Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.101769968G>A | CA242462099 | GNPTAB | c.1284+53C>T (n.1284+53C>T) c.1203+53C>T (n.1203+53C>T) c.1068+53C>T (n.1068+53C>T) c.57+53C>T (n.57+53C>T) | dbSNP gnomAD v4 |
12 | g.101769968G= | CA2058957803 | GNPTAB | c.1284+53C= (n.1284+53C=) c.1203+53C= (n.1203+53C=) c.1068+53C= (n.1068+53C=) c.57+53C= (n.57+53C=) | |
12 | g.101769968G>T | CA2620451061 | GNPTAB | c.1284+53C>A (n.1284+53C>A) c.1203+53C>A (n.1203+53C>A) c.1068+53C>A (n.1068+53C>A) c.57+53C>A (n.57+53C>A) | gnomAD v4 |
12 | g.101769970T>C | CA2058957805 | GNPTAB | c.1284+51A>G (n.1284+51A>G) c.1203+51A>G (n.1203+51A>G) c.1068+51A>G (n.1068+51A>G) c.57+51A>G (n.57+51A>G) | dbSNP gnomAD v4 |
12 | g.101769970T= | CA2058957804 | GNPTAB | c.1284+51A= (n.1284+51A=) c.1203+51A= (n.1203+51A=) c.1068+51A= (n.1068+51A=) c.57+51A= (n.57+51A=) | |
12 | g.101769971T>C | CA6746663 | GNPTAB | c.1284+50A>G (n.1284+50A>G) c.1203+50A>G (n.1203+50A>G) c.1068+50A>G (n.1068+50A>G) c.57+50A>G (n.57+50A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769971T= | CA2058957806 | GNPTAB | c.1284+50A= (n.1284+50A=) c.1203+50A= (n.1203+50A=) c.1068+50A= (n.1068+50A=) c.57+50A= (n.57+50A=) | |
12 | g.101769973G>T | CA2575265051 | GNPTAB | c.1284+48C>A (n.1284+48C>A) c.1203+48C>A (n.1203+48C>A) c.1068+48C>A (n.1068+48C>A) c.57+48C>A (n.57+48C>A) | gnomAD v4 |
12 | g.101769976A>T | CA2575265052 | GNPTAB | c.1284+45T>A (n.1284+45T>A) c.1203+45T>A (n.1203+45T>A) c.1068+45T>A (n.1068+45T>A) c.57+45T>A (n.57+45T>A) | |
12 | g.101769977del | CA2575265053 | GNPTAB | c.1284+45del (n.1284+45del) c.1203+45del (n.1203+45del) c.1068+45del (n.1068+45del) c.57+45del (n.57+45del) | |
12 | g.101769978G>A | CA6746664 | GNPTAB | c.1284+43C>T (n.1284+43C>T) c.1203+43C>T (n.1203+43C>T) c.1068+43C>T (n.1068+43C>T) c.57+43C>T (n.57+43C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769978G= | CA2058957807 | GNPTAB | c.1284+43C= (n.1284+43C=) c.1203+43C= (n.1203+43C=) c.1068+43C= (n.1068+43C=) c.57+43C= (n.57+43C=) | |
12 | g.101769978G>T | CA2620451074 | GNPTAB | c.1284+43C>A (n.1284+43C>A) c.1203+43C>A (n.1203+43C>A) c.1068+43C>A (n.1068+43C>A) c.57+43C>A (n.57+43C>A) | gnomAD v4 |
12 | g.101769980G>A | CA2620451079 | GNPTAB | c.1284+41C>T (n.1284+41C>T) c.1203+41C>T (n.1203+41C>T) c.1068+41C>T (n.1068+41C>T) c.57+41C>T (n.57+41C>T) | gnomAD v4 |
12 | g.101769980G>T | CA2620451081 | GNPTAB | c.1284+41C>A (n.1284+41C>A) c.1203+41C>A (n.1203+41C>A) c.1068+41C>A (n.1068+41C>A) c.57+41C>A (n.57+41C>A) | gnomAD v4 |
12 | g.101769981A>G | CA2620451082 | GNPTAB | c.1284+40T>C (n.1284+40T>C) c.1203+40T>C (n.1203+40T>C) c.1068+40T>C (n.1068+40T>C) c.57+40T>C (n.57+40T>C) | gnomAD v4 |
12 | g.101769982C>A | CA6746665 | GNPTAB | c.1284+39G>T (n.1284+39G>T) c.1203+39G>T (n.1203+39G>T) c.1068+39G>T (n.1068+39G>T) c.57+39G>T (n.57+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769982C= | CA2058957808 | GNPTAB | c.1284+39G= (n.1284+39G=) c.1203+39G= (n.1203+39G=) c.1068+39G= (n.1068+39G=) c.57+39G= (n.57+39G=) | |
12 | g.101769982C>T | CA607597835 | GNPTAB | c.1284+39G>A (n.1284+39G>A) c.1203+39G>A (n.1203+39G>A) c.1068+39G>A (n.1068+39G>A) c.57+39G>A (n.57+39G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101769983T>C | CA242462111 | GNPTAB | c.1284+38A>G (n.1284+38A>G) c.1203+38A>G (n.1203+38A>G) c.1068+38A>G (n.1068+38A>G) c.57+38A>G (n.57+38A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101769983T= | CA2058957809 | GNPTAB | c.1284+38A= (n.1284+38A=) c.1203+38A= (n.1203+38A=) c.1068+38A= (n.1068+38A=) c.57+38A= (n.57+38A=) | |
12 | g.101769985C= | CA2058957810 | GNPTAB | c.1284+36G= (n.1284+36G=) c.1203+36G= (n.1203+36G=) c.1068+36G= (n.1068+36G=) c.57+36G= (n.57+36G=) | |
12 | g.101769985C>T | CA6746666 | GNPTAB | c.1284+36G>A (n.1284+36G>A) c.1203+36G>A (n.1203+36G>A) c.1068+36G>A (n.1068+36G>A) c.57+36G>A (n.57+36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769986del | CA2543929867 | GNPTAB | c.1284+36del (n.1284+36del) c.1203+36del (n.1203+36del) c.1068+36del (n.1068+36del) c.57+36del (n.57+36del) | |
12 | g.101769986C>A | CA2620451100 | GNPTAB | c.1284+35G>T (n.1284+35G>T) c.1203+35G>T (n.1203+35G>T) c.1068+35G>T (n.1068+35G>T) c.57+35G>T (n.57+35G>T) | gnomAD v4 |
12 | g.101769987_101769988del | CA2797214768 | GNPTAB | c.1284+34_1284+35del (n.1284+34_1284+35del) c.1203+34_1203+35del (n.1203+34_1203+35del) c.1068+34_1068+35del (n.1068+34_1068+35del) c.57+34_57+35del (n.57+34_57+35del) | |
12 | g.101769987A= | CA2058957811 | GNPTAB | c.1284+34T= (n.1284+34T=) c.1203+34T= (n.1203+34T=) c.1068+34T= (n.1068+34T=) c.57+34T= (n.57+34T=) | |
