Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.43048132A>G | CA2678807668 | CUL7,KLC4 | n.13+16T>C c.2169+16T>C (n.2169+16T>C) n.2452+16T>C c.2265+16T>C (n.2265+16T>C) n.2468+16T>C c.118+16T>C n.2503+16T>C c.661+16T>C c.-553+4624A>G (n.-553+4624A>G) c.2421+16T>C (n.2421+16T>C) c.2325+16T>C (n.2325+16T>C) c.-14+16T>C (n.-14+16T>C) c.2448+16T>C (n.2448+16T>C) c.2352+16T>C (n.2352+16T>C) c.2292+16T>C (n.2292+16T>C) c.2196+16T>C (n.2196+16T>C) | gnomAD v4 |
6 | g.43048133G>A | CA2678807669 | CUL7,KLC4 | n.13+15C>T c.2169+15C>T (n.2169+15C>T) n.2452+15C>T c.2265+15C>T (n.2265+15C>T) n.2468+15C>T c.118+15C>T n.2503+15C>T c.661+15C>T c.-553+4625G>A (n.-553+4625G>A) c.2421+15C>T (n.2421+15C>T) c.2325+15C>T (n.2325+15C>T) c.-14+15C>T (n.-14+15C>T) c.2448+15C>T (n.2448+15C>T) c.2352+15C>T (n.2352+15C>T) c.2292+15C>T (n.2292+15C>T) c.2196+15C>T (n.2196+15C>T) | gnomAD v4 |
6 | g.43048133G>T | CA2678807670 | CUL7,KLC4 | n.13+15C>A c.2169+15C>A (n.2169+15C>A) n.2452+15C>A c.2265+15C>A (n.2265+15C>A) n.2468+15C>A c.118+15C>A n.2503+15C>A c.661+15C>A c.-553+4625G>T (n.-553+4625G>T) c.2421+15C>A (n.2421+15C>A) c.2325+15C>A (n.2325+15C>A) c.-14+15C>A (n.-14+15C>A) c.2448+15C>A (n.2448+15C>A) c.2352+15C>A (n.2352+15C>A) c.2292+15C>A (n.2292+15C>A) c.2196+15C>A (n.2196+15C>A) | gnomAD v4 |
6 | g.43048134C>A | CA2678807671 | CUL7,KLC4 | n.13+14G>T c.2169+14G>T (n.2169+14G>T) n.2452+14G>T c.2265+14G>T (n.2265+14G>T) n.2468+14G>T c.118+14G>T n.2503+14G>T c.661+14G>T c.-553+4626C>A (n.-553+4626C>A) c.2421+14G>T (n.2421+14G>T) c.2325+14G>T (n.2325+14G>T) c.-14+14G>T (n.-14+14G>T) c.2448+14G>T (n.2448+14G>T) c.2352+14G>T (n.2352+14G>T) c.2292+14G>T (n.2292+14G>T) c.2196+14G>T (n.2196+14G>T) | gnomAD v4 |
6 | g.43048134C= | CA1624357211 | CUL7,KLC4 | n.13+14G= c.2169+14G= (n.2169+14G=) n.2452+14G= c.2265+14G= (n.2265+14G=) n.2468+14G= c.118+14G= n.2503+14G= c.661+14G= c.-553+4626C= (n.-553+4626C=) c.2421+14G= (n.2421+14G=) c.2325+14G= (n.2325+14G=) c.-14+14G= (n.-14+14G=) c.2448+14G= (n.2448+14G=) c.2352+14G= (n.2352+14G=) c.2292+14G= (n.2292+14G=) c.2196+14G= (n.2196+14G=) | |
6 | g.43048134C>G | CA567150816 | CUL7,KLC4 | n.13+14G>C c.2169+14G>C (n.2169+14G>C) n.2452+14G>C c.2265+14G>C (n.2265+14G>C) n.2468+14G>C c.118+14G>C n.2503+14G>C c.661+14G>C c.-553+4626C>G (n.-553+4626C>G) c.2421+14G>C (n.2421+14G>C) c.2325+14G>C (n.2325+14G>C) c.-14+14G>C (n.-14+14G>C) c.2448+14G>C (n.2448+14G>C) c.2352+14G>C (n.2352+14G>C) c.2292+14G>C (n.2292+14G>C) c.2196+14G>C (n.2196+14G>C) | ClinVar dbSNP gnomAD v2 |
6 | g.43048134C>T | CA2678807672 | CUL7,KLC4 | n.13+14G>A c.2169+14G>A (n.2169+14G>A) n.2452+14G>A c.2265+14G>A (n.2265+14G>A) n.2468+14G>A c.118+14G>A n.2503+14G>A c.661+14G>A c.-553+4626C>T (n.-553+4626C>T) c.2421+14G>A (n.2421+14G>A) c.2325+14G>A (n.2325+14G>A) c.-14+14G>A (n.-14+14G>A) c.2448+14G>A (n.2448+14G>A) c.2352+14G>A (n.2352+14G>A) c.2292+14G>A (n.2292+14G>A) c.2196+14G>A (n.2196+14G>A) | gnomAD v4 |
6 | g.43048135A>G | CA2678807673 | CUL7,KLC4 | n.13+13T>C c.2169+13T>C (n.2169+13T>C) n.2452+13T>C c.2265+13T>C (n.2265+13T>C) n.2468+13T>C c.118+13T>C n.2503+13T>C c.661+13T>C c.-553+4627A>G (n.-553+4627A>G) c.2421+13T>C (n.2421+13T>C) c.2325+13T>C (n.2325+13T>C) c.-14+13T>C (n.-14+13T>C) c.2448+13T>C (n.2448+13T>C) c.2352+13T>C (n.2352+13T>C) c.2292+13T>C (n.2292+13T>C) c.2196+13T>C (n.2196+13T>C) | gnomAD v4 |
6 | g.43048136G>A | CA2678807674 | CUL7,KLC4 | n.13+12C>T c.2169+12C>T (n.2169+12C>T) n.2452+12C>T c.2265+12C>T (n.2265+12C>T) n.2468+12C>T c.118+12C>T n.2503+12C>T c.661+12C>T c.-553+4628G>A (n.-553+4628G>A) c.2421+12C>T (n.2421+12C>T) c.2325+12C>T (n.2325+12C>T) c.-14+12C>T (n.-14+12C>T) c.2448+12C>T (n.2448+12C>T) c.2352+12C>T (n.2352+12C>T) c.2292+12C>T (n.2292+12C>T) c.2196+12C>T (n.2196+12C>T) | gnomAD v4 |
6 | g.43048136G>T | CA2578622184 | CUL7,KLC4 | n.13+12C>A c.2169+12C>A (n.2169+12C>A) n.2452+12C>A c.2265+12C>A (n.2265+12C>A) n.2468+12C>A c.118+12C>A n.2503+12C>A c.661+12C>A c.-553+4628G>T (n.-553+4628G>T) c.2421+12C>A (n.2421+12C>A) c.2325+12C>A (n.2325+12C>A) c.-14+12C>A (n.-14+12C>A) c.2448+12C>A (n.2448+12C>A) c.2352+12C>A (n.2352+12C>A) c.2292+12C>A (n.2292+12C>A) c.2196+12C>A (n.2196+12C>A) | gnomAD v4 |
6 | g.43048137G>A | CA3813971 | CUL7,KLC4 | n.13+11C>T c.2169+11C>T (n.2169+11C>T) n.2452+11C>T c.2265+11C>T (n.2265+11C>T) n.2468+11C>T c.118+11C>T n.2503+11C>T c.661+11C>T c.-553+4629G>A (n.-553+4629G>A) c.2421+11C>T (n.2421+11C>T) c.2325+11C>T (n.2325+11C>T) c.-14+11C>T (n.-14+11C>T) c.2448+11C>T (n.2448+11C>T) c.2352+11C>T (n.2352+11C>T) c.2292+11C>T (n.2292+11C>T) c.2196+11C>T (n.2196+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048137G= | CA1624357212 | CUL7,KLC4 | n.13+11C= c.2169+11C= (n.2169+11C=) n.2452+11C= c.2265+11C= (n.2265+11C=) n.2468+11C= c.118+11C= n.2503+11C= c.661+11C= c.-553+4629G= (n.-553+4629G=) c.2421+11C= (n.2421+11C=) c.2325+11C= (n.2325+11C=) c.-14+11C= (n.-14+11C=) c.2448+11C= (n.2448+11C=) c.2352+11C= (n.2352+11C=) c.2292+11C= (n.2292+11C=) c.2196+11C= (n.2196+11C=) | |
6 | g.43048137G>T | CA2578622185 | CUL7,KLC4 | n.13+11C>A c.2169+11C>A (n.2169+11C>A) n.2452+11C>A c.2265+11C>A (n.2265+11C>A) n.2468+11C>A c.118+11C>A n.2503+11C>A c.661+11C>A c.-553+4629G>T (n.-553+4629G>T) c.2421+11C>A (n.2421+11C>A) c.2325+11C>A (n.2325+11C>A) c.-14+11C>A (n.-14+11C>A) c.2448+11C>A (n.2448+11C>A) c.2352+11C>A (n.2352+11C>A) c.2292+11C>A (n.2292+11C>A) c.2196+11C>A (n.2196+11C>A) | gnomAD v4 |
6 | g.43048138G>A | CA3813972 | CUL7,KLC4 | n.13+10C>T c.2169+10C>T (n.2169+10C>T) n.2452+10C>T c.2265+10C>T (n.2265+10C>T) n.2468+10C>T c.118+10C>T n.2503+10C>T c.661+10C>T c.-553+4630G>A (n.-553+4630G>A) c.2421+10C>T (n.2421+10C>T) c.2325+10C>T (n.2325+10C>T) c.-14+10C>T (n.-14+10C>T) c.2448+10C>T (n.2448+10C>T) c.2352+10C>T (n.2352+10C>T) c.2292+10C>T (n.2292+10C>T) c.2196+10C>T (n.2196+10C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048138G= | CA1624357213 | CUL7,KLC4 | n.13+10C= c.2169+10C= (n.2169+10C=) n.2452+10C= c.2265+10C= (n.2265+10C=) n.2468+10C= c.118+10C= n.2503+10C= c.661+10C= c.-553+4630G= (n.-553+4630G=) c.2421+10C= (n.2421+10C=) c.2325+10C= (n.2325+10C=) c.-14+10C= (n.-14+10C=) c.2448+10C= (n.2448+10C=) c.2352+10C= (n.2352+10C=) c.2292+10C= (n.2292+10C=) c.2196+10C= (n.2196+10C=) | |
6 | g.43048138G>T | CA2678807675 | CUL7,KLC4 | n.13+10C>A c.2169+10C>A (n.2169+10C>A) n.2452+10C>A c.2265+10C>A (n.2265+10C>A) n.2468+10C>A c.118+10C>A n.2503+10C>A c.661+10C>A c.-553+4630G>T (n.-553+4630G>T) c.2421+10C>A (n.2421+10C>A) c.2325+10C>A (n.2325+10C>A) c.-14+10C>A (n.-14+10C>A) c.2448+10C>A (n.2448+10C>A) c.2352+10C>A (n.2352+10C>A) c.2292+10C>A (n.2292+10C>A) c.2196+10C>A (n.2196+10C>A) | gnomAD v4 |
6 | g.43048139C>T | CA2678807677 | CUL7,KLC4 | n.13+9G>A c.2169+9G>A (n.2169+9G>A) n.2452+9G>A c.2265+9G>A (n.2265+9G>A) n.2468+9G>A c.118+9G>A n.2503+9G>A c.661+9G>A c.-553+4631C>T (n.-553+4631C>T) c.2421+9G>A (n.2421+9G>A) c.2325+9G>A (n.2325+9G>A) c.-14+9G>A (n.-14+9G>A) c.2448+9G>A (n.2448+9G>A) c.2352+9G>A (n.2352+9G>A) c.2292+9G>A (n.2292+9G>A) c.2196+9G>A (n.2196+9G>A) | gnomAD v4 |
6 | g.43048140A= | CA1624357214 | CUL7,KLC4 | n.13+8T= c.2169+8T= (n.2169+8T=) n.2452+8T= c.2265+8T= (n.2265+8T=) n.2468+8T= c.118+8T= n.2503+8T= c.661+8T= c.-553+4632A= (n.-553+4632A=) c.2421+8T= (n.2421+8T=) c.2325+8T= (n.2325+8T=) c.-14+8T= (n.-14+8T=) c.2448+8T= (n.2448+8T=) c.2352+8T= (n.2352+8T=) c.2292+8T= (n.2292+8T=) c.2196+8T= (n.2196+8T=) | |
6 | g.43048140A>G | CA1624357215 | CUL7,KLC4 | n.13+8T>C c.2169+8T>C (n.2169+8T>C) n.2452+8T>C c.2265+8T>C (n.2265+8T>C) n.2468+8T>C c.118+8T>C n.2503+8T>C c.661+8T>C c.-553+4632A>G (n.-553+4632A>G) c.2421+8T>C (n.2421+8T>C) c.2325+8T>C (n.2325+8T>C) c.-14+8T>C (n.-14+8T>C) c.2448+8T>C (n.2448+8T>C) c.2352+8T>C (n.2352+8T>C) c.2292+8T>C (n.2292+8T>C) c.2196+8T>C (n.2196+8T>C) | dbSNP gnomAD v4 |
6 | g.43048141G>T | CA2578622186 | CUL7,KLC4 | n.13+7C>A c.2169+7C>A (n.2169+7C>A) n.2452+7C>A c.2265+7C>A (n.2265+7C>A) n.2468+7C>A c.118+7C>A n.2503+7C>A c.661+7C>A c.-553+4633G>T (n.-553+4633G>T) c.2421+7C>A (n.2421+7C>A) c.2325+7C>A (n.2325+7C>A) c.-14+7C>A (n.-14+7C>A) c.2448+7C>A (n.2448+7C>A) c.2352+7C>A (n.2352+7C>A) c.2292+7C>A (n.2292+7C>A) c.2196+7C>A (n.2196+7C>A) | gnomAD v4 |
6 | g.43048144dup | CA2838792495 | CUL7,KLC4 | n.13+7dup c.2169+7dup (n.2169+7dup) n.2452+7dup c.2265+7dup (n.2265+7dup) n.2468+7dup c.118+7dup n.2503+7dup c.661+7dup c.-553+4636dup (n.-553+4636dup) c.2421+7dup (n.2421+7dup) c.2325+7dup (n.2325+7dup) c.-14+7dup (n.-14+7dup) c.2448+7dup (n.2448+7dup) c.2352+7dup (n.2352+7dup) c.2292+7dup (n.2292+7dup) c.2196+7dup (n.2196+7dup) | |
6 | g.43048142G>T | CA2678807679 | CUL7,KLC4 | n.13+6C>A c.2169+6C>A (n.2169+6C>A) n.2452+6C>A c.2265+6C>A (n.2265+6C>A) n.2468+6C>A c.118+6C>A n.2503+6C>A c.661+6C>A c.-553+4634G>T (n.-553+4634G>T) c.2421+6C>A (n.2421+6C>A) c.2325+6C>A (n.2325+6C>A) c.-14+6C>A (n.-14+6C>A) c.2448+6C>A (n.2448+6C>A) c.2352+6C>A (n.2352+6C>A) c.2292+6C>A (n.2292+6C>A) c.2196+6C>A (n.2196+6C>A) | gnomAD v4 |
6 | g.43048143G>A | CA10622133 | CUL7,KLC4 | n.13+5C>T c.2169+5C>T (n.2169+5C>T) n.2452+5C>T c.2265+5C>T (n.2265+5C>T) n.2468+5C>T c.118+5C>T n.2503+5C>T c.661+5C>T c.-553+4635G>A (n.-553+4635G>A) c.2421+5C>T (n.2421+5C>T) c.2325+5C>T (n.2325+5C>T) c.-14+5C>T (n.-14+5C>T) c.2448+5C>T (n.2448+5C>T) c.2352+5C>T (n.2352+5C>T) c.2292+5C>T (n.2292+5C>T) c.2196+5C>T (n.2196+5C>T) | ClinVar dbSNP |
6 | g.43048143G= | CA1624357216 | CUL7,KLC4 | n.13+5C= c.2169+5C= (n.2169+5C=) n.2452+5C= c.2265+5C= (n.2265+5C=) n.2468+5C= c.118+5C= n.2503+5C= c.661+5C= c.-553+4635G= (n.-553+4635G=) c.2421+5C= (n.2421+5C=) c.2325+5C= (n.2325+5C=) c.-14+5C= (n.-14+5C=) c.2448+5C= (n.2448+5C=) c.2352+5C= (n.2352+5C=) c.2292+5C= (n.2292+5C=) c.2196+5C= (n.2196+5C=) | |
6 | g.43048143G>T | CA567150859 | CUL7,KLC4 | n.13+5C>A c.2169+5C>A (n.2169+5C>A) n.2452+5C>A c.2265+5C>A (n.2265+5C>A) n.2468+5C>A c.118+5C>A n.2503+5C>A c.661+5C>A c.-553+4635G>T (n.-553+4635G>T) c.2421+5C>A (n.2421+5C>A) c.2325+5C>A (n.2325+5C>A) c.-14+5C>A (n.-14+5C>A) c.2448+5C>A (n.2448+5C>A) c.2352+5C>A (n.2352+5C>A) c.2292+5C>A (n.2292+5C>A) c.2196+5C>A (n.2196+5C>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048144G>A | CA567150860 | CUL7,KLC4 | n.13+4C>T c.2169+4C>T (n.2169+4C>T) n.2452+4C>T c.2265+4C>T (n.2265+4C>T) n.2468+4C>T c.118+4C>T n.2503+4C>T c.661+4C>T c.-553+4636G>A (n.-553+4636G>A) c.2421+4C>T (n.2421+4C>T) c.2325+4C>T (n.2325+4C>T) c.-14+4C>T (n.-14+4C>T) c.2448+4C>T (n.2448+4C>T) c.2352+4C>T (n.2352+4C>T) c.2292+4C>T (n.2292+4C>T) c.2196+4C>T (n.2196+4C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048144G= | CA1624357217 | CUL7,KLC4 | n.13+4C= c.2169+4C= (n.2169+4C=) n.2452+4C= c.2265+4C= (n.2265+4C=) n.2468+4C= c.118+4C= n.2503+4C= c.661+4C= c.-553+4636G= (n.-553+4636G=) c.2421+4C= (n.2421+4C=) c.2325+4C= (n.2325+4C=) c.-14+4C= (n.-14+4C=) c.2448+4C= (n.2448+4C=) c.2352+4C= (n.2352+4C=) c.2292+4C= (n.2292+4C=) c.2196+4C= (n.2196+4C=) | |
6 | g.43048144G>T | CA2518998829 | CUL7,KLC4 | n.13+4C>A c.2169+4C>A (n.2169+4C>A) n.2452+4C>A c.2265+4C>A (n.2265+4C>A) n.2468+4C>A c.118+4C>A n.2503+4C>A c.661+4C>A c.-553+4636G>T (n.-553+4636G>T) c.2421+4C>A (n.2421+4C>A) c.2325+4C>A (n.2325+4C>A) c.-14+4C>A (n.-14+4C>A) c.2448+4C>A (n.2448+4C>A) c.2352+4C>A (n.2352+4C>A) c.2292+4C>A (n.2292+4C>A) c.2196+4C>A (n.2196+4C>A) | gnomAD v4 |
6 | g.43048145T>C | CA2842672728 | CUL7,KLC4 | n.13+3A>G c.2169+3A>G (n.2169+3A>G) n.2452+3A>G c.2265+3A>G (n.2265+3A>G) n.2468+3A>G c.118+3A>G n.2503+3A>G c.661+3A>G c.-553+4637T>C (n.-553+4637T>C) c.2421+3A>G (n.2421+3A>G) c.2325+3A>G (n.2325+3A>G) c.-14+3A>G (n.-14+3A>G) c.2448+3A>G (n.2448+3A>G) c.2352+3A>G (n.2352+3A>G) c.2292+3A>G (n.2292+3A>G) c.2196+3A>G (n.2196+3A>G) | |
6 | g.43048145T>G | CA1624357218 | CUL7,KLC4 | n.13+3A>C c.2169+3A>C (n.2169+3A>C) n.2452+3A>C c.2265+3A>C (n.2265+3A>C) n.2468+3A>C c.118+3A>C n.2503+3A>C c.661+3A>C c.-553+4637T>G (n.-553+4637T>G) c.2421+3A>C (n.2421+3A>C) c.2325+3A>C (n.2325+3A>C) c.-14+3A>C (n.-14+3A>C) c.2448+3A>C (n.2448+3A>C) c.2352+3A>C (n.2352+3A>C) c.2292+3A>C (n.2292+3A>C) c.2196+3A>C (n.2196+3A>C) | dbSNP gnomAD v4 |
6 | g.43048145T= | CA1624357219 | CUL7,KLC4 | n.13+3A= c.2169+3A= (n.2169+3A=) n.2452+3A= c.2265+3A= (n.2265+3A=) n.2468+3A= c.118+3A= n.2503+3A= c.661+3A= c.-553+4637T= (n.-553+4637T=) c.2421+3A= (n.2421+3A=) c.2325+3A= (n.2325+3A=) c.-14+3A= (n.-14+3A=) c.2448+3A= (n.2448+3A=) c.2352+3A= (n.2352+3A=) c.2292+3A= (n.2292+3A=) c.2196+3A= (n.2196+3A=) | |
6 | g.43048146A>C | CA364218076 | CUL7,KLC4 | n.13+2T>G c.2169+2T>G (n.2169+2T>G) n.2452+2T>G c.2265+2T>G (n.2265+2T>G) n.2468+2T>G c.118+2T>G n.2503+2T>G c.661+2T>G c.-553+4638A>C (n.-553+4638A>C) c.2421+2T>G (n.2421+2T>G) c.2325+2T>G (n.2325+2T>G) c.-14+2T>G (n.-14+2T>G) c.2448+2T>G (n.2448+2T>G) c.2352+2T>G (n.2352+2T>G) c.2292+2T>G (n.2292+2T>G) c.2196+2T>G (n.2196+2T>G) | |
6 | g.43048146A>G | CA364218078 | CUL7,KLC4 | n.13+2T>C c.2169+2T>C (n.2169+2T>C) n.2452+2T>C c.2265+2T>C (n.2265+2T>C) n.2468+2T>C c.118+2T>C n.2503+2T>C c.661+2T>C c.-553+4638A>G (n.-553+4638A>G) c.2421+2T>C (n.2421+2T>C) c.2325+2T>C (n.2325+2T>C) c.-14+2T>C (n.-14+2T>C) c.2448+2T>C (n.2448+2T>C) c.2352+2T>C (n.2352+2T>C) c.2292+2T>C (n.2292+2T>C) c.2196+2T>C (n.2196+2T>C) | gnomAD v4 |
6 | g.43048146A>T | CA364218082 | CUL7,KLC4 | n.13+2T>A c.2169+2T>A (n.2169+2T>A) n.2452+2T>A c.2265+2T>A (n.2265+2T>A) n.2468+2T>A c.118+2T>A n.2503+2T>A c.661+2T>A c.-553+4638A>T (n.-553+4638A>T) c.2421+2T>A (n.2421+2T>A) c.2325+2T>A (n.2325+2T>A) c.-14+2T>A (n.-14+2T>A) c.2448+2T>A (n.2448+2T>A) c.2352+2T>A (n.2352+2T>A) c.2292+2T>A (n.2292+2T>A) c.2196+2T>A (n.2196+2T>A) | |
