbSNP gnomAD v4 COSMIC |
1 | g.197090835_197090842delinsACAAGTTT | CA1217925632 | ASPM | n.2923+8_2923+15delinsAAACTTGT c.9636+8_9636+15delinsAAACTTGT (n.9636+8_9636+15delinsAAACTTGT) c.9858+8_9858+15delinsAAACTTGT (n.9858+8_9858+15delinsAAACTTGT) c.9612+8_9612+15delinsAAACTTGT (n.9612+8_9612+15delinsAAACTTGT) c.4881+8_4881+15delinsAAACTTGT (n.4881+8_4881+15delinsAAACTTGT) c.2631+8_2631+15delinsAAACTTGT (n.2631+8_2631+15delinsAAACTTGT) c.3594+8_3594+15delinsAAACTTGT (n.3594+8_3594+15delinsAAACTTGT) | |
1 | g.197090836C>A | CA2649660853 | ASPM | n.2923+14G>T c.9636+14G>T (n.9636+14G>T) c.9858+14G>T (n.9858+14G>T) c.9612+14G>T (n.9612+14G>T) c.4881+14G>T (n.4881+14G>T) c.2631+14G>T (n.2631+14G>T) c.3594+14G>T (n.3594+14G>T) | gnomAD v4 |
1 | g.197090836C= | CA1217925635 | ASPM | n.2923+14G= c.9636+14G= (n.9636+14G=) c.9858+14G= (n.9858+14G=) c.9612+14G= (n.9612+14G=) c.4881+14G= (n.4881+14G=) c.2631+14G= (n.2631+14G=) c.3594+14G= (n.3594+14G=) | |
1 | g.197090836C>T | CA528535102 | ASPM | n.2923+14G>A c.9636+14G>A (n.9636+14G>A) c.9858+14G>A (n.9858+14G>A) c.9612+14G>A (n.9612+14G>A) c.4881+14G>A (n.4881+14G>A) c.2631+14G>A (n.2631+14G>A) c.3594+14G>A (n.3594+14G>A) | gnomAD v2 gnomAD v4 |
1 | g.197090839_197090845del | CA528535101 | ASPM | n.2923+8_2923+14del c.9636+8_9636+14del (n.9636+8_9636+14del) c.9858+8_9858+14del (n.9858+8_9858+14del) c.9612+8_9612+14del (n.9612+8_9612+14del) c.4881+8_4881+14del (n.4881+8_4881+14del) c.2631+8_2631+14del (n.2631+8_2631+14del) c.3594+8_3594+14del (n.3594+8_3594+14del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090837_197090838dup | CA1308912 | ASPM | n.2923+12_2923+13dup c.9636+12_9636+13dup (n.9636+12_9636+13dup) c.9858+12_9858+13dup (n.9858+12_9858+13dup) c.9612+12_9612+13dup (n.9612+12_9612+13dup) c.4881+12_4881+13dup (n.4881+12_4881+13dup) c.2631+12_2631+13dup (n.2631+12_2631+13dup) c.3594+12_3594+13dup (n.3594+12_3594+13dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090838A>T | CA2649660854 | ASPM | n.2923+12T>A c.9636+12T>A (n.9636+12T>A) c.9858+12T>A (n.9858+12T>A) c.9612+12T>A (n.9612+12T>A) c.4881+12T>A (n.4881+12T>A) c.2631+12T>A (n.2631+12T>A) c.3594+12T>A (n.3594+12T>A) | gnomAD v4 |
1 | g.197090839G>C | CA2573974010 | ASPM | n.2923+11C>G c.9636+11C>G (n.9636+11C>G) c.9858+11C>G (n.9858+11C>G) c.9612+11C>G (n.9612+11C>G) c.4881+11C>G (n.4881+11C>G) c.2631+11C>G (n.2631+11C>G) c.3594+11C>G (n.3594+11C>G) | |
1 | g.197090839G>T | CA2649660855 | ASPM | n.2923+11C>A c.9636+11C>A (n.9636+11C>A) c.9858+11C>A (n.9858+11C>A) c.9612+11C>A (n.9612+11C>A) c.4881+11C>A (n.4881+11C>A) c.2631+11C>A (n.2631+11C>A) c.3594+11C>A (n.3594+11C>A) | gnomAD v4 |
1 | g.197090841T>G | CA528535103 | ASPM | n.2923+9A>C c.9636+9A>C (n.9636+9A>C) c.9858+9A>C (n.9858+9A>C) c.9612+9A>C (n.9612+9A>C) c.4881+9A>C (n.4881+9A>C) c.2631+9A>C (n.2631+9A>C) c.3594+9A>C (n.3594+9A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090841T= | CA1217925639 | ASPM | n.2923+9A= c.9636+9A= (n.9636+9A=) c.9858+9A= (n.9858+9A=) c.9612+9A= (n.9612+9A=) c.4881+9A= (n.4881+9A=) c.2631+9A= (n.2631+9A=) c.3594+9A= (n.3594+9A=) | |
1 | g.197090843C= | CA1217925641 | ASPM | n.2923+7G= c.9636+7G= (n.9636+7G=) c.9858+7G= (n.9858+7G=) c.9612+7G= (n.9612+7G=) c.4881+7G= (n.4881+7G=) c.2631+7G= (n.2631+7G=) c.3594+7G= (n.3594+7G=) | |
1 | g.197090843C>T | CA1217925642 | ASPM | n.2923+7G>A c.9636+7G>A (n.9636+7G>A) c.9858+7G>A (n.9858+7G>A) c.9612+7G>A (n.9612+7G>A) c.4881+7G>A (n.4881+7G>A) c.2631+7G>A (n.2631+7G>A) c.3594+7G>A (n.3594+7G>A) | dbSNP gnomAD v4 |
1 | g.197090846T>C | CA645369170 | ASPM | n.2923+4A>G c.9636+4A>G (n.9636+4A>G) c.9858+4A>G (n.9858+4A>G) c.9612+4A>G (n.9612+4A>G) c.4881+4A>G (n.4881+4A>G) c.2631+4A>G (n.2631+4A>G) c.3594+4A>G (n.3594+4A>G) | ClinVar dbSNP gnomAD v4 |
1 | g.197090846T= | CA1217925646 | ASPM | n.2923+4A= c.9636+4A= (n.9636+4A=) c.9858+4A= (n.9858+4A=) c.9612+4A= (n.9612+4A=) c.4881+4A= (n.4881+4A=) c.2631+4A= (n.2631+4A=) c.3594+4A= (n.3594+4A=) | |
1 | g.197090847T>C | CA2649660856 | ASPM | n.2923+3A>G c.9636+3A>G (n.9636+3A>G) c.9858+3A>G (n.9858+3A>G) c.9612+3A>G (n.9612+3A>G) c.4881+3A>G (n.4881+3A>G) c.2631+3A>G (n.2631+3A>G) c.3594+3A>G (n.3594+3A>G) | gnomAD v4 |
1 | g.197090847T>G | CA1010898485 | ASPM | n.2923+3A>C c.9636+3A>C (n.9636+3A>C) c.9858+3A>C (n.9858+3A>C) c.9612+3A>C (n.9612+3A>C) c.4881+3A>C (n.4881+3A>C) c.2631+3A>C (n.2631+3A>C) c.3594+3A>C (n.3594+3A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090847T= | CA1217925648 | ASPM | n.2923+3A= c.9636+3A= (n.9636+3A=) c.9858+3A= (n.9858+3A=) c.9612+3A= (n.9612+3A=) c.4881+3A= (n.4881+3A=) c.2631+3A= (n.2631+3A=) c.3594+3A= (n.3594+3A=) | |
1 | g.197090848A>C | CA344002224 | ASPM | n.2923+2T>G c.9636+2T>G (n.9636+2T>G) c.9858+2T>G (n.9858+2T>G) c.9612+2T>G (n.9612+2T>G) c.4881+2T>G (n.4881+2T>G) c.2631+2T>G (n.2631+2T>G) c.3594+2T>G (n.3594+2T>G) | |
1 | g.197090848A>G | CA344002227 | ASPM | n.2923+2T>C c.9636+2T>C (n.9636+2T>C) c.9858+2T>C (n.9858+2T>C) c.9612+2T>C (n.9612+2T>C) c.4881+2T>C (n.4881+2T>C) c.2631+2T>C (n.2631+2T>C) c.3594+2T>C (n.3594+2T>C) | |
1 | g.197090848A>T | CA344002229 | ASPM | n.2923+2T>A c.9636+2T>A (n.9636+2T>A) c.9858+2T>A (n.9858+2T>A) c.9612+2T>A (n.9612+2T>A) c.4881+2T>A (n.4881+2T>A) c.2631+2T>A (n.2631+2T>A) c.3594+2T>A (n.3594+2T>A) | |
1 | g.197090849C>A | CA344002232 | ASPM | n.2923+1G>T c.9636+1G>T (n.9636+1G>T) c.9858+1G>T (n.9858+1G>T) c.9612+1G>T (n.9612+1G>T) c.4881+1G>T (n.4881+1G>T) c.2631+1G>T (n.2631+1G>T) c.3594+1G>T (n.3594+1G>T) | gnomAD v4 |