12 | g.101769987A>G | CA2058957812 | GNPTAB | c.1284+34T>C (n.1284+34T>C) c.1203+34T>C (n.1203+34T>C) c.1068+34T>C (n.1068+34T>C) c.57+34T>C (n.57+34T>C) | dbSNP gnomAD v4 |
12 | g.101769988C= | CA2058957813 | GNPTAB | c.1284+33G= (n.1284+33G=) c.1203+33G= (n.1203+33G=) c.1068+33G= (n.1068+33G=) c.57+33G= (n.57+33G=) | |
12 | g.101769988C>T | CA6746667 | GNPTAB | c.1284+33G>A (n.1284+33G>A) c.1203+33G>A (n.1203+33G>A) c.1068+33G>A (n.1068+33G>A) c.57+33G>A (n.57+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101769989G>A | CA6746668 | GNPTAB | c.1284+32C>T (n.1284+32C>T) c.1203+32C>T (n.1203+32C>T) c.1068+32C>T (n.1068+32C>T) c.57+32C>T (n.57+32C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101769989G= | CA2058957814 | GNPTAB | c.1284+32C= (n.1284+32C=) c.1203+32C= (n.1203+32C=) c.1068+32C= (n.1068+32C=) c.57+32C= (n.57+32C=) | |
12 | g.101769989G>T | CA6746669 | GNPTAB | c.1284+32C>A (n.1284+32C>A) c.1203+32C>A (n.1203+32C>A) c.1068+32C>A (n.1068+32C>A) c.57+32C>A (n.57+32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769990C= | CA2058957815 | GNPTAB | c.1284+31G= (n.1284+31G=) c.1203+31G= (n.1203+31G=) c.1068+31G= (n.1068+31G=) c.57+31G= (n.57+31G=) | |
12 | g.101769990C>T | CA6746670 | GNPTAB | c.1284+31G>A (n.1284+31G>A) c.1203+31G>A (n.1203+31G>A) c.1068+31G>A (n.1068+31G>A) c.57+31G>A (n.57+31G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101769991T>C | CA2727001013 | GNPTAB | c.1284+30A>G (n.1284+30A>G) c.1203+30A>G (n.1203+30A>G) c.1068+30A>G (n.1068+30A>G) c.57+30A>G (n.57+30A>G) | dbSNP |
12 | g.101769992A= | CA2058957817 | GNPTAB | c.1284+29T= (n.1284+29T=) c.1203+29T= (n.1203+29T=) c.1068+29T= (n.1068+29T=) c.57+29T= (n.57+29T=) | |
12 | g.101769992A>G | CA2058957816 | GNPTAB | c.1284+29T>C (n.1284+29T>C) c.1203+29T>C (n.1203+29T>C) c.1068+29T>C (n.1068+29T>C) c.57+29T>C (n.57+29T>C) | dbSNP gnomAD v4 |
12 | g.101769993G>A | CA6746671 | GNPTAB | c.1284+28C>T (n.1284+28C>T) c.1203+28C>T (n.1203+28C>T) c.1068+28C>T (n.1068+28C>T) c.57+28C>T (n.57+28C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101769993G= | CA2058957818 | GNPTAB | c.1284+28C= (n.1284+28C=) c.1203+28C= (n.1203+28C=) c.1068+28C= (n.1068+28C=) c.57+28C= (n.57+28C=) | |
12 | g.101769997A= | CA2058957820 | GNPTAB | c.1284+24T= (n.1284+24T=) c.1203+24T= (n.1203+24T=) c.1068+24T= (n.1068+24T=) c.57+24T= (n.57+24T=) | |
12 | g.101769997A>T | CA951152952 | GNPTAB | c.1284+24T>A (n.1284+24T>A) c.1203+24T>A (n.1203+24T>A) c.1068+24T>A (n.1068+24T>A) c.57+24T>A (n.57+24T>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101769997_101769998delinsAC | CA2058957819 | GNPTAB | c.1284+23_1284+24delinsGT (n.1284+23_1284+24delinsGT) c.1203+23_1203+24delinsGT (n.1203+23_1203+24delinsGT) c.1068+23_1068+24delinsGT (n.1068+23_1068+24delinsGT) c.57+23_57+24delinsGT (n.57+23_57+24delinsGT) | |
12 | g.101769998C>A | CA2726773394 | GNPTAB | c.1284+23G>T (n.1284+23G>T) c.1203+23G>T (n.1203+23G>T) c.1068+23G>T (n.1068+23G>T) c.57+23G>T (n.57+23G>T) | dbSNP |
12 | g.101769998C= | CA2058957821 | GNPTAB | c.1284+23G= (n.1284+23G=) c.1203+23G= (n.1203+23G=) c.1068+23G= (n.1068+23G=) c.57+23G= (n.57+23G=) | |
12 | g.101769998C>T | CA2058957822 | GNPTAB | c.1284+23G>A (n.1284+23G>A) c.1203+23G>A (n.1203+23G>A) c.1068+23G>A (n.1068+23G>A) c.57+23G>A (n.57+23G>A) | dbSNP |
12 | g.101770003dup | CA2620451122 | GNPTAB | c.1284+23dup (n.1284+23dup) c.1203+23dup (n.1203+23dup) c.1068+23dup (n.1068+23dup) c.57+23dup (n.57+23dup) | gnomAD v4 |
12 | g.101770003del | CA607597836 | GNPTAB | c.1284+23del (n.1284+23del) c.1203+23del (n.1203+23del) c.1068+23del (n.1068+23del) c.57+23del (n.57+23del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101769999C>A | CA2058957823 | GNPTAB | c.1284+22G>T (n.1284+22G>T) c.1203+22G>T (n.1203+22G>T) c.1068+22G>T (n.1068+22G>T) c.57+22G>T (n.57+22G>T) | dbSNP gnomAD v4 |
12 | g.101769999C= | CA2058957824 | GNPTAB | c.1284+22G= (n.1284+22G=) c.1203+22G= (n.1203+22G=) c.1068+22G= (n.1068+22G=) c.57+22G= (n.57+22G=) | |
12 | g.101770000C= | CA2058957825 | GNPTAB | c.1284+21G= (n.1284+21G=) c.1203+21G= (n.1203+21G=) c.1068+21G= (n.1068+21G=) c.57+21G= (n.57+21G=) | |
12 | g.101770000C>T | CA2058957826 | GNPTAB | c.1284+21G>A (n.1284+21G>A) c.1203+21G>A (n.1203+21G>A) c.1068+21G>A (n.1068+21G>A) c.57+21G>A (n.57+21G>A) | dbSNP gnomAD v4 |
12 | g.101770002C= | CA2058957827 | GNPTAB | c.1284+19G= (n.1284+19G=) c.1203+19G= (n.1203+19G=) c.1068+19G= (n.1068+19G=) c.57+19G= (n.57+19G=) | |
12 | g.101770002C>T | CA682730809 | GNPTAB | c.1284+19G>A (n.1284+19G>A) c.1203+19G>A (n.1203+19G>A) c.1068+19G>A (n.1068+19G>A) c.57+19G>A (n.57+19G>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770003C= | CA2058957828 | GNPTAB | c.1284+18G= (n.1284+18G=) c.1203+18G= (n.1203+18G=) c.1068+18G= (n.1068+18G=) c.57+18G= (n.57+18G=) | |