6 | g.43048147C>A | CA364218083 | CUL7,KLC4 | n.13+1G>T c.2169+1G>T (n.2169+1G>T) n.2452+1G>T c.2265+1G>T (n.2265+1G>T) n.2468+1G>T c.118+1G>T n.2503+1G>T c.661+1G>T c.-553+4639C>A (n.-553+4639C>A) c.2421+1G>T (n.2421+1G>T) c.2325+1G>T (n.2325+1G>T) c.-14+1G>T (n.-14+1G>T) c.2448+1G>T (n.2448+1G>T) c.2352+1G>T (n.2352+1G>T) c.2292+1G>T (n.2292+1G>T) c.2196+1G>T (n.2196+1G>T) | |
6 | g.43048147C>G | CA364218085 | CUL7,KLC4 | n.13+1G>C c.2169+1G>C (n.2169+1G>C) n.2452+1G>C c.2265+1G>C (n.2265+1G>C) n.2468+1G>C c.118+1G>C n.2503+1G>C c.661+1G>C c.-553+4639C>G (n.-553+4639C>G) c.2421+1G>C (n.2421+1G>C) c.2325+1G>C (n.2325+1G>C) c.-14+1G>C (n.-14+1G>C) c.2448+1G>C (n.2448+1G>C) c.2352+1G>C (n.2352+1G>C) c.2292+1G>C (n.2292+1G>C) c.2196+1G>C (n.2196+1G>C) | |
6 | g.43048147C>T | CA364218088 | CUL7,KLC4 | n.13+1G>A c.2169+1G>A (n.2169+1G>A) n.2452+1G>A c.2265+1G>A (n.2265+1G>A) n.2468+1G>A c.118+1G>A n.2503+1G>A c.661+1G>A c.-553+4639C>T (n.-553+4639C>T) c.2421+1G>A (n.2421+1G>A) c.2325+1G>A (n.2325+1G>A) c.-14+1G>A (n.-14+1G>A) c.2448+1G>A (n.2448+1G>A) c.2352+1G>A (n.2352+1G>A) c.2292+1G>A (n.2292+1G>A) c.2196+1G>A (n.2196+1G>A) | |
6 | g.43048148C>A | CA364218095 | CUL7,KLC4 | n.13G>T c.2169G>T (p.Glu723Asp) n.2452G>T c.2265G>T (p.Glu755Asp) n.2468G>T c.118G>T n.2503G>T c.661G>T c.-553+4640C>A (n.-553+4640C>A) c.2421G>T (p.Glu807Asp) c.2325G>T (p.Glu775Asp) c.-14G>T (n.-14G>T) c.2448G>T (p.Glu816Asp) c.2352G>T (p.Glu784Asp) c.2292G>T (p.Glu764Asp) c.2196G>T (p.Glu732Asp) | |
6 | g.43048148C= | CA1624357220 | CUL7,KLC4 | n.13G= c.2169G= (p.Glu723=) n.2452G= c.2265G= (p.Glu755=) n.2468G= c.118G= n.2503G= c.661G= c.-553+4640C= (n.-553+4640C=) c.2421G= (p.Glu807=) c.2325G= (p.Glu775=) c.-14G= (n.-14G=) c.2448G= (p.Glu816=) c.2352G= (p.Glu784=) c.2292G= (p.Glu764=) c.2196G= (p.Glu732=) | |
6 | g.43048148C>G | CA364218093 | CUL7,KLC4 | n.13G>C c.2169G>C (p.Glu723Asp) n.2452G>C c.2265G>C (p.Glu755Asp) n.2468G>C c.118G>C n.2503G>C c.661G>C c.-553+4640C>G (n.-553+4640C>G) c.2421G>C (p.Glu807Asp) c.2325G>C (p.Glu775Asp) c.-14G>C (n.-14G>C) c.2448G>C (p.Glu816Asp) c.2352G>C (p.Glu784Asp) c.2292G>C (p.Glu764Asp) c.2196G>C (p.Glu732Asp) | |
6 | g.43048148C>T | CA450261499 | CUL7,KLC4 | n.13G>A c.2169G>A (p.Glu723=) n.2452G>A c.2265G>A (p.Glu755=) n.2468G>A c.118G>A n.2503G>A c.661G>A c.-553+4640C>T (n.-553+4640C>T) c.2421G>A (p.Glu807=) c.2325G>A (p.Glu775=) c.-14G>A (n.-14G>A) c.2448G>A (p.Glu816=) c.2352G>A (p.Glu784=) c.2292G>A (p.Glu764=) c.2196G>A (p.Glu732=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048149T>A | CA364218098 | CUL7,KLC4 | n.12A>T c.2168A>T (p.Glu723Val) n.2451A>T c.2264A>T (p.Glu755Val) n.2467A>T c.117A>T n.2502A>T c.660A>T c.-553+4641T>A (n.-553+4641T>A) c.2420A>T (p.Glu807Val) c.2324A>T (p.Glu775Val) c.-15A>T (n.-15A>T) c.2447A>T (p.Glu816Val) c.2351A>T (p.Glu784Val) c.2291A>T (p.Glu764Val) c.2195A>T (p.Glu732Val) | |
6 | g.43048149T>C | CA364218100 | CUL7,KLC4 | n.12A>G c.2168A>G (p.Glu723Gly) n.2451A>G c.2264A>G (p.Glu755Gly) n.2467A>G c.117A>G n.2502A>G c.660A>G c.-553+4641T>C (n.-553+4641T>C) c.2420A>G (p.Glu807Gly) c.2324A>G (p.Glu775Gly) c.-15A>G (n.-15A>G) c.2447A>G (p.Glu816Gly) c.2351A>G (p.Glu784Gly) c.2291A>G (p.Glu764Gly) c.2195A>G (p.Glu732Gly) | gnomAD v4 |
6 | g.43048149T>G | CA364218102 | CUL7,KLC4 | n.12A>C c.2168A>C (p.Glu723Ala) n.2451A>C c.2264A>C (p.Glu755Ala) n.2467A>C c.117A>C n.2502A>C c.660A>C c.-553+4641T>G (n.-553+4641T>G) c.2420A>C (p.Glu807Ala) c.2324A>C (p.Glu775Ala) c.-15A>C (n.-15A>C) c.2447A>C (p.Glu816Ala) c.2351A>C (p.Glu784Ala) c.2291A>C (p.Glu764Ala) c.2195A>C (p.Glu732Ala) | |
6 | g.43048150C>A | CA364218106 | CUL7,KLC4 | n.11G>T c.2167G>T (p.Glu723Ter) n.2450G>T c.2263G>T (p.Glu755Ter) n.2466G>T c.116G>T n.2501G>T c.659G>T c.-553+4642C>A (n.-553+4642C>A) c.2419G>T (p.Glu807Ter) c.2323G>T (p.Glu775Ter) c.-16G>T (n.-16G>T) c.2446G>T (p.Glu816Ter) c.2350G>T (p.Glu784Ter) c.2290G>T (p.Glu764Ter) c.2194G>T (p.Glu732Ter) | |
6 | g.43048150C>G | CA364218109 | CUL7,KLC4 | n.11G>C c.2167G>C (p.Glu723Gln) n.2450G>C c.2263G>C (p.Glu755Gln) n.2466G>C c.116G>C n.2501G>C c.659G>C c.-553+4642C>G (n.-553+4642C>G) c.2419G>C (p.Glu807Gln) c.2323G>C (p.Glu775Gln) c.-16G>C (n.-16G>C) c.2446G>C (p.Glu816Gln) c.2350G>C (p.Glu784Gln) c.2290G>C (p.Glu764Gln) c.2194G>C (p.Glu732Gln) | |
6 | g.43048150C>T | CA364218113 | CUL7,KLC4 | n.11G>A c.2167G>A (p.Glu723Lys) n.2450G>A c.2263G>A (p.Glu755Lys) n.2466G>A c.116G>A n.2501G>A c.659G>A c.-553+4642C>T (n.-553+4642C>T) c.2419G>A (p.Glu807Lys) c.2323G>A (p.Glu775Lys) c.-16G>A (n.-16G>A) c.2446G>A (p.Glu816Lys) c.2350G>A (p.Glu784Lys) c.2290G>A (p.Glu764Lys) c.2194G>A (p.Glu732Lys) | gnomAD v4 |
6 | g.43048151T>A | CA450261500 | CUL7,KLC4 | n.10A>T c.2166A>T (p.Arg722=) n.2449A>T c.2262A>T (p.Arg754=) n.2465A>T c.115A>T n.2500A>T c.658A>T c.-553+4643T>A (n.-553+4643T>A) c.2418A>T (p.Arg806=) c.2322A>T (p.Arg774=) c.-17A>T (n.-17A>T) c.2445A>T (p.Arg815=) c.2349A>T (p.Arg783=) c.2289A>T (p.Arg763=) c.2193A>T (p.Arg731=) | |
6 | g.43048151T>C | CA450261501 | CUL7,KLC4 | n.10A>G c.2166A>G (p.Arg722=) n.2449A>G c.2262A>G (p.Arg754=) n.2465A>G c.115A>G n.2500A>G c.658A>G c.-553+4643T>C (n.-553+4643T>C) c.2418A>G (p.Arg806=) c.2322A>G (p.Arg774=) c.-17A>G (n.-17A>G) c.2445A>G (p.Arg815=) c.2349A>G (p.Arg783=) c.2289A>G (p.Arg763=) c.2193A>G (p.Arg731=) | |
6 | g.43048151T>G | CA450261502 | CUL7,KLC4 | n.10A>C c.2166A>C (p.Arg722=) n.2449A>C c.2262A>C (p.Arg754=) n.2465A>C c.115A>C n.2500A>C c.658A>C c.-553+4643T>G (n.-553+4643T>G) c.2418A>C (p.Arg806=) c.2322A>C (p.Arg774=) c.-17A>C (n.-17A>C) c.2445A>C (p.Arg815=) c.2349A>C (p.Arg783=) c.2289A>C (p.Arg763=) c.2193A>C (p.Arg731=) | |
6 | g.43048152C>A | CA364218119 | CUL7,KLC4 | n.9G>T c.2165G>T (p.Arg722Leu) n.2448G>T c.2261G>T (p.Arg754Leu) n.2464G>T c.114G>T n.2499G>T c.657G>T c.-553+4644C>A (n.-553+4644C>A) c.2417G>T (p.Arg806Leu) c.2321G>T (p.Arg774Leu) c.-18G>T (n.-18G>T) c.2444G>T (p.Arg815Leu) c.2348G>T (p.Arg783Leu) c.2288G>T (p.Arg763Leu) c.2192G>T (p.Arg731Leu) | |
6 | g.43048152C= | CA1624357221 | CUL7,KLC4 | n.9G= c.2165G= (p.Arg722=) n.2448G= c.2261G= (p.Arg754=) n.2464G= c.114G= n.2499G= c.657G= c.-553+4644C= (n.-553+4644C=) c.2417G= (p.Arg806=) c.2321G= (p.Arg774=) c.-18G= (n.-18G=) c.2444G= (p.Arg815=) c.2348G= (p.Arg783=) c.2288G= (p.Arg763=) c.2192G= (p.Arg731=) | |
6 | g.43048152C>G | CA364218115 | CUL7,KLC4 | n.9G>C c.2165G>C (p.Arg722Pro) n.2448G>C c.2261G>C (p.Arg754Pro) n.2464G>C c.114G>C n.2499G>C c.657G>C c.-553+4644C>G (n.-553+4644C>G) c.2417G>C (p.Arg806Pro) c.2321G>C (p.Arg774Pro) c.-18G>C (n.-18G>C) c.2444G>C (p.Arg815Pro) c.2348G>C (p.Arg783Pro) c.2288G>C (p.Arg763Pro) c.2192G>C (p.Arg731Pro) | |
6 | g.43048152C>T | CA138249088 | CUL7,KLC4 | n.9G>A c.2165G>A (p.Arg722Gln) n.2448G>A c.2261G>A (p.Arg754Gln) n.2464G>A c.114G>A n.2499G>A c.657G>A c.-553+4644C>T (n.-553+4644C>T) c.2417G>A (p.Arg806Gln) c.2321G>A (p.Arg774Gln) c.-18G>A (n.-18G>A) c.2444G>A (p.Arg815Gln) c.2348G>A (p.Arg783Gln) c.2288G>A (p.Arg763Gln) c.2192G>A (p.Arg731Gln) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048153G>A | CA10604142 | CUL7,KLC4 | n.8C>T c.2164C>T (p.Arg722Ter) n.2447C>T c.2260C>T (p.Arg754Ter) n.2463C>T c.113C>T n.2498C>T c.656C>T c.-553+4645G>A (n.-553+4645G>A) c.2416C>T (p.Arg806Ter) c.2320C>T (p.Arg774Ter) c.-19C>T (n.-19C>T) c.2443C>T (p.Arg815Ter) c.2347C>T (p.Arg783Ter) c.2287C>T (p.Arg763Ter) c.2191C>T (p.Arg731Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048153G>C | CA364218123 | CUL7,KLC4 | n.8C>G c.2164C>G (p.Arg722Gly) n.2447C>G c.2260C>G (p.Arg754Gly) n.2463C>G c.113C>G n.2498C>G c.656C>G c.-553+4645G>C (n.-553+4645G>C) c.2416C>G (p.Arg806Gly) c.2320C>G (p.Arg774Gly) c.-19C>G (n.-19C>G) c.2443C>G (p.Arg815Gly) c.2347C>G (p.Arg783Gly) c.2287C>G (p.Arg763Gly) c.2191C>G (p.Arg731Gly) | |
6 | g.43048153G= | CA1624357222 | CUL7,KLC4 | n.8C= c.2164C= (p.Arg722=) n.2447C= c.2260C= (p.Arg754=) n.2463C= c.113C= n.2498C= c.656C= c.-553+4645G= (n.-553+4645G=) c.2416C= (p.Arg806=) c.2320C= (p.Arg774=) c.-19C= (n.-19C=) c.2443C= (p.Arg815=) c.2347C= (p.Arg783=) c.2287C= (p.Arg763=) c.2191C= (p.Arg731=) | |
6 | g.43048153G>T | CA450261506 | CUL7,KLC4 | n.8C>A c.2164C>A (p.Arg722=) n.2447C>A c.2260C>A (p.Arg754=) n.2463C>A c.113C>A n.2498C>A c.656C>A c.-553+4645G>T (n.-553+4645G>T) c.2416C>A (p.Arg806=) c.2320C>A (p.Arg774=) c.-19C>A (n.-19C>A) c.2443C>A (p.Arg815=) c.2347C>A (p.Arg783=) c.2287C>A (p.Arg763=) c.2191C>A (p.Arg731=) | gnomAD v4 |
6 | g.43048154A= | CA1624357223 | CUL7,KLC4 | n.7T= c.2163T= (p.Asp721=) n.2446T= c.2259T= (p.Asp753=) n.2462T= c.112T= n.2497T= c.655T= c.-553+4646A= (n.-553+4646A=) c.2415T= (p.Asp805=) c.2319T= (p.Asp773=) c.-20T= (n.-20T=) c.2442T= (p.Asp814=) c.2346T= (p.Asp782=) c.2286T= (p.Asp762=) c.2190T= (p.Asp730=) | |
6 | g.43048154A>C | CA364218126 | CUL7,KLC4 | n.7T>G c.2163T>G (p.Asp721Glu) n.2446T>G c.2259T>G (p.Asp753Glu) n.2462T>G c.112T>G n.2497T>G c.655T>G c.-553+4646A>C (n.-553+4646A>C) c.2415T>G (p.Asp805Glu) c.2319T>G (p.Asp773Glu) c.-20T>G (n.-20T>G) c.2442T>G (p.Asp814Glu) c.2346T>G (p.Asp782Glu) c.2286T>G (p.Asp762Glu) c.2190T>G (p.Asp730Glu) | |
6 | g.43048154A>G | CA3813973 | CUL7,KLC4 | n.7T>C c.2163T>C (p.Asp721=) n.2446T>C c.2259T>C (p.Asp753=) n.2462T>C c.112T>C n.2497T>C c.655T>C c.-553+4646A>G (n.-553+4646A>G) c.2415T>C (p.Asp805=) c.2319T>C (p.Asp773=) c.-20T>C (n.-20T>C) c.2442T>C (p.Asp814=) c.2346T>C (p.Asp782=) c.2286T>C (p.Asp762=) c.2190T>C (p.Asp730=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048154A>T | CA364218131 | CUL7,KLC4 | n.7T>A c.2163T>A (p.Asp721Glu) n.2446T>A c.2259T>A (p.Asp753Glu) n.2462T>A c.112T>A n.2497T>A c.655T>A c.-553+4646A>T (n.-553+4646A>T) c.2415T>A (p.Asp805Glu) c.2319T>A (p.Asp773Glu) c.-20T>A (n.-20T>A) c.2442T>A (p.Asp814Glu) c.2346T>A (p.Asp782Glu) c.2286T>A (p.Asp762Glu) c.2190T>A (p.Asp730Glu) | gnomAD v4 |
6 | g.43048155T>A | CA364218135 | CUL7,KLC4 | n.6A>T c.2162A>T (p.Asp721Val) n.2445A>T c.2258A>T (p.Asp753Val) n.2461A>T c.111A>T n.2496A>T c.654A>T c.-553+4647T>A (n.-553+4647T>A) c.2414A>T (p.Asp805Val) c.2318A>T (p.Asp773Val) c.-21A>T (n.-21A>T) c.2441A>T (p.Asp814Val) c.2345A>T (p.Asp782Val) c.2285A>T (p.Asp762Val) c.2189A>T (p.Asp730Val) | |
6 | g.43048155T>C | CA364218139 | CUL7,KLC4 | n.6A>G c.2162A>G (p.Asp721Gly) n.2445A>G c.2258A>G (p.Asp753Gly) n.2461A>G c.111A>G n.2496A>G c.654A>G c.-553+4647T>C (n.-553+4647T>C) c.2414A>G (p.Asp805Gly) c.2318A>G (p.Asp773Gly) c.-21A>G (n.-21A>G) c.2441A>G (p.Asp814Gly) c.2345A>G (p.Asp782Gly) c.2285A>G (p.Asp762Gly) c.2189A>G (p.Asp730Gly) | dbSNP |
6 | g.43048155T>G | CA364218138 | CUL7,KLC4 | n.6A>C c.2162A>C (p.Asp721Ala) n.2445A>C c.2258A>C (p.Asp753Ala) n.2461A>C c.111A>C n.2496A>C c.654A>C c.-553+4647T>G (n.-553+4647T>G) c.2414A>C (p.Asp805Ala) c.2318A>C (p.Asp773Ala) c.-21A>C (n.-21A>C) c.2441A>C (p.Asp814Ala) c.2345A>C (p.Asp782Ala) c.2285A>C (p.Asp762Ala) c.2189A>C (p.Asp730Ala) | |
6 | g.43048156C>A | CA364218142 | CUL7,KLC4 | n.5G>T c.2161G>T (p.Asp721Tyr) n.2444G>T c.2257G>T (p.Asp753Tyr) n.2460G>T c.110G>T n.2495G>T c.653G>T c.-553+4648C>A (n.-553+4648C>A) c.2413G>T (p.Asp805Tyr) c.2317G>T (p.Asp773Tyr) c.-22G>T (n.-22G>T) c.2440G>T (p.Asp814Tyr) c.2344G>T (p.Asp782Tyr) c.2284G>T (p.Asp762Tyr) c.2188G>T (p.Asp730Tyr) | |
6 | g.43048156C= | CA1624357224 | CUL7,KLC4 | n.5G= c.2161G= (p.Asp721=) n.2444G= c.2257G= (p.Asp753=) n.2460G= c.110G= n.2495G= c.653G= c.-553+4648C= (n.-553+4648C=) c.2413G= (p.Asp805=) c.2317G= (p.Asp773=) c.-22G= (n.-22G=) c.2440G= (p.Asp814=) c.2344G= (p.Asp782=) c.2284G= (p.Asp762=) c.2188G= (p.Asp730=) | |
6 | g.43048156C>G | CA3813974 | CUL7,KLC4 | n.5G>C c.2161G>C (p.Asp721His) n.2444G>C c.2257G>C (p.Asp753His) n.2460G>C c.110G>C n.2495G>C c.653G>C c.-553+4648C>G (n.-553+4648C>G) c.2413G>C (p.Asp805His) c.2317G>C (p.Asp773His) c.-22G>C (n.-22G>C) c.2440G>C (p.Asp814His) c.2344G>C (p.Asp782His) c.2284G>C (p.Asp762His) c.2188G>C (p.Asp730His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048156C>T | CA364218146 | CUL7,KLC4 | n.5G>A c.2161G>A (p.Asp721Asn) n.2444G>A c.2257G>A (p.Asp753Asn) n.2460G>A c.110G>A n.2495G>A c.653G>A c.-553+4648C>T (n.-553+4648C>T) c.2413G>A (p.Asp805Asn) c.2317G>A (p.Asp773Asn) c.-22G>A (n.-22G>A) c.2440G>A (p.Asp814Asn) c.2344G>A (p.Asp782Asn) c.2284G>A (p.Asp762Asn) c.2188G>A (p.Asp730Asn) | |
6 | g.43048159_43048178del | CA2739273060 | CUL7,KLC4 | c.2142_2161del (p.Cys714Ter) n.2425_2444del c.2238_2257del (p.Cys746Ter) n.2441_2460del c.91_110del n.2476_2495del c.634_653del c.-553+4651_-553+4670del (n.-553+4651_-553+4670del) c.2394_2413del (p.Cys798Ter) c.2298_2317del (p.Cys766Ter) c.-41_-22del (n.-41_-22del) c.2421_2440del (p.Cys807Ter) c.2325_2344del (p.Cys775Ter) c.2265_2284del (p.Cys755Ter) c.2169_2188del (p.Cys723Ter) | ClinVar |
6 | g.43048157A>C | CA450261507 | CUL7,KLC4 | n.4T>G c.2160T>G (p.Thr720=) n.2443T>G c.2256T>G (p.Thr752=) n.2459T>G c.109T>G n.2494T>G c.652T>G c.-553+4649A>C (n.-553+4649A>C) c.2412T>G (p.Thr804=) c.2316T>G (p.Thr772=) c.-23T>G (n.-23T>G) c.2439T>G (p.Thr813=) c.2343T>G (p.Thr781=) c.2283T>G (p.Thr761=) c.2187T>G (p.Thr729=) | |
6 | g.43048157A>G | CA450261510 | CUL7,KLC4 | n.4T>C c.2160T>C (p.Thr720=) n.2443T>C c.2256T>C (p.Thr752=) n.2459T>C c.109T>C n.2494T>C c.652T>C c.-553+4649A>G (n.-553+4649A>G) c.2412T>C (p.Thr804=) c.2316T>C (p.Thr772=) c.-23T>C (n.-23T>C) c.2439T>C (p.Thr813=) c.2343T>C (p.Thr781=) c.2283T>C (p.Thr761=) c.2187T>C (p.Thr729=) | |