1 | g.197090849C>G | CA344002236 | ASPM | n.2923+1G>C c.9636+1G>C (n.9636+1G>C) c.9858+1G>C (n.9858+1G>C) c.9612+1G>C (n.9612+1G>C) c.4881+1G>C (n.4881+1G>C) c.2631+1G>C (n.2631+1G>C) c.3594+1G>C (n.3594+1G>C) | |
1 | g.197090849C>T | CA344002234 | ASPM | n.2923+1G>A c.9636+1G>A (n.9636+1G>A) c.9858+1G>A (n.9858+1G>A) c.9612+1G>A (n.9612+1G>A) c.4881+1G>A (n.4881+1G>A) c.2631+1G>A (n.2631+1G>A) c.3594+1G>A (n.3594+1G>A) | gnomAD v4 |
1 | g.197090850C>A | CA344002238 | ASPM | n.2923G>T c.9636G>T (p.Gln3212His) c.9858G>T (p.Gln3286His) c.9612G>T (p.Gln3204His) c.4881G>T (p.Gln1627His) c.2631G>T (p.Gln877His) c.3594G>T (p.Gln1198His) | gnomAD v4 |
1 | g.197090850C= | CA1144106692 | ASPM | n.2923G= c.9636G= (p.Gln3212=) c.9858G= (p.Gln3286=) c.9612G= (p.Gln3204=) c.4881G= (p.Gln1627=) c.2631G= (p.Gln877=) c.3594G= (p.Gln1198=) | |
1 | g.197090850C>G | CA344002239 | ASPM | n.2923G>C c.9636G>C (p.Gln3212His) c.9858G>C (p.Gln3286His) c.9612G>C (p.Gln3204His) c.4881G>C (p.Gln1627His) c.2631G>C (p.Gln877His) c.3594G>C (p.Gln1198His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090850C>T | CA35862165 | ASPM | n.2923G>A c.9636G>A (p.Gln3212=) c.9858G>A (p.Gln3286=) c.9612G>A (p.Gln3204=) c.4881G>A (p.Gln1627=) c.2631G>A (p.Gln877=) c.3594G>A (p.Gln1198=) | dbSNP gnomAD v4 |
1 | g.197090851T>A | CA344002242 | ASPM | n.2922A>T c.9635A>T (p.Gln3212Leu) c.9857A>T (p.Gln3286Leu) c.9611A>T (p.Gln3204Leu) c.4880A>T (p.Gln1627Leu) c.2630A>T (p.Gln877Leu) c.3593A>T (p.Gln1198Leu) | |
1 | g.197090851T>C | CA344002245 | ASPM | n.2922A>G c.9635A>G (p.Gln3212Arg) c.9857A>G (p.Gln3286Arg) c.9611A>G (p.Gln3204Arg) c.4880A>G (p.Gln1627Arg) c.2630A>G (p.Gln877Arg) c.3593A>G (p.Gln1198Arg) | |
1 | g.197090851T>G | CA344002246 | ASPM | n.2922A>C c.9635A>C (p.Gln3212Pro) c.9857A>C (p.Gln3286Pro) c.9611A>C (p.Gln3204Pro) c.4880A>C (p.Gln1627Pro) c.2630A>C (p.Gln877Pro) c.3593A>C (p.Gln1198Pro) | |
1 | g.197090852G>A | CA344002250 | ASPM | n.2921C>T c.9634C>T (p.Gln3212Ter) c.9856C>T (p.Gln3286Ter) c.9610C>T (p.Gln3204Ter) c.4879C>T (p.Gln1627Ter) c.2629C>T (p.Gln877Ter) c.3592C>T (p.Gln1198Ter) | |
1 | g.197090852G>C | CA344002252 | ASPM | n.2921C>G c.9634C>G (p.Gln3212Glu) c.9856C>G (p.Gln3286Glu) c.9610C>G (p.Gln3204Glu) c.4879C>G (p.Gln1627Glu) c.2629C>G (p.Gln877Glu) c.3592C>G (p.Gln1198Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090852G= | CA1217925656 | ASPM | n.2921C= c.9634C= (p.Gln3212=) c.9856C= (p.Gln3286=) c.9610C= (p.Gln3204=) c.4879C= (p.Gln1627=) c.2629C= (p.Gln877=) c.3592C= (p.Gln1198=) | |
1 | g.197090852G>T | CA344002255 | ASPM | n.2921C>A c.9634C>A (p.Gln3212Lys) c.9856C>A (p.Gln3286Lys) c.9610C>A (p.Gln3204Lys) c.4879C>A (p.Gln1627Lys) c.2629C>A (p.Gln877Lys) c.3592C>A (p.Gln1198Lys) | |
1 | g.197090853A>C | CA344002257 | ASPM | n.2920T>G c.9633T>G (p.Ile3211Met) c.9855T>G (p.Ile3285Met) c.9609T>G (p.Ile3203Met) c.4878T>G (p.Ile1626Met) c.2628T>G (p.Ile876Met) c.3591T>G (p.Ile1197Met) | |
1 | g.197090853A>G | CA422672394 | ASPM | n.2920T>C c.9633T>C (p.Ile3211=) c.9855T>C (p.Ile3285=) c.9609T>C (p.Ile3203=) c.4878T>C (p.Ile1626=) c.2628T>C (p.Ile876=) c.3591T>C (p.Ile1197=) | COSMIC |
1 | g.197090853A>T | CA422672395 | ASPM | n.2920T>A c.9633T>A (p.Ile3211=) c.9855T>A (p.Ile3285=) c.9609T>A (p.Ile3203=) c.4878T>A (p.Ile1626=) c.2628T>A (p.Ile876=) c.3591T>A (p.Ile1197=) | |
1 | g.197090854A= | CA1217925658 | ASPM | n.2919T= c.9632T= (p.Ile3211=) c.9854T= (p.Ile3285=) c.9608T= (p.Ile3203=) c.4877T= (p.Ile1626=) c.2627T= (p.Ile876=) c.3590T= (p.Ile1197=) | |
1 | g.197090854A>C | CA344002262 | ASPM | n.2919T>G c.9632T>G (p.Ile3211Ser) c.9854T>G (p.Ile3285Ser) c.9608T>G (p.Ile3203Ser) c.4877T>G (p.Ile1626Ser) c.2627T>G (p.Ile876Ser) c.3590T>G (p.Ile1197Ser) | |
1 | g.197090854A>G | CA344002264 | ASPM | n.2919T>C c.9632T>C (p.Ile3211Thr) c.9854T>C (p.Ile3285Thr) c.9608T>C (p.Ile3203Thr) c.4877T>C (p.Ile1626Thr) c.2627T>C (p.Ile876Thr) c.3590T>C (p.Ile1197Thr) | gnomAD v4 |
1 | g.197090854A>T | CA344002260 | ASPM | n.2919T>A c.9632T>A (p.Ile3211Asn) c.9854T>A (p.Ile3285Asn) c.9608T>A (p.Ile3203Asn) c.4877T>A (p.Ile1626Asn) c.2627T>A (p.Ile876Asn) c.3590T>A (p.Ile1197Asn) | dbSNP gnomAD v4 |
1 | g.197090855T>A | CA344002268 | ASPM | n.2918A>T c.9631A>T (p.Ile3211Phe) c.9853A>T (p.Ile3285Phe) c.9607A>T (p.Ile3203Phe) c.4876A>T (p.Ile1626Phe) c.2626A>T (p.Ile876Phe) c.3589A>T (p.Ile1197Phe) | |
1 | g.197090855T>C | CA344002270 | ASPM | n.2918A>G c.9631A>G (p.Ile3211Val) c.9853A>G (p.Ile3285Val) c.9607A>G (p.Ile3203Val) c.4876A>G (p.Ile1626Val) c.2626A>G (p.Ile876Val) c.3589A>G (p.Ile1197Val) | gnomAD v4 |
1 | g.197090855T>G | CA344002271 | ASPM | n.2918A>C c.9631A>C (p.Ile3211Leu) c.9853A>C (p.Ile3285Leu) c.9607A>C (p.Ile3203Leu) c.4876A>C (p.Ile1626Leu) c.2626A>C (p.Ile876Leu) c.3589A>C (p.Ile1197Leu) | |
1 | g.197090856T>A | CA344002272 | ASPM | n.2917A>T c.9630A>T (p.Lys3210Asn) c.9852A>T (p.Lys3284Asn) c.9606A>T (p.Lys3202Asn) c.4875A>T (p.Lys1625Asn) c.2625A>T (p.Lys875Asn) c.3588A>T (p.Lys1196Asn) | |
1 | g.197090856T>C | CA422672396 | ASPM | n.2917A>G c.9630A>G (p.Lys3210=) c.9852A>G (p.Lys3284=) c.9606A>G (p.Lys3202=) c.4875A>G (p.Lys1625=) c.2625A>G (p.Lys875=) c.3588A>G (p.Lys1196=) | dbSNP |
1 | g.197090856T>G | CA344002274 | ASPM | n.2917A>C c.9630A>C (p.Lys3210Asn) c.9852A>C (p.Lys3284Asn) c.9606A>C (p.Lys3202Asn) c.4875A>C (p.Lys1625Asn) c.2625A>C (p.Lys875Asn) c.3588A>C (p.Lys1196Asn) | |
1 | g.197090856T= | CA1217925661 | ASPM | n.2917A= c.9630A= (p.Lys3210=) c.9852A= (p.Lys3284=) c.9606A= (p.Lys3202=) c.4875A= (p.Lys1625=) c.2625A= (p.Lys875=) c.3588A= (p.Lys1196=) | |