12 | g.101770003C>G | CA6746672 | GNPTAB | c.1284+18G>C (n.1284+18G>C) c.1203+18G>C (n.1203+18G>C) c.1068+18G>C (n.1068+18G>C) c.57+18G>C (n.57+18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770005C= | CA2058957829 | GNPTAB | c.1284+16G= (n.1284+16G=) c.1203+16G= (n.1203+16G=) c.1068+16G= (n.1068+16G=) c.57+16G= (n.57+16G=) | |
12 | g.101770005C>G | CA2058957830 | GNPTAB | c.1284+16G>C (n.1284+16G>C) c.1203+16G>C (n.1203+16G>C) c.1068+16G>C (n.1068+16G>C) c.57+16G>C (n.57+16G>C) | dbSNP |
12 | g.101770005C>T | CA607597837 | GNPTAB | c.1284+16G>A (n.1284+16G>A) c.1203+16G>A (n.1203+16G>A) c.1068+16G>A (n.1068+16G>A) c.57+16G>A (n.57+16G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770006dup | CA2575265054 | GNPTAB | c.1284+16dup (n.1284+16dup) c.1203+16dup (n.1203+16dup) c.1068+16dup (n.1068+16dup) c.57+16dup (n.57+16dup) | |
12 | g.101770008C>T | CA2620451147 | GNPTAB | c.1284+13G>A (n.1284+13G>A) c.1203+13G>A (n.1203+13G>A) c.1068+13G>A (n.1068+13G>A) c.57+13G>A (n.57+13G>A) | gnomAD v4 |
12 | g.101770009T>G | CA2058957832 | GNPTAB | c.1284+12A>C (n.1284+12A>C) c.1203+12A>C (n.1203+12A>C) c.1068+12A>C (n.1068+12A>C) c.57+12A>C (n.57+12A>C) | dbSNP |
12 | g.101770009T= | CA2058957831 | GNPTAB | c.1284+12A= (n.1284+12A=) c.1203+12A= (n.1203+12A=) c.1068+12A= (n.1068+12A=) c.57+12A= (n.57+12A=) | |
12 | g.101770010T= | CA2058957833 | GNPTAB | c.1284+11A= (n.1284+11A=) c.1203+11A= (n.1203+11A=) c.1068+11A= (n.1068+11A=) c.57+11A= (n.57+11A=) | |
12 | g.101770011dup | CA607597838 | GNPTAB | c.1284+10dup (n.1284+10dup) c.1203+10dup (n.1203+10dup) c.1068+10dup (n.1068+10dup) c.57+10dup (n.57+10dup) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770013del | CA2499221395 | GNPTAB | c.1284+9del (n.1284+9del) c.1203+9del (n.1203+9del) c.1068+9del (n.1068+9del) c.57+9del (n.57+9del) | ClinVar dbSNP |
12 | g.101770014C= | CA2058957834 | GNPTAB | c.1284+7G= (n.1284+7G=) c.1203+7G= (n.1203+7G=) c.1068+7G= (n.1068+7G=) c.57+7G= (n.57+7G=) | |
12 | g.101770014C>T | CA607597839 | GNPTAB | c.1284+7G>A (n.1284+7G>A) c.1203+7G>A (n.1203+7G>A) c.1068+7G>A (n.1068+7G>A) c.57+7G>A (n.57+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770015A>T | CA2620451159 | GNPTAB | c.1284+6T>A (n.1284+6T>A) c.1203+6T>A (n.1203+6T>A) c.1068+6T>A (n.1068+6T>A) c.57+6T>A (n.57+6T>A) | gnomAD v4 |
12 | g.101770016C>G | CA2727001145 | GNPTAB | c.1284+5G>C (n.1284+5G>C) c.1203+5G>C (n.1203+5G>C) c.1068+5G>C (n.1068+5G>C) c.57+5G>C (n.57+5G>C) | dbSNP |
12 | g.101770017T>C | CA242462179 | GNPTAB | c.1284+4A>G (n.1284+4A>G) c.1203+4A>G (n.1203+4A>G) c.1068+4A>G (n.1068+4A>G) c.57+4A>G (n.57+4A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770017T= | CA2058957835 | GNPTAB | c.1284+4A= (n.1284+4A=) c.1203+4A= (n.1203+4A=) c.1068+4A= (n.1068+4A=) c.57+4A= (n.57+4A=) | |
12 | g.101770018C>A | CA242462184 | GNPTAB | c.1284+3G>T (n.1284+3G>T) c.1203+3G>T (n.1203+3G>T) c.1068+3G>T (n.1068+3G>T) c.57+3G>T (n.57+3G>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770018C= | CA2058957836 | GNPTAB | c.1284+3G= (n.1284+3G=) c.1203+3G= (n.1203+3G=) c.1068+3G= (n.1068+3G=) c.57+3G= (n.57+3G=) | |
12 | g.101770018C>T | CA607597840 | GNPTAB | c.1284+3G>A (n.1284+3G>A) c.1203+3G>A (n.1203+3G>A) c.1068+3G>A (n.1068+3G>A) c.57+3G>A (n.57+3G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770019A>C | CA386302312 | GNPTAB | c.1284+2T>G (n.1284+2T>G) c.1203+2T>G (n.1203+2T>G) c.1068+2T>G (n.1068+2T>G) c.57+2T>G (n.57+2T>G) | |
12 | g.101770019A>G | CA386302314 | GNPTAB | c.1284+2T>C (n.1284+2T>C) c.1203+2T>C (n.1203+2T>C) c.1068+2T>C (n.1068+2T>C) c.57+2T>C (n.57+2T>C) | gnomAD v4 |
12 | g.101770019A>T | CA386302316 | GNPTAB | c.1284+2T>A (n.1284+2T>A) c.1203+2T>A (n.1203+2T>A) c.1068+2T>A (n.1068+2T>A) c.57+2T>A (n.57+2T>A) | |
12 | g.101770020C>A | CA386302320 | GNPTAB | c.1284+1G>T (n.1284+1G>T) c.1203+1G>T (n.1203+1G>T) c.1068+1G>T (n.1068+1G>T) c.57+1G>T (n.57+1G>T) | ClinVar dbSNP |
12 | g.101770020C= | CA2058957837 | GNPTAB | c.1284+1G= (n.1284+1G=) c.1203+1G= (n.1203+1G=) c.1068+1G= (n.1068+1G=) c.57+1G= (n.57+1G=) | |
12 | g.101770020C>G | CA386302318 | GNPTAB | c.1284+1G>C (n.1284+1G>C) c.1203+1G>C (n.1203+1G>C) c.1068+1G>C (n.1068+1G>C) c.57+1G>C (n.57+1G>C) | |
12 | g.101770020C>T | CA386302319 | GNPTAB | c.1284+1G>A (n.1284+1G>A) c.1203+1G>A (n.1203+1G>A) c.1068+1G>A (n.1068+1G>A) c.57+1G>A (n.57+1G>A) | ClinVar |
12 | g.101770021C>A | CA386302323 | GNPTAB | c.1284G>T (p.Lys428Asn) c.1203G>T (p.Lys401Asn) c.1068G>T (p.Lys356Asn) c.57G>T (p.Lys19Asn) | |