6 | g.43048157A>T | CA450261509 | CUL7,KLC4 | n.4T>A c.2160T>A (p.Thr720=) n.2443T>A c.2256T>A (p.Thr752=) n.2459T>A c.109T>A n.2494T>A c.652T>A c.-553+4649A>T (n.-553+4649A>T) c.2412T>A (p.Thr804=) c.2316T>A (p.Thr772=) c.-23T>A (n.-23T>A) c.2439T>A (p.Thr813=) c.2343T>A (p.Thr781=) c.2283T>A (p.Thr761=) c.2187T>A (p.Thr729=) | |
6 | g.43048158G>A | CA364218149 | CUL7,KLC4 | n.3C>T c.2159C>T (p.Thr720Ile) n.2442C>T c.2255C>T (p.Thr752Ile) n.2458C>T c.108C>T n.2493C>T c.651C>T c.-553+4650G>A (n.-553+4650G>A) c.2411C>T (p.Thr804Ile) c.2315C>T (p.Thr772Ile) c.-24C>T (n.-24C>T) c.2438C>T (p.Thr813Ile) c.2342C>T (p.Thr781Ile) c.2282C>T (p.Thr761Ile) c.2186C>T (p.Thr729Ile) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048158G>C | CA364218151 | CUL7,KLC4 | n.3C>G c.2159C>G (p.Thr720Ser) n.2442C>G c.2255C>G (p.Thr752Ser) n.2458C>G c.108C>G n.2493C>G c.651C>G c.-553+4650G>C (n.-553+4650G>C) c.2411C>G (p.Thr804Ser) c.2315C>G (p.Thr772Ser) c.-24C>G (n.-24C>G) c.2438C>G (p.Thr813Ser) c.2342C>G (p.Thr781Ser) c.2282C>G (p.Thr761Ser) c.2186C>G (p.Thr729Ser) | |
6 | g.43048158G= | CA1624357225 | CUL7,KLC4 | n.3C= c.2159C= (p.Thr720=) n.2442C= c.2255C= (p.Thr752=) n.2458C= c.108C= n.2493C= c.651C= c.-553+4650G= (n.-553+4650G=) c.2411C= (p.Thr804=) c.2315C= (p.Thr772=) c.-24C= (n.-24C=) c.2438C= (p.Thr813=) c.2342C= (p.Thr781=) c.2282C= (p.Thr761=) c.2186C= (p.Thr729=) | |
6 | g.43048158G>T | CA364218153 | CUL7,KLC4 | n.3C>A c.2159C>A (p.Thr720Asn) n.2442C>A c.2255C>A (p.Thr752Asn) n.2458C>A c.108C>A n.2493C>A c.651C>A c.-553+4650G>T (n.-553+4650G>T) c.2411C>A (p.Thr804Asn) c.2315C>A (p.Thr772Asn) c.-24C>A (n.-24C>A) c.2438C>A (p.Thr813Asn) c.2342C>A (p.Thr781Asn) c.2282C>A (p.Thr761Asn) c.2186C>A (p.Thr729Asn) | |
6 | g.43048158_43048159insGT | CA2740738907 | CUL7,KLC4 | n.2_3insAC c.2158_2159insAC (p.Thr720AsnfsTer10) n.2441_2442insAC c.2254_2255insAC (p.Thr752AsnfsTer6) n.2457_2458insAC c.107_108insAC n.2492_2493insAC c.2254_2255insAC (p.Thr752AsnfsTer10) c.650_651insAC c.-553+4650_-553+4651insGT (n.-553+4650_-553+4651insGT) c.2410_2411insAC (p.Thr804AsnfsTer10) c.2314_2315insAC (p.Thr772AsnfsTer10) c.-25_-24insAC (n.-25_-24insAC) c.2437_2438insAC (p.Thr813AsnfsTer10) c.2341_2342insAC (p.Thr781AsnfsTer10) c.2281_2282insAC (p.Thr761AsnfsTer10) c.2185_2186insAC (p.Thr729AsnfsTer10) | |
6 | g.43048159T>A | CA364218157 | CUL7,KLC4 | n.2A>T c.2158A>T (p.Thr720Ser) n.2441A>T c.2254A>T (p.Thr752Ser) n.2457A>T c.107A>T n.2492A>T c.650A>T c.-553+4651T>A (n.-553+4651T>A) c.2410A>T (p.Thr804Ser) c.2314A>T (p.Thr772Ser) c.-25A>T (n.-25A>T) c.2437A>T (p.Thr813Ser) c.2341A>T (p.Thr781Ser) c.2281A>T (p.Thr761Ser) c.2185A>T (p.Thr729Ser) | |
6 | g.43048159T>C | CA364218159 | CUL7,KLC4 | n.2A>G c.2158A>G (p.Thr720Ala) n.2441A>G c.2254A>G (p.Thr752Ala) n.2457A>G c.107A>G n.2492A>G c.650A>G c.-553+4651T>C (n.-553+4651T>C) c.2410A>G (p.Thr804Ala) c.2314A>G (p.Thr772Ala) c.-25A>G (n.-25A>G) c.2437A>G (p.Thr813Ala) c.2341A>G (p.Thr781Ala) c.2281A>G (p.Thr761Ala) c.2185A>G (p.Thr729Ala) | dbSNP gnomAD v4 |
6 | g.43048159T>G | CA364218161 | CUL7,KLC4 | n.2A>C c.2158A>C (p.Thr720Pro) n.2441A>C c.2254A>C (p.Thr752Pro) n.2457A>C c.107A>C n.2492A>C c.650A>C c.-553+4651T>G (n.-553+4651T>G) c.2410A>C (p.Thr804Pro) c.2314A>C (p.Thr772Pro) c.-25A>C (n.-25A>C) c.2437A>C (p.Thr813Pro) c.2341A>C (p.Thr781Pro) c.2281A>C (p.Thr761Pro) c.2185A>C (p.Thr729Pro) | |
6 | g.43048159T= | CA1624357226 | CUL7,KLC4 | n.2A= c.2158A= (p.Thr720=) n.2441A= c.2254A= (p.Thr752=) n.2457A= c.107A= n.2492A= c.650A= c.-553+4651T= (n.-553+4651T=) c.2410A= (p.Thr804=) c.2314A= (p.Thr772=) c.-25A= (n.-25A=) c.2437A= (p.Thr813=) c.2341A= (p.Thr781=) c.2281A= (p.Thr761=) c.2185A= (p.Thr729=) | |
6 | g.43048160G>A | CA3813975 | CUL7,KLC4 | n.1C>T c.2157C>T (p.Asn719=) n.2440C>T c.2253C>T (p.Asn751=) n.2456C>T c.106C>T n.2491C>T c.649C>T c.-553+4652G>A (n.-553+4652G>A) c.2409C>T (p.Asn803=) c.2313C>T (p.Asn771=) c.-26C>T (n.-26C>T) c.2436C>T (p.Asn812=) c.2340C>T (p.Asn780=) c.2280C>T (p.Asn760=) c.2184C>T (p.Asn728=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048160G>C | CA364218166 | CUL7,KLC4 | n.1C>G c.2157C>G (p.Asn719Lys) n.2440C>G c.2253C>G (p.Asn751Lys) n.2456C>G c.106C>G n.2491C>G c.649C>G c.-553+4652G>C (n.-553+4652G>C) c.2409C>G (p.Asn803Lys) c.2313C>G (p.Asn771Lys) c.-26C>G (n.-26C>G) c.2436C>G (p.Asn812Lys) c.2340C>G (p.Asn780Lys) c.2280C>G (p.Asn760Lys) c.2184C>G (p.Asn728Lys) | |
6 | g.43048160G= | CA1624357227 | CUL7,KLC4 | n.1C= c.2157C= (p.Asn719=) n.2440C= c.2253C= (p.Asn751=) n.2456C= c.106C= n.2491C= c.649C= c.-553+4652G= (n.-553+4652G=) c.2409C= (p.Asn803=) c.2313C= (p.Asn771=) c.-26C= (n.-26C=) c.2436C= (p.Asn812=) c.2340C= (p.Asn780=) c.2280C= (p.Asn760=) c.2184C= (p.Asn728=) | |
6 | g.43048160G>T | CA364218169 | CUL7,KLC4 | n.1C>A c.2157C>A (p.Asn719Lys) n.2440C>A c.2253C>A (p.Asn751Lys) n.2456C>A c.106C>A n.2491C>A c.649C>A c.-553+4652G>T (n.-553+4652G>T) c.2409C>A (p.Asn803Lys) c.2313C>A (p.Asn771Lys) c.-26C>A (n.-26C>A) c.2436C>A (p.Asn812Lys) c.2340C>A (p.Asn780Lys) c.2280C>A (p.Asn760Lys) c.2184C>A (p.Asn728Lys) | gnomAD v4 |
6 | g.43048161T>A | CA364218178 | CUL7,KLC4 | c.2156A>T (p.Asn719Ile) n.2439A>T c.2252A>T (p.Asn751Ile) n.2455A>T c.105A>T n.2490A>T c.648A>T c.-553+4653T>A (n.-553+4653T>A) c.2408A>T (p.Asn803Ile) c.2312A>T (p.Asn771Ile) c.-27A>T (n.-27A>T) c.2435A>T (p.Asn812Ile) c.2339A>T (p.Asn780Ile) c.2279A>T (p.Asn760Ile) c.2183A>T (p.Asn728Ile) | |
6 | g.43048161T>C | CA364218175 | CUL7,KLC4 | c.2156A>G (p.Asn719Ser) n.2439A>G c.2252A>G (p.Asn751Ser) n.2455A>G c.105A>G n.2490A>G c.648A>G c.-553+4653T>C (n.-553+4653T>C) c.2408A>G (p.Asn803Ser) c.2312A>G (p.Asn771Ser) c.-27A>G (n.-27A>G) c.2435A>G (p.Asn812Ser) c.2339A>G (p.Asn780Ser) c.2279A>G (p.Asn760Ser) c.2183A>G (p.Asn728Ser) | |
6 | g.43048161T>G | CA364218173 | CUL7,KLC4 | c.2156A>C (p.Asn719Thr) n.2439A>C c.2252A>C (p.Asn751Thr) n.2455A>C c.105A>C n.2490A>C c.648A>C c.-553+4653T>G (n.-553+4653T>G) c.2408A>C (p.Asn803Thr) c.2312A>C (p.Asn771Thr) c.-27A>C (n.-27A>C) c.2435A>C (p.Asn812Thr) c.2339A>C (p.Asn780Thr) c.2279A>C (p.Asn760Thr) c.2183A>C (p.Asn728Thr) | |
6 | g.43048162T>A | CA364218181 | CUL7,KLC4 | c.2155A>T (p.Asn719Tyr) n.2438A>T c.2251A>T (p.Asn751Tyr) n.2454A>T c.104A>T n.2489A>T c.647A>T c.-553+4654T>A (n.-553+4654T>A) c.2407A>T (p.Asn803Tyr) c.2311A>T (p.Asn771Tyr) c.-28A>T (n.-28A>T) c.2434A>T (p.Asn812Tyr) c.2338A>T (p.Asn780Tyr) c.2278A>T (p.Asn760Tyr) c.2182A>T (p.Asn728Tyr) | |
6 | g.43048162T>C | CA3813976 | CUL7,KLC4 | c.2155A>G (p.Asn719Asp) n.2438A>G c.2251A>G (p.Asn751Asp) n.2454A>G c.104A>G n.2489A>G c.647A>G c.-553+4654T>C (n.-553+4654T>C) c.2407A>G (p.Asn803Asp) c.2311A>G (p.Asn771Asp) c.-28A>G (n.-28A>G) c.2434A>G (p.Asn812Asp) c.2338A>G (p.Asn780Asp) c.2278A>G (p.Asn760Asp) c.2182A>G (p.Asn728Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048162T>G | CA364218185 | CUL7,KLC4 | c.2155A>C (p.Asn719His) n.2438A>C c.2251A>C (p.Asn751His) n.2454A>C c.104A>C n.2489A>C c.647A>C c.-553+4654T>G (n.-553+4654T>G) c.2407A>C (p.Asn803His) c.2311A>C (p.Asn771His) c.-28A>C (n.-28A>C) c.2434A>C (p.Asn812His) c.2338A>C (p.Asn780His) c.2278A>C (p.Asn760His) c.2182A>C (p.Asn728His) | |
6 | g.43048162T= | CA1624357228 | CUL7,KLC4 | c.2155A= (p.Asn719=) n.2438A= c.2251A= (p.Asn751=) n.2454A= c.104A= n.2489A= c.647A= c.-553+4654T= (n.-553+4654T=) c.2407A= (p.Asn803=) c.2311A= (p.Asn771=) c.-28A= (n.-28A=) c.2434A= (p.Asn812=) c.2338A= (p.Asn780=) c.2278A= (p.Asn760=) c.2182A= (p.Asn728=) | |
6 | g.43048163T>A | CA450261514 | CUL7,KLC4 | c.2154A>T (p.Pro718=) n.2437A>T c.2250A>T (p.Pro750=) n.2453A>T c.103A>T n.2488A>T c.646A>T c.-553+4655T>A (n.-553+4655T>A) c.2406A>T (p.Pro802=) c.2310A>T (p.Pro770=) c.-29A>T (n.-29A>T) c.2433A>T (p.Pro811=) c.2337A>T (p.Pro779=) c.2277A>T (p.Pro759=) c.2181A>T (p.Pro727=) | |
6 | g.43048163T>C | CA450261516 | CUL7,KLC4 | c.2154A>G (p.Pro718=) n.2437A>G c.2250A>G (p.Pro750=) n.2453A>G c.103A>G n.2488A>G c.646A>G c.-553+4655T>C (n.-553+4655T>C) c.2406A>G (p.Pro802=) c.2310A>G (p.Pro770=) c.-29A>G (n.-29A>G) c.2433A>G (p.Pro811=) c.2337A>G (p.Pro779=) c.2277A>G (p.Pro759=) c.2181A>G (p.Pro727=) | |
6 | g.43048163T>G | CA450261515 | CUL7,KLC4 | c.2154A>C (p.Pro718=) n.2437A>C c.2250A>C (p.Pro750=) n.2453A>C c.103A>C n.2488A>C c.646A>C c.-553+4655T>G (n.-553+4655T>G) c.2406A>C (p.Pro802=) c.2310A>C (p.Pro770=) c.-29A>C (n.-29A>C) c.2433A>C (p.Pro811=) c.2337A>C (p.Pro779=) c.2277A>C (p.Pro759=) c.2181A>C (p.Pro727=) | |
6 | g.43048164G>A | CA364218188 | CUL7,KLC4 | c.2153C>T (p.Pro718Leu) n.2436C>T c.2249C>T (p.Pro750Leu) n.2452C>T c.102C>T n.2487C>T c.645C>T c.-553+4656G>A (n.-553+4656G>A) c.2405C>T (p.Pro802Leu) c.2309C>T (p.Pro770Leu) c.-30C>T (n.-30C>T) c.2432C>T (p.Pro811Leu) c.2336C>T (p.Pro779Leu) c.2276C>T (p.Pro759Leu) c.2180C>T (p.Pro727Leu) | |
6 | g.43048164G>C | CA364218190 | CUL7,KLC4 | c.2153C>G (p.Pro718Arg) n.2436C>G c.2249C>G (p.Pro750Arg) n.2452C>G c.102C>G n.2487C>G c.645C>G c.-553+4656G>C (n.-553+4656G>C) c.2405C>G (p.Pro802Arg) c.2309C>G (p.Pro770Arg) c.-30C>G (n.-30C>G) c.2432C>G (p.Pro811Arg) c.2336C>G (p.Pro779Arg) c.2276C>G (p.Pro759Arg) c.2180C>G (p.Pro727Arg) | |
6 | g.43048164G>T | CA364218193 | CUL7,KLC4 | c.2153C>A (p.Pro718Gln) n.2436C>A c.2249C>A (p.Pro750Gln) n.2452C>A c.102C>A n.2487C>A c.645C>A c.-553+4656G>T (n.-553+4656G>T) c.2405C>A (p.Pro802Gln) c.2309C>A (p.Pro770Gln) c.-30C>A (n.-30C>A) c.2432C>A (p.Pro811Gln) c.2336C>A (p.Pro779Gln) c.2276C>A (p.Pro759Gln) c.2180C>A (p.Pro727Gln) | |
6 | g.43048165G>A | CA364218195 | CUL7,KLC4 | c.2152C>T (p.Pro718Ser) n.2435C>T c.2248C>T (p.Pro750Ser) n.2451C>T c.101C>T n.2486C>T c.644C>T c.-553+4657G>A (n.-553+4657G>A) c.2404C>T (p.Pro802Ser) c.2308C>T (p.Pro770Ser) c.-31C>T (n.-31C>T) c.2431C>T (p.Pro811Ser) c.2335C>T (p.Pro779Ser) c.2275C>T (p.Pro759Ser) c.2179C>T (p.Pro727Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048165G>C | CA364218198 | CUL7,KLC4 | c.2152C>G (p.Pro718Ala) n.2435C>G c.2248C>G (p.Pro750Ala) n.2451C>G c.101C>G n.2486C>G c.644C>G c.-553+4657G>C (n.-553+4657G>C) c.2404C>G (p.Pro802Ala) c.2308C>G (p.Pro770Ala) c.-31C>G (n.-31C>G) c.2431C>G (p.Pro811Ala) c.2335C>G (p.Pro779Ala) c.2275C>G (p.Pro759Ala) c.2179C>G (p.Pro727Ala) | |
6 | g.43048165G= | CA1624357229 | CUL7,KLC4 | c.2152C= (p.Pro718=) n.2435C= c.2248C= (p.Pro750=) n.2451C= c.101C= n.2486C= c.644C= c.-553+4657G= (n.-553+4657G=) c.2404C= (p.Pro802=) c.2308C= (p.Pro770=) c.-31C= (n.-31C=) c.2431C= (p.Pro811=) c.2335C= (p.Pro779=) c.2275C= (p.Pro759=) c.2179C= (p.Pro727=) | |
6 | g.43048165G>T | CA364218200 | CUL7,KLC4 | c.2152C>A (p.Pro718Thr) n.2435C>A c.2248C>A (p.Pro750Thr) n.2451C>A c.101C>A n.2486C>A c.644C>A c.-553+4657G>T (n.-553+4657G>T) c.2404C>A (p.Pro802Thr) c.2308C>A (p.Pro770Thr) c.-31C>A (n.-31C>A) c.2431C>A (p.Pro811Thr) c.2335C>A (p.Pro779Thr) c.2275C>A (p.Pro759Thr) c.2179C>A (p.Pro727Thr) | |
6 | g.43048166G>A | CA138249105 | CUL7,KLC4 | c.2151C>T (p.Ser717=) n.2434C>T c.2247C>T (p.Ser749=) n.2450C>T c.100C>T n.2485C>T c.643C>T c.-553+4658G>A (n.-553+4658G>A) c.2403C>T (p.Ser801=) c.2307C>T (p.Ser769=) c.-32C>T (n.-32C>T) c.2430C>T (p.Ser810=) c.2334C>T (p.Ser778=) c.2274C>T (p.Ser758=) c.2178C>T (p.Ser726=) | dbSNP gnomAD v4 |
6 | g.43048166G>C | CA450261518 | CUL7,KLC4 | c.2151C>G (p.Ser717=) n.2434C>G c.2247C>G (p.Ser749=) n.2450C>G c.100C>G n.2485C>G c.643C>G c.-553+4658G>C (n.-553+4658G>C) c.2403C>G (p.Ser801=) c.2307C>G (p.Ser769=) c.-32C>G (n.-32C>G) c.2430C>G (p.Ser810=) c.2334C>G (p.Ser778=) c.2274C>G (p.Ser758=) c.2178C>G (p.Ser726=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.43048166G= | CA1624357230 | CUL7,KLC4 | c.2151C= (p.Ser717=) n.2434C= c.2247C= (p.Ser749=) n.2450C= c.100C= n.2485C= c.643C= c.-553+4658G= (n.-553+4658G=) c.2403C= (p.Ser801=) c.2307C= (p.Ser769=) c.-32C= (n.-32C=) c.2430C= (p.Ser810=) c.2334C= (p.Ser778=) c.2274C= (p.Ser758=) c.2178C= (p.Ser726=) | |
6 | g.43048166G>T | CA450261519 | CUL7,KLC4 | c.2151C>A (p.Ser717=) n.2434C>A c.2247C>A (p.Ser749=) n.2450C>A c.100C>A n.2485C>A c.643C>A c.-553+4658G>T (n.-553+4658G>T) c.2403C>A (p.Ser801=) c.2307C>A (p.Ser769=) c.-32C>A (n.-32C>A) c.2430C>A (p.Ser810=) c.2334C>A (p.Ser778=) c.2274C>A (p.Ser758=) c.2178C>A (p.Ser726=) | |
6 | g.43048166_43048167insT | CA2580074605 | CUL7,KLC4 | c.2150_2151insA (p.Asn719LysfsTer3) n.2433_2434insA c.2246_2247insA (p.Asn751LysfsTer3) n.2449_2450insA c.99_100insA n.2484_2485insA c.642_643insA c.-553+4658_-553+4659insT (n.-553+4658_-553+4659insT) c.2402_2403insA (p.Asn803LysfsTer3) c.2306_2307insA (p.Asn771LysfsTer3) c.-33_-32insA (n.-33_-32insA) c.2429_2430insA (p.Asn812LysfsTer3) c.2333_2334insA (p.Asn780LysfsTer3) c.2273_2274insA (p.Asn760LysfsTer3) c.2177_2178insA (p.Asn728LysfsTer3) | ClinVar |
6 | g.43048167G>A | CA364218202 | CUL7,KLC4 | c.2150C>T (p.Ser717Phe) n.2433C>T c.2246C>T (p.Ser749Phe) n.2449C>T c.99C>T n.2484C>T c.642C>T c.-553+4659G>A (n.-553+4659G>A) c.2402C>T (p.Ser801Phe) c.2306C>T (p.Ser769Phe) c.-33C>T (n.-33C>T) c.2429C>T (p.Ser810Phe) c.2333C>T (p.Ser778Phe) c.2273C>T (p.Ser758Phe) c.2177C>T (p.Ser726Phe) | |
6 | g.43048167G>C | CA364218204 | CUL7,KLC4 | c.2150C>G (p.Ser717Cys) n.2433C>G c.2246C>G (p.Ser749Cys) n.2449C>G c.99C>G n.2484C>G c.642C>G c.-553+4659G>C (n.-553+4659G>C) c.2402C>G (p.Ser801Cys) c.2306C>G (p.Ser769Cys) c.-33C>G (n.-33C>G) c.2429C>G (p.Ser810Cys) c.2333C>G (p.Ser778Cys) c.2273C>G (p.Ser758Cys) c.2177C>G (p.Ser726Cys) | |