1 | g.197090857T>A | CA344002276 | ASPM | n.2916A>T c.9629A>T (p.Lys3210Ile) c.9851A>T (p.Lys3284Ile) c.9605A>T (p.Lys3202Ile) c.4874A>T (p.Lys1625Ile) c.2624A>T (p.Lys875Ile) c.3587A>T (p.Lys1196Ile) | |
1 | g.197090857T>C | CA344002280 | ASPM | n.2916A>G c.9629A>G (p.Lys3210Arg) c.9851A>G (p.Lys3284Arg) c.9605A>G (p.Lys3202Arg) c.4874A>G (p.Lys1625Arg) c.2624A>G (p.Lys875Arg) c.3587A>G (p.Lys1196Arg) | |
1 | g.197090857T>G | CA344002283 | ASPM | n.2916A>C c.9629A>C (p.Lys3210Thr) c.9851A>C (p.Lys3284Thr) c.9605A>C (p.Lys3202Thr) c.4874A>C (p.Lys1625Thr) c.2624A>C (p.Lys875Thr) c.3587A>C (p.Lys1196Thr) | |
1 | g.197090858T>A | CA344002285 | ASPM | n.2915A>T c.9628A>T (p.Lys3210Ter) c.9850A>T (p.Lys3284Ter) c.9604A>T (p.Lys3202Ter) c.4873A>T (p.Lys1625Ter) c.2623A>T (p.Lys875Ter) c.3586A>T (p.Lys1196Ter) | |
1 | g.197090858T>C | CA344002287 | ASPM | n.2915A>G c.9628A>G (p.Lys3210Glu) c.9850A>G (p.Lys3284Glu) c.9604A>G (p.Lys3202Glu) c.4873A>G (p.Lys1625Glu) c.2623A>G (p.Lys875Glu) c.3586A>G (p.Lys1196Glu) | |
1 | g.197090858T>G | CA344002291 | ASPM | n.2915A>C c.9628A>C (p.Lys3210Gln) c.9850A>C (p.Lys3284Gln) c.9604A>C (p.Lys3202Gln) c.4873A>C (p.Lys1625Gln) c.2623A>C (p.Lys875Gln) c.3586A>C (p.Lys1196Gln) | |
1 | g.197090859A>C | CA344002294 | ASPM | n.2914T>G c.9627T>G (p.Ile3209Met) c.9849T>G (p.Ile3283Met) c.9603T>G (p.Ile3201Met) c.4872T>G (p.Ile1624Met) c.2622T>G (p.Ile874Met) c.3585T>G (p.Ile1195Met) | |
1 | g.197090859A>G | CA422672397 | ASPM | n.2914T>C c.9627T>C (p.Ile3209=) c.9849T>C (p.Ile3283=) c.9603T>C (p.Ile3201=) c.4872T>C (p.Ile1624=) c.2622T>C (p.Ile874=) c.3585T>C (p.Ile1195=) | |
1 | g.197090859A>T | CA422672398 | ASPM | n.2914T>A c.9627T>A (p.Ile3209=) c.9849T>A (p.Ile3283=) c.9603T>A (p.Ile3201=) c.4872T>A (p.Ile1624=) c.2622T>A (p.Ile874=) c.3585T>A (p.Ile1195=) | |
1 | g.197090860A= | CA1217925665 | ASPM | n.2913T= c.9626T= (p.Ile3209=) c.9848T= (p.Ile3283=) c.9602T= (p.Ile3201=) c.4871T= (p.Ile1624=) c.2621T= (p.Ile874=) c.3584T= (p.Ile1195=) | |
1 | g.197090860A>C | CA344002297 | ASPM | n.2913T>G c.9626T>G (p.Ile3209Ser) c.9848T>G (p.Ile3283Ser) c.9602T>G (p.Ile3201Ser) c.4871T>G (p.Ile1624Ser) c.2621T>G (p.Ile874Ser) c.3584T>G (p.Ile1195Ser) | |
1 | g.197090860A>G | CA16603499 | ASPM | n.2913T>C c.9626T>C (p.Ile3209Thr) c.9848T>C (p.Ile3283Thr) c.9602T>C (p.Ile3201Thr) c.4871T>C (p.Ile1624Thr) c.2621T>C (p.Ile874Thr) c.3584T>C (p.Ile1195Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090860A>T | CA344002296 | ASPM | n.2913T>A c.9626T>A (p.Ile3209Asn) c.9848T>A (p.Ile3283Asn) c.9602T>A (p.Ile3201Asn) c.4871T>A (p.Ile1624Asn) c.2621T>A (p.Ile874Asn) c.3584T>A (p.Ile1195Asn) | gnomAD v4 |
1 | g.197090861T>A | CA344002298 | ASPM | n.2912A>T c.9625A>T (p.Ile3209Phe) c.9847A>T (p.Ile3283Phe) c.9601A>T (p.Ile3201Phe) c.4870A>T (p.Ile1624Phe) c.2620A>T (p.Ile874Phe) c.3583A>T (p.Ile1195Phe) | |
1 | g.197090861T>C | CA344002300 | ASPM | n.2912A>G c.9625A>G (p.Ile3209Val) c.9847A>G (p.Ile3283Val) c.9601A>G (p.Ile3201Val) c.4870A>G (p.Ile1624Val) c.2620A>G (p.Ile874Val) c.3583A>G (p.Ile1195Val) | gnomAD v4 |
1 | g.197090861T>G | CA344002301 | ASPM | n.2912A>C c.9625A>C (p.Ile3209Leu) c.9847A>C (p.Ile3283Leu) c.9601A>C (p.Ile3201Leu) c.4870A>C (p.Ile1624Leu) c.2620A>C (p.Ile874Leu) c.3583A>C (p.Ile1195Leu) | |
1 | g.197090862G>A | CA422672399 | ASPM | n.2911C>T c.9624C>T (p.Ile3208=) c.9846C>T (p.Ile3282=) c.9600C>T (p.Ile3200=) c.4869C>T (p.Ile1623=) c.2619C>T (p.Ile873=) c.3582C>T (p.Ile1194=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090862G>C | CA344002304 | ASPM | n.2911C>G c.9624C>G (p.Ile3208Met) c.9846C>G (p.Ile3282Met) c.9600C>G (p.Ile3200Met) c.4869C>G (p.Ile1623Met) c.2619C>G (p.Ile873Met) c.3582C>G (p.Ile1194Met) | |
1 | g.197090862G= | CA1217925669 | ASPM | n.2911C= c.9624C= (p.Ile3208=) c.9846C= (p.Ile3282=) c.9600C= (p.Ile3200=) c.4869C= (p.Ile1623=) c.2619C= (p.Ile873=) c.3582C= (p.Ile1194=) | |
1 | g.197090862G>T | CA1308913 | ASPM | n.2911C>A c.9624C>A (p.Ile3208=) c.9846C>A (p.Ile3282=) c.9600C>A (p.Ile3200=) c.4869C>A (p.Ile1623=) c.2619C>A (p.Ile873=) c.3582C>A (p.Ile1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090863A>C | CA344002314 | ASPM | n.2910T>G c.9623T>G (p.Ile3208Ser) c.9845T>G (p.Ile3282Ser) c.9599T>G (p.Ile3200Ser) c.4868T>G (p.Ile1623Ser) c.2618T>G (p.Ile873Ser) c.3581T>G (p.Ile1194Ser) | |
1 | g.197090863A>G | CA344002313 | ASPM | n.2910T>C c.9623T>C (p.Ile3208Thr) c.9845T>C (p.Ile3282Thr) c.9599T>C (p.Ile3200Thr) c.4868T>C (p.Ile1623Thr) c.2618T>C (p.Ile873Thr) c.3581T>C (p.Ile1194Thr) | |
1 | g.197090863A>T | CA344002311 | ASPM | n.2910T>A c.9623T>A (p.Ile3208Asn) c.9845T>A (p.Ile3282Asn) c.9599T>A (p.Ile3200Asn) c.4868T>A (p.Ile1623Asn) c.2618T>A (p.Ile873Asn) c.3581T>A (p.Ile1194Asn) | |
1 | g.197090864T>A | CA344002315 | ASPM | n.2909A>T c.9622A>T (p.Ile3208Phe) c.9844A>T (p.Ile3282Phe) c.9598A>T (p.Ile3200Phe) c.4867A>T (p.Ile1623Phe) c.2617A>T (p.Ile873Phe) c.3580A>T (p.Ile1194Phe) | |
1 | g.197090864T>C | CA344002317 | ASPM | n.2909A>G c.9622A>G (p.Ile3208Val) c.9844A>G (p.Ile3282Val) c.9598A>G (p.Ile3200Val) c.4867A>G (p.Ile1623Val) c.2617A>G (p.Ile873Val) c.3580A>G (p.Ile1194Val) | gnomAD v4 |
1 | g.197090864T>G | CA344002319 | ASPM | n.2909A>C c.9622A>C (p.Ile3208Leu) c.9844A>C (p.Ile3282Leu) c.9598A>C (p.Ile3200Leu) c.4867A>C (p.Ile1623Leu) c.2617A>C (p.Ile873Leu) c.3580A>C (p.Ile1194Leu) | |
1 | g.197090865T>A | CA422672401 | ASPM | n.2908A>T c.9621A>T (p.Gly3207=) c.9843A>T (p.Gly3281=) c.9597A>T (p.Gly3199=) c.4866A>T (p.Gly1622=) c.2616A>T (p.Gly872=) c.3579A>T (p.Gly1193=) | |