12 | g.101770021C= | CA2058957838 | GNPTAB | c.1284G= (p.Lys428=) c.1203G= (p.Lys401=) c.1068G= (p.Lys356=) c.57G= (p.Lys19=) | |
12 | g.101770021C>G | CA386302324 | GNPTAB | c.1284G>C (p.Lys428Asn) c.1203G>C (p.Lys401Asn) c.1068G>C (p.Lys356Asn) c.57G>C (p.Lys19Asn) | dbSNP gnomAD v2 |
12 | g.101770021C>T | CA481577824 | GNPTAB | c.1284G>A (p.Lys428=) c.1203G>A (p.Lys401=) c.1068G>A (p.Lys356=) c.57G>A (p.Lys19=) | |
12 | g.101770022T>A | CA386302325 | GNPTAB | c.1283A>T (p.Lys428Met) c.1202A>T (p.Lys401Met) c.1067A>T (p.Lys356Met) c.56A>T (p.Lys19Met) | |
12 | g.101770022T>C | CA6746673 | GNPTAB | c.1283A>G (p.Lys428Arg) c.1202A>G (p.Lys401Arg) c.1067A>G (p.Lys356Arg) c.56A>G (p.Lys19Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770022T>G | CA386302326 | GNPTAB | c.1283A>C (p.Lys428Thr) c.1202A>C (p.Lys401Thr) c.1067A>C (p.Lys356Thr) c.56A>C (p.Lys19Thr) | |
12 | g.101770022T= | CA2058957839 | GNPTAB | c.1283A= (p.Lys428=) c.1202A= (p.Lys401=) c.1067A= (p.Lys356=) c.56A= (p.Lys19=) | |
12 | g.101770023T>A | CA386302328 | GNPTAB | c.1282A>T (p.Lys428Ter) c.1201A>T (p.Lys401Ter) c.1066A>T (p.Lys356Ter) c.55A>T (p.Lys19Ter) | |
12 | g.101770023T>C | CA386302330 | GNPTAB | c.1282A>G (p.Lys428Glu) c.1201A>G (p.Lys401Glu) c.1066A>G (p.Lys356Glu) c.55A>G (p.Lys19Glu) | |
12 | g.101770023T>G | CA386302332 | GNPTAB | c.1282A>C (p.Lys428Gln) c.1201A>C (p.Lys401Gln) c.1066A>C (p.Lys356Gln) c.55A>C (p.Lys19Gln) | |
12 | g.101770024C>A | CA386302334 | GNPTAB | c.1281G>T (p.Gln427His) c.1200G>T (p.Gln400His) c.1065G>T (p.Gln355His) c.54G>T (p.Gln18His) | |
12 | g.101770024C>G | CA386302335 | GNPTAB | c.1281G>C (p.Gln427His) c.1200G>C (p.Gln400His) c.1065G>C (p.Gln355His) c.54G>C (p.Gln18His) | |
12 | g.101770024C>T | CA481577825 | GNPTAB | c.1281G>A (p.Gln427=) c.1200G>A (p.Gln400=) c.1065G>A (p.Gln355=) c.54G>A (p.Gln18=) | ClinVar dbSNP |
12 | g.101770025T>A | CA386302337 | GNPTAB | c.1280A>T (p.Gln427Leu) c.1199A>T (p.Gln400Leu) c.1064A>T (p.Gln355Leu) c.53A>T (p.Gln18Leu) | |
12 | g.101770025T>C | CA386302339 | GNPTAB | c.1280A>G (p.Gln427Arg) c.1199A>G (p.Gln400Arg) c.1064A>G (p.Gln355Arg) c.53A>G (p.Gln18Arg) | |
12 | g.101770025T>G | CA386302340 | GNPTAB | c.1280A>C (p.Gln427Pro) c.1199A>C (p.Gln400Pro) c.1064A>C (p.Gln355Pro) c.53A>C (p.Gln18Pro) | |
12 | g.101770026G>A | CA386302344 | GNPTAB | c.1279C>T (p.Gln427Ter) c.1198C>T (p.Gln400Ter) c.1063C>T (p.Gln355Ter) c.52C>T (p.Gln18Ter) | |
12 | g.101770026G>C | CA386302345 | GNPTAB | c.1279C>G (p.Gln427Glu) c.1198C>G (p.Gln400Glu) c.1063C>G (p.Gln355Glu) c.52C>G (p.Gln18Glu) | |
12 | g.101770026G>T | CA386302342 | GNPTAB | c.1279C>A (p.Gln427Lys) c.1198C>A (p.Gln400Lys) c.1063C>A (p.Gln355Lys) c.52C>A (p.Gln18Lys) | |
12 | g.101770027G>A | CA481577826 | GNPTAB | c.1278C>T (p.Gly426=) c.1197C>T (p.Gly399=) c.1062C>T (p.Gly354=) c.51C>T (p.Gly17=) | dbSNP gnomAD v2 |
12 | g.101770027G>C | CA481577827 | GNPTAB | c.1278C>G (p.Gly426=) c.1197C>G (p.Gly399=) c.1062C>G (p.Gly354=) c.51C>G (p.Gly17=) | |
12 | g.101770027G= | CA2058957840 | GNPTAB | c.1278C= (p.Gly426=) c.1197C= (p.Gly399=) c.1062C= (p.Gly354=) c.51C= (p.Gly17=) | |
12 | g.101770027G>T | CA481577828 | GNPTAB | c.1278C>A (p.Gly426=) c.1197C>A (p.Gly399=) c.1062C>A (p.Gly354=) c.51C>A (p.Gly17=) | |
12 | g.101770028C>A | CA386302347 | GNPTAB | c.1277G>T (p.Gly426Val) c.1196G>T (p.Gly399Val) c.1061G>T (p.Gly354Val) c.50G>T (p.Gly17Val) | dbSNP gnomAD v2 |
12 | g.101770028C= | CA2058957841 | GNPTAB | c.1277G= (p.Gly426=) c.1196G= (p.Gly399=) c.1061G= (p.Gly354=) c.50G= (p.Gly17=) | |
12 | g.101770028C>G | CA386302349 | GNPTAB | c.1277G>C (p.Gly426Ala) c.1196G>C (p.Gly399Ala) c.1061G>C (p.Gly354Ala) c.50G>C (p.Gly17Ala) | |
12 | g.101770028C>T | CA386302348 | GNPTAB | c.1277G>A (p.Gly426Asp) c.1196G>A (p.Gly399Asp) c.1061G>A (p.Gly354Asp) c.50G>A (p.Gly17Asp) | dbSNP gnomAD v4 |
12 | g.101770029C>A | CA386302351 | GNPTAB | c.1276G>T (p.Gly426Cys) c.1195G>T (p.Gly399Cys) c.1060G>T (p.Gly354Cys) c.49G>T (p.Gly17Cys) | |
12 | g.101770029C>G | CA386302354 | GNPTAB | c.1276G>C (p.Gly426Arg) c.1195G>C (p.Gly399Arg) c.1060G>C (p.Gly354Arg) c.49G>C (p.Gly17Arg) | |
12 | g.101770029C>T | CA386302352 | GNPTAB | c.1276G>A (p.Gly426Ser) c.1195G>A (p.Gly399Ser) c.1060G>A (p.Gly354Ser) c.49G>A (p.Gly17Ser) | gnomAD v4 |
12 | g.101770030T>A | CA386302355 | GNPTAB | c.1275A>T (p.Lys425Asn) c.1194A>T (p.Lys398Asn) c.1059A>T (p.Lys353Asn) c.48A>T (p.Lys16Asn) | |
12 | g.101770030T>C | CA481577829 | GNPTAB | c.1275A>G (p.Lys425=) c.1194A>G (p.Lys398=) c.1059A>G (p.Lys353=) c.48A>G (p.Lys16=) | |
12 | g.101770030T>G | CA386302361 | GNPTAB | c.1275A>C (p.Lys425Asn) c.1194A>C (p.Lys398Asn) c.1059A>C (p.Lys353Asn) c.48A>C (p.Lys16Asn) | |