6 | g.43048167G>T | CA364218206 | CUL7,KLC4 | c.2150C>A (p.Ser717Tyr) n.2433C>A c.2246C>A (p.Ser749Tyr) n.2449C>A c.99C>A n.2484C>A c.642C>A c.-553+4659G>T (n.-553+4659G>T) c.2402C>A (p.Ser801Tyr) c.2306C>A (p.Ser769Tyr) c.-33C>A (n.-33C>A) c.2429C>A (p.Ser810Tyr) c.2333C>A (p.Ser778Tyr) c.2273C>A (p.Ser758Tyr) c.2177C>A (p.Ser726Tyr) | gnomAD v4 |
6 | g.43048168A>C | CA364218209 | CUL7,KLC4 | c.2149T>G (p.Ser717Ala) n.2432T>G c.2245T>G (p.Ser749Ala) n.2448T>G c.98T>G n.2483T>G c.641T>G c.-553+4660A>C (n.-553+4660A>C) c.2401T>G (p.Ser801Ala) c.2305T>G (p.Ser769Ala) c.-34T>G (n.-34T>G) c.2428T>G (p.Ser810Ala) c.2332T>G (p.Ser778Ala) c.2272T>G (p.Ser758Ala) c.2176T>G (p.Ser726Ala) | |
6 | g.43048168A>G | CA364218214 | CUL7,KLC4 | c.2149T>C (p.Ser717Pro) n.2432T>C c.2245T>C (p.Ser749Pro) n.2448T>C c.98T>C n.2483T>C c.641T>C c.-553+4660A>G (n.-553+4660A>G) c.2401T>C (p.Ser801Pro) c.2305T>C (p.Ser769Pro) c.-34T>C (n.-34T>C) c.2428T>C (p.Ser810Pro) c.2332T>C (p.Ser778Pro) c.2272T>C (p.Ser758Pro) c.2176T>C (p.Ser726Pro) | |
6 | g.43048168A>T | CA364218212 | CUL7,KLC4 | c.2149T>A (p.Ser717Thr) n.2432T>A c.2245T>A (p.Ser749Thr) n.2448T>A c.98T>A n.2483T>A c.641T>A c.-553+4660A>T (n.-553+4660A>T) c.2401T>A (p.Ser801Thr) c.2305T>A (p.Ser769Thr) c.-34T>A (n.-34T>A) c.2428T>A (p.Ser810Thr) c.2332T>A (p.Ser778Thr) c.2272T>A (p.Ser758Thr) c.2176T>A (p.Ser726Thr) | |
6 | g.43048169C>A | CA450261520 | CUL7,KLC4 | c.2148G>T (p.Arg716=) n.2431G>T c.2244G>T (p.Arg748=) n.2447G>T c.97G>T n.2482G>T c.640G>T c.-553+4661C>A (n.-553+4661C>A) c.2400G>T (p.Arg800=) c.2304G>T (p.Arg768=) c.-35G>T (n.-35G>T) c.2427G>T (p.Arg809=) c.2331G>T (p.Arg777=) c.2271G>T (p.Arg757=) c.2175G>T (p.Arg725=) | gnomAD v4 |
6 | g.43048169C>G | CA450261521 | CUL7,KLC4 | c.2148G>C (p.Arg716=) n.2431G>C c.2244G>C (p.Arg748=) n.2447G>C c.97G>C n.2482G>C c.640G>C c.-553+4661C>G (n.-553+4661C>G) c.2400G>C (p.Arg800=) c.2304G>C (p.Arg768=) c.-35G>C (n.-35G>C) c.2427G>C (p.Arg809=) c.2331G>C (p.Arg777=) c.2271G>C (p.Arg757=) c.2175G>C (p.Arg725=) | gnomAD v4 |
6 | g.43048169C>T | CA450261522 | CUL7,KLC4 | c.2148G>A (p.Arg716=) n.2431G>A c.2244G>A (p.Arg748=) n.2447G>A c.97G>A n.2482G>A c.640G>A c.-553+4661C>T (n.-553+4661C>T) c.2400G>A (p.Arg800=) c.2304G>A (p.Arg768=) c.-35G>A (n.-35G>A) c.2427G>A (p.Arg809=) c.2331G>A (p.Arg777=) c.2271G>A (p.Arg757=) c.2175G>A (p.Arg725=) | |
6 | g.43048170C>A | CA364218217 | CUL7,KLC4 | c.2147G>T (p.Arg716Leu) n.2430G>T c.2243G>T (p.Arg748Leu) n.2446G>T c.96G>T n.2481G>T c.639G>T c.-553+4662C>A (n.-553+4662C>A) c.2399G>T (p.Arg800Leu) c.2303G>T (p.Arg768Leu) c.-36G>T (n.-36G>T) c.2426G>T (p.Arg809Leu) c.2330G>T (p.Arg777Leu) c.2270G>T (p.Arg757Leu) c.2174G>T (p.Arg725Leu) | |
6 | g.43048170C= | CA1624357231 | CUL7,KLC4 | c.2147G= (p.Arg716=) n.2430G= c.2243G= (p.Arg748=) n.2446G= c.96G= n.2481G= c.639G= c.-553+4662C= (n.-553+4662C=) c.2399G= (p.Arg800=) c.2303G= (p.Arg768=) c.-36G= (n.-36G=) c.2426G= (p.Arg809=) c.2330G= (p.Arg777=) c.2270G= (p.Arg757=) c.2174G= (p.Arg725=) | |
6 | g.43048170C>G | CA364218221 | CUL7,KLC4 | c.2147G>C (p.Arg716Pro) n.2430G>C c.2243G>C (p.Arg748Pro) n.2446G>C c.96G>C n.2481G>C c.639G>C c.-553+4662C>G (n.-553+4662C>G) c.2399G>C (p.Arg800Pro) c.2303G>C (p.Arg768Pro) c.-36G>C (n.-36G>C) c.2426G>C (p.Arg809Pro) c.2330G>C (p.Arg777Pro) c.2270G>C (p.Arg757Pro) c.2174G>C (p.Arg725Pro) | dbSNP |
6 | g.43048170C>T | CA3813977 | CUL7,KLC4 | c.2147G>A (p.Arg716Gln) n.2430G>A c.2243G>A (p.Arg748Gln) n.2446G>A c.96G>A n.2481G>A c.639G>A c.-553+4662C>T (n.-553+4662C>T) c.2399G>A (p.Arg800Gln) c.2303G>A (p.Arg768Gln) c.-36G>A (n.-36G>A) c.2426G>A (p.Arg809Gln) c.2330G>A (p.Arg777Gln) c.2270G>A (p.Arg757Gln) c.2174G>A (p.Arg725Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048171G>A | CA3813978 | CUL7,KLC4 | c.2146C>T (p.Arg716Trp) n.2429C>T c.2242C>T (p.Arg748Trp) n.2445C>T c.95C>T n.2480C>T c.638C>T c.-553+4663G>A (n.-553+4663G>A) c.2398C>T (p.Arg800Trp) c.2302C>T (p.Arg768Trp) c.-37C>T (n.-37C>T) c.2425C>T (p.Arg809Trp) c.2329C>T (p.Arg777Trp) c.2269C>T (p.Arg757Trp) c.2173C>T (p.Arg725Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048171G>C | CA364218223 | CUL7,KLC4 | c.2146C>G (p.Arg716Gly) n.2429C>G c.2242C>G (p.Arg748Gly) n.2445C>G c.95C>G n.2480C>G c.638C>G c.-553+4663G>C (n.-553+4663G>C) c.2398C>G (p.Arg800Gly) c.2302C>G (p.Arg768Gly) c.-37C>G (n.-37C>G) c.2425C>G (p.Arg809Gly) c.2329C>G (p.Arg777Gly) c.2269C>G (p.Arg757Gly) c.2173C>G (p.Arg725Gly) | |
6 | g.43048171G= | CA1624357232 | CUL7,KLC4 | c.2146C= (p.Arg716=) n.2429C= c.2242C= (p.Arg748=) n.2445C= c.95C= n.2480C= c.638C= c.-553+4663G= (n.-553+4663G=) c.2398C= (p.Arg800=) c.2302C= (p.Arg768=) c.-37C= (n.-37C=) c.2425C= (p.Arg809=) c.2329C= (p.Arg777=) c.2269C= (p.Arg757=) c.2173C= (p.Arg725=) | |
6 | g.43048171G>T | CA450261523 | CUL7,KLC4 | c.2146C>A (p.Arg716=) n.2429C>A c.2242C>A (p.Arg748=) n.2445C>A c.95C>A n.2480C>A c.638C>A c.-553+4663G>T (n.-553+4663G>T) c.2398C>A (p.Arg800=) c.2302C>A (p.Arg768=) c.-37C>A (n.-37C>A) c.2425C>A (p.Arg809=) c.2329C>A (p.Arg777=) c.2269C>A (p.Arg757=) c.2173C>A (p.Arg725=) | |
6 | g.43048172C>A | CA450261526 | CUL7,KLC4 | c.2145G>T (p.Leu715=) n.2428G>T c.2241G>T (p.Leu747=) n.2444G>T c.94G>T n.2479G>T c.637G>T c.-553+4664C>A (n.-553+4664C>A) c.2397G>T (p.Leu799=) c.2301G>T (p.Leu767=) c.-38G>T (n.-38G>T) c.2424G>T (p.Leu808=) c.2328G>T (p.Leu776=) c.2268G>T (p.Leu756=) c.2172G>T (p.Leu724=) | |
6 | g.43048172C>G | CA450261524 | CUL7,KLC4 | c.2145G>C (p.Leu715=) n.2428G>C c.2241G>C (p.Leu747=) n.2444G>C c.94G>C n.2479G>C c.637G>C c.-553+4664C>G (n.-553+4664C>G) c.2397G>C (p.Leu799=) c.2301G>C (p.Leu767=) c.-38G>C (n.-38G>C) c.2424G>C (p.Leu808=) c.2328G>C (p.Leu776=) c.2268G>C (p.Leu756=) c.2172G>C (p.Leu724=) | |
6 | g.43048172C>T | CA450261525 | CUL7,KLC4 | c.2145G>A (p.Leu715=) n.2428G>A c.2241G>A (p.Leu747=) n.2444G>A c.94G>A n.2479G>A c.637G>A c.-553+4664C>T (n.-553+4664C>T) c.2397G>A (p.Leu799=) c.2301G>A (p.Leu767=) c.-38G>A (n.-38G>A) c.2424G>A (p.Leu808=) c.2328G>A (p.Leu776=) c.2268G>A (p.Leu756=) c.2172G>A (p.Leu724=) | |
6 | g.43048173A>C | CA364218227 | CUL7,KLC4 | c.2144T>G (p.Leu715Arg) n.2427T>G c.2240T>G (p.Leu747Arg) n.2443T>G c.93T>G n.2478T>G c.636T>G c.-553+4665A>C (n.-553+4665A>C) c.2396T>G (p.Leu799Arg) c.2300T>G (p.Leu767Arg) c.-39T>G (n.-39T>G) c.2423T>G (p.Leu808Arg) c.2327T>G (p.Leu776Arg) c.2267T>G (p.Leu756Arg) c.2171T>G (p.Leu724Arg) | |
6 | g.43048173A>G | CA364218232 | CUL7,KLC4 | c.2144T>C (p.Leu715Pro) n.2427T>C c.2240T>C (p.Leu747Pro) n.2443T>C c.93T>C n.2478T>C c.636T>C c.-553+4665A>G (n.-553+4665A>G) c.2396T>C (p.Leu799Pro) c.2300T>C (p.Leu767Pro) c.-39T>C (n.-39T>C) c.2423T>C (p.Leu808Pro) c.2327T>C (p.Leu776Pro) c.2267T>C (p.Leu756Pro) c.2171T>C (p.Leu724Pro) | |
6 | g.43048173A>T | CA364218229 | CUL7,KLC4 | c.2144T>A (p.Leu715Gln) n.2427T>A c.2240T>A (p.Leu747Gln) n.2443T>A c.93T>A n.2478T>A c.636T>A c.-553+4665A>T (n.-553+4665A>T) c.2396T>A (p.Leu799Gln) c.2300T>A (p.Leu767Gln) c.-39T>A (n.-39T>A) c.2423T>A (p.Leu808Gln) c.2327T>A (p.Leu776Gln) c.2267T>A (p.Leu756Gln) c.2171T>A (p.Leu724Gln) | |
6 | g.43048174G>A | CA450261529 | CUL7,KLC4 | c.2143C>T (p.Leu715=) n.2426C>T c.2239C>T (p.Leu747=) n.2442C>T c.92C>T n.2477C>T c.635C>T c.-553+4666G>A (n.-553+4666G>A) c.2395C>T (p.Leu799=) c.2299C>T (p.Leu767=) c.-40C>T (n.-40C>T) c.2422C>T (p.Leu808=) c.2326C>T (p.Leu776=) c.2266C>T (p.Leu756=) c.2170C>T (p.Leu724=) | gnomAD v4 |
6 | g.43048174G>C | CA364218234 | CUL7,KLC4 | c.2143C>G (p.Leu715Val) n.2426C>G c.2239C>G (p.Leu747Val) n.2442C>G c.92C>G n.2477C>G c.635C>G c.-553+4666G>C (n.-553+4666G>C) c.2395C>G (p.Leu799Val) c.2299C>G (p.Leu767Val) c.-40C>G (n.-40C>G) c.2422C>G (p.Leu808Val) c.2326C>G (p.Leu776Val) c.2266C>G (p.Leu756Val) c.2170C>G (p.Leu724Val) | |
6 | g.43048174G>T | CA364218236 | CUL7,KLC4 | c.2143C>A (p.Leu715Met) n.2426C>A c.2239C>A (p.Leu747Met) n.2442C>A c.92C>A n.2477C>A c.635C>A c.-553+4666G>T (n.-553+4666G>T) c.2395C>A (p.Leu799Met) c.2299C>A (p.Leu767Met) c.-40C>A (n.-40C>A) c.2422C>A (p.Leu808Met) c.2326C>A (p.Leu776Met) c.2266C>A (p.Leu756Met) c.2170C>A (p.Leu724Met) | |
6 | g.43048175G>A | CA450261531 | CUL7,KLC4 | c.2142C>T (p.Cys714=) n.2425C>T c.2238C>T (p.Cys746=) n.2441C>T c.91C>T n.2476C>T c.634C>T c.-553+4667G>A (n.-553+4667G>A) c.2394C>T (p.Cys798=) c.2298C>T (p.Cys766=) c.-41C>T (n.-41C>T) c.2421C>T (p.Cys807=) c.2325C>T (p.Cys775=) c.2265C>T (p.Cys755=) c.2169C>T (p.Cys723=) | gnomAD v4 |
6 | g.43048175G>C | CA364218238 | CUL7,KLC4 | c.2142C>G (p.Cys714Trp) n.2425C>G c.2238C>G (p.Cys746Trp) n.2441C>G c.91C>G n.2476C>G c.634C>G c.-553+4667G>C (n.-553+4667G>C) c.2394C>G (p.Cys798Trp) c.2298C>G (p.Cys766Trp) c.-41C>G (n.-41C>G) c.2421C>G (p.Cys807Trp) c.2325C>G (p.Cys775Trp) c.2265C>G (p.Cys755Trp) c.2169C>G (p.Cys723Trp) | |
6 | g.43048175G= | CA1624357233 | CUL7,KLC4 | c.2142C= (p.Cys714=) n.2425C= c.2238C= (p.Cys746=) n.2441C= c.91C= n.2476C= c.634C= c.-553+4667G= (n.-553+4667G=) c.2394C= (p.Cys798=) c.2298C= (p.Cys766=) c.-41C= (n.-41C=) c.2421C= (p.Cys807=) c.2325C= (p.Cys775=) c.2265C= (p.Cys755=) c.2169C= (p.Cys723=) | |
6 | g.43048175G>T | CA364218240 | CUL7,KLC4 | c.2142C>A (p.Cys714Ter) n.2425C>A c.2238C>A (p.Cys746Ter) n.2441C>A c.91C>A n.2476C>A c.634C>A c.-553+4667G>T (n.-553+4667G>T) c.2394C>A (p.Cys798Ter) c.2298C>A (p.Cys766Ter) c.-41C>A (n.-41C>A) c.2421C>A (p.Cys807Ter) c.2325C>A (p.Cys775Ter) c.2265C>A (p.Cys755Ter) c.2169C>A (p.Cys723Ter) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.43048176C>A | CA364218244 | CUL7,KLC4 | c.2141G>T (p.Cys714Phe) n.2424G>T c.2237G>T (p.Cys746Phe) n.2440G>T c.90G>T n.2475G>T c.633G>T c.-553+4668C>A (n.-553+4668C>A) c.2393G>T (p.Cys798Phe) c.2297G>T (p.Cys766Phe) c.-42G>T (n.-42G>T) c.2420G>T (p.Cys807Phe) c.2324G>T (p.Cys775Phe) c.2264G>T (p.Cys755Phe) c.2168G>T (p.Cys723Phe) | |
6 | g.43048176C= | CA1624357234 | CUL7,KLC4 | c.2141G= (p.Cys714=) n.2424G= c.2237G= (p.Cys746=) n.2440G= c.90G= n.2475G= c.633G= c.-553+4668C= (n.-553+4668C=) c.2393G= (p.Cys798=) c.2297G= (p.Cys766=) c.-42G= (n.-42G=) c.2420G= (p.Cys807=) c.2324G= (p.Cys775=) c.2264G= (p.Cys755=) c.2168G= (p.Cys723=) | |
6 | g.43048176C>G | CA364218248 | CUL7,KLC4 | c.2141G>C (p.Cys714Ser) n.2424G>C c.2237G>C (p.Cys746Ser) n.2440G>C c.90G>C n.2475G>C c.633G>C c.-553+4668C>G (n.-553+4668C>G) c.2393G>C (p.Cys798Ser) c.2297G>C (p.Cys766Ser) c.-42G>C (n.-42G>C) c.2420G>C (p.Cys807Ser) c.2324G>C (p.Cys775Ser) c.2264G>C (p.Cys755Ser) c.2168G>C (p.Cys723Ser) | |
6 | g.43048176C>T | CA364218249 | CUL7,KLC4 | c.2141G>A (p.Cys714Tyr) n.2424G>A c.2237G>A (p.Cys746Tyr) n.2440G>A c.90G>A n.2475G>A c.633G>A c.-553+4668C>T (n.-553+4668C>T) c.2393G>A (p.Cys798Tyr) c.2297G>A (p.Cys766Tyr) c.-42G>A (n.-42G>A) c.2420G>A (p.Cys807Tyr) c.2324G>A (p.Cys775Tyr) c.2264G>A (p.Cys755Tyr) c.2168G>A (p.Cys723Tyr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048177A>C | CA364218252 | CUL7,KLC4 | c.2140T>G (p.Cys714Gly) n.2423T>G c.2236T>G (p.Cys746Gly) n.2439T>G c.89T>G n.2474T>G c.632T>G c.-553+4669A>C (n.-553+4669A>C) c.2392T>G (p.Cys798Gly) c.2296T>G (p.Cys766Gly) c.-43T>G (n.-43T>G) c.2419T>G (p.Cys807Gly) c.2323T>G (p.Cys775Gly) c.2263T>G (p.Cys755Gly) c.2167T>G (p.Cys723Gly) | |
6 | g.43048177A>G | CA364218254 | CUL7,KLC4 | c.2140T>C (p.Cys714Arg) n.2423T>C c.2236T>C (p.Cys746Arg) n.2439T>C c.89T>C n.2474T>C c.632T>C c.-553+4669A>G (n.-553+4669A>G) c.2392T>C (p.Cys798Arg) c.2296T>C (p.Cys766Arg) c.-43T>C (n.-43T>C) c.2419T>C (p.Cys807Arg) c.2323T>C (p.Cys775Arg) c.2263T>C (p.Cys755Arg) c.2167T>C (p.Cys723Arg) | |
6 | g.43048177A>T | CA364218256 | CUL7,KLC4 | c.2140T>A (p.Cys714Ser) n.2423T>A c.2236T>A (p.Cys746Ser) n.2439T>A c.89T>A n.2474T>A c.632T>A c.-553+4669A>T (n.-553+4669A>T) c.2392T>A (p.Cys798Ser) c.2296T>A (p.Cys766Ser) c.-43T>A (n.-43T>A) c.2419T>A (p.Cys807Ser) c.2323T>A (p.Cys775Ser) c.2263T>A (p.Cys755Ser) c.2167T>A (p.Cys723Ser) | |
6 | g.43048178G>A | CA450261532 | CUL7,KLC4 | c.2139C>T (p.Ala713=) n.2422C>T c.2235C>T (p.Ala745=) n.2438C>T c.88C>T n.2473C>T c.631C>T c.-553+4670G>A (n.-553+4670G>A) c.2391C>T (p.Ala797=) c.2295C>T (p.Ala765=) c.-44C>T (n.-44C>T) c.2418C>T (p.Ala806=) c.2322C>T (p.Ala774=) c.2262C>T (p.Ala754=) c.2166C>T (p.Ala722=) | |
6 | g.43048178G>C | CA450261534 | CUL7,KLC4 | c.2139C>G (p.Ala713=) n.2422C>G c.2235C>G (p.Ala745=) n.2438C>G c.88C>G n.2473C>G c.631C>G c.-553+4670G>C (n.-553+4670G>C) c.2391C>G (p.Ala797=) c.2295C>G (p.Ala765=) c.-44C>G (n.-44C>G) c.2418C>G (p.Ala806=) c.2322C>G (p.Ala774=) c.2262C>G (p.Ala754=) c.2166C>G (p.Ala722=) | |
6 | g.43048178G>T | CA450261533 | CUL7,KLC4 | c.2139C>A (p.Ala713=) n.2422C>A c.2235C>A (p.Ala745=) n.2438C>A c.88C>A n.2473C>A c.631C>A c.-553+4670G>T (n.-553+4670G>T) c.2391C>A (p.Ala797=) c.2295C>A (p.Ala765=) c.-44C>A (n.-44C>A) c.2418C>A (p.Ala806=) c.2322C>A (p.Ala774=) c.2262C>A (p.Ala754=) c.2166C>A (p.Ala722=) | |
6 | g.43048179G>A | CA364218260 | CUL7,KLC4 | c.2138C>T (p.Ala713Val) n.2421C>T c.2234C>T (p.Ala745Val) n.2437C>T c.87C>T n.2472C>T c.630C>T c.-553+4671G>A (n.-553+4671G>A) c.2390C>T (p.Ala797Val) c.2294C>T (p.Ala765Val) c.-45C>T (n.-45C>T) c.2417C>T (p.Ala806Val) c.2321C>T (p.Ala774Val) c.2261C>T (p.Ala754Val) c.2165C>T (p.Ala722Val) | gnomAD v4 |
6 | g.43048179G>C | CA364218261 | CUL7,KLC4 | c.2138C>G (p.Ala713Gly) n.2421C>G c.2234C>G (p.Ala745Gly) n.2437C>G c.87C>G n.2472C>G c.630C>G c.-553+4671G>C (n.-553+4671G>C) c.2390C>G (p.Ala797Gly) c.2294C>G (p.Ala765Gly) c.-45C>G (n.-45C>G) c.2417C>G (p.Ala806Gly) c.2321C>G (p.Ala774Gly) c.2261C>G (p.Ala754Gly) c.2165C>G (p.Ala722Gly) | |