1 | g.197090865T>C | CA422672402 | ASPM | n.2908A>G c.9621A>G (p.Gly3207=) c.9843A>G (p.Gly3281=) c.9597A>G (p.Gly3199=) c.4866A>G (p.Gly1622=) c.2616A>G (p.Gly872=) c.3579A>G (p.Gly1193=) | dbSNP |
1 | g.197090865T>G | CA422672403 | ASPM | n.2908A>C c.9621A>C (p.Gly3207=) c.9843A>C (p.Gly3281=) c.9597A>C (p.Gly3199=) c.4866A>C (p.Gly1622=) c.2616A>C (p.Gly872=) c.3579A>C (p.Gly1193=) | |
1 | g.197090865T= | CA1217925672 | ASPM | n.2908A= c.9621A= (p.Gly3207=) c.9843A= (p.Gly3281=) c.9597A= (p.Gly3199=) c.4866A= (p.Gly1622=) c.2616A= (p.Gly872=) c.3579A= (p.Gly1193=) | |
1 | g.197090866C>A | CA344002321 | ASPM | n.2907G>T c.9620G>T (p.Gly3207Val) c.9842G>T (p.Gly3281Val) c.9596G>T (p.Gly3199Val) c.4865G>T (p.Gly1622Val) c.2615G>T (p.Gly872Val) c.3578G>T (p.Gly1193Val) | |
1 | g.197090866C= | CA1217925676 | ASPM | n.2907G= c.9620G= (p.Gly3207=) c.9842G= (p.Gly3281=) c.9596G= (p.Gly3199=) c.4865G= (p.Gly1622=) c.2615G= (p.Gly872=) c.3578G= (p.Gly1193=) | |
1 | g.197090866C>G | CA344002323 | ASPM | n.2907G>C c.9620G>C (p.Gly3207Ala) c.9842G>C (p.Gly3281Ala) c.9596G>C (p.Gly3199Ala) c.4865G>C (p.Gly1622Ala) c.2615G>C (p.Gly872Ala) c.3578G>C (p.Gly1193Ala) | |
1 | g.197090866C>T | CA344002324 | ASPM | n.2907G>A c.9620G>A (p.Gly3207Glu) c.9842G>A (p.Gly3281Glu) c.9596G>A (p.Gly3199Glu) c.4865G>A (p.Gly1622Glu) c.2615G>A (p.Gly872Glu) c.3578G>A (p.Gly1193Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090867C>A | CA344002328 | ASPM | n.2906G>T c.9619G>T (p.Gly3207Ter) c.9841G>T (p.Gly3281Ter) c.9595G>T (p.Gly3199Ter) c.4864G>T (p.Gly1622Ter) c.2614G>T (p.Gly872Ter) c.3577G>T (p.Gly1193Ter) | |
1 | g.197090867C>G | CA344002340 | ASPM | n.2906G>C c.9619G>C (p.Gly3207Arg) c.9841G>C (p.Gly3281Arg) c.9595G>C (p.Gly3199Arg) c.4864G>C (p.Gly1622Arg) c.2614G>C (p.Gly872Arg) c.3577G>C (p.Gly1193Arg) | |
1 | g.197090867C>T | CA344002337 | ASPM | n.2906G>A c.9619G>A (p.Gly3207Arg) c.9841G>A (p.Gly3281Arg) c.9595G>A (p.Gly3199Arg) c.4864G>A (p.Gly1622Arg) c.2614G>A (p.Gly872Arg) c.3577G>A (p.Gly1193Arg) | |
1 | g.197090868A>C | CA344002343 | ASPM | n.2905T>G c.9618T>G (p.Ser3206Arg) c.9840T>G (p.Ser3280Arg) c.9594T>G (p.Ser3198Arg) c.4863T>G (p.Ser1621Arg) c.2613T>G (p.Ser871Arg) c.3576T>G (p.Ser1192Arg) | |
1 | g.197090868A>G | CA422672404 | ASPM | n.2905T>C c.9618T>C (p.Ser3206=) c.9840T>C (p.Ser3280=) c.9594T>C (p.Ser3198=) c.4863T>C (p.Ser1621=) c.2613T>C (p.Ser871=) c.3576T>C (p.Ser1192=) | |
1 | g.197090868A>T | CA344002345 | ASPM | n.2905T>A c.9618T>A (p.Ser3206Arg) c.9840T>A (p.Ser3280Arg) c.9594T>A (p.Ser3198Arg) c.4863T>A (p.Ser1621Arg) c.2613T>A (p.Ser871Arg) c.3576T>A (p.Ser1192Arg) | |
1 | g.197090869C>A | CA344002346 | ASPM | n.2904G>T c.9617G>T (p.Ser3206Ile) c.9839G>T (p.Ser3280Ile) c.9593G>T (p.Ser3198Ile) c.4862G>T (p.Ser1621Ile) c.2612G>T (p.Ser871Ile) c.3575G>T (p.Ser1192Ile) | |
1 | g.197090869C= | CA1217925678 | ASPM | n.2904G= c.9617G= (p.Ser3206=) c.9839G= (p.Ser3280=) c.9593G= (p.Ser3198=) c.4862G= (p.Ser1621=) c.2612G= (p.Ser871=) c.3575G= (p.Ser1192=) | |
1 | g.197090869C>G | CA1308914 | ASPM | n.2904G>C c.9617G>C (p.Ser3206Thr) c.9839G>C (p.Ser3280Thr) c.9593G>C (p.Ser3198Thr) c.4862G>C (p.Ser1621Thr) c.2612G>C (p.Ser871Thr) c.3575G>C (p.Ser1192Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.197090869C>T | CA344002347 | ASPM | n.2904G>A c.9617G>A (p.Ser3206Asn) c.9839G>A (p.Ser3280Asn) c.9593G>A (p.Ser3198Asn) c.4862G>A (p.Ser1621Asn) c.2612G>A (p.Ser871Asn) c.3575G>A (p.Ser1192Asn) | dbSNP |
1 | g.197090870T>A | CA344002350 | ASPM | n.2903A>T c.9616A>T (p.Ser3206Cys) c.9838A>T (p.Ser3280Cys) c.9592A>T (p.Ser3198Cys) c.4861A>T (p.Ser1621Cys) c.2611A>T (p.Ser871Cys) c.3574A>T (p.Ser1192Cys) | |
1 | g.197090870T>C | CA344002352 | ASPM | n.2903A>G c.9616A>G (p.Ser3206Gly) c.9838A>G (p.Ser3280Gly) c.9592A>G (p.Ser3198Gly) c.4861A>G (p.Ser1621Gly) c.2611A>G (p.Ser871Gly) c.3574A>G (p.Ser1192Gly) | COSMIC |
1 | g.197090870T>G | CA344002355 | ASPM | n.2903A>C c.9616A>C (p.Ser3206Arg) c.9838A>C (p.Ser3280Arg) c.9592A>C (p.Ser3198Arg) c.4861A>C (p.Ser1621Arg) c.2611A>C (p.Ser871Arg) c.3574A>C (p.Ser1192Arg) | |
1 | g.197090871A= | CA1217925683 | ASPM | n.2902T= c.9615T= (p.Thr3205=) c.9837T= (p.Thr3279=) c.9591T= (p.Thr3197=) c.4860T= (p.Thr1620=) c.2610T= (p.Thr870=) c.3573T= (p.Thr1191=) | |
1 | g.197090871A>C | CA422672405 | ASPM | n.2902T>G c.9615T>G (p.Thr3205=) c.9837T>G (p.Thr3279=) c.9591T>G (p.Thr3197=) c.4860T>G (p.Thr1620=) c.2610T>G (p.Thr870=) c.3573T>G (p.Thr1191=) | gnomAD v4 |
1 | g.197090871A>G | CA422672406 | ASPM | n.2902T>C c.9615T>C (p.Thr3205=) c.9837T>C (p.Thr3279=) c.9591T>C (p.Thr3197=) c.4860T>C (p.Thr1620=) c.2610T>C (p.Thr870=) c.3573T>C (p.Thr1191=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090871A>T | CA422672407 | ASPM | n.2902T>A c.9615T>A (p.Thr3205=) c.9837T>A (p.Thr3279=) c.9591T>A (p.Thr3197=) c.4860T>A (p.Thr1620=) c.2610T>A (p.Thr870=) c.3573T>A (p.Thr1191=) | |
1 | g.197090872G>A | CA344002358 | ASPM | n.2901C>T c.9614C>T (p.Thr3205Ile) c.9836C>T (p.Thr3279Ile) c.9590C>T (p.Thr3197Ile) c.4859C>T (p.Thr1620Ile) c.2609C>T (p.Thr870Ile) c.3572C>T (p.Thr1191Ile) | |
1 | g.197090872G>C | CA344002361 | ASPM | n.2901C>G c.9614C>G (p.Thr3205Ser) c.9836C>G (p.Thr3279Ser) c.9590C>G (p.Thr3197Ser) c.4859C>G (p.Thr1620Ser) c.2609C>G (p.Thr870Ser) c.3572C>G (p.Thr1191Ser) | |
1 | g.197090872G>T | CA344002362 | ASPM | n.2901C>A c.9614C>A (p.Thr3205Asn) c.9836C>A (p.Thr3279Asn) c.9590C>A (p.Thr3197Asn) c.4859C>A (p.Thr1620Asn) c.2609C>A (p.Thr870Asn) c.3572C>A (p.Thr1191Asn) | gnomAD v4 |