12 | g.101770031T>A | CA386302363 | GNPTAB | c.1274A>T (p.Lys425Ile) c.1193A>T (p.Lys398Ile) c.1058A>T (p.Lys353Ile) c.47A>T (p.Lys16Ile) | |
12 | g.101770031T>C | CA386302364 | GNPTAB | c.1274A>G (p.Lys425Arg) c.1193A>G (p.Lys398Arg) c.1058A>G (p.Lys353Arg) c.47A>G (p.Lys16Arg) | |
12 | g.101770031T>G | CA386302366 | GNPTAB | c.1274A>C (p.Lys425Thr) c.1193A>C (p.Lys398Thr) c.1058A>C (p.Lys353Thr) c.47A>C (p.Lys16Thr) | |
12 | g.101770032T>A | CA386302367 | GNPTAB | c.1273A>T (p.Lys425Ter) c.1192A>T (p.Lys398Ter) c.1057A>T (p.Lys353Ter) c.46A>T (p.Lys16Ter) | |
12 | g.101770032T>C | CA386302368 | GNPTAB | c.1273A>G (p.Lys425Glu) c.1192A>G (p.Lys398Glu) c.1057A>G (p.Lys353Glu) c.46A>G (p.Lys16Glu) | |
12 | g.101770032T>G | CA386302369 | GNPTAB | c.1273A>C (p.Lys425Gln) c.1192A>C (p.Lys398Gln) c.1057A>C (p.Lys353Gln) c.46A>C (p.Lys16Gln) | |
12 | g.101770033G>A | CA6746674 | GNPTAB | c.1272C>T (p.Ser424=) c.1191C>T (p.Ser397=) c.1056C>T (p.Ser352=) c.45C>T (p.Ser15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.101770033G>C | CA481577830 | GNPTAB | c.1272C>G (p.Ser424=) c.1191C>G (p.Ser397=) c.1056C>G (p.Ser352=) c.45C>G (p.Ser15=) | |
12 | g.101770033G= | CA2058957842 | GNPTAB | c.1272C= (p.Ser424=) c.1191C= (p.Ser397=) c.1056C= (p.Ser352=) c.45C= (p.Ser15=) | |
12 | g.101770033G>T | CA481577831 | GNPTAB | c.1272C>A (p.Ser424=) c.1191C>A (p.Ser397=) c.1056C>A (p.Ser352=) c.45C>A (p.Ser15=) | |
12 | g.101770034G>A | CA386302370 | GNPTAB | c.1271C>T (p.Ser424Phe) c.1190C>T (p.Ser397Phe) c.1055C>T (p.Ser352Phe) c.44C>T (p.Ser15Phe) | gnomAD v4 |
12 | g.101770034G>C | CA386302371 | GNPTAB | c.1271C>G (p.Ser424Cys) c.1190C>G (p.Ser397Cys) c.1055C>G (p.Ser352Cys) c.44C>G (p.Ser15Cys) | gnomAD v4 |
12 | g.101770034G>T | CA386302373 | GNPTAB | c.1271C>A (p.Ser424Tyr) c.1190C>A (p.Ser397Tyr) c.1055C>A (p.Ser352Tyr) c.44C>A (p.Ser15Tyr) | |
12 | g.101770035A>C | CA386302376 | GNPTAB | c.1270T>G (p.Ser424Ala) c.1189T>G (p.Ser397Ala) c.1054T>G (p.Ser352Ala) c.43T>G (p.Ser15Ala) | |
12 | g.101770035A>G | CA386302375 | GNPTAB | c.1270T>C (p.Ser424Pro) c.1189T>C (p.Ser397Pro) c.1054T>C (p.Ser352Pro) c.43T>C (p.Ser15Pro) | |
12 | g.101770035A>T | CA386302374 | GNPTAB | c.1270T>A (p.Ser424Thr) c.1189T>A (p.Ser397Thr) c.1054T>A (p.Ser352Thr) c.43T>A (p.Ser15Thr) | |
12 | g.101770036G>A | CA6746675 | GNPTAB | c.1269C>T (p.His423=) c.1188C>T (p.His396=) c.1053C>T (p.His351=) c.42C>T (p.His14=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770036G>C | CA386302378 | GNPTAB | c.1269C>G (p.His423Gln) c.1188C>G (p.His396Gln) c.1053C>G (p.His351Gln) c.42C>G (p.His14Gln) | |
12 | g.101770036G= | CA2058957843 | GNPTAB | c.1269C= (p.His423=) c.1188C= (p.His396=) c.1053C= (p.His351=) c.42C= (p.His14=) | |
12 | g.101770036G>T | CA386302379 | GNPTAB | c.1269C>A (p.His423Gln) c.1188C>A (p.His396Gln) c.1053C>A (p.His351Gln) c.42C>A (p.His14Gln) | |
12 | g.101770037T>A | CA386302380 | GNPTAB | c.1268A>T (p.His423Leu) c.1187A>T (p.His396Leu) c.1052A>T (p.His351Leu) c.41A>T (p.His14Leu) | gnomAD v4 |
12 | g.101770037T>C | CA386302381 | GNPTAB | c.1268A>G (p.His423Arg) c.1187A>G (p.His396Arg) c.1052A>G (p.His351Arg) c.41A>G (p.His14Arg) | |
12 | g.101770037T>G | CA386302382 | GNPTAB | c.1268A>C (p.His423Pro) c.1187A>C (p.His396Pro) c.1052A>C (p.His351Pro) c.41A>C (p.His14Pro) | |
12 | g.101770038G>A | CA386302383 | GNPTAB | c.1267C>T (p.His423Tyr) c.1186C>T (p.His396Tyr) c.1051C>T (p.His351Tyr) c.40C>T (p.His14Tyr) | dbSNP gnomAD v4 |
12 | g.101770038G>C | CA386302384 | GNPTAB | c.1267C>G (p.His423Asp) c.1186C>G (p.His396Asp) c.1051C>G (p.His351Asp) c.40C>G (p.His14Asp) | |
12 | g.101770038G= | CA2058957844 | GNPTAB | c.1267C= (p.His423=) c.1186C= (p.His396=) c.1051C= (p.His351=) c.40C= (p.His14=) | |
12 | g.101770038G>T | CA386302385 | GNPTAB | c.1267C>A (p.His423Asn) c.1186C>A (p.His396Asn) c.1051C>A (p.His351Asn) c.40C>A (p.His14Asn) | dbSNP |
12 | g.101770039A= | CA2058957845 | GNPTAB | c.1266T= (p.Ser422=) c.1185T= (p.Ser395=) c.1050T= (p.Ser350=) c.39T= (p.Ser13=) | |
12 | g.101770039A>C | CA386302386 | GNPTAB | c.1266T>G (p.Ser422Arg) c.1185T>G (p.Ser395Arg) c.1050T>G (p.Ser350Arg) c.39T>G (p.Ser13Arg) | |
12 | g.101770039A>G | CA481577832 | GNPTAB | c.1266T>C (p.Ser422=) c.1185T>C (p.Ser395=) c.1050T>C (p.Ser350=) c.39T>C (p.Ser13=) | |
12 | g.101770039A>T | CA386302387 | GNPTAB | c.1266T>A (p.Ser422Arg) c.1185T>A (p.Ser395Arg) c.1050T>A (p.Ser350Arg) c.39T>A (p.Ser13Arg) | dbSNP |
12 | g.101770040C>A | CA386302391 | GNPTAB | c.1265G>T (p.Ser422Ile) c.1184G>T (p.Ser395Ile) c.1049G>T (p.Ser350Ile) c.38G>T (p.Ser13Ile) | |