6 | g.43048179G>T | CA364218263 | CUL7,KLC4 | c.2138C>A (p.Ala713Asp) n.2421C>A c.2234C>A (p.Ala745Asp) n.2437C>A c.87C>A n.2472C>A c.630C>A c.-553+4671G>T (n.-553+4671G>T) c.2390C>A (p.Ala797Asp) c.2294C>A (p.Ala765Asp) c.-45C>A (n.-45C>A) c.2417C>A (p.Ala806Asp) c.2321C>A (p.Ala774Asp) c.2261C>A (p.Ala754Asp) c.2165C>A (p.Ala722Asp) | dbSNP |
6 | g.43048180C>A | CA364218273 | CUL7,KLC4 | c.2137G>T (p.Ala713Ser) n.2420G>T c.2233G>T (p.Ala745Ser) n.2436G>T c.86G>T n.2471G>T c.629G>T c.-553+4672C>A (n.-553+4672C>A) c.2389G>T (p.Ala797Ser) c.2293G>T (p.Ala765Ser) c.-46G>T (n.-46G>T) c.2416G>T (p.Ala806Ser) c.2320G>T (p.Ala774Ser) c.2260G>T (p.Ala754Ser) c.2164G>T (p.Ala722Ser) | |
6 | g.43048180C>G | CA364218271 | CUL7,KLC4 | c.2137G>C (p.Ala713Pro) n.2420G>C c.2233G>C (p.Ala745Pro) n.2436G>C c.86G>C n.2471G>C c.629G>C c.-553+4672C>G (n.-553+4672C>G) c.2389G>C (p.Ala797Pro) c.2293G>C (p.Ala765Pro) c.-46G>C (n.-46G>C) c.2416G>C (p.Ala806Pro) c.2320G>C (p.Ala774Pro) c.2260G>C (p.Ala754Pro) c.2164G>C (p.Ala722Pro) | |
6 | g.43048180C>T | CA364218268 | CUL7,KLC4 | c.2137G>A (p.Ala713Thr) n.2420G>A c.2233G>A (p.Ala745Thr) n.2436G>A c.86G>A n.2471G>A c.629G>A c.-553+4672C>T (n.-553+4672C>T) c.2389G>A (p.Ala797Thr) c.2293G>A (p.Ala765Thr) c.-46G>A (n.-46G>A) c.2416G>A (p.Ala806Thr) c.2320G>A (p.Ala774Thr) c.2260G>A (p.Ala754Thr) c.2164G>A (p.Ala722Thr) | |
6 | g.43048180_43048188delinsCCATGCAGG | CA1624357235 | CUL7,KLC4 | c.2129_2137delinsCCTGCATGG (p.Ala710=) n.2412_2420delinsCCTGCATGG c.2225_2233delinsCCTGCATGG (p.Ala742=) n.2428_2436delinsCCTGCATGG c.78_86delinsCCTGCATGG n.2463_2471delinsCCTGCATGG c.621_629delinsCCTGCATGG c.-553+4672_-553+4680delinsCCATGCAGG (n.-553+4672_-553+4680delinsCCATGCAGG) c.2381_2389delinsCCTGCATGG (p.Ala794=) c.2285_2293delinsCCTGCATGG (p.Ala762=) c.-54_-46delinsCCTGCATGG (n.-54_-46delinsCCTGCATGG) c.2408_2416delinsCCTGCATGG (p.Ala803=) c.2312_2320delinsCCTGCATGG (p.Ala771=) c.2252_2260delinsCCTGCATGG (p.Ala751=) c.2156_2164delinsCCTGCATGG (p.Ala719=) | |
6 | g.43048181C>A | CA364218276 | CUL7,KLC4 | c.2136G>T (p.Met712Ile) n.2419G>T c.2232G>T (p.Met744Ile) n.2435G>T c.85G>T n.2470G>T c.628G>T c.-553+4673C>A (n.-553+4673C>A) c.2388G>T (p.Met796Ile) c.2292G>T (p.Met764Ile) c.-47G>T (n.-47G>T) c.2415G>T (p.Met805Ile) c.2319G>T (p.Met773Ile) c.2259G>T (p.Met753Ile) c.2163G>T (p.Met721Ile) | |
6 | g.43048181C= | CA1624357237 | CUL7,KLC4 | c.2136G= (p.Met712=) n.2419G= c.2232G= (p.Met744=) n.2435G= c.85G= n.2470G= c.628G= c.-553+4673C= (n.-553+4673C=) c.2388G= (p.Met796=) c.2292G= (p.Met764=) c.-47G= (n.-47G=) c.2415G= (p.Met805=) c.2319G= (p.Met773=) c.2259G= (p.Met753=) c.2163G= (p.Met721=) | |
6 | g.43048181C>G | CA364218279 | CUL7,KLC4 | c.2136G>C (p.Met712Ile) n.2419G>C c.2232G>C (p.Met744Ile) n.2435G>C c.85G>C n.2470G>C c.628G>C c.-553+4673C>G (n.-553+4673C>G) c.2388G>C (p.Met796Ile) c.2292G>C (p.Met764Ile) c.-47G>C (n.-47G>C) c.2415G>C (p.Met805Ile) c.2319G>C (p.Met773Ile) c.2259G>C (p.Met753Ile) c.2163G>C (p.Met721Ile) | |
6 | g.43048181C>T | CA364218281 | CUL7,KLC4 | c.2136G>A (p.Met712Ile) n.2419G>A c.2232G>A (p.Met744Ile) n.2435G>A c.85G>A n.2470G>A c.628G>A c.-553+4673C>T (n.-553+4673C>T) c.2388G>A (p.Met796Ile) c.2292G>A (p.Met764Ile) c.-47G>A (n.-47G>A) c.2415G>A (p.Met805Ile) c.2319G>A (p.Met773Ile) c.2259G>A (p.Met753Ile) c.2163G>A (p.Met721Ile) | dbSNP |
6 | g.43048184_43048191del | CA1624357236 | CUL7,KLC4 | c.2129_2136del (p.Ala710GlyfsTer9) n.2412_2419del c.2225_2232del (p.Ala742GlyfsTer9) n.2428_2435del c.78_85del n.2463_2470del c.621_628del c.-553+4676_-553+4683del (n.-553+4676_-553+4683del) c.2381_2388del (p.Ala794GlyfsTer9) c.2285_2292del (p.Ala762GlyfsTer9) c.-54_-47del (n.-54_-47del) c.2408_2415del (p.Ala803GlyfsTer9) c.2312_2319del (p.Ala771GlyfsTer9) c.2252_2259del (p.Ala751GlyfsTer9) c.2156_2163del (p.Ala719GlyfsTer9) | dbSNP |
6 | g.43048182A>C | CA364218284 | CUL7,KLC4 | c.2135T>G (p.Met712Arg) n.2418T>G c.2231T>G (p.Met744Arg) n.2434T>G c.84T>G n.2469T>G c.627T>G c.-553+4674A>C (n.-553+4674A>C) c.2387T>G (p.Met796Arg) c.2291T>G (p.Met764Arg) c.-48T>G (n.-48T>G) c.2414T>G (p.Met805Arg) c.2318T>G (p.Met773Arg) c.2258T>G (p.Met753Arg) c.2162T>G (p.Met721Arg) | |
6 | g.43048182A>G | CA364218285 | CUL7,KLC4 | c.2135T>C (p.Met712Thr) n.2418T>C c.2231T>C (p.Met744Thr) n.2434T>C c.84T>C n.2469T>C c.627T>C c.-553+4674A>G (n.-553+4674A>G) c.2387T>C (p.Met796Thr) c.2291T>C (p.Met764Thr) c.-48T>C (n.-48T>C) c.2414T>C (p.Met805Thr) c.2318T>C (p.Met773Thr) c.2258T>C (p.Met753Thr) c.2162T>C (p.Met721Thr) | |
6 | g.43048182A>T | CA364218287 | CUL7,KLC4 | c.2135T>A (p.Met712Lys) n.2418T>A c.2231T>A (p.Met744Lys) n.2434T>A c.84T>A n.2469T>A c.627T>A c.-553+4674A>T (n.-553+4674A>T) c.2387T>A (p.Met796Lys) c.2291T>A (p.Met764Lys) c.-48T>A (n.-48T>A) c.2414T>A (p.Met805Lys) c.2318T>A (p.Met773Lys) c.2258T>A (p.Met753Lys) c.2162T>A (p.Met721Lys) | |
6 | g.43048183T>A | CA364218288 | CUL7,KLC4 | c.2134A>T (p.Met712Leu) n.2417A>T c.2230A>T (p.Met744Leu) n.2433A>T c.83A>T n.2468A>T c.626A>T c.-553+4675T>A (n.-553+4675T>A) c.2386A>T (p.Met796Leu) c.2290A>T (p.Met764Leu) c.-49A>T (n.-49A>T) c.2413A>T (p.Met805Leu) c.2317A>T (p.Met773Leu) c.2257A>T (p.Met753Leu) c.2161A>T (p.Met721Leu) | gnomAD v4 |
6 | g.43048183T>C | CA364218290 | CUL7,KLC4 | c.2134A>G (p.Met712Val) n.2417A>G c.2230A>G (p.Met744Val) n.2433A>G c.83A>G n.2468A>G c.626A>G c.-553+4675T>C (n.-553+4675T>C) c.2386A>G (p.Met796Val) c.2290A>G (p.Met764Val) c.-49A>G (n.-49A>G) c.2413A>G (p.Met805Val) c.2317A>G (p.Met773Val) c.2257A>G (p.Met753Val) c.2161A>G (p.Met721Val) | |
6 | g.43048183T>G | CA138249111 | CUL7,KLC4 | c.2134A>C (p.Met712Leu) n.2417A>C c.2230A>C (p.Met744Leu) n.2433A>C c.83A>C n.2468A>C c.626A>C c.-553+4675T>G (n.-553+4675T>G) c.2386A>C (p.Met796Leu) c.2290A>C (p.Met764Leu) c.-49A>C (n.-49A>C) c.2413A>C (p.Met805Leu) c.2317A>C (p.Met773Leu) c.2257A>C (p.Met753Leu) c.2161A>C (p.Met721Leu) | dbSNP gnomAD v4 |
6 | g.43048183T= | CA1624357238 | CUL7,KLC4 | c.2134A= (p.Met712=) n.2417A= c.2230A= (p.Met744=) n.2433A= c.83A= n.2468A= c.626A= c.-553+4675T= (n.-553+4675T=) c.2386A= (p.Met796=) c.2290A= (p.Met764=) c.-49A= (n.-49A=) c.2413A= (p.Met805=) c.2317A= (p.Met773=) c.2257A= (p.Met753=) c.2161A= (p.Met721=) | |
6 | g.43048184G>A | CA450261537 | CUL7,KLC4 | c.2133C>T (p.Cys711=) n.2416C>T c.2229C>T (p.Cys743=) n.2432C>T c.82C>T n.2467C>T c.625C>T c.-553+4676G>A (n.-553+4676G>A) c.2385C>T (p.Cys795=) c.2289C>T (p.Cys763=) c.-50C>T (n.-50C>T) c.2412C>T (p.Cys804=) c.2316C>T (p.Cys772=) c.2256C>T (p.Cys752=) c.2160C>T (p.Cys720=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
6 | g.43048184G>C | CA364218295 | CUL7,KLC4 | c.2133C>G (p.Cys711Trp) n.2416C>G c.2229C>G (p.Cys743Trp) n.2432C>G c.82C>G n.2467C>G c.625C>G c.-553+4676G>C (n.-553+4676G>C) c.2385C>G (p.Cys795Trp) c.2289C>G (p.Cys763Trp) c.-50C>G (n.-50C>G) c.2412C>G (p.Cys804Trp) c.2316C>G (p.Cys772Trp) c.2256C>G (p.Cys752Trp) c.2160C>G (p.Cys720Trp) | |
6 | g.43048184G= | CA1624357239 | CUL7,KLC4 | c.2133C= (p.Cys711=) n.2416C= c.2229C= (p.Cys743=) n.2432C= c.82C= n.2467C= c.625C= c.-553+4676G= (n.-553+4676G=) c.2385C= (p.Cys795=) c.2289C= (p.Cys763=) c.-50C= (n.-50C=) c.2412C= (p.Cys804=) c.2316C= (p.Cys772=) c.2256C= (p.Cys752=) c.2160C= (p.Cys720=) | |
6 | g.43048184G>T | CA364218298 | CUL7,KLC4 | c.2133C>A (p.Cys711Ter) n.2416C>A c.2229C>A (p.Cys743Ter) n.2432C>A c.82C>A n.2467C>A c.625C>A c.-553+4676G>T (n.-553+4676G>T) c.2385C>A (p.Cys795Ter) c.2289C>A (p.Cys763Ter) c.-50C>A (n.-50C>A) c.2412C>A (p.Cys804Ter) c.2316C>A (p.Cys772Ter) c.2256C>A (p.Cys752Ter) c.2160C>A (p.Cys720Ter) | |
6 | g.43048185C>A | CA364218307 | CUL7,KLC4 | c.2132G>T (p.Cys711Phe) n.2415G>T c.2228G>T (p.Cys743Phe) n.2431G>T c.81G>T n.2466G>T c.624G>T c.-553+4677C>A (n.-553+4677C>A) c.2384G>T (p.Cys795Phe) c.2288G>T (p.Cys763Phe) c.-51G>T (n.-51G>T) c.2411G>T (p.Cys804Phe) c.2315G>T (p.Cys772Phe) c.2255G>T (p.Cys752Phe) c.2159G>T (p.Cys720Phe) | dbSNP gnomAD v4 |
6 | g.43048185C= | CA1624357240 | CUL7,KLC4 | c.2132G= (p.Cys711=) n.2415G= c.2228G= (p.Cys743=) n.2431G= c.81G= n.2466G= c.624G= c.-553+4677C= (n.-553+4677C=) c.2384G= (p.Cys795=) c.2288G= (p.Cys763=) c.-51G= (n.-51G=) c.2411G= (p.Cys804=) c.2315G= (p.Cys772=) c.2255G= (p.Cys752=) c.2159G= (p.Cys720=) | |
6 | g.43048185C>G | CA364218305 | CUL7,KLC4 | c.2132G>C (p.Cys711Ser) n.2415G>C c.2228G>C (p.Cys743Ser) n.2431G>C c.81G>C n.2466G>C c.624G>C c.-553+4677C>G (n.-553+4677C>G) c.2384G>C (p.Cys795Ser) c.2288G>C (p.Cys763Ser) c.-51G>C (n.-51G>C) c.2411G>C (p.Cys804Ser) c.2315G>C (p.Cys772Ser) c.2255G>C (p.Cys752Ser) c.2159G>C (p.Cys720Ser) | |
6 | g.43048185C>T | CA364218303 | CUL7,KLC4 | c.2132G>A (p.Cys711Tyr) n.2415G>A c.2228G>A (p.Cys743Tyr) n.2431G>A c.81G>A n.2466G>A c.624G>A c.-553+4677C>T (n.-553+4677C>T) c.2384G>A (p.Cys795Tyr) c.2288G>A (p.Cys763Tyr) c.-51G>A (n.-51G>A) c.2411G>A (p.Cys804Tyr) c.2315G>A (p.Cys772Tyr) c.2255G>A (p.Cys752Tyr) c.2159G>A (p.Cys720Tyr) | gnomAD v4 |
6 | g.43048185dup | CA3813979 | CUL7,KLC4 | c.2132dup (p.Cys711TrpfsTer11) n.2415dup c.2228dup (p.Cys743TrpfsTer11) n.2431dup c.81dup n.2466dup c.624dup c.-553+4677dup (n.-553+4677dup) c.2384dup (p.Cys795TrpfsTer11) c.2288dup (p.Cys763TrpfsTer11) c.-51dup (n.-51dup) c.2411dup (p.Cys804TrpfsTer11) c.2315dup (p.Cys772TrpfsTer11) c.2255dup (p.Cys752TrpfsTer11) c.2159dup (p.Cys720TrpfsTer11) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048185_43048187delinsCAG | CA1624357241 | CUL7,KLC4 | c.2130_2132delinsCTG (p.Ala710=) n.2413_2415delinsCTG c.2226_2228delinsCTG (p.Ala742=) n.2429_2431delinsCTG c.79_81delinsCTG n.2464_2466delinsCTG c.622_624delinsCTG c.-553+4677_-553+4679delinsCAG (n.-553+4677_-553+4679delinsCAG) c.2382_2384delinsCTG (p.Ala794=) c.2286_2288delinsCTG (p.Ala762=) c.-53_-51delinsCTG (n.-53_-51delinsCTG) c.2409_2411delinsCTG (p.Ala803=) c.2313_2315delinsCTG (p.Ala771=) c.2253_2255delinsCTG (p.Ala751=) c.2157_2159delinsCTG (p.Ala719=) | |
6 | g.43048186A= | CA1624357243 | CUL7,KLC4 | c.2131T= (p.Cys711=) n.2414T= c.2227T= (p.Cys743=) n.2430T= c.80T= n.2465T= c.623T= c.-553+4678A= (n.-553+4678A=) c.2383T= (p.Cys795=) c.2287T= (p.Cys763=) c.-52T= (n.-52T=) c.2410T= (p.Cys804=) c.2314T= (p.Cys772=) c.2254T= (p.Cys752=) c.2158T= (p.Cys720=) | |
6 | g.43048186A>C | CA364218310 | CUL7,KLC4 | c.2131T>G (p.Cys711Gly) n.2414T>G c.2227T>G (p.Cys743Gly) n.2430T>G c.80T>G n.2465T>G c.623T>G c.-553+4678A>C (n.-553+4678A>C) c.2383T>G (p.Cys795Gly) c.2287T>G (p.Cys763Gly) c.-52T>G (n.-52T>G) c.2410T>G (p.Cys804Gly) c.2314T>G (p.Cys772Gly) c.2254T>G (p.Cys752Gly) c.2158T>G (p.Cys720Gly) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048186A>G | CA364218313 | CUL7,KLC4 | c.2131T>C (p.Cys711Arg) n.2414T>C c.2227T>C (p.Cys743Arg) n.2430T>C c.80T>C n.2465T>C c.623T>C c.-553+4678A>G (n.-553+4678A>G) c.2383T>C (p.Cys795Arg) c.2287T>C (p.Cys763Arg) c.-52T>C (n.-52T>C) c.2410T>C (p.Cys804Arg) c.2314T>C (p.Cys772Arg) c.2254T>C (p.Cys752Arg) c.2158T>C (p.Cys720Arg) | |
6 | g.43048186A>T | CA364218315 | CUL7,KLC4 | c.2131T>A (p.Cys711Ser) n.2414T>A c.2227T>A (p.Cys743Ser) n.2430T>A c.80T>A n.2465T>A c.623T>A c.-553+4678A>T (n.-553+4678A>T) c.2383T>A (p.Cys795Ser) c.2287T>A (p.Cys763Ser) c.-52T>A (n.-52T>A) c.2410T>A (p.Cys804Ser) c.2314T>A (p.Cys772Ser) c.2254T>A (p.Cys752Ser) c.2158T>A (p.Cys720Ser) | |
6 | g.43048186_43048187delinsAG | CA1624357242 | CUL7,KLC4 | c.2130_2131delinsCT (p.Ala710=) n.2413_2414delinsCT c.2226_2227delinsCT (p.Ala742=) n.2429_2430delinsCT c.79_80delinsCT n.2464_2465delinsCT c.622_623delinsCT c.-553+4678_-553+4679delinsAG (n.-553+4678_-553+4679delinsAG) c.2382_2383delinsCT (p.Ala794=) c.2286_2287delinsCT (p.Ala762=) c.-53_-52delinsCT (n.-53_-52delinsCT) c.2409_2410delinsCT (p.Ala803=) c.2313_2314delinsCT (p.Ala771=) c.2253_2254delinsCT (p.Ala751=) c.2157_2158delinsCT (p.Ala719=) | |
6 | g.43048186_43048187delinsCAGGCA | CA658657594 | CUL7,KLC4 | c.2130_2131delinsTGCCTG (p.Cys711AlafsTer12) n.2413_2414delinsTGCCTG c.2226_2227delinsTGCCTG (p.Cys743AlafsTer12) n.2429_2430delinsTGCCTG c.79_80delinsTGCCTG n.2464_2465delinsTGCCTG c.622_623delinsTGCCTG c.-553+4678_-553+4679delinsCAGGCA (n.-553+4678_-553+4679delinsCAGGCA) c.2382_2383delinsTGCCTG (p.Cys795AlafsTer12) c.2286_2287delinsTGCCTG (p.Cys763AlafsTer12) c.-53_-52delinsTGCCTG (n.-53_-52delinsTGCCTG) c.2409_2410delinsTGCCTG (p.Cys804AlafsTer12) c.2313_2314delinsTGCCTG (p.Cys772AlafsTer12) c.2253_2254delinsTGCCTG (p.Cys752AlafsTer12) c.2157_2158delinsTGCCTG (p.Cys720AlafsTer12) | ClinVar dbSNP |
6 | g.43048187G>A | CA450261543 | CUL7,KLC4 | c.2130C>T (p.Ala710=) n.2413C>T c.2226C>T (p.Ala742=) n.2429C>T c.79C>T n.2464C>T c.622C>T c.-553+4679G>A (n.-553+4679G>A) c.2382C>T (p.Ala794=) c.2286C>T (p.Ala762=) c.-53C>T (n.-53C>T) c.2409C>T (p.Ala803=) c.2313C>T (p.Ala771=) c.2253C>T (p.Ala751=) c.2157C>T (p.Ala719=) | |
6 | g.43048187G>C | CA450261542 | CUL7,KLC4 | c.2130C>G (p.Ala710=) n.2413C>G c.2226C>G (p.Ala742=) n.2429C>G c.79C>G n.2464C>G c.622C>G c.-553+4679G>C (n.-553+4679G>C) c.2382C>G (p.Ala794=) c.2286C>G (p.Ala762=) c.-53C>G (n.-53C>G) c.2409C>G (p.Ala803=) c.2313C>G (p.Ala771=) c.2253C>G (p.Ala751=) c.2157C>G (p.Ala719=) | |
6 | g.43048187G= | CA1624357244 | CUL7,KLC4 | c.2130C= (p.Ala710=) n.2413C= c.2226C= (p.Ala742=) n.2429C= c.79C= n.2464C= c.622C= c.-553+4679G= (n.-553+4679G=) c.2382C= (p.Ala794=) c.2286C= (p.Ala762=) c.-53C= (n.-53C=) c.2409C= (p.Ala803=) c.2313C= (p.Ala771=) c.2253C= (p.Ala751=) c.2157C= (p.Ala719=) | |