1 | g.197090873T>A | CA344002369 | ASPM | n.2900A>T c.9613A>T (p.Thr3205Ser) c.9835A>T (p.Thr3279Ser) c.9589A>T (p.Thr3197Ser) c.4858A>T (p.Thr1620Ser) c.2608A>T (p.Thr870Ser) c.3571A>T (p.Thr1191Ser) | gnomAD v4 |
1 | g.197090873T>C | CA344002365 | ASPM | n.2900A>G c.9613A>G (p.Thr3205Ala) c.9835A>G (p.Thr3279Ala) c.9589A>G (p.Thr3197Ala) c.4858A>G (p.Thr1620Ala) c.2608A>G (p.Thr870Ala) c.3571A>G (p.Thr1191Ala) | |
1 | g.197090873T>G | CA344002367 | ASPM | n.2900A>C c.9613A>C (p.Thr3205Pro) c.9835A>C (p.Thr3279Pro) c.9589A>C (p.Thr3197Pro) c.4858A>C (p.Thr1620Pro) c.2608A>C (p.Thr870Pro) c.3571A>C (p.Thr1191Pro) | |
1 | g.197090874G>A | CA422672408 | ASPM | n.2899C>T c.9612C>T (p.Phe3204=) c.9834C>T (p.Phe3278=) c.9588C>T (p.Phe3196=) c.4857C>T (p.Phe1619=) c.2607C>T (p.Phe869=) c.3570C>T (p.Phe1190=) | |
1 | g.197090874G>C | CA344002372 | ASPM | n.2899C>G c.9612C>G (p.Phe3204Leu) c.9834C>G (p.Phe3278Leu) c.9588C>G (p.Phe3196Leu) c.4857C>G (p.Phe1619Leu) c.2607C>G (p.Phe869Leu) c.3570C>G (p.Phe1190Leu) | |
1 | g.197090874G>T | CA344002373 | ASPM | n.2899C>A c.9612C>A (p.Phe3204Leu) c.9834C>A (p.Phe3278Leu) c.9588C>A (p.Phe3196Leu) c.4857C>A (p.Phe1619Leu) c.2607C>A (p.Phe869Leu) c.3570C>A (p.Phe1190Leu) | |
1 | g.197090875A>C | CA344002374 | ASPM | n.2898T>G c.9611T>G (p.Phe3204Cys) c.9833T>G (p.Phe3278Cys) c.9587T>G (p.Phe3196Cys) c.4856T>G (p.Phe1619Cys) c.2606T>G (p.Phe869Cys) c.3569T>G (p.Phe1190Cys) | |
1 | g.197090875A>G | CA344002375 | ASPM | n.2898T>C c.9611T>C (p.Phe3204Ser) c.9833T>C (p.Phe3278Ser) c.9587T>C (p.Phe3196Ser) c.4856T>C (p.Phe1619Ser) c.2606T>C (p.Phe869Ser) c.3569T>C (p.Phe1190Ser) | |
1 | g.197090875A>T | CA344002377 | ASPM | n.2898T>A c.9611T>A (p.Phe3204Tyr) c.9833T>A (p.Phe3278Tyr) c.9587T>A (p.Phe3196Tyr) c.4856T>A (p.Phe1619Tyr) c.2606T>A (p.Phe869Tyr) c.3569T>A (p.Phe1190Tyr) | |
1 | g.197090876A>C | CA344002384 | ASPM | n.2897T>G c.9610T>G (p.Phe3204Val) c.9832T>G (p.Phe3278Val) c.9586T>G (p.Phe3196Val) c.4855T>G (p.Phe1619Val) c.2605T>G (p.Phe869Val) c.3568T>G (p.Phe1190Val) | |
1 | g.197090876A>G | CA344002380 | ASPM | n.2897T>C c.9610T>C (p.Phe3204Leu) c.9832T>C (p.Phe3278Leu) c.9586T>C (p.Phe3196Leu) c.4855T>C (p.Phe1619Leu) c.2605T>C (p.Phe869Leu) c.3568T>C (p.Phe1190Leu) | |
1 | g.197090876A>T | CA344002383 | ASPM | n.2897T>A c.9610T>A (p.Phe3204Ile) c.9832T>A (p.Phe3278Ile) c.9586T>A (p.Phe3196Ile) c.4855T>A (p.Phe1619Ile) c.2605T>A (p.Phe869Ile) c.3568T>A (p.Phe1190Ile) | gnomAD v4 COSMIC |
1 | g.197090877T>A | CA344002385 | ASPM | n.2896A>T c.9609A>T (p.Lys3203Asn) c.9831A>T (p.Lys3277Asn) c.9585A>T (p.Lys3195Asn) c.4854A>T (p.Lys1618Asn) c.2604A>T (p.Lys868Asn) c.3567A>T (p.Lys1189Asn) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090877T>C | CA422672409 | ASPM | n.2896A>G c.9609A>G (p.Lys3203=) c.9831A>G (p.Lys3277=) c.9585A>G (p.Lys3195=) c.4854A>G (p.Lys1618=) c.2604A>G (p.Lys868=) c.3567A>G (p.Lys1189=) | dbSNP gnomAD v4 |
1 | g.197090877T>G | CA344002386 | ASPM | n.2896A>C c.9609A>C (p.Lys3203Asn) c.9831A>C (p.Lys3277Asn) c.9585A>C (p.Lys3195Asn) c.4854A>C (p.Lys1618Asn) c.2604A>C (p.Lys868Asn) c.3567A>C (p.Lys1189Asn) | |
1 | g.197090877T= | CA1217925685 | ASPM | n.2896A= c.9609A= (p.Lys3203=) c.9831A= (p.Lys3277=) c.9585A= (p.Lys3195=) c.4854A= (p.Lys1618=) c.2604A= (p.Lys868=) c.3567A= (p.Lys1189=) | |
1 | g.197090878T>A | CA344002391 | ASPM | n.2895A>T c.9608A>T (p.Lys3203Ile) c.9830A>T (p.Lys3277Ile) c.9584A>T (p.Lys3195Ile) c.4853A>T (p.Lys1618Ile) c.2603A>T (p.Lys868Ile) c.3566A>T (p.Lys1189Ile) | |
1 | g.197090878T>C | CA344002393 | ASPM | n.2895A>G c.9608A>G (p.Lys3203Arg) c.9830A>G (p.Lys3277Arg) c.9584A>G (p.Lys3195Arg) c.4853A>G (p.Lys1618Arg) c.2603A>G (p.Lys868Arg) c.3566A>G (p.Lys1189Arg) | dbSNP |
1 | g.197090878T>G | CA344002395 | ASPM | n.2895A>C c.9608A>C (p.Lys3203Thr) c.9830A>C (p.Lys3277Thr) c.9584A>C (p.Lys3195Thr) c.4853A>C (p.Lys1618Thr) c.2603A>C (p.Lys868Thr) c.3566A>C (p.Lys1189Thr) | |
1 | g.197090878T= | CA1217925688 | ASPM | n.2895A= c.9608A= (p.Lys3203=) c.9830A= (p.Lys3277=) c.9584A= (p.Lys3195=) c.4853A= (p.Lys1618=) c.2603A= (p.Lys868=) c.3566A= (p.Lys1189=) | |
1 | g.197090879T>A | CA344002398 | ASPM | n.2894A>T c.9607A>T (p.Lys3203Ter) c.9829A>T (p.Lys3277Ter) c.9583A>T (p.Lys3195Ter) c.4852A>T (p.Lys1618Ter) c.2602A>T (p.Lys868Ter) c.3565A>T (p.Lys1189Ter) | |
1 | g.197090879T>C | CA344002400 | ASPM | n.2894A>G c.9607A>G (p.Lys3203Glu) c.9829A>G (p.Lys3277Glu) c.9583A>G (p.Lys3195Glu) c.4852A>G (p.Lys1618Glu) c.2602A>G (p.Lys868Glu) c.3565A>G (p.Lys1189Glu) | |
1 | g.197090879T>G | CA344002403 | ASPM | n.2894A>C c.9607A>C (p.Lys3203Gln) c.9829A>C (p.Lys3277Gln) c.9583A>C (p.Lys3195Gln) c.4852A>C (p.Lys1618Gln) c.2602A>C (p.Lys868Gln) c.3565A>C (p.Lys1189Gln) | |
1 | g.197090880T>A | CA344002407 | ASPM | n.2893A>T c.9606A>T (p.Glu3202Asp) c.9828A>T (p.Glu3276Asp) c.9582A>T (p.Glu3194Asp) c.4851A>T (p.Glu1617Asp) c.2601A>T (p.Glu867Asp) c.3564A>T (p.Glu1188Asp) | |
1 | g.197090880T>C | CA422672410 | ASPM | n.2893A>G c.9606A>G (p.Glu3202=) c.9828A>G (p.Glu3276=) c.9582A>G (p.Glu3194=) c.4851A>G (p.Glu1617=) c.2601A>G (p.Glu867=) c.3564A>G (p.Glu1188=) | |
1 | g.197090880T>G | CA344002409 | ASPM | n.2893A>C c.9606A>C (p.Glu3202Asp) c.9828A>C (p.Glu3276Asp) c.9582A>C (p.Glu3194Asp) c.4851A>C (p.Glu1617Asp) c.2601A>C (p.Glu867Asp) c.3564A>C (p.Glu1188Asp) | |
1 | g.197090881T>A | CA344002412 | ASPM | n.2892A>T c.9605A>T (p.Glu3202Val) c.9827A>T (p.Glu3276Val) c.9581A>T (p.Glu3194Val) c.4850A>T (p.Glu1617Val) c.2600A>T (p.Glu867Val) c.3563A>T (p.Glu1188Val) | |
1 | g.197090881T>C | CA344002414 | ASPM | n.2892A>G c.9605A>G (p.Glu3202Gly) c.9827A>G (p.Glu3276Gly) c.9581A>G (p.Glu3194Gly) c.4850A>G (p.Glu1617Gly) c.2600A>G (p.Glu867Gly) c.3563A>G (p.Glu1188Gly) | gnomAD v4 |