12 | g.101770040C= | CA2058957846 | GNPTAB | c.1265G= (p.Ser422=) c.1184G= (p.Ser395=) c.1049G= (p.Ser350=) c.38G= (p.Ser13=) | |
12 | g.101770040C>G | CA386302392 | GNPTAB | c.1265G>C (p.Ser422Thr) c.1184G>C (p.Ser395Thr) c.1049G>C (p.Ser350Thr) c.38G>C (p.Ser13Thr) | |
12 | g.101770040C>T | CA386302390 | GNPTAB | c.1265G>A (p.Ser422Asn) c.1184G>A (p.Ser395Asn) c.1049G>A (p.Ser350Asn) c.38G>A (p.Ser13Asn) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770041T>A | CA386302393 | GNPTAB | c.1264A>T (p.Ser422Cys) c.1183A>T (p.Ser395Cys) c.1048A>T (p.Ser350Cys) c.37A>T (p.Ser13Cys) | |
12 | g.101770041T>C | CA386302395 | GNPTAB | c.1264A>G (p.Ser422Gly) c.1183A>G (p.Ser395Gly) c.1048A>G (p.Ser350Gly) c.37A>G (p.Ser13Gly) | gnomAD v4 |
12 | g.101770041T>G | CA386302397 | GNPTAB | c.1264A>C (p.Ser422Arg) c.1183A>C (p.Ser395Arg) c.1048A>C (p.Ser350Arg) c.37A>C (p.Ser13Arg) | |
12 | g.101770042G>A | CA6746676 | GNPTAB | c.1263C>T (p.Tyr421=) c.1182C>T (p.Tyr394=) c.1047C>T (p.Tyr349=) c.36C>T (p.Tyr12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770042G>C | CA386302399 | GNPTAB | c.1263C>G (p.Tyr421Ter) c.1182C>G (p.Tyr394Ter) c.1047C>G (p.Tyr349Ter) c.36C>G (p.Tyr12Ter) | |
12 | g.101770042G= | CA2058957847 | GNPTAB | c.1263C= (p.Tyr421=) c.1182C= (p.Tyr394=) c.1047C= (p.Tyr349=) c.36C= (p.Tyr12=) | |
12 | g.101770042G>T | CA386302400 | GNPTAB | c.1263C>A (p.Tyr421Ter) c.1182C>A (p.Tyr394Ter) c.1047C>A (p.Tyr349Ter) c.36C>A (p.Tyr12Ter) | |
12 | g.101770043T>A | CA386302402 | GNPTAB | c.1262A>T (p.Tyr421Phe) c.1181A>T (p.Tyr394Phe) c.1046A>T (p.Tyr349Phe) c.35A>T (p.Tyr12Phe) | |
12 | g.101770043T>C | CA386302403 | GNPTAB | c.1262A>G (p.Tyr421Cys) c.1181A>G (p.Tyr394Cys) c.1046A>G (p.Tyr349Cys) c.35A>G (p.Tyr12Cys) | dbSNP gnomAD v4 |
12 | g.101770043T>G | CA386302405 | GNPTAB | c.1262A>C (p.Tyr421Ser) c.1181A>C (p.Tyr394Ser) c.1046A>C (p.Tyr349Ser) c.35A>C (p.Tyr12Ser) | |
12 | g.101770043T= | CA2058957848 | GNPTAB | c.1262A= (p.Tyr421=) c.1181A= (p.Tyr394=) c.1046A= (p.Tyr349=) c.35A= (p.Tyr12=) | |
12 | g.101770044A>C | CA386302406 | GNPTAB | c.1261T>G (p.Tyr421Asp) c.1180T>G (p.Tyr394Asp) c.1045T>G (p.Tyr349Asp) c.34T>G (p.Tyr12Asp) | |
12 | g.101770044A>G | CA386302408 | GNPTAB | c.1261T>C (p.Tyr421His) c.1180T>C (p.Tyr394His) c.1045T>C (p.Tyr349His) c.34T>C (p.Tyr12His) | |
12 | g.101770044A>T | CA386302410 | GNPTAB | c.1261T>A (p.Tyr421Asn) c.1180T>A (p.Tyr394Asn) c.1045T>A (p.Tyr349Asn) c.34T>A (p.Tyr12Asn) | |
12 | g.101770048dup | CA607597841 | GNPTAB | c.1261dup (p.Tyr421LeufsTer28) c.1180dup (p.Tyr394LeufsTer28) c.1045dup (p.Tyr349LeufsTer28) c.34dup (p.Tyr12LeufsTer28) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770045A>C | CA386302413 | GNPTAB | c.1260T>G (p.Phe420Leu) c.1179T>G (p.Phe393Leu) c.1044T>G (p.Phe348Leu) c.33T>G (p.Phe11Leu) | |
12 | g.101770045A>G | CA481577833 | GNPTAB | c.1260T>C (p.Phe420=) c.1179T>C (p.Phe393=) c.1044T>C (p.Phe348=) c.33T>C (p.Phe11=) | |
12 | g.101770045A>T | CA386302412 | GNPTAB | c.1260T>A (p.Phe420Leu) c.1179T>A (p.Phe393Leu) c.1044T>A (p.Phe348Leu) c.33T>A (p.Phe11Leu) | |
12 | g.101770046A>C | CA386302415 | GNPTAB | c.1259T>G (p.Phe420Cys) c.1178T>G (p.Phe393Cys) c.1043T>G (p.Phe348Cys) c.32T>G (p.Phe11Cys) | |
12 | g.101770046A>G | CA386302416 | GNPTAB | c.1259T>C (p.Phe420Ser) c.1178T>C (p.Phe393Ser) c.1043T>C (p.Phe348Ser) c.32T>C (p.Phe11Ser) | |
12 | g.101770046A>T | CA386302418 | GNPTAB | c.1259T>A (p.Phe420Tyr) c.1178T>A (p.Phe393Tyr) c.1043T>A (p.Phe348Tyr) c.32T>A (p.Phe11Tyr) | |
12 | g.101770047A= | CA2058957849 | GNPTAB | c.1258T= (p.Phe420=) c.1177T= (p.Phe393=) c.1042T= (p.Phe348=) c.31T= (p.Phe11=) | |
12 | g.101770047A>C | CA242462201 | GNPTAB | c.1258T>G (p.Phe420Val) c.1177T>G (p.Phe393Val) c.1042T>G (p.Phe348Val) c.31T>G (p.Phe11Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770047A>G | CA386302420 | GNPTAB | c.1258T>C (p.Phe420Leu) c.1177T>C (p.Phe393Leu) c.1042T>C (p.Phe348Leu) c.31T>C (p.Phe11Leu) | |
12 | g.101770047A>T | CA386302422 | GNPTAB | c.1258T>A (p.Phe420Ile) c.1177T>A (p.Phe393Ile) c.1042T>A (p.Phe348Ile) c.31T>A (p.Phe11Ile) | gnomAD v4 |
12 | g.101770048A>C | CA386302423 | GNPTAB | c.1257T>G (p.Asp419Glu) c.1176T>G (p.Asp392Glu) c.1041T>G (p.Asp347Glu) c.30T>G (p.Asp10Glu) | |
12 | g.101770048A>G | CA481577834 | GNPTAB | c.1257T>C (p.Asp419=) c.1176T>C (p.Asp392=) c.1041T>C (p.Asp347=) c.30T>C (p.Asp10=) | ClinVar dbSNP |
12 | g.101770048A>T | CA386302425 | GNPTAB | c.1257T>A (p.Asp419Glu) c.1176T>A (p.Asp392Glu) c.1041T>A (p.Asp347Glu) c.30T>A (p.Asp10Glu) | |
12 | g.101770049T>A | CA386302426 | GNPTAB | c.1256A>T (p.Asp419Val) c.1175A>T (p.Asp392Val) c.1040A>T (p.Asp347Val) c.29A>T (p.Asp10Val) | |