6 | g.43048187G>T | CA450261540 | CUL7,KLC4 | c.2130C>A (p.Ala710=) n.2413C>A c.2226C>A (p.Ala742=) n.2429C>A c.79C>A n.2464C>A c.622C>A c.-553+4679G>T (n.-553+4679G>T) c.2382C>A (p.Ala794=) c.2286C>A (p.Ala762=) c.-53C>A (n.-53C>A) c.2409C>A (p.Ala803=) c.2313C>A (p.Ala771=) c.2253C>A (p.Ala751=) c.2157C>A (p.Ala719=) | |
6 | g.43048188del | CA138249115 | CUL7,KLC4 | c.2130del (p.Cys711AlafsTer18) n.2413del c.2226del (p.Cys743AlafsTer14) n.2429del c.79del n.2464del c.2226del (p.Cys743AlafsTer18) c.622del c.-553+4680del (n.-553+4680del) c.2382del (p.Cys795AlafsTer18) c.2286del (p.Cys763AlafsTer18) c.-53del (n.-53del) c.2409del (p.Cys804AlafsTer18) c.2313del (p.Cys772AlafsTer18) c.2253del (p.Cys752AlafsTer18) c.2157del (p.Cys720AlafsTer18) | dbSNP gnomAD v4 |
6 | g.43048188G>A | CA364218325 | CUL7,KLC4 | c.2129C>T (p.Ala710Val) n.2412C>T c.2225C>T (p.Ala742Val) n.2428C>T c.78C>T n.2463C>T c.621C>T c.-553+4680G>A (n.-553+4680G>A) c.2381C>T (p.Ala794Val) c.2285C>T (p.Ala762Val) c.-54C>T (n.-54C>T) c.2408C>T (p.Ala803Val) c.2312C>T (p.Ala771Val) c.2252C>T (p.Ala751Val) c.2156C>T (p.Ala719Val) | |
6 | g.43048188G>C | CA364218327 | CUL7,KLC4 | c.2129C>G (p.Ala710Gly) n.2412C>G c.2225C>G (p.Ala742Gly) n.2428C>G c.78C>G n.2463C>G c.621C>G c.-553+4680G>C (n.-553+4680G>C) c.2381C>G (p.Ala794Gly) c.2285C>G (p.Ala762Gly) c.-54C>G (n.-54C>G) c.2408C>G (p.Ala803Gly) c.2312C>G (p.Ala771Gly) c.2252C>G (p.Ala751Gly) c.2156C>G (p.Ala719Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048188G= | CA1624357245 | CUL7,KLC4 | c.2129C= (p.Ala710=) n.2412C= c.2225C= (p.Ala742=) n.2428C= c.78C= n.2463C= c.621C= c.-553+4680G= (n.-553+4680G=) c.2381C= (p.Ala794=) c.2285C= (p.Ala762=) c.-54C= (n.-54C=) c.2408C= (p.Ala803=) c.2312C= (p.Ala771=) c.2252C= (p.Ala751=) c.2156C= (p.Ala719=) | |
6 | g.43048188G>T | CA364218330 | CUL7,KLC4 | c.2129C>A (p.Ala710Asp) n.2412C>A c.2225C>A (p.Ala742Asp) n.2428C>A c.78C>A n.2463C>A c.621C>A c.-553+4680G>T (n.-553+4680G>T) c.2381C>A (p.Ala794Asp) c.2285C>A (p.Ala762Asp) c.-54C>A (n.-54C>A) c.2408C>A (p.Ala803Asp) c.2312C>A (p.Ala771Asp) c.2252C>A (p.Ala751Asp) c.2156C>A (p.Ala719Asp) | |
6 | g.43048188_43048190dup | CA3813980 | CUL7,KLC4 | c.2127_2129dup (p.Ala710_Cys711insAla) n.2410_2412dup c.2223_2225dup (p.Ala742_Cys743insAla) n.2426_2428dup c.76_78dup n.2461_2463dup c.619_621dup c.-553+4680_-553+4682dup (n.-553+4680_-553+4682dup) c.2379_2381dup (p.Ala794_Cys795insAla) c.2283_2285dup (p.Ala762_Cys763insAla) c.-56_-54dup (n.-56_-54dup) c.2406_2408dup (p.Ala803_Cys804insAla) c.2310_2312dup (p.Ala771_Cys772insAla) c.2250_2252dup (p.Ala751_Cys752insAla) c.2154_2156dup (p.Ala719_Cys720insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048189C>A | CA364218334 | CUL7,KLC4 | c.2128G>T (p.Ala710Ser) n.2411G>T c.2224G>T (p.Ala742Ser) n.2427G>T c.77G>T n.2462G>T c.620G>T c.-553+4681C>A (n.-553+4681C>A) c.2380G>T (p.Ala794Ser) c.2284G>T (p.Ala762Ser) c.-55G>T (n.-55G>T) c.2407G>T (p.Ala803Ser) c.2311G>T (p.Ala771Ser) c.2251G>T (p.Ala751Ser) c.2155G>T (p.Ala719Ser) | |
6 | g.43048189C>G | CA364218336 | CUL7,KLC4 | c.2128G>C (p.Ala710Pro) n.2411G>C c.2224G>C (p.Ala742Pro) n.2427G>C c.77G>C n.2462G>C c.620G>C c.-553+4681C>G (n.-553+4681C>G) c.2380G>C (p.Ala794Pro) c.2284G>C (p.Ala762Pro) c.-55G>C (n.-55G>C) c.2407G>C (p.Ala803Pro) c.2311G>C (p.Ala771Pro) c.2251G>C (p.Ala751Pro) c.2155G>C (p.Ala719Pro) | |
6 | g.43048189C>T | CA364218338 | CUL7,KLC4 | c.2128G>A (p.Ala710Thr) n.2411G>A c.2224G>A (p.Ala742Thr) n.2427G>A c.77G>A n.2462G>A c.620G>A c.-553+4681C>T (n.-553+4681C>T) c.2380G>A (p.Ala794Thr) c.2284G>A (p.Ala762Thr) c.-55G>A (n.-55G>A) c.2407G>A (p.Ala803Thr) c.2311G>A (p.Ala771Thr) c.2251G>A (p.Ala751Thr) c.2155G>A (p.Ala719Thr) | |
6 | g.43048190A>C | CA364218344 | CUL7,KLC4 | c.2127T>G (p.Asp709Glu) n.2410T>G c.2223T>G (p.Asp741Glu) n.2426T>G c.76T>G n.2461T>G c.619T>G c.-553+4682A>C (n.-553+4682A>C) c.2379T>G (p.Asp793Glu) c.2283T>G (p.Asp761Glu) c.-56T>G (n.-56T>G) c.2406T>G (p.Asp802Glu) c.2310T>G (p.Asp770Glu) c.2250T>G (p.Asp750Glu) c.2154T>G (p.Asp718Glu) | |
6 | g.43048190A>G | CA450261546 | CUL7,KLC4 | c.2127T>C (p.Asp709=) n.2410T>C c.2223T>C (p.Asp741=) n.2426T>C c.76T>C n.2461T>C c.619T>C c.-553+4682A>G (n.-553+4682A>G) c.2379T>C (p.Asp793=) c.2283T>C (p.Asp761=) c.-56T>C (n.-56T>C) c.2406T>C (p.Asp802=) c.2310T>C (p.Asp770=) c.2250T>C (p.Asp750=) c.2154T>C (p.Asp718=) | |
6 | g.43048190A>T | CA364218342 | CUL7,KLC4 | c.2127T>A (p.Asp709Glu) n.2410T>A c.2223T>A (p.Asp741Glu) n.2426T>A c.76T>A n.2461T>A c.619T>A c.-553+4682A>T (n.-553+4682A>T) c.2379T>A (p.Asp793Glu) c.2283T>A (p.Asp761Glu) c.-56T>A (n.-56T>A) c.2406T>A (p.Asp802Glu) c.2310T>A (p.Asp770Glu) c.2250T>A (p.Asp750Glu) c.2154T>A (p.Asp718Glu) | |
6 | g.43048191T>A | CA3813981 | CUL7,KLC4 | c.2126A>T (p.Asp709Val) n.2409A>T c.2222A>T (p.Asp741Val) n.2425A>T c.75A>T n.2460A>T c.618A>T c.-553+4683T>A (n.-553+4683T>A) c.2378A>T (p.Asp793Val) c.2282A>T (p.Asp761Val) c.-57A>T (n.-57A>T) c.2405A>T (p.Asp802Val) c.2309A>T (p.Asp770Val) c.2249A>T (p.Asp750Val) c.2153A>T (p.Asp718Val) | dbSNP ExAC |
6 | g.43048191T>C | CA364218347 | CUL7,KLC4 | c.2126A>G (p.Asp709Gly) n.2409A>G c.2222A>G (p.Asp741Gly) n.2425A>G c.75A>G n.2460A>G c.618A>G c.-553+4683T>C (n.-553+4683T>C) c.2378A>G (p.Asp793Gly) c.2282A>G (p.Asp761Gly) c.-57A>G (n.-57A>G) c.2405A>G (p.Asp802Gly) c.2309A>G (p.Asp770Gly) c.2249A>G (p.Asp750Gly) c.2153A>G (p.Asp718Gly) | |
6 | g.43048191T>G | CA364218349 | CUL7,KLC4 | c.2126A>C (p.Asp709Ala) n.2409A>C c.2222A>C (p.Asp741Ala) n.2425A>C c.75A>C n.2460A>C c.618A>C c.-553+4683T>G (n.-553+4683T>G) c.2378A>C (p.Asp793Ala) c.2282A>C (p.Asp761Ala) c.-57A>C (n.-57A>C) c.2405A>C (p.Asp802Ala) c.2309A>C (p.Asp770Ala) c.2249A>C (p.Asp750Ala) c.2153A>C (p.Asp718Ala) | |
6 | g.43048191T= | CA1624357246 | CUL7,KLC4 | c.2126A= (p.Asp709=) n.2409A= c.2222A= (p.Asp741=) n.2425A= c.75A= n.2460A= c.618A= c.-553+4683T= (n.-553+4683T=) c.2378A= (p.Asp793=) c.2282A= (p.Asp761=) c.-57A= (n.-57A=) c.2405A= (p.Asp802=) c.2309A= (p.Asp770=) c.2249A= (p.Asp750=) c.2153A= (p.Asp718=) | |
6 | g.43048192C>A | CA364218352 | CUL7,KLC4 | c.2125G>T (p.Asp709Tyr) n.2408G>T c.2221G>T (p.Asp741Tyr) n.2424G>T c.74G>T n.2459G>T c.617G>T c.-553+4684C>A (n.-553+4684C>A) c.2377G>T (p.Asp793Tyr) c.2281G>T (p.Asp761Tyr) c.-58G>T (n.-58G>T) c.2404G>T (p.Asp802Tyr) c.2308G>T (p.Asp770Tyr) c.2248G>T (p.Asp750Tyr) c.2152G>T (p.Asp718Tyr) | dbSNP |
6 | g.43048192C= | CA1624357247 | CUL7,KLC4 | c.2125G= (p.Asp709=) n.2408G= c.2221G= (p.Asp741=) n.2424G= c.74G= n.2459G= c.617G= c.-553+4684C= (n.-553+4684C=) c.2377G= (p.Asp793=) c.2281G= (p.Asp761=) c.-58G= (n.-58G=) c.2404G= (p.Asp802=) c.2308G= (p.Asp770=) c.2248G= (p.Asp750=) c.2152G= (p.Asp718=) | |
6 | g.43048192C>G | CA364218355 | CUL7,KLC4 | c.2125G>C (p.Asp709His) n.2408G>C c.2221G>C (p.Asp741His) n.2424G>C c.74G>C n.2459G>C c.617G>C c.-553+4684C>G (n.-553+4684C>G) c.2377G>C (p.Asp793His) c.2281G>C (p.Asp761His) c.-58G>C (n.-58G>C) c.2404G>C (p.Asp802His) c.2308G>C (p.Asp770His) c.2248G>C (p.Asp750His) c.2152G>C (p.Asp718His) | |
6 | g.43048192C>T | CA364218356 | CUL7,KLC4 | c.2125G>A (p.Asp709Asn) n.2408G>A c.2221G>A (p.Asp741Asn) n.2424G>A c.74G>A n.2459G>A c.617G>A c.-553+4684C>T (n.-553+4684C>T) c.2377G>A (p.Asp793Asn) c.2281G>A (p.Asp761Asn) c.-58G>A (n.-58G>A) c.2404G>A (p.Asp802Asn) c.2308G>A (p.Asp770Asn) c.2248G>A (p.Asp750Asn) c.2152G>A (p.Asp718Asn) | |
6 | g.43048193dup | CA2842672729 | CUL7,KLC4 | c.2125dup (p.Asp709GlyfsTer13) n.2408dup c.2221dup (p.Asp741GlyfsTer13) n.2424dup c.74dup n.2459dup c.617dup c.-553+4685dup (n.-553+4685dup) c.2377dup (p.Asp793GlyfsTer13) c.2281dup (p.Asp761GlyfsTer13) c.-58dup (n.-58dup) c.2404dup (p.Asp802GlyfsTer13) c.2308dup (p.Asp770GlyfsTer13) c.2248dup (p.Asp750GlyfsTer13) c.2152dup (p.Asp718GlyfsTer13) | |
6 | g.43048193C>A | CA450261548 | CUL7,KLC4 | c.2124G>T (p.Val708=) n.2407G>T c.2220G>T (p.Val740=) n.2423G>T c.73G>T n.2458G>T c.616G>T c.-553+4685C>A (n.-553+4685C>A) c.2376G>T (p.Val792=) c.2280G>T (p.Val760=) c.-59G>T (n.-59G>T) c.2403G>T (p.Val801=) c.2307G>T (p.Val769=) c.2247G>T (p.Val749=) c.2151G>T (p.Val717=) | |
6 | g.43048193C>G | CA450261549 | CUL7,KLC4 | c.2124G>C (p.Val708=) n.2407G>C c.2220G>C (p.Val740=) n.2423G>C c.73G>C n.2458G>C c.616G>C c.-553+4685C>G (n.-553+4685C>G) c.2376G>C (p.Val792=) c.2280G>C (p.Val760=) c.-59G>C (n.-59G>C) c.2403G>C (p.Val801=) c.2307G>C (p.Val769=) c.2247G>C (p.Val749=) c.2151G>C (p.Val717=) | |
6 | g.43048193C>T | CA450261550 | CUL7,KLC4 | c.2124G>A (p.Val708=) n.2407G>A c.2220G>A (p.Val740=) n.2423G>A c.73G>A n.2458G>A c.616G>A c.-553+4685C>T (n.-553+4685C>T) c.2376G>A (p.Val792=) c.2280G>A (p.Val760=) c.-59G>A (n.-59G>A) c.2403G>A (p.Val801=) c.2307G>A (p.Val769=) c.2247G>A (p.Val749=) c.2151G>A (p.Val717=) | |
6 | g.43048194A>C | CA364218359 | CUL7,KLC4 | c.2123T>G (p.Val708Gly) n.2406T>G c.2219T>G (p.Val740Gly) n.2422T>G c.72T>G n.2457T>G c.615T>G c.-553+4686A>C (n.-553+4686A>C) c.2375T>G (p.Val792Gly) c.2279T>G (p.Val760Gly) c.-60T>G (n.-60T>G) c.2402T>G (p.Val801Gly) c.2306T>G (p.Val769Gly) c.2246T>G (p.Val749Gly) c.2150T>G (p.Val717Gly) | |
6 | g.43048194A>G | CA364218361 | CUL7,KLC4 | c.2123T>C (p.Val708Ala) n.2406T>C c.2219T>C (p.Val740Ala) n.2422T>C c.72T>C n.2457T>C c.615T>C c.-553+4686A>G (n.-553+4686A>G) c.2375T>C (p.Val792Ala) c.2279T>C (p.Val760Ala) c.-60T>C (n.-60T>C) c.2402T>C (p.Val801Ala) c.2306T>C (p.Val769Ala) c.2246T>C (p.Val749Ala) c.2150T>C (p.Val717Ala) | |
6 | g.43048194A>T | CA364218363 | CUL7,KLC4 | c.2123T>A (p.Val708Glu) n.2406T>A c.2219T>A (p.Val740Glu) n.2422T>A c.72T>A n.2457T>A c.615T>A c.-553+4686A>T (n.-553+4686A>T) c.2375T>A (p.Val792Glu) c.2279T>A (p.Val760Glu) c.-60T>A (n.-60T>A) c.2402T>A (p.Val801Glu) c.2306T>A (p.Val769Glu) c.2246T>A (p.Val749Glu) c.2150T>A (p.Val717Glu) | dbSNP |
6 | g.43048195C>A | CA364218365 | CUL7,KLC4 | c.2122G>T (p.Val708Leu) n.2405G>T c.2218G>T (p.Val740Leu) n.2421G>T c.71G>T n.2456G>T c.614G>T c.-553+4687C>A (n.-553+4687C>A) c.2374G>T (p.Val792Leu) c.2278G>T (p.Val760Leu) c.-61G>T (n.-61G>T) c.2401G>T (p.Val801Leu) c.2305G>T (p.Val769Leu) c.2245G>T (p.Val749Leu) c.2149G>T (p.Val717Leu) | |
6 | g.43048195C= | CA1624357248 | CUL7,KLC4 | c.2122G= (p.Val708=) n.2405G= c.2218G= (p.Val740=) n.2421G= c.71G= n.2456G= c.614G= c.-553+4687C= (n.-553+4687C=) c.2374G= (p.Val792=) c.2278G= (p.Val760=) c.-61G= (n.-61G=) c.2401G= (p.Val801=) c.2305G= (p.Val769=) c.2245G= (p.Val749=) c.2149G= (p.Val717=) | |
6 | g.43048195C>G | CA364218368 | CUL7,KLC4 | c.2122G>C (p.Val708Leu) n.2405G>C c.2218G>C (p.Val740Leu) n.2421G>C c.71G>C n.2456G>C c.614G>C c.-553+4687C>G (n.-553+4687C>G) c.2374G>C (p.Val792Leu) c.2278G>C (p.Val760Leu) c.-61G>C (n.-61G>C) c.2401G>C (p.Val801Leu) c.2305G>C (p.Val769Leu) c.2245G>C (p.Val749Leu) c.2149G>C (p.Val717Leu) | |
6 | g.43048195C>T | CA3813982 | CUL7,KLC4 | c.2122G>A (p.Val708Met) n.2405G>A c.2218G>A (p.Val740Met) n.2421G>A c.71G>A n.2456G>A c.614G>A c.-553+4687C>T (n.-553+4687C>T) c.2374G>A (p.Val792Met) c.2278G>A (p.Val760Met) c.-61G>A (n.-61G>A) c.2401G>A (p.Val801Met) c.2305G>A (p.Val769Met) c.2245G>A (p.Val749Met) c.2149G>A (p.Val717Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.43048196G>A | CA3813983 | CUL7,KLC4 | c.2121C>T (p.Ala707=) n.2404C>T c.2217C>T (p.Ala739=) n.2420C>T c.70C>T n.2455C>T c.613C>T c.-553+4688G>A (n.-553+4688G>A) c.2373C>T (p.Ala791=) c.2277C>T (p.Ala759=) c.-62C>T (n.-62C>T) c.2400C>T (p.Ala800=) c.2304C>T (p.Ala768=) c.2244C>T (p.Ala748=) c.2148C>T (p.Ala716=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048196G>C | CA450261555 | CUL7,KLC4 | c.2121C>G (p.Ala707=) n.2404C>G c.2217C>G (p.Ala739=) n.2420C>G c.70C>G n.2455C>G c.613C>G c.-553+4688G>C (n.-553+4688G>C) c.2373C>G (p.Ala791=) c.2277C>G (p.Ala759=) c.-62C>G (n.-62C>G) c.2400C>G (p.Ala800=) c.2304C>G (p.Ala768=) c.2244C>G (p.Ala748=) c.2148C>G (p.Ala716=) | |
6 | g.43048196G= | CA1624357249 | CUL7,KLC4 | c.2121C= (p.Ala707=) n.2404C= c.2217C= (p.Ala739=) n.2420C= c.70C= n.2455C= c.613C= c.-553+4688G= (n.-553+4688G=) c.2373C= (p.Ala791=) c.2277C= (p.Ala759=) c.-62C= (n.-62C=) c.2400C= (p.Ala800=) c.2304C= (p.Ala768=) c.2244C= (p.Ala748=) c.2148C= (p.Ala716=) | |
6 | g.43048196G>T | CA450261557 | CUL7,KLC4 | c.2121C>A (p.Ala707=) n.2404C>A c.2217C>A (p.Ala739=) n.2420C>A c.70C>A n.2455C>A c.613C>A c.-553+4688G>T (n.-553+4688G>T) c.2373C>A (p.Ala791=) c.2277C>A (p.Ala759=) c.-62C>A (n.-62C>A) c.2400C>A (p.Ala800=) c.2304C>A (p.Ala768=) c.2244C>A (p.Ala748=) c.2148C>A (p.Ala716=) | gnomAD v4 |
6 | g.43048197G>A | CA364218376 | CUL7,KLC4 | c.2120C>T (p.Ala707Val) n.2403C>T c.2216C>T (p.Ala739Val) n.2419C>T c.69C>T n.2454C>T c.612C>T c.-553+4689G>A (n.-553+4689G>A) c.2372C>T (p.Ala791Val) c.2276C>T (p.Ala759Val) c.-63C>T (n.-63C>T) c.2399C>T (p.Ala800Val) c.2303C>T (p.Ala768Val) c.2243C>T (p.Ala748Val) c.2147C>T (p.Ala716Val) | |
6 | g.43048197G>C | CA364218377 | CUL7,KLC4 | c.2120C>G (p.Ala707Gly) n.2403C>G c.2216C>G (p.Ala739Gly) n.2419C>G c.69C>G n.2454C>G c.612C>G c.-553+4689G>C (n.-553+4689G>C) c.2372C>G (p.Ala791Gly) c.2276C>G (p.Ala759Gly) c.-63C>G (n.-63C>G) c.2399C>G (p.Ala800Gly) c.2303C>G (p.Ala768Gly) c.2243C>G (p.Ala748Gly) c.2147C>G (p.Ala716Gly) | |
6 | g.43048197G>T | CA364218373 | CUL7,KLC4 | c.2120C>A (p.Ala707Asp) n.2403C>A c.2216C>A (p.Ala739Asp) n.2419C>A c.69C>A n.2454C>A c.612C>A c.-553+4689G>T (n.-553+4689G>T) c.2372C>A (p.Ala791Asp) c.2276C>A (p.Ala759Asp) c.-63C>A (n.-63C>A) c.2399C>A (p.Ala800Asp) c.2303C>A (p.Ala768Asp) c.2243C>A (p.Ala748Asp) c.2147C>A (p.Ala716Asp) | |