1 | g.197090881T>G | CA344002417 | ASPM | n.2892A>C c.9605A>C (p.Glu3202Ala) c.9827A>C (p.Glu3276Ala) c.9581A>C (p.Glu3194Ala) c.4850A>C (p.Glu1617Ala) c.2600A>C (p.Glu867Ala) c.3563A>C (p.Glu1188Ala) | |
1 | g.197090882C>A | CA344002420 | ASPM | n.2891G>T c.9604G>T (p.Glu3202Ter) c.9826G>T (p.Glu3276Ter) c.9580G>T (p.Glu3194Ter) c.4849G>T (p.Glu1617Ter) c.2599G>T (p.Glu867Ter) c.3562G>T (p.Glu1188Ter) | |
1 | g.197090882C= | CA1217925690 | ASPM | n.2891G= c.9604G= (p.Glu3202=) c.9826G= (p.Glu3276=) c.9580G= (p.Glu3194=) c.4849G= (p.Glu1617=) c.2599G= (p.Glu867=) c.3562G= (p.Glu1188=) | |
1 | g.197090882C>G | CA344002423 | ASPM | n.2891G>C c.9604G>C (p.Glu3202Gln) c.9826G>C (p.Glu3276Gln) c.9580G>C (p.Glu3194Gln) c.4849G>C (p.Glu1617Gln) c.2599G>C (p.Glu867Gln) c.3562G>C (p.Glu1188Gln) | |
1 | g.197090882C>T | CA35862183 | ASPM | n.2891G>A c.9604G>A (p.Glu3202Lys) c.9826G>A (p.Glu3276Lys) c.9580G>A (p.Glu3194Lys) c.4849G>A (p.Glu1617Lys) c.2599G>A (p.Glu867Lys) c.3562G>A (p.Glu1188Lys) | dbSNP |
1 | g.197090883C>A | CA344002428 | ASPM | n.2890G>T c.9603G>T (p.Gln3201His) c.9825G>T (p.Gln3275His) c.9579G>T (p.Gln3193His) c.4848G>T (p.Gln1616His) c.2598G>T (p.Gln866His) c.3561G>T (p.Gln1187His) | |
1 | g.197090883C>G | CA344002430 | ASPM | n.2890G>C c.9603G>C (p.Gln3201His) c.9825G>C (p.Gln3275His) c.9579G>C (p.Gln3193His) c.4848G>C (p.Gln1616His) c.2598G>C (p.Gln866His) c.3561G>C (p.Gln1187His) | |
1 | g.197090883C>T | CA422672411 | ASPM | n.2890G>A c.9603G>A (p.Gln3201=) c.9825G>A (p.Gln3275=) c.9579G>A (p.Gln3193=) c.4848G>A (p.Gln1616=) c.2598G>A (p.Gln866=) c.3561G>A (p.Gln1187=) | |
1 | g.197090884T>A | CA344002434 | ASPM | n.2889A>T c.9602A>T (p.Gln3201Leu) c.9824A>T (p.Gln3275Leu) c.9578A>T (p.Gln3193Leu) c.4847A>T (p.Gln1616Leu) c.2597A>T (p.Gln866Leu) c.3560A>T (p.Gln1187Leu) | |
1 | g.197090884T>C | CA344002436 | ASPM | n.2889A>G c.9602A>G (p.Gln3201Arg) c.9824A>G (p.Gln3275Arg) c.9578A>G (p.Gln3193Arg) c.4847A>G (p.Gln1616Arg) c.2597A>G (p.Gln866Arg) c.3560A>G (p.Gln1187Arg) | |
1 | g.197090884T>G | CA344002438 | ASPM | n.2889A>C c.9602A>C (p.Gln3201Pro) c.9824A>C (p.Gln3275Pro) c.9578A>C (p.Gln3193Pro) c.4847A>C (p.Gln1616Pro) c.2597A>C (p.Gln866Pro) c.3560A>C (p.Gln1187Pro) | |
1 | g.197090885G>A | CA344002440 | ASPM | n.2888C>T c.9601C>T (p.Gln3201Ter) c.9823C>T (p.Gln3275Ter) c.9577C>T (p.Gln3193Ter) c.4846C>T (p.Gln1616Ter) c.2596C>T (p.Gln866Ter) c.3559C>T (p.Gln1187Ter) | |
1 | g.197090885G>C | CA344002442 | ASPM | n.2888C>G c.9601C>G (p.Gln3201Glu) c.9823C>G (p.Gln3275Glu) c.9577C>G (p.Gln3193Glu) c.4846C>G (p.Gln1616Glu) c.2596C>G (p.Gln866Glu) c.3559C>G (p.Gln1187Glu) | |
1 | g.197090885G>T | CA344002444 | ASPM | n.2888C>A c.9601C>A (p.Gln3201Lys) c.9823C>A (p.Gln3275Lys) c.9577C>A (p.Gln3193Lys) c.4846C>A (p.Gln1616Lys) c.2596C>A (p.Gln866Lys) c.3559C>A (p.Gln1187Lys) | |
1 | g.197090886del | CA2649660857 | ASPM | n.2887del c.9600del (p.Lys3200AsnfsTer?) c.9822del (p.Lys3274AsnfsTer?) c.9576del (p.Lys3192AsnfsTer?) c.4845del (p.Lys1615AsnfsTer?) c.2595del (p.Lys865AsnfsTer?) c.3558del (p.Lys1186AsnfsTer?) | gnomAD v4 |
1 | g.197090886C>A | CA344002446 | ASPM | n.2887G>T c.9600G>T (p.Lys3200Asn) c.9822G>T (p.Lys3274Asn) c.9576G>T (p.Lys3192Asn) c.4845G>T (p.Lys1615Asn) c.2595G>T (p.Lys865Asn) c.3558G>T (p.Lys1186Asn) | |
1 | g.197090886C>G | CA344002447 | ASPM | n.2887G>C c.9600G>C (p.Lys3200Asn) c.9822G>C (p.Lys3274Asn) c.9576G>C (p.Lys3192Asn) c.4845G>C (p.Lys1615Asn) c.2595G>C (p.Lys865Asn) c.3558G>C (p.Lys1186Asn) | |
1 | g.197090886C>T | CA422672412 | ASPM | n.2887G>A c.9600G>A (p.Lys3200=) c.9822G>A (p.Lys3274=) c.9576G>A (p.Lys3192=) c.4845G>A (p.Lys1615=) c.2595G>A (p.Lys865=) c.3558G>A (p.Lys1186=) | |
1 | g.197090887T>A | CA344002450 | ASPM | n.2886A>T c.9599A>T (p.Lys3200Met) c.9821A>T (p.Lys3274Met) c.9575A>T (p.Lys3192Met) c.4844A>T (p.Lys1615Met) c.2594A>T (p.Lys865Met) c.3557A>T (p.Lys1186Met) | gnomAD v4 |
1 | g.197090887T>C | CA344002452 | ASPM | n.2886A>G c.9599A>G (p.Lys3200Arg) c.9821A>G (p.Lys3274Arg) c.9575A>G (p.Lys3192Arg) c.4844A>G (p.Lys1615Arg) c.2594A>G (p.Lys865Arg) c.3557A>G (p.Lys1186Arg) | |
1 | g.197090887T>G | CA344002455 | ASPM | n.2886A>C c.9599A>C (p.Lys3200Thr) c.9821A>C (p.Lys3274Thr) c.9575A>C (p.Lys3192Thr) c.4844A>C (p.Lys1615Thr) c.2594A>C (p.Lys865Thr) c.3557A>C (p.Lys1186Thr) | |
1 | g.197090888T>A | CA344002463 | ASPM | n.2885A>T c.9598A>T (p.Lys3200Ter) c.9820A>T (p.Lys3274Ter) c.9574A>T (p.Lys3192Ter) c.4843A>T (p.Lys1615Ter) c.2593A>T (p.Lys865Ter) c.3556A>T (p.Lys1186Ter) | |
1 | g.197090888T>C | CA344002459 | ASPM | n.2885A>G c.9598A>G (p.Lys3200Glu) c.9820A>G (p.Lys3274Glu) c.9574A>G (p.Lys3192Glu) c.4843A>G (p.Lys1615Glu) c.2593A>G (p.Lys865Glu) c.3556A>G (p.Lys1186Glu) | |
1 | g.197090888T>G | CA344002462 | ASPM | n.2885A>C c.9598A>C (p.Lys3200Gln) c.9820A>C (p.Lys3274Gln) c.9574A>C (p.Lys3192Gln) c.4843A>C (p.Lys1615Gln) c.2593A>C (p.Lys865Gln) c.3556A>C (p.Lys1186Gln) | |
1 | g.197090889T>A | CA344002466 | ASPM | n.2884A>T c.9597A>T (p.Lys3199Asn) c.9819A>T (p.Lys3273Asn) c.9573A>T (p.Lys3191Asn) c.4842A>T (p.Lys1614Asn) c.2592A>T (p.Lys864Asn) c.3555A>T (p.Lys1185Asn) | |
1 | g.197090889T>C | CA422672413 | ASPM | n.2884A>G c.9597A>G (p.Lys3199=) c.9819A>G (p.Lys3273=) c.9573A>G (p.Lys3191=) c.4842A>G (p.Lys1614=) c.2592A>G (p.Lys864=) c.3555A>G (p.Lys1185=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.197090889T>G | CA344002469 | ASPM | n.2884A>C c.9597A>C (p.Lys3199Asn) c.9819A>C (p.Lys3273Asn) c.9573A>C (p.Lys3191Asn) c.4842A>C (p.Lys1614Asn) c.2592A>C (p.Lys864Asn) c.3555A>C (p.Lys1185Asn) | |