12 | g.101770049T>C | CA386302427 | GNPTAB | c.1256A>G (p.Asp419Gly) c.1175A>G (p.Asp392Gly) c.1040A>G (p.Asp347Gly) c.29A>G (p.Asp10Gly) | |
12 | g.101770049T>G | CA386302429 | GNPTAB | c.1256A>C (p.Asp419Ala) c.1175A>C (p.Asp392Ala) c.1040A>C (p.Asp347Ala) c.29A>C (p.Asp10Ala) | |
12 | g.101770050C>A | CA386302431 | GNPTAB | c.1255G>T (p.Asp419Tyr) c.1174G>T (p.Asp392Tyr) c.1039G>T (p.Asp347Tyr) c.28G>T (p.Asp10Tyr) | gnomAD v4 |
12 | g.101770050C>G | CA386302433 | GNPTAB | c.1255G>C (p.Asp419His) c.1174G>C (p.Asp392His) c.1039G>C (p.Asp347His) c.28G>C (p.Asp10His) | |
12 | g.101770050C>T | CA386302434 | GNPTAB | c.1255G>A (p.Asp419Asn) c.1174G>A (p.Asp392Asn) c.1039G>A (p.Asp347Asn) c.28G>A (p.Asp10Asn) | |
12 | g.101770051A>C | CA386302437 | GNPTAB | c.1254T>G (p.Asp418Glu) c.1173T>G (p.Asp391Glu) c.1038T>G (p.Asp346Glu) c.27T>G (p.Asp9Glu) | |
12 | g.101770051A>G | CA481577835 | GNPTAB | c.1254T>C (p.Asp418=) c.1173T>C (p.Asp391=) c.1038T>C (p.Asp346=) c.27T>C (p.Asp9=) | |
12 | g.101770051A>T | CA386302435 | GNPTAB | c.1254T>A (p.Asp418Glu) c.1173T>A (p.Asp391Glu) c.1038T>A (p.Asp346Glu) c.27T>A (p.Asp9Glu) | |
12 | g.101770052T>A | CA386302439 | GNPTAB | c.1253A>T (p.Asp418Val) c.1172A>T (p.Asp391Val) c.1037A>T (p.Asp346Val) c.26A>T (p.Asp9Val) | gnomAD v4 |
12 | g.101770052T>C | CA242462206 | GNPTAB | c.1253A>G (p.Asp418Gly) c.1172A>G (p.Asp391Gly) c.1037A>G (p.Asp346Gly) c.26A>G (p.Asp9Gly) | dbSNP |
12 | g.101770052T>G | CA386302440 | GNPTAB | c.1253A>C (p.Asp418Ala) c.1172A>C (p.Asp391Ala) c.1037A>C (p.Asp346Ala) c.26A>C (p.Asp9Ala) | |
12 | g.101770052T= | CA2058957850 | GNPTAB | c.1253A= (p.Asp418=) c.1172A= (p.Asp391=) c.1037A= (p.Asp346=) c.26A= (p.Asp9=) | |
12 | g.101770053C>A | CA386302441 | GNPTAB | c.1252G>T (p.Asp418Tyr) c.1171G>T (p.Asp391Tyr) c.1036G>T (p.Asp346Tyr) c.25G>T (p.Asp9Tyr) | gnomAD v4 |
12 | g.101770053C= | CA2058957851 | GNPTAB | c.1252G= (p.Asp418=) c.1171G= (p.Asp391=) c.1036G= (p.Asp346=) c.25G= (p.Asp9=) | |
12 | g.101770053C>G | CA386302442 | GNPTAB | c.1252G>C (p.Asp418His) c.1171G>C (p.Asp391His) c.1036G>C (p.Asp346His) c.25G>C (p.Asp9His) | dbSNP |
12 | g.101770053C>T | CA386302443 | GNPTAB | c.1252G>A (p.Asp418Asn) c.1171G>A (p.Asp391Asn) c.1036G>A (p.Asp346Asn) c.25G>A (p.Asp9Asn) | ClinVar dbSNP |
12 | g.101770054T>A | CA481577836 | GNPTAB | c.1251A>T (p.Pro417=) c.1170A>T (p.Pro390=) c.1035A>T (p.Pro345=) c.24A>T (p.Pro8=) | |
12 | g.101770054T>C | CA481577837 | GNPTAB | c.1251A>G (p.Pro417=) c.1170A>G (p.Pro390=) c.1035A>G (p.Pro345=) c.24A>G (p.Pro8=) | |
12 | g.101770054T>G | CA481577838 | GNPTAB | c.1251A>C (p.Pro417=) c.1170A>C (p.Pro390=) c.1035A>C (p.Pro345=) c.24A>C (p.Pro8=) | |
12 | g.101770055G>A | CA386302444 | GNPTAB | c.1250C>T (p.Pro417Leu) c.1169C>T (p.Pro390Leu) c.1034C>T (p.Pro345Leu) c.23C>T (p.Pro8Leu) | |
12 | g.101770055G>C | CA386302446 | GNPTAB | c.1250C>G (p.Pro417Arg) c.1169C>G (p.Pro390Arg) c.1034C>G (p.Pro345Arg) c.23C>G (p.Pro8Arg) | |
12 | g.101770055G>T | CA386302447 | GNPTAB | c.1250C>A (p.Pro417Gln) c.1169C>A (p.Pro390Gln) c.1034C>A (p.Pro345Gln) c.23C>A (p.Pro8Gln) | COSMIC COSMIC |
12 | g.101770056G>A | CA386302448 | GNPTAB | c.1249C>T (p.Pro417Ser) c.1168C>T (p.Pro390Ser) c.1033C>T (p.Pro345Ser) c.22C>T (p.Pro8Ser) | gnomAD v4 |
12 | g.101770056G>C | CA386302450 | GNPTAB | c.1249C>G (p.Pro417Ala) c.1168C>G (p.Pro390Ala) c.1033C>G (p.Pro345Ala) c.22C>G (p.Pro8Ala) | |
12 | g.101770056G>T | CA386302451 | GNPTAB | c.1249C>A (p.Pro417Thr) c.1168C>A (p.Pro390Thr) c.1033C>A (p.Pro345Thr) c.22C>A (p.Pro8Thr) | |
12 | g.101770057C>A | CA386302452 | GNPTAB | c.1248G>T (p.Trp416Cys) c.1167G>T (p.Trp389Cys) c.1032G>T (p.Trp344Cys) c.21G>T (p.Trp7Cys) | |
12 | g.101770057C>G | CA386302453 | GNPTAB | c.1248G>C (p.Trp416Cys) c.1167G>C (p.Trp389Cys) c.1032G>C (p.Trp344Cys) c.21G>C (p.Trp7Cys) | |
12 | g.101770057C>T | CA386302454 | GNPTAB | c.1248G>A (p.Trp416Ter) c.1167G>A (p.Trp389Ter) c.1032G>A (p.Trp344Ter) c.21G>A (p.Trp7Ter) | |
12 | g.101770058C>A | CA386302458 | GNPTAB | c.1247G>T (p.Trp416Leu) c.1166G>T (p.Trp389Leu) c.1031G>T (p.Trp344Leu) c.20G>T (p.Trp7Leu) | |
12 | g.101770058C= | CA2058957852 | GNPTAB | c.1247G= (p.Trp416=) c.1166G= (p.Trp389=) c.1031G= (p.Trp344=) c.20G= (p.Trp7=) | |
12 | g.101770058C>G | CA386302455 | GNPTAB | c.1247G>C (p.Trp416Ser) c.1166G>C (p.Trp389Ser) c.1031G>C (p.Trp344Ser) c.20G>C (p.Trp7Ser) | |
12 | g.101770058C>T | CA386302457 | GNPTAB | c.1247G>A (p.Trp416Ter) c.1166G>A (p.Trp389Ter) c.1031G>A (p.Trp344Ter) c.20G>A (p.Trp7Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.101770059A>C | CA386302460 | GNPTAB | c.1246T>G (p.Trp416Gly) c.1165T>G (p.Trp389Gly) c.1030T>G (p.Trp344Gly) c.19T>G (p.Trp7Gly) | |