6 | g.43048198C>A | CA364218379 | CUL7,KLC4 | c.2119G>T (p.Ala707Ser) n.2402G>T c.2215G>T (p.Ala739Ser) n.2418G>T c.68G>T n.2453G>T c.611G>T c.-553+4690C>A (n.-553+4690C>A) c.2371G>T (p.Ala791Ser) c.2275G>T (p.Ala759Ser) c.-64G>T (n.-64G>T) c.2398G>T (p.Ala800Ser) c.2302G>T (p.Ala768Ser) c.2242G>T (p.Ala748Ser) c.2146G>T (p.Ala716Ser) | |
6 | g.43048198C>G | CA364218381 | CUL7,KLC4 | c.2119G>C (p.Ala707Pro) n.2402G>C c.2215G>C (p.Ala739Pro) n.2418G>C c.68G>C n.2453G>C c.611G>C c.-553+4690C>G (n.-553+4690C>G) c.2371G>C (p.Ala791Pro) c.2275G>C (p.Ala759Pro) c.-64G>C (n.-64G>C) c.2398G>C (p.Ala800Pro) c.2302G>C (p.Ala768Pro) c.2242G>C (p.Ala748Pro) c.2146G>C (p.Ala716Pro) | |
6 | g.43048198C>T | CA364218383 | CUL7,KLC4 | c.2119G>A (p.Ala707Thr) n.2402G>A c.2215G>A (p.Ala739Thr) n.2418G>A c.68G>A n.2453G>A c.611G>A c.-553+4690C>T (n.-553+4690C>T) c.2371G>A (p.Ala791Thr) c.2275G>A (p.Ala759Thr) c.-64G>A (n.-64G>A) c.2398G>A (p.Ala800Thr) c.2302G>A (p.Ala768Thr) c.2242G>A (p.Ala748Thr) c.2146G>A (p.Ala716Thr) | |
6 | g.43048199C>A | CA364218386 | CUL7,KLC4 | c.2118G>T (p.Glu706Asp) n.2401G>T c.2214G>T (p.Glu738Asp) n.2417G>T c.67G>T n.2452G>T c.610G>T c.-553+4691C>A (n.-553+4691C>A) c.2370G>T (p.Glu790Asp) c.2274G>T (p.Glu758Asp) c.-65G>T (n.-65G>T) c.2397G>T (p.Glu799Asp) c.2301G>T (p.Glu767Asp) c.2241G>T (p.Glu747Asp) c.2145G>T (p.Glu715Asp) | |
6 | g.43048199C>G | CA364218388 | CUL7,KLC4 | c.2118G>C (p.Glu706Asp) n.2401G>C c.2214G>C (p.Glu738Asp) n.2417G>C c.67G>C n.2452G>C c.610G>C c.-553+4691C>G (n.-553+4691C>G) c.2370G>C (p.Glu790Asp) c.2274G>C (p.Glu758Asp) c.-65G>C (n.-65G>C) c.2397G>C (p.Glu799Asp) c.2301G>C (p.Glu767Asp) c.2241G>C (p.Glu747Asp) c.2145G>C (p.Glu715Asp) | |
6 | g.43048199C>T | CA450261559 | CUL7,KLC4 | c.2118G>A (p.Glu706=) n.2401G>A c.2214G>A (p.Glu738=) n.2417G>A c.67G>A n.2452G>A c.610G>A c.-553+4691C>T (n.-553+4691C>T) c.2370G>A (p.Glu790=) c.2274G>A (p.Glu758=) c.-65G>A (n.-65G>A) c.2397G>A (p.Glu799=) c.2301G>A (p.Glu767=) c.2241G>A (p.Glu747=) c.2145G>A (p.Glu715=) | gnomAD v4 |
6 | g.43048200T>A | CA364218395 | CUL7,KLC4 | c.2117A>T (p.Glu706Val) n.2400A>T c.2213A>T (p.Glu738Val) n.2416A>T c.66A>T n.2451A>T c.609A>T c.-553+4692T>A (n.-553+4692T>A) c.2369A>T (p.Glu790Val) c.2273A>T (p.Glu758Val) c.-66A>T (n.-66A>T) c.2396A>T (p.Glu799Val) c.2300A>T (p.Glu767Val) c.2240A>T (p.Glu747Val) c.2144A>T (p.Glu715Val) | |
6 | g.43048200T>C | CA364218392 | CUL7,KLC4 | c.2117A>G (p.Glu706Gly) n.2400A>G c.2213A>G (p.Glu738Gly) n.2416A>G c.66A>G n.2451A>G c.609A>G c.-553+4692T>C (n.-553+4692T>C) c.2369A>G (p.Glu790Gly) c.2273A>G (p.Glu758Gly) c.-66A>G (n.-66A>G) c.2396A>G (p.Glu799Gly) c.2300A>G (p.Glu767Gly) c.2240A>G (p.Glu747Gly) c.2144A>G (p.Glu715Gly) | |
6 | g.43048200T>G | CA364218389 | CUL7,KLC4 | c.2117A>C (p.Glu706Ala) n.2400A>C c.2213A>C (p.Glu738Ala) n.2416A>C c.66A>C n.2451A>C c.609A>C c.-553+4692T>G (n.-553+4692T>G) c.2369A>C (p.Glu790Ala) c.2273A>C (p.Glu758Ala) c.-66A>C (n.-66A>C) c.2396A>C (p.Glu799Ala) c.2300A>C (p.Glu767Ala) c.2240A>C (p.Glu747Ala) c.2144A>C (p.Glu715Ala) | |
6 | g.43048201C>A | CA364218402 | CUL7,KLC4 | c.2116G>T (p.Glu706Ter) n.2399G>T c.2212G>T (p.Glu738Ter) n.2415G>T c.65G>T n.2450G>T c.608G>T c.-553+4693C>A (n.-553+4693C>A) c.2368G>T (p.Glu790Ter) c.2272G>T (p.Glu758Ter) c.-67G>T (n.-67G>T) c.2395G>T (p.Glu799Ter) c.2299G>T (p.Glu767Ter) c.2239G>T (p.Glu747Ter) c.2143G>T (p.Glu715Ter) | |
6 | g.43048201C= | CA1624357250 | CUL7,KLC4 | c.2116G= (p.Glu706=) n.2399G= c.2212G= (p.Glu738=) n.2415G= c.65G= n.2450G= c.608G= c.-553+4693C= (n.-553+4693C=) c.2368G= (p.Glu790=) c.2272G= (p.Glu758=) c.-67G= (n.-67G=) c.2395G= (p.Glu799=) c.2299G= (p.Glu767=) c.2239G= (p.Glu747=) c.2143G= (p.Glu715=) | |
6 | g.43048201C>G | CA364218404 | CUL7,KLC4 | c.2116G>C (p.Glu706Gln) n.2399G>C c.2212G>C (p.Glu738Gln) n.2415G>C c.65G>C n.2450G>C c.608G>C c.-553+4693C>G (n.-553+4693C>G) c.2368G>C (p.Glu790Gln) c.2272G>C (p.Glu758Gln) c.-67G>C (n.-67G>C) c.2395G>C (p.Glu799Gln) c.2299G>C (p.Glu767Gln) c.2239G>C (p.Glu747Gln) c.2143G>C (p.Glu715Gln) | |
6 | g.43048201C>T | CA3813984 | CUL7,KLC4 | c.2116G>A (p.Glu706Lys) n.2399G>A c.2212G>A (p.Glu738Lys) n.2415G>A c.65G>A n.2450G>A c.608G>A c.-553+4693C>T (n.-553+4693C>T) c.2368G>A (p.Glu790Lys) c.2272G>A (p.Glu758Lys) c.-67G>A (n.-67G>A) c.2395G>A (p.Glu799Lys) c.2299G>A (p.Glu767Lys) c.2239G>A (p.Glu747Lys) c.2143G>A (p.Glu715Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048202G>A | CA3813985 | CUL7,KLC4 | c.2115C>T (p.His705=) n.2398C>T c.2211C>T (p.His737=) n.2414C>T c.64C>T n.2449C>T c.607C>T c.-553+4694G>A (n.-553+4694G>A) c.2367C>T (p.His789=) c.2271C>T (p.His757=) c.-68C>T (n.-68C>T) c.2394C>T (p.His798=) c.2298C>T (p.His766=) c.2238C>T (p.His746=) c.2142C>T (p.His714=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048202G>C | CA364218411 | CUL7,KLC4 | c.2115C>G (p.His705Gln) n.2398C>G c.2211C>G (p.His737Gln) n.2414C>G c.64C>G n.2449C>G c.607C>G c.-553+4694G>C (n.-553+4694G>C) c.2367C>G (p.His789Gln) c.2271C>G (p.His757Gln) c.-68C>G (n.-68C>G) c.2394C>G (p.His798Gln) c.2298C>G (p.His766Gln) c.2238C>G (p.His746Gln) c.2142C>G (p.His714Gln) | |
6 | g.43048202G= | CA1624357251 | CUL7,KLC4 | c.2115C= (p.His705=) n.2398C= c.2211C= (p.His737=) n.2414C= c.64C= n.2449C= c.607C= c.-553+4694G= (n.-553+4694G=) c.2367C= (p.His789=) c.2271C= (p.His757=) c.-68C= (n.-68C=) c.2394C= (p.His798=) c.2298C= (p.His766=) c.2238C= (p.His746=) c.2142C= (p.His714=) | |
6 | g.43048202G>T | CA364218414 | CUL7,KLC4 | c.2115C>A (p.His705Gln) n.2398C>A c.2211C>A (p.His737Gln) n.2414C>A c.64C>A n.2449C>A c.607C>A c.-553+4694G>T (n.-553+4694G>T) c.2367C>A (p.His789Gln) c.2271C>A (p.His757Gln) c.-68C>A (n.-68C>A) c.2394C>A (p.His798Gln) c.2298C>A (p.His766Gln) c.2238C>A (p.His746Gln) c.2142C>A (p.His714Gln) | gnomAD v4 |
6 | g.43048203T>A | CA364218416 | CUL7,KLC4 | c.2114A>T (p.His705Leu) n.2397A>T c.2210A>T (p.His737Leu) n.2413A>T c.63A>T n.2448A>T c.606A>T c.-553+4695T>A (n.-553+4695T>A) c.2366A>T (p.His789Leu) c.2270A>T (p.His757Leu) c.-69A>T (n.-69A>T) c.2393A>T (p.His798Leu) c.2297A>T (p.His766Leu) c.2237A>T (p.His746Leu) c.2141A>T (p.His714Leu) | |
6 | g.43048203T>C | CA364218421 | CUL7,KLC4 | c.2114A>G (p.His705Arg) n.2397A>G c.2210A>G (p.His737Arg) n.2413A>G c.63A>G n.2448A>G c.606A>G c.-553+4695T>C (n.-553+4695T>C) c.2366A>G (p.His789Arg) c.2270A>G (p.His757Arg) c.-69A>G (n.-69A>G) c.2393A>G (p.His798Arg) c.2297A>G (p.His766Arg) c.2237A>G (p.His746Arg) c.2141A>G (p.His714Arg) | gnomAD v4 |
6 | g.43048203T>G | CA364218418 | CUL7,KLC4 | c.2114A>C (p.His705Pro) n.2397A>C c.2210A>C (p.His737Pro) n.2413A>C c.63A>C n.2448A>C c.606A>C c.-553+4695T>G (n.-553+4695T>G) c.2366A>C (p.His789Pro) c.2270A>C (p.His757Pro) c.-69A>C (n.-69A>C) c.2393A>C (p.His798Pro) c.2297A>C (p.His766Pro) c.2237A>C (p.His746Pro) c.2141A>C (p.His714Pro) | |
6 | g.43048204G>A | CA364218423 | CUL7,KLC4 | c.2113C>T (p.His705Tyr) n.2396C>T c.2209C>T (p.His737Tyr) n.2412C>T c.62C>T n.2447C>T c.605C>T c.-553+4696G>A (n.-553+4696G>A) c.2365C>T (p.His789Tyr) c.2269C>T (p.His757Tyr) c.-70C>T (n.-70C>T) c.2392C>T (p.His798Tyr) c.2296C>T (p.His766Tyr) c.2236C>T (p.His746Tyr) c.2140C>T (p.His714Tyr) | dbSNP |
6 | g.43048204G>C | CA364218425 | CUL7,KLC4 | c.2113C>G (p.His705Asp) n.2396C>G c.2209C>G (p.His737Asp) n.2412C>G c.62C>G n.2447C>G c.605C>G c.-553+4696G>C (n.-553+4696G>C) c.2365C>G (p.His789Asp) c.2269C>G (p.His757Asp) c.-70C>G (n.-70C>G) c.2392C>G (p.His798Asp) c.2296C>G (p.His766Asp) c.2236C>G (p.His746Asp) c.2140C>G (p.His714Asp) | |
6 | g.43048204G= | CA1624357252 | CUL7,KLC4 | c.2113C= (p.His705=) n.2396C= c.2209C= (p.His737=) n.2412C= c.62C= n.2447C= c.605C= c.-553+4696G= (n.-553+4696G=) c.2365C= (p.His789=) c.2269C= (p.His757=) c.-70C= (n.-70C=) c.2392C= (p.His798=) c.2296C= (p.His766=) c.2236C= (p.His746=) c.2140C= (p.His714=) | |
6 | g.43048204G>T | CA364218426 | CUL7,KLC4 | c.2113C>A (p.His705Asn) n.2396C>A c.2209C>A (p.His737Asn) n.2412C>A c.62C>A n.2447C>A c.605C>A c.-553+4696G>T (n.-553+4696G>T) c.2365C>A (p.His789Asn) c.2269C>A (p.His757Asn) c.-70C>A (n.-70C>A) c.2392C>A (p.His798Asn) c.2296C>A (p.His766Asn) c.2236C>A (p.His746Asn) c.2140C>A (p.His714Asn) | gnomAD v4 |
6 | g.43048205C>A | CA364218429 | CUL7,KLC4 | c.2112G>T (p.Trp704Cys) n.2395G>T c.2208G>T (p.Trp736Cys) n.2411G>T c.61G>T n.2446G>T c.604G>T c.-553+4697C>A (n.-553+4697C>A) c.2364G>T (p.Trp788Cys) c.2268G>T (p.Trp756Cys) c.-71G>T (n.-71G>T) c.2391G>T (p.Trp797Cys) c.2295G>T (p.Trp765Cys) c.2235G>T (p.Trp745Cys) c.2139G>T (p.Trp713Cys) | |
6 | g.43048205C= | CA1624357253 | CUL7,KLC4 | c.2112G= (p.Trp704=) n.2395G= c.2208G= (p.Trp736=) n.2411G= c.61G= n.2446G= c.604G= c.-553+4697C= (n.-553+4697C=) c.2364G= (p.Trp788=) c.2268G= (p.Trp756=) c.-71G= (n.-71G=) c.2391G= (p.Trp797=) c.2295G= (p.Trp765=) c.2235G= (p.Trp745=) c.2139G= (p.Trp713=) | |
6 | g.43048205C>G | CA364218432 | CUL7,KLC4 | c.2112G>C (p.Trp704Cys) n.2395G>C c.2208G>C (p.Trp736Cys) n.2411G>C c.61G>C n.2446G>C c.604G>C c.-553+4697C>G (n.-553+4697C>G) c.2364G>C (p.Trp788Cys) c.2268G>C (p.Trp756Cys) c.-71G>C (n.-71G>C) c.2391G>C (p.Trp797Cys) c.2295G>C (p.Trp765Cys) c.2235G>C (p.Trp745Cys) c.2139G>C (p.Trp713Cys) | |
6 | g.43048205C>T | CA364218434 | CUL7,KLC4 | c.2112G>A (p.Trp704Ter) n.2395G>A c.2208G>A (p.Trp736Ter) n.2411G>A c.61G>A n.2446G>A c.604G>A c.-553+4697C>T (n.-553+4697C>T) c.2364G>A (p.Trp788Ter) c.2268G>A (p.Trp756Ter) c.-71G>A (n.-71G>A) c.2391G>A (p.Trp797Ter) c.2295G>A (p.Trp765Ter) c.2235G>A (p.Trp745Ter) c.2139G>A (p.Trp713Ter) | ClinVar dbSNP |
6 | g.43048206C>A | CA364218437 | CUL7,KLC4 | c.2111G>T (p.Trp704Leu) n.2394G>T c.2207G>T (p.Trp736Leu) n.2410G>T c.60G>T n.2445G>T c.603G>T c.-553+4698C>A (n.-553+4698C>A) c.2363G>T (p.Trp788Leu) c.2267G>T (p.Trp756Leu) c.-72G>T (n.-72G>T) c.2390G>T (p.Trp797Leu) c.2294G>T (p.Trp765Leu) c.2234G>T (p.Trp745Leu) c.2138G>T (p.Trp713Leu) | |
6 | g.43048206C= | CA1624357254 | CUL7,KLC4 | c.2111G= (p.Trp704=) n.2394G= c.2207G= (p.Trp736=) n.2410G= c.60G= n.2445G= c.603G= c.-553+4698C= (n.-553+4698C=) c.2363G= (p.Trp788=) c.2267G= (p.Trp756=) c.-72G= (n.-72G=) c.2390G= (p.Trp797=) c.2294G= (p.Trp765=) c.2234G= (p.Trp745=) c.2138G= (p.Trp713=) | |
6 | g.43048206C>G | CA364218438 | CUL7,KLC4 | c.2111G>C (p.Trp704Ser) n.2394G>C c.2207G>C (p.Trp736Ser) n.2410G>C c.60G>C n.2445G>C c.603G>C c.-553+4698C>G (n.-553+4698C>G) c.2363G>C (p.Trp788Ser) c.2267G>C (p.Trp756Ser) c.-72G>C (n.-72G>C) c.2390G>C (p.Trp797Ser) c.2294G>C (p.Trp765Ser) c.2234G>C (p.Trp745Ser) c.2138G>C (p.Trp713Ser) | |
6 | g.43048206C>T | CA364218440 | CUL7,KLC4 | c.2111G>A (p.Trp704Ter) n.2394G>A c.2207G>A (p.Trp736Ter) n.2410G>A c.60G>A n.2445G>A c.603G>A c.-553+4698C>T (n.-553+4698C>T) c.2363G>A (p.Trp788Ter) c.2267G>A (p.Trp756Ter) c.-72G>A (n.-72G>A) c.2390G>A (p.Trp797Ter) c.2294G>A (p.Trp765Ter) c.2234G>A (p.Trp745Ter) c.2138G>A (p.Trp713Ter) | dbSNP gnomAD v4 |
6 | g.43048207A>C | CA364218442 | CUL7,KLC4 | c.2110T>G (p.Trp704Gly) n.2393T>G c.2206T>G (p.Trp736Gly) n.2409T>G c.59T>G n.2444T>G c.602T>G c.-553+4699A>C (n.-553+4699A>C) c.2362T>G (p.Trp788Gly) c.2266T>G (p.Trp756Gly) c.-73T>G (n.-73T>G) c.2389T>G (p.Trp797Gly) c.2293T>G (p.Trp765Gly) c.2233T>G (p.Trp745Gly) c.2137T>G (p.Trp713Gly) | |
6 | g.43048207A>G | CA364218445 | CUL7,KLC4 | c.2110T>C (p.Trp704Arg) n.2393T>C c.2206T>C (p.Trp736Arg) n.2409T>C c.59T>C n.2444T>C c.602T>C c.-553+4699A>G (n.-553+4699A>G) c.2362T>C (p.Trp788Arg) c.2266T>C (p.Trp756Arg) c.-73T>C (n.-73T>C) c.2389T>C (p.Trp797Arg) c.2293T>C (p.Trp765Arg) c.2233T>C (p.Trp745Arg) c.2137T>C (p.Trp713Arg) | |
6 | g.43048207A>T | CA364218446 | CUL7,KLC4 | c.2110T>A (p.Trp704Arg) n.2393T>A c.2206T>A (p.Trp736Arg) n.2409T>A c.59T>A n.2444T>A c.602T>A c.-553+4699A>T (n.-553+4699A>T) c.2362T>A (p.Trp788Arg) c.2266T>A (p.Trp756Arg) c.-73T>A (n.-73T>A) c.2389T>A (p.Trp797Arg) c.2293T>A (p.Trp765Arg) c.2233T>A (p.Trp745Arg) c.2137T>A (p.Trp713Arg) | |
6 | g.43048208G>A | CA450261563 | CUL7,KLC4 | c.2109C>T (p.Pro703=) n.2392C>T c.2205C>T (p.Pro735=) n.2408C>T c.58C>T n.2443C>T c.601C>T c.-553+4700G>A (n.-553+4700G>A) c.2361C>T (p.Pro787=) c.2265C>T (p.Pro755=) c.-74C>T (n.-74C>T) c.2388C>T (p.Pro796=) c.2292C>T (p.Pro764=) c.2232C>T (p.Pro744=) c.2136C>T (p.Pro712=) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.43048208G>C | CA450261569 | CUL7,KLC4 | c.2109C>G (p.Pro703=) n.2392C>G c.2205C>G (p.Pro735=) n.2408C>G c.58C>G n.2443C>G c.601C>G c.-553+4700G>C (n.-553+4700G>C) c.2361C>G (p.Pro787=) c.2265C>G (p.Pro755=) c.-74C>G (n.-74C>G) c.2388C>G (p.Pro796=) c.2292C>G (p.Pro764=) c.2232C>G (p.Pro744=) c.2136C>G (p.Pro712=) | |
6 | g.43048208G= | CA1624357255 | CUL7,KLC4 | c.2109C= (p.Pro703=) n.2392C= c.2205C= (p.Pro735=) n.2408C= c.58C= n.2443C= c.601C= c.-553+4700G= (n.-553+4700G=) c.2361C= (p.Pro787=) c.2265C= (p.Pro755=) c.-74C= (n.-74C=) c.2388C= (p.Pro796=) c.2292C= (p.Pro764=) c.2232C= (p.Pro744=) c.2136C= (p.Pro712=) | |
6 | g.43048208G>T | CA450261564 | CUL7,KLC4 | c.2109C>A (p.Pro703=) n.2392C>A c.2205C>A (p.Pro735=) n.2408C>A c.58C>A n.2443C>A c.601C>A c.-553+4700G>T (n.-553+4700G>T) c.2361C>A (p.Pro787=) c.2265C>A (p.Pro755=) c.-74C>A (n.-74C>A) c.2388C>A (p.Pro796=) c.2292C>A (p.Pro764=) c.2232C>A (p.Pro744=) c.2136C>A (p.Pro712=) | |
6 | g.43048211dup | CA2839079535 | CUL7,KLC4 | c.2109dup (p.Trp704LeufsTer18) n.2392dup c.2205dup (p.Trp736LeufsTer18) n.2408dup c.58dup n.2443dup c.601dup c.-553+4703dup (n.-553+4703dup) c.2361dup (p.Trp788LeufsTer18) c.2265dup (p.Trp756LeufsTer18) c.-74dup (n.-74dup) c.2388dup (p.Trp797LeufsTer18) c.2292dup (p.Trp765LeufsTer18) c.2232dup (p.Trp745LeufsTer18) c.2136dup (p.Trp713LeufsTer18) | |