1 | g.197090889T= | CA1217925692 | ASPM | n.2884A= c.9597A= (p.Lys3199=) c.9819A= (p.Lys3273=) c.9573A= (p.Lys3191=) c.4842A= (p.Lys1614=) c.2592A= (p.Lys864=) c.3555A= (p.Lys1185=) | |
1 | g.197090890T>A | CA344002472 | ASPM | n.2883A>T c.9596A>T (p.Lys3199Ile) c.9818A>T (p.Lys3273Ile) c.9572A>T (p.Lys3191Ile) c.4841A>T (p.Lys1614Ile) c.2591A>T (p.Lys864Ile) c.3554A>T (p.Lys1185Ile) | |
1 | g.197090890T>C | CA344002475 | ASPM | n.2883A>G c.9596A>G (p.Lys3199Arg) c.9818A>G (p.Lys3273Arg) c.9572A>G (p.Lys3191Arg) c.4841A>G (p.Lys1614Arg) c.2591A>G (p.Lys864Arg) c.3554A>G (p.Lys1185Arg) | |
1 | g.197090890T>G | CA344002477 | ASPM | n.2883A>C c.9596A>C (p.Lys3199Thr) c.9818A>C (p.Lys3273Thr) c.9572A>C (p.Lys3191Thr) c.4841A>C (p.Lys1614Thr) c.2591A>C (p.Lys864Thr) c.3554A>C (p.Lys1185Thr) | |
1 | g.197090891T>A | CA342302 | ASPM | n.2882A>T c.9595A>T (p.Lys3199Ter) c.9817A>T (p.Lys3273Ter) c.9571A>T (p.Lys3191Ter) c.4840A>T (p.Lys1614Ter) c.2590A>T (p.Lys864Ter) c.3553A>T (p.Lys1185Ter) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.197090891T>C | CA344002481 | ASPM | n.2882A>G c.9595A>G (p.Lys3199Glu) c.9817A>G (p.Lys3273Glu) c.9571A>G (p.Lys3191Glu) c.4840A>G (p.Lys1614Glu) c.2590A>G (p.Lys864Glu) c.3553A>G (p.Lys1185Glu) | |
1 | g.197090891T>G | CA344002488 | ASPM | n.2882A>C c.9595A>C (p.Lys3199Gln) c.9817A>C (p.Lys3273Gln) c.9571A>C (p.Lys3191Gln) c.4840A>C (p.Lys1614Gln) c.2590A>C (p.Lys864Gln) c.3553A>C (p.Lys1185Gln) | |
1 | g.197090891T= | CA1143355789 | ASPM | n.2882A= c.9595A= (p.Lys3199=) c.9817A= (p.Lys3273=) c.9571A= (p.Lys3191=) c.4840A= (p.Lys1614=) c.2590A= (p.Lys864=) c.3553A= (p.Lys1185=) | |
1 | g.197090892A= | CA1217925699 | ASPM | n.2881T= c.9594T= (p.Arg3198=) c.9816T= (p.Arg3272=) c.9570T= (p.Arg3190=) c.4839T= (p.Arg1613=) c.2589T= (p.Arg863=) c.3552T= (p.Arg1184=) | |
1 | g.197090892A>C | CA422672414 | ASPM | n.2881T>G c.9594T>G (p.Arg3198=) c.9816T>G (p.Arg3272=) c.9570T>G (p.Arg3190=) c.4839T>G (p.Arg1613=) c.2589T>G (p.Arg863=) c.3552T>G (p.Arg1184=) | |
1 | g.197090892A>G | CA422672415 | ASPM | n.2881T>C c.9594T>C (p.Arg3198=) c.9816T>C (p.Arg3272=) c.9570T>C (p.Arg3190=) c.4839T>C (p.Arg1613=) c.2589T>C (p.Arg863=) c.3552T>C (p.Arg1184=) | dbSNP gnomAD v2 |
1 | g.197090892A>T | CA422672416 | ASPM | n.2881T>A c.9594T>A (p.Arg3198=) c.9816T>A (p.Arg3272=) c.9570T>A (p.Arg3190=) c.4839T>A (p.Arg1613=) c.2589T>A (p.Arg863=) c.3552T>A (p.Arg1184=) | |
1 | g.197090893C>A | CA1308916 | ASPM | n.2880G>T c.9593G>T (p.Arg3198Leu) c.9815G>T (p.Arg3272Leu) c.9569G>T (p.Arg3190Leu) c.4838G>T (p.Arg1613Leu) c.2588G>T (p.Arg863Leu) c.3551G>T (p.Arg1184Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090893C= | CA1142047998 | ASPM | n.2880G= c.9593G= (p.Arg3198=) c.9815G= (p.Arg3272=) c.9569G= (p.Arg3190=) c.4838G= (p.Arg1613=) c.2588G= (p.Arg863=) c.3551G= (p.Arg1184=) | |
1 | g.197090893C>G | CA344002492 | ASPM | n.2880G>C c.9593G>C (p.Arg3198Pro) c.9815G>C (p.Arg3272Pro) c.9569G>C (p.Arg3190Pro) c.4838G>C (p.Arg1613Pro) c.2588G>C (p.Arg863Pro) c.3551G>C (p.Arg1184Pro) | |
1 | g.197090893C>T | CA1308915 | ASPM | n.2880G>A c.9593G>A (p.Arg3198His) c.9815G>A (p.Arg3272His) c.9569G>A (p.Arg3190His) c.4838G>A (p.Arg1613His) c.2588G>A (p.Arg863His) c.3551G>A (p.Arg1184His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090893_197090896delinsCGGA | CA1217925703 | ASPM | n.2877_2880delinsTCCG c.9590_9593delinsTCCG (p.Leu3197=) c.9812_9815delinsTCCG (p.Leu3271=) c.9566_9569delinsTCCG (p.Leu3189=) c.4835_4838delinsTCCG (p.Leu1612=) c.2585_2588delinsTCCG (p.Leu862=) c.3548_3551delinsTCCG (p.Leu1183=) | |
1 | g.197090894G>A | CA1308917 | ASPM | n.2879C>T c.9592C>T (p.Arg3198Cys) c.9814C>T (p.Arg3272Cys) c.9568C>T (p.Arg3190Cys) c.4837C>T (p.Arg1613Cys) c.2587C>T (p.Arg863Cys) c.3550C>T (p.Arg1184Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.197090894G>C | CA344002498 | ASPM | n.2879C>G c.9592C>G (p.Arg3198Gly) c.9814C>G (p.Arg3272Gly) c.9568C>G (p.Arg3190Gly) c.4837C>G (p.Arg1613Gly) c.2587C>G (p.Arg863Gly) c.3550C>G (p.Arg1184Gly) | gnomAD v4 |
1 | g.197090894G= | CA1217925707 | ASPM | n.2879C= c.9592C= (p.Arg3198=) c.9814C= (p.Arg3272=) c.9568C= (p.Arg3190=) c.4837C= (p.Arg1613=) c.2587C= (p.Arg863=) c.3550C= (p.Arg1184=) | |
1 | g.197090894G>T | CA1308918 | ASPM | n.2879C>A c.9592C>A (p.Arg3198Ser) c.9814C>A (p.Arg3272Ser) c.9568C>A (p.Arg3190Ser) c.4837C>A (p.Arg1613Ser) c.2587C>A (p.Arg863Ser) c.3550C>A (p.Arg1184Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.197090898_197090900del | CA528535104 | ASPM | n.2877_2879del c.9590_9592del (p.Leu3197del) c.9812_9814del (p.Leu3271del) c.9566_9568del (p.Leu3189del) c.4835_4837del (p.Leu1612del) c.2585_2587del (p.Leu862del) c.3548_3550del (p.Leu1183del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090895G>A | CA422672417 | ASPM | n.2878C>T c.9591C>T (p.Leu3197=) c.9813C>T (p.Leu3271=) c.9567C>T (p.Leu3189=) c.4836C>T (p.Leu1612=) c.2586C>T (p.Leu862=) c.3549C>T (p.Leu1183=) | gnomAD v4 |
1 | g.197090895G>C | CA422672418 | ASPM | n.2878C>G c.9591C>G (p.Leu3197=) c.9813C>G (p.Leu3271=) c.9567C>G (p.Leu3189=) c.4836C>G (p.Leu1612=) c.2586C>G (p.Leu862=) c.3549C>G (p.Leu1183=) | |
1 | g.197090895G= | CA1217925712 | ASPM | n.2878C= c.9591C= (p.Leu3197=) c.9813C= (p.Leu3271=) c.9567C= (p.Leu3189=) c.4836C= (p.Leu1612=) c.2586C= (p.Leu862=) c.3549C= (p.Leu1183=) | |
1 | g.197090895G>T | CA422672419 | ASPM | n.2878C>A c.9591C>A (p.Leu3197=) c.9813C>A (p.Leu3271=) c.9567C>A (p.Leu3189=) c.4836C>A (p.Leu1612=) c.2586C>A (p.Leu862=) c.3549C>A (p.Leu1183=) | dbSNP gnomAD v2 |