12 | g.101770059A>G | CA386302461 | GNPTAB | c.1246T>C (p.Trp416Arg) c.1165T>C (p.Trp389Arg) c.1030T>C (p.Trp344Arg) c.19T>C (p.Trp7Arg) | |
12 | g.101770059A>T | CA386302462 | GNPTAB | c.1246T>A (p.Trp416Arg) c.1165T>A (p.Trp389Arg) c.1030T>A (p.Trp344Arg) c.19T>A (p.Trp7Arg) | |
12 | g.101770059dup | CA2580085717 | GNPTAB | c.1246dup (p.Trp416LeufsTer4) c.1165dup (p.Trp389LeufsTer4) c.1030dup (p.Trp344LeufsTer4) c.19dup (p.Trp7LeufsTer4) | ClinVar |
12 | g.101770060G>A | CA481577841 | GNPTAB | c.1245C>T (p.Val415=) c.1164C>T (p.Val388=) c.1029C>T (p.Val343=) c.18C>T (p.Val6=) | |
12 | g.101770060G>C | CA481577840 | GNPTAB | c.1245C>G (p.Val415=) c.1164C>G (p.Val388=) c.1029C>G (p.Val343=) c.18C>G (p.Val6=) | |
12 | g.101770060G>T | CA481577839 | GNPTAB | c.1245C>A (p.Val415=) c.1164C>A (p.Val388=) c.1029C>A (p.Val343=) c.18C>A (p.Val6=) | |
12 | g.101770061A>C | CA386302464 | GNPTAB | c.1244T>G (p.Val415Gly) c.1163T>G (p.Val388Gly) c.1028T>G (p.Val343Gly) c.17T>G (p.Val6Gly) | |
12 | g.101770061A>G | CA386302465 | GNPTAB | c.1244T>C (p.Val415Ala) c.1163T>C (p.Val388Ala) c.1028T>C (p.Val343Ala) c.17T>C (p.Val6Ala) | gnomAD v4 |
12 | g.101770061A>T | CA386302466 | GNPTAB | c.1244T>A (p.Val415Asp) c.1163T>A (p.Val388Asp) c.1028T>A (p.Val343Asp) c.17T>A (p.Val6Asp) | |
12 | g.101770062C>A | CA386302469 | GNPTAB | c.1243G>T (p.Val415Phe) c.1162G>T (p.Val388Phe) c.1027G>T (p.Val343Phe) c.16G>T (p.Val6Phe) | |
12 | g.101770062C>G | CA386302470 | GNPTAB | c.1243G>C (p.Val415Leu) c.1162G>C (p.Val388Leu) c.1027G>C (p.Val343Leu) c.16G>C (p.Val6Leu) | |
12 | g.101770062C>T | CA386302471 | GNPTAB | c.1243G>A (p.Val415Ile) c.1162G>A (p.Val388Ile) c.1027G>A (p.Val343Ile) c.16G>A (p.Val6Ile) | |
12 | g.101770063A>C | CA386302473 | GNPTAB | c.1242T>G (p.Asp414Glu) c.1161T>G (p.Asp387Glu) c.1026T>G (p.Asp342Glu) c.15T>G (p.Asp5Glu) | |
12 | g.101770063A>G | CA481577842 | GNPTAB | c.1242T>C (p.Asp414=) c.1161T>C (p.Asp387=) c.1026T>C (p.Asp342=) c.15T>C (p.Asp5=) | |
12 | g.101770063A>T | CA386302474 | GNPTAB | c.1242T>A (p.Asp414Glu) c.1161T>A (p.Asp387Glu) c.1026T>A (p.Asp342Glu) c.15T>A (p.Asp5Glu) | |
12 | g.101770064T>A | CA386302478 | GNPTAB | c.1241A>T (p.Asp414Val) c.1160A>T (p.Asp387Val) c.1025A>T (p.Asp342Val) c.14A>T (p.Asp5Val) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.101770064T>C | CA386302477 | GNPTAB | c.1241A>G (p.Asp414Gly) c.1160A>G (p.Asp387Gly) c.1025A>G (p.Asp342Gly) c.14A>G (p.Asp5Gly) | gnomAD v4 |
12 | g.101770064T>G | CA6746677 | GNPTAB | c.1241A>C (p.Asp414Ala) c.1160A>C (p.Asp387Ala) c.1025A>C (p.Asp342Ala) c.14A>C (p.Asp5Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.101770064T= | CA2058957853 | GNPTAB | c.1241A= (p.Asp414=) c.1160A= (p.Asp387=) c.1025A= (p.Asp342=) c.14A= (p.Asp5=) | |
12 | g.101770065C>A | CA386302480 | GNPTAB | c.1240G>T (p.Asp414Tyr) c.1159G>T (p.Asp387Tyr) c.1024G>T (p.Asp342Tyr) c.13G>T (p.Asp5Tyr) | |
12 | g.101770065C>G | CA386302481 | GNPTAB | c.1240G>C (p.Asp414His) c.1159G>C (p.Asp387His) c.1024G>C (p.Asp342His) c.13G>C (p.Asp5His) | |
12 | g.101770065C>T | CA386302482 | GNPTAB | c.1240G>A (p.Asp414Asn) c.1159G>A (p.Asp387Asn) c.1024G>A (p.Asp342Asn) c.13G>A (p.Asp5Asn) | |
12 | g.101770066C>A | CA386302484 | GNPTAB | c.1239G>T (p.Lys413Asn) c.1158G>T (p.Lys386Asn) c.1023G>T (p.Lys341Asn) c.12G>T (p.Lys4Asn) | dbSNP |
12 | g.101770066C= | CA2058957854 | GNPTAB | c.1239G= (p.Lys413=) c.1158G= (p.Lys386=) c.1023G= (p.Lys341=) c.12G= (p.Lys4=) | |
12 | g.101770066C>G | CA386302485 | GNPTAB | c.1239G>C (p.Lys413Asn) c.1158G>C (p.Lys386Asn) c.1023G>C (p.Lys341Asn) c.12G>C (p.Lys4Asn) | |
12 | g.101770066C>T | CA481577843 | GNPTAB | c.1239G>A (p.Lys413=) c.1158G>A (p.Lys386=) c.1023G>A (p.Lys341=) c.12G>A (p.Lys4=) | ClinVar |
12 | g.101770067T>A | CA386302490 | GNPTAB | c.1238A>T (p.Lys413Met) c.1157A>T (p.Lys386Met) c.1022A>T (p.Lys341Met) c.11A>T (p.Lys4Met) | |
12 | g.101770067T>C | CA386302488 | GNPTAB | c.1238A>G (p.Lys413Arg) c.1157A>G (p.Lys386Arg) c.1022A>G (p.Lys341Arg) c.11A>G (p.Lys4Arg) | |
12 | g.101770067T>G | CA386302486 | GNPTAB | c.1238A>C (p.Lys413Thr) c.1157A>C (p.Lys386Thr) c.1022A>C (p.Lys341Thr) c.11A>C (p.Lys4Thr) | COSMIC COSMIC |
12 | g.101770068T>A | CA386302491 | GNPTAB | c.1237A>T (p.Lys413Ter) c.1156A>T (p.Lys386Ter) c.1021A>T (p.Lys341Ter) c.10A>T (p.Lys4Ter) | |
12 | g.101770068T>C | CA386302492 | GNPTAB | c.1237A>G (p.Lys413Glu) c.1156A>G (p.Lys386Glu) c.1021A>G (p.Lys341Glu) c.10A>G (p.Lys4Glu) | ClinVar |
12 | g.101770068T>G | CA386302493 | GNPTAB | c.1237A>C (p.Lys413Gln) c.1156A>C (p.Lys386Gln) c.1021A>C (p.Lys341Gln) c.10A>C (p.Lys4Gln) |