1 | g.197090896A>C | CA344002500 | ASPM | n.2877T>G c.9590T>G (p.Leu3197Arg) c.9812T>G (p.Leu3271Arg) c.9566T>G (p.Leu3189Arg) c.4835T>G (p.Leu1612Arg) c.2585T>G (p.Leu862Arg) c.3548T>G (p.Leu1183Arg) | |
1 | g.197090896A>G | CA344002503 | ASPM | n.2877T>C c.9590T>C (p.Leu3197Pro) c.9812T>C (p.Leu3271Pro) c.9566T>C (p.Leu3189Pro) c.4835T>C (p.Leu1612Pro) c.2585T>C (p.Leu862Pro) c.3548T>C (p.Leu1183Pro) | |
1 | g.197090896A>T | CA344002505 | ASPM | n.2877T>A c.9590T>A (p.Leu3197His) c.9812T>A (p.Leu3271His) c.9566T>A (p.Leu3189His) c.4835T>A (p.Leu1612His) c.2585T>A (p.Leu862His) c.3548T>A (p.Leu1183His) | |
1 | g.197090897G>A | CA344002507 | ASPM | n.2876C>T c.9589C>T (p.Leu3197Phe) c.9811C>T (p.Leu3271Phe) c.9565C>T (p.Leu3189Phe) c.4834C>T (p.Leu1612Phe) c.2584C>T (p.Leu862Phe) c.3547C>T (p.Leu1183Phe) | |
1 | g.197090897G>C | CA344002508 | ASPM | n.2876C>G c.9589C>G (p.Leu3197Val) c.9811C>G (p.Leu3271Val) c.9565C>G (p.Leu3189Val) c.4834C>G (p.Leu1612Val) c.2584C>G (p.Leu862Val) c.3547C>G (p.Leu1183Val) | |
1 | g.197090897G>T | CA344002509 | ASPM | n.2876C>A c.9589C>A (p.Leu3197Ile) c.9811C>A (p.Leu3271Ile) c.9565C>A (p.Leu3189Ile) c.4834C>A (p.Leu1612Ile) c.2584C>A (p.Leu862Ile) c.3547C>A (p.Leu1183Ile) | |
1 | g.197090898G>A | CA422672420 | ASPM | n.2875C>T c.9588C>T (p.Leu3196=) c.9810C>T (p.Leu3270=) c.9564C>T (p.Leu3188=) c.4833C>T (p.Leu1611=) c.2583C>T (p.Leu861=) c.3546C>T (p.Leu1182=) | dbSNP gnomAD v2 |
1 | g.197090898G>C | CA35862187 | ASPM | n.2875C>G c.9588C>G (p.Leu3196=) c.9810C>G (p.Leu3270=) c.9564C>G (p.Leu3188=) c.4833C>G (p.Leu1611=) c.2583C>G (p.Leu861=) c.3546C>G (p.Leu1182=) | dbSNP gnomAD v4 |
1 | g.197090898G= | CA1217925713 | ASPM | n.2875C= c.9588C= (p.Leu3196=) c.9810C= (p.Leu3270=) c.9564C= (p.Leu3188=) c.4833C= (p.Leu1611=) c.2583C= (p.Leu861=) c.3546C= (p.Leu1182=) | |
1 | g.197090898G>T | CA35862190 | ASPM | n.2875C>A c.9588C>A (p.Leu3196=) c.9810C>A (p.Leu3270=) c.9564C>A (p.Leu3188=) c.4833C>A (p.Leu1611=) c.2583C>A (p.Leu861=) c.3546C>A (p.Leu1182=) | dbSNP |
1 | g.197090899A= | CA1217925717 | ASPM | n.2874T= c.9587T= (p.Leu3196=) c.9809T= (p.Leu3270=) c.9563T= (p.Leu3188=) c.4832T= (p.Leu1611=) c.2582T= (p.Leu861=) c.3545T= (p.Leu1182=) | |
1 | g.197090899A>C | CA344002515 | ASPM | n.2874T>G c.9587T>G (p.Leu3196Arg) c.9809T>G (p.Leu3270Arg) c.9563T>G (p.Leu3188Arg) c.4832T>G (p.Leu1611Arg) c.2582T>G (p.Leu861Arg) c.3545T>G (p.Leu1182Arg) | |
1 | g.197090899A>G | CA344002511 | ASPM | n.2874T>C c.9587T>C (p.Leu3196Pro) c.9809T>C (p.Leu3270Pro) c.9563T>C (p.Leu3188Pro) c.4832T>C (p.Leu1611Pro) c.2582T>C (p.Leu861Pro) c.3545T>C (p.Leu1182Pro) | dbSNP |
1 | g.197090899A>T | CA344002513 | ASPM | n.2874T>A c.9587T>A (p.Leu3196His) c.9809T>A (p.Leu3270His) c.9563T>A (p.Leu3188His) c.4832T>A (p.Leu1611His) c.2582T>A (p.Leu861His) c.3545T>A (p.Leu1182His) | |
1 | g.197090900G>A | CA344002518 | ASPM | n.2873C>T c.9586C>T (p.Leu3196Phe) c.9808C>T (p.Leu3270Phe) c.9562C>T (p.Leu3188Phe) c.4831C>T (p.Leu1611Phe) c.2581C>T (p.Leu861Phe) c.3544C>T (p.Leu1182Phe) | |
1 | g.197090900G>C | CA344002520 | ASPM | n.2873C>G c.9586C>G (p.Leu3196Val) c.9808C>G (p.Leu3270Val) c.9562C>G (p.Leu3188Val) c.4831C>G (p.Leu1611Val) c.2581C>G (p.Leu861Val) c.3544C>G (p.Leu1182Val) | |
1 | g.197090900G>T | CA344002523 | ASPM | n.2873C>A c.9586C>A (p.Leu3196Ile) c.9808C>A (p.Leu3270Ile) c.9562C>A (p.Leu3188Ile) c.4831C>A (p.Leu1611Ile) c.2581C>A (p.Leu861Ile) c.3544C>A (p.Leu1182Ile) | |
1 | g.197090901A>C | CA344002526 | ASPM | n.2872T>G c.9585T>G (p.Phe3195Leu) c.9807T>G (p.Phe3269Leu) c.9561T>G (p.Phe3187Leu) c.4830T>G (p.Phe1610Leu) c.2580T>G (p.Phe860Leu) c.3543T>G (p.Phe1181Leu) | |
1 | g.197090901A>G | CA422672421 | ASPM | n.2872T>C c.9585T>C (p.Phe3195=) c.9807T>C (p.Phe3269=) c.9561T>C (p.Phe3187=) c.4830T>C (p.Phe1610=) c.2580T>C (p.Phe860=) c.3543T>C (p.Phe1181=) | |
1 | g.197090901A>T | CA344002527 | ASPM | n.2872T>A c.9585T>A (p.Phe3195Leu) c.9807T>A (p.Phe3269Leu) c.9561T>A (p.Phe3187Leu) c.4830T>A (p.Phe1610Leu) c.2580T>A (p.Phe860Leu) c.3543T>A (p.Phe1181Leu) | |
1 | g.197090902A>C | CA344002532 | ASPM | n.2871T>G c.9584T>G (p.Phe3195Cys) c.9806T>G (p.Phe3269Cys) c.9560T>G (p.Phe3187Cys) c.4829T>G (p.Phe1610Cys) c.2579T>G (p.Phe860Cys) c.3542T>G (p.Phe1181Cys) | |
1 | g.197090902A>G | CA344002537 | ASPM | n.2871T>C c.9584T>C (p.Phe3195Ser) c.9806T>C (p.Phe3269Ser) c.9560T>C (p.Phe3187Ser) c.4829T>C (p.Phe1610Ser) c.2579T>C (p.Phe860Ser) c.3542T>C (p.Phe1181Ser) | |
1 | g.197090902A>T | CA344002535 | ASPM | n.2871T>A c.9584T>A (p.Phe3195Tyr) c.9806T>A (p.Phe3269Tyr) c.9560T>A (p.Phe3187Tyr) c.4829T>A (p.Phe1610Tyr) c.2579T>A (p.Phe860Tyr) c.3542T>A (p.Phe1181Tyr) | COSMIC |
1 | g.197090903A= | CA1217925718 | ASPM | n.2870T= c.9583T= (p.Phe3195=) c.9805T= (p.Phe3269=) c.9559T= (p.Phe3187=) c.4828T= (p.Phe1610=) c.2578T= (p.Phe860=) c.3541T= (p.Phe1181=) | |
1 | g.197090903A>C | CA344002540 | ASPM | n.2870T>G c.9583T>G (p.Phe3195Val) c.9805T>G (p.Phe3269Val) c.9559T>G (p.Phe3187Val) c.4828T>G (p.Phe1610Val) c.2578T>G (p.Phe860Val) c.3541T>G (p.Phe1181Val) | |
1 | g.197090903A>G | CA344002543 | ASPM | n.2870T>C c.9583T>C (p.Phe3195Leu) c.9805T>C (p.Phe3269Leu) c.9559T>C (p.Phe3187Leu) c.4828T>C (p.Phe1610Leu) c.2578T>C (p.Phe860Leu) c.3541T>C (p.Phe1181Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.197090903A>T | CA344002544 | ASPM | n.2870T>A c.9583T>A (p.Phe3195Ile) c.9805T>A (p.Phe3269Ile) c.9559T>A (p.Phe3187Ile) c.4828T>A (p.Phe1610Ile) c.2578T>A (p.Phe860Ile) c.3541T>A (p.Phe1181Ile) |