6 | g.43048211del | CA2770820618 | CUL7,KLC4 | c.2109del (p.Trp704GlyfsTer25) n.2392del c.2205del (p.Trp736GlyfsTer21) n.2408del c.58del n.2443del c.2205del (p.Trp736GlyfsTer25) c.601del c.-553+4703del (n.-553+4703del) c.2361del (p.Trp788GlyfsTer25) c.2265del (p.Trp756GlyfsTer25) c.-74del (n.-74del) c.2388del (p.Trp797GlyfsTer25) c.2292del (p.Trp765GlyfsTer25) c.2232del (p.Trp745GlyfsTer25) c.2136del (p.Trp713GlyfsTer25) | |
6 | g.43048209G>A | CA364218451 | CUL7,KLC4 | c.2108C>T (p.Pro703Leu) n.2391C>T c.2204C>T (p.Pro735Leu) n.2407C>T c.57C>T n.2442C>T c.600C>T c.-553+4701G>A (n.-553+4701G>A) c.2360C>T (p.Pro787Leu) c.2264C>T (p.Pro755Leu) c.-75C>T (n.-75C>T) c.2387C>T (p.Pro796Leu) c.2291C>T (p.Pro764Leu) c.2231C>T (p.Pro744Leu) c.2135C>T (p.Pro712Leu) | |
6 | g.43048209G>C | CA364218456 | CUL7,KLC4 | c.2108C>G (p.Pro703Arg) n.2391C>G c.2204C>G (p.Pro735Arg) n.2407C>G c.57C>G n.2442C>G c.600C>G c.-553+4701G>C (n.-553+4701G>C) c.2360C>G (p.Pro787Arg) c.2264C>G (p.Pro755Arg) c.-75C>G (n.-75C>G) c.2387C>G (p.Pro796Arg) c.2291C>G (p.Pro764Arg) c.2231C>G (p.Pro744Arg) c.2135C>G (p.Pro712Arg) | |
6 | g.43048209G>T | CA364218453 | CUL7,KLC4 | c.2108C>A (p.Pro703His) n.2391C>A c.2204C>A (p.Pro735His) n.2407C>A c.57C>A n.2442C>A c.600C>A c.-553+4701G>T (n.-553+4701G>T) c.2360C>A (p.Pro787His) c.2264C>A (p.Pro755His) c.-75C>A (n.-75C>A) c.2387C>A (p.Pro796His) c.2291C>A (p.Pro764His) c.2231C>A (p.Pro744His) c.2135C>A (p.Pro712His) | |
6 | g.43048210G>A | CA364218459 | CUL7,KLC4 | c.2107C>T (p.Pro703Ser) n.2390C>T c.2203C>T (p.Pro735Ser) n.2406C>T c.56C>T n.2441C>T c.599C>T c.-553+4702G>A (n.-553+4702G>A) c.2359C>T (p.Pro787Ser) c.2263C>T (p.Pro755Ser) c.-76C>T (n.-76C>T) c.2386C>T (p.Pro796Ser) c.2290C>T (p.Pro764Ser) c.2230C>T (p.Pro744Ser) c.2134C>T (p.Pro712Ser) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048210G>C | CA364218461 | CUL7,KLC4 | c.2107C>G (p.Pro703Ala) n.2390C>G c.2203C>G (p.Pro735Ala) n.2406C>G c.56C>G n.2441C>G c.599C>G c.-553+4702G>C (n.-553+4702G>C) c.2359C>G (p.Pro787Ala) c.2263C>G (p.Pro755Ala) c.-76C>G (n.-76C>G) c.2386C>G (p.Pro796Ala) c.2290C>G (p.Pro764Ala) c.2230C>G (p.Pro744Ala) c.2134C>G (p.Pro712Ala) | |
6 | g.43048210G= | CA1624357256 | CUL7,KLC4 | c.2107C= (p.Pro703=) n.2390C= c.2203C= (p.Pro735=) n.2406C= c.56C= n.2441C= c.599C= c.-553+4702G= (n.-553+4702G=) c.2359C= (p.Pro787=) c.2263C= (p.Pro755=) c.-76C= (n.-76C=) c.2386C= (p.Pro796=) c.2290C= (p.Pro764=) c.2230C= (p.Pro744=) c.2134C= (p.Pro712=) | |
6 | g.43048210G>T | CA364218464 | CUL7,KLC4 | c.2107C>A (p.Pro703Thr) n.2390C>A c.2203C>A (p.Pro735Thr) n.2406C>A c.56C>A n.2441C>A c.599C>A c.-553+4702G>T (n.-553+4702G>T) c.2359C>A (p.Pro787Thr) c.2263C>A (p.Pro755Thr) c.-76C>A (n.-76C>A) c.2386C>A (p.Pro796Thr) c.2290C>A (p.Pro764Thr) c.2230C>A (p.Pro744Thr) c.2134C>A (p.Pro712Thr) | |
6 | g.43048211G>A | CA450261574 | CUL7,KLC4 | c.2106C>T (p.Leu702=) n.2389C>T c.2202C>T (p.Leu734=) n.2405C>T c.55C>T n.2440C>T c.598C>T c.-553+4703G>A (n.-553+4703G>A) c.2358C>T (p.Leu786=) c.2262C>T (p.Leu754=) c.-77C>T (n.-77C>T) c.2385C>T (p.Leu795=) c.2289C>T (p.Leu763=) c.2229C>T (p.Leu743=) c.2133C>T (p.Leu711=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048211G>C | CA450261575 | CUL7,KLC4 | c.2106C>G (p.Leu702=) n.2389C>G c.2202C>G (p.Leu734=) n.2405C>G c.55C>G n.2440C>G c.598C>G c.-553+4703G>C (n.-553+4703G>C) c.2358C>G (p.Leu786=) c.2262C>G (p.Leu754=) c.-77C>G (n.-77C>G) c.2385C>G (p.Leu795=) c.2289C>G (p.Leu763=) c.2229C>G (p.Leu743=) c.2133C>G (p.Leu711=) | |
6 | g.43048211G= | CA1624357257 | CUL7,KLC4 | c.2106C= (p.Leu702=) n.2389C= c.2202C= (p.Leu734=) n.2405C= c.55C= n.2440C= c.598C= c.-553+4703G= (n.-553+4703G=) c.2358C= (p.Leu786=) c.2262C= (p.Leu754=) c.-77C= (n.-77C=) c.2385C= (p.Leu795=) c.2289C= (p.Leu763=) c.2229C= (p.Leu743=) c.2133C= (p.Leu711=) | |
6 | g.43048211G>T | CA450261576 | CUL7,KLC4 | c.2106C>A (p.Leu702=) n.2389C>A c.2202C>A (p.Leu734=) n.2405C>A c.55C>A n.2440C>A c.598C>A c.-553+4703G>T (n.-553+4703G>T) c.2358C>A (p.Leu786=) c.2262C>A (p.Leu754=) c.-77C>A (n.-77C>A) c.2385C>A (p.Leu795=) c.2289C>A (p.Leu763=) c.2229C>A (p.Leu743=) c.2133C>A (p.Leu711=) | |
6 | g.43048212A>C | CA364218467 | CUL7,KLC4 | c.2105T>G (p.Leu702Arg) n.2388T>G c.2201T>G (p.Leu734Arg) n.2404T>G c.54T>G n.2439T>G c.597T>G c.-553+4704A>C (n.-553+4704A>C) c.2357T>G (p.Leu786Arg) c.2261T>G (p.Leu754Arg) c.-78T>G (n.-78T>G) c.2384T>G (p.Leu795Arg) c.2288T>G (p.Leu763Arg) c.2228T>G (p.Leu743Arg) c.2132T>G (p.Leu711Arg) | gnomAD v4 |
6 | g.43048212A>G | CA364218468 | CUL7,KLC4 | c.2105T>C (p.Leu702Pro) n.2388T>C c.2201T>C (p.Leu734Pro) n.2404T>C c.54T>C n.2439T>C c.597T>C c.-553+4704A>G (n.-553+4704A>G) c.2357T>C (p.Leu786Pro) c.2261T>C (p.Leu754Pro) c.-78T>C (n.-78T>C) c.2384T>C (p.Leu795Pro) c.2288T>C (p.Leu763Pro) c.2228T>C (p.Leu743Pro) c.2132T>C (p.Leu711Pro) | |
6 | g.43048212A>T | CA364218471 | CUL7,KLC4 | c.2105T>A (p.Leu702His) n.2388T>A c.2201T>A (p.Leu734His) n.2404T>A c.54T>A n.2439T>A c.597T>A c.-553+4704A>T (n.-553+4704A>T) c.2357T>A (p.Leu786His) c.2261T>A (p.Leu754His) c.-78T>A (n.-78T>A) c.2384T>A (p.Leu795His) c.2288T>A (p.Leu763His) c.2228T>A (p.Leu743His) c.2132T>A (p.Leu711His) | |
6 | g.43048213G>A | CA364218475 | CUL7,KLC4 | c.2104C>T (p.Leu702Phe) n.2387C>T c.2200C>T (p.Leu734Phe) n.2403C>T c.53C>T n.2438C>T c.596C>T c.-553+4705G>A (n.-553+4705G>A) c.2356C>T (p.Leu786Phe) c.2260C>T (p.Leu754Phe) c.-79C>T (n.-79C>T) c.2383C>T (p.Leu795Phe) c.2287C>T (p.Leu763Phe) c.2227C>T (p.Leu743Phe) c.2131C>T (p.Leu711Phe) | |
6 | g.43048213G>C | CA364218477 | CUL7,KLC4 | c.2104C>G (p.Leu702Val) n.2387C>G c.2200C>G (p.Leu734Val) n.2403C>G c.53C>G n.2438C>G c.596C>G c.-553+4705G>C (n.-553+4705G>C) c.2356C>G (p.Leu786Val) c.2260C>G (p.Leu754Val) c.-79C>G (n.-79C>G) c.2383C>G (p.Leu795Val) c.2287C>G (p.Leu763Val) c.2227C>G (p.Leu743Val) c.2131C>G (p.Leu711Val) | |
6 | g.43048213G>T | CA364218481 | CUL7,KLC4 | c.2104C>A (p.Leu702Ile) n.2387C>A c.2200C>A (p.Leu734Ile) n.2403C>A c.53C>A n.2438C>A c.596C>A c.-553+4705G>T (n.-553+4705G>T) c.2356C>A (p.Leu786Ile) c.2260C>A (p.Leu754Ile) c.-79C>A (n.-79C>A) c.2383C>A (p.Leu795Ile) c.2287C>A (p.Leu763Ile) c.2227C>A (p.Leu743Ile) c.2131C>A (p.Leu711Ile) | |
6 | g.43048214C>A | CA450261581 | CUL7,KLC4 | c.2103G>T (p.Leu701=) n.2386G>T c.2199G>T (p.Leu733=) n.2402G>T c.52G>T n.2437G>T c.595G>T c.-553+4706C>A (n.-553+4706C>A) c.2355G>T (p.Leu785=) c.2259G>T (p.Leu753=) c.-80G>T (n.-80G>T) c.2382G>T (p.Leu794=) c.2286G>T (p.Leu762=) c.2226G>T (p.Leu742=) c.2130G>T (p.Leu710=) | |
6 | g.43048214C= | CA1624357258 | CUL7,KLC4 | c.2103G= (p.Leu701=) n.2386G= c.2199G= (p.Leu733=) n.2402G= c.52G= n.2437G= c.595G= c.-553+4706C= (n.-553+4706C=) c.2355G= (p.Leu785=) c.2259G= (p.Leu753=) c.-80G= (n.-80G=) c.2382G= (p.Leu794=) c.2286G= (p.Leu762=) c.2226G= (p.Leu742=) c.2130G= (p.Leu710=) | |
6 | g.43048214C>G | CA450261582 | CUL7,KLC4 | c.2103G>C (p.Leu701=) n.2386G>C c.2199G>C (p.Leu733=) n.2402G>C c.52G>C n.2437G>C c.595G>C c.-553+4706C>G (n.-553+4706C>G) c.2355G>C (p.Leu785=) c.2259G>C (p.Leu753=) c.-80G>C (n.-80G>C) c.2382G>C (p.Leu794=) c.2286G>C (p.Leu762=) c.2226G>C (p.Leu742=) c.2130G>C (p.Leu710=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048214C>T | CA450261583 | CUL7,KLC4 | c.2103G>A (p.Leu701=) n.2386G>A c.2199G>A (p.Leu733=) n.2402G>A c.52G>A n.2437G>A c.595G>A c.-553+4706C>T (n.-553+4706C>T) c.2355G>A (p.Leu785=) c.2259G>A (p.Leu753=) c.-80G>A (n.-80G>A) c.2382G>A (p.Leu794=) c.2286G>A (p.Leu762=) c.2226G>A (p.Leu742=) c.2130G>A (p.Leu710=) | dbSNP |
6 | g.43048215A>C | CA364218484 | CUL7,KLC4 | c.2102T>G (p.Leu701Arg) n.2385T>G c.2198T>G (p.Leu733Arg) n.2401T>G c.51T>G n.2436T>G c.594T>G c.-553+4707A>C (n.-553+4707A>C) c.2354T>G (p.Leu785Arg) c.2258T>G (p.Leu753Arg) c.-81T>G (n.-81T>G) c.2381T>G (p.Leu794Arg) c.2285T>G (p.Leu762Arg) c.2225T>G (p.Leu742Arg) c.2129T>G (p.Leu710Arg) | |
6 | g.43048215A>G | CA364218485 | CUL7,KLC4 | c.2102T>C (p.Leu701Pro) n.2385T>C c.2198T>C (p.Leu733Pro) n.2401T>C c.51T>C n.2436T>C c.594T>C c.-553+4707A>G (n.-553+4707A>G) c.2354T>C (p.Leu785Pro) c.2258T>C (p.Leu753Pro) c.-81T>C (n.-81T>C) c.2381T>C (p.Leu794Pro) c.2285T>C (p.Leu762Pro) c.2225T>C (p.Leu742Pro) c.2129T>C (p.Leu710Pro) | |
6 | g.43048215A>T | CA364218487 | CUL7,KLC4 | c.2102T>A (p.Leu701Gln) n.2385T>A c.2198T>A (p.Leu733Gln) n.2401T>A c.51T>A n.2436T>A c.594T>A c.-553+4707A>T (n.-553+4707A>T) c.2354T>A (p.Leu785Gln) c.2258T>A (p.Leu753Gln) c.-81T>A (n.-81T>A) c.2381T>A (p.Leu794Gln) c.2285T>A (p.Leu762Gln) c.2225T>A (p.Leu742Gln) c.2129T>A (p.Leu710Gln) | |
6 | g.43048216G>A | CA450261587 | CUL7,KLC4 | c.2101C>T (p.Leu701=) n.2384C>T c.2197C>T (p.Leu733=) n.2400C>T c.50C>T n.2435C>T c.593C>T c.-553+4708G>A (n.-553+4708G>A) c.2353C>T (p.Leu785=) c.2257C>T (p.Leu753=) c.-82C>T (n.-82C>T) c.2380C>T (p.Leu794=) c.2284C>T (p.Leu762=) c.2224C>T (p.Leu742=) c.2128C>T (p.Leu710=) | |
6 | g.43048216G>C | CA364218492 | CUL7,KLC4 | c.2101C>G (p.Leu701Val) n.2384C>G c.2197C>G (p.Leu733Val) n.2400C>G c.50C>G n.2435C>G c.593C>G c.-553+4708G>C (n.-553+4708G>C) c.2353C>G (p.Leu785Val) c.2257C>G (p.Leu753Val) c.-82C>G (n.-82C>G) c.2380C>G (p.Leu794Val) c.2284C>G (p.Leu762Val) c.2224C>G (p.Leu742Val) c.2128C>G (p.Leu710Val) | |
6 | g.43048216G>T | CA364218490 | CUL7,KLC4 | c.2101C>A (p.Leu701Met) n.2384C>A c.2197C>A (p.Leu733Met) n.2400C>A c.50C>A n.2435C>A c.593C>A c.-553+4708G>T (n.-553+4708G>T) c.2353C>A (p.Leu785Met) c.2257C>A (p.Leu753Met) c.-82C>A (n.-82C>A) c.2380C>A (p.Leu794Met) c.2284C>A (p.Leu762Met) c.2224C>A (p.Leu742Met) c.2128C>A (p.Leu710Met) | |
6 | g.43048217C>A | CA450261588 | CUL7,KLC4 | c.2100G>T (p.Leu700=) n.2383G>T c.2196G>T (p.Leu732=) n.2399G>T c.49G>T n.2434G>T c.592G>T c.-553+4709C>A (n.-553+4709C>A) c.2352G>T (p.Leu784=) c.2256G>T (p.Leu752=) c.-83G>T (n.-83G>T) c.2379G>T (p.Leu793=) c.2283G>T (p.Leu761=) c.2223G>T (p.Leu741=) c.2127G>T (p.Leu709=) | |
6 | g.43048217C>G | CA450261589 | CUL7,KLC4 | c.2100G>C (p.Leu700=) n.2383G>C c.2196G>C (p.Leu732=) n.2399G>C c.49G>C n.2434G>C c.592G>C c.-553+4709C>G (n.-553+4709C>G) c.2352G>C (p.Leu784=) c.2256G>C (p.Leu752=) c.-83G>C (n.-83G>C) c.2379G>C (p.Leu793=) c.2283G>C (p.Leu761=) c.2223G>C (p.Leu741=) c.2127G>C (p.Leu709=) | |
6 | g.43048217C>T | CA450261590 | CUL7,KLC4 | c.2100G>A (p.Leu700=) n.2383G>A c.2196G>A (p.Leu732=) n.2399G>A c.49G>A n.2434G>A c.592G>A c.-553+4709C>T (n.-553+4709C>T) c.2352G>A (p.Leu784=) c.2256G>A (p.Leu752=) c.-83G>A (n.-83G>A) c.2379G>A (p.Leu793=) c.2283G>A (p.Leu761=) c.2223G>A (p.Leu741=) c.2127G>A (p.Leu709=) | COSMIC COSMIC |
6 | g.43048218A>C | CA364218496 | CUL7,KLC4 | c.2099T>G (p.Leu700Arg) n.2382T>G c.2195T>G (p.Leu732Arg) n.2398T>G c.48T>G n.2433T>G c.591T>G c.-553+4710A>C (n.-553+4710A>C) c.2351T>G (p.Leu784Arg) c.2255T>G (p.Leu752Arg) c.-84T>G (n.-84T>G) c.2378T>G (p.Leu793Arg) c.2282T>G (p.Leu761Arg) c.2222T>G (p.Leu741Arg) c.2126T>G (p.Leu709Arg) | |
6 | g.43048218A>G | CA364218499 | CUL7,KLC4 | c.2099T>C (p.Leu700Pro) n.2382T>C c.2195T>C (p.Leu732Pro) n.2398T>C c.48T>C n.2433T>C c.591T>C c.-553+4710A>G (n.-553+4710A>G) c.2351T>C (p.Leu784Pro) c.2255T>C (p.Leu752Pro) c.-84T>C (n.-84T>C) c.2378T>C (p.Leu793Pro) c.2282T>C (p.Leu761Pro) c.2222T>C (p.Leu741Pro) c.2126T>C (p.Leu709Pro) | gnomAD v4 |
6 | g.43048218A>T | CA364218500 | CUL7,KLC4 | c.2099T>A (p.Leu700Gln) n.2382T>A c.2195T>A (p.Leu732Gln) n.2398T>A c.48T>A n.2433T>A c.591T>A c.-553+4710A>T (n.-553+4710A>T) c.2351T>A (p.Leu784Gln) c.2255T>A (p.Leu752Gln) c.-84T>A (n.-84T>A) c.2378T>A (p.Leu793Gln) c.2282T>A (p.Leu761Gln) c.2222T>A (p.Leu741Gln) c.2126T>A (p.Leu709Gln) | |
6 | g.43048219G>A | CA450261595 | CUL7,KLC4 | c.2098C>T (p.Leu700=) n.2381C>T c.2194C>T (p.Leu732=) n.2397C>T c.47C>T n.2432C>T c.590C>T c.-553+4711G>A (n.-553+4711G>A) c.2350C>T (p.Leu784=) c.2254C>T (p.Leu752=) c.-85C>T (n.-85C>T) c.2377C>T (p.Leu793=) c.2281C>T (p.Leu761=) c.2221C>T (p.Leu741=) c.2125C>T (p.Leu709=) | gnomAD v4 |
6 | g.43048219G>C | CA364218504 | CUL7,KLC4 | c.2098C>G (p.Leu700Val) n.2381C>G c.2194C>G (p.Leu732Val) n.2397C>G c.47C>G n.2432C>G c.590C>G c.-553+4711G>C (n.-553+4711G>C) c.2350C>G (p.Leu784Val) c.2254C>G (p.Leu752Val) c.-85C>G (n.-85C>G) c.2377C>G (p.Leu793Val) c.2281C>G (p.Leu761Val) c.2221C>G (p.Leu741Val) c.2125C>G (p.Leu709Val) | |
6 | g.43048219G>T | CA364218506 | CUL7,KLC4 | c.2098C>A (p.Leu700Met) n.2381C>A c.2194C>A (p.Leu732Met) n.2397C>A c.47C>A n.2432C>A c.590C>A c.-553+4711G>T (n.-553+4711G>T) c.2350C>A (p.Leu784Met) c.2254C>A (p.Leu752Met) c.-85C>A (n.-85C>A) c.2377C>A (p.Leu793Met) c.2281C>A (p.Leu761Met) c.2221C>A (p.Leu741Met) c.2125C>A (p.Leu709Met) | |
6 | g.43048220T>A | CA450261600 | CUL7,KLC4 | c.2097A>T (p.Ala699=) n.2380A>T c.2193A>T (p.Ala731=) n.2396A>T c.46A>T n.2431A>T c.589A>T c.-553+4712T>A (n.-553+4712T>A) c.2349A>T (p.Ala783=) c.2253A>T (p.Ala751=) c.-86A>T (n.-86A>T) c.2376A>T (p.Ala792=) c.2280A>T (p.Ala760=) c.2220A>T (p.Ala740=) c.2124A>T (p.Ala708=) | |
6 | g.43048220T>C | CA450261601 | CUL7,KLC4 | c.2097A>G (p.Ala699=) n.2380A>G c.2193A>G (p.Ala731=) n.2396A>G c.46A>G n.2431A>G c.589A>G c.-553+4712T>C (n.-553+4712T>C) c.2349A>G (p.Ala783=) c.2253A>G (p.Ala751=) c.-86A>G (n.-86A>G) c.2376A>G (p.Ala792=) c.2280A>G (p.Ala760=) c.2220A>G (p.Ala740=) c.2124A>G (p.Ala708=) | dbSNP gnomAD v4 |
6 | g.43048220T>G | CA450261603 | CUL7,KLC4 | c.2097A>C (p.Ala699=) n.2380A>C c.2193A>C (p.Ala731=) n.2396A>C c.46A>C n.2431A>C c.589A>C c.-553+4712T>G (n.-553+4712T>G) c.2349A>C (p.Ala783=) c.2253A>C (p.Ala751=) c.-86A>C (n.-86A>C) c.2376A>C (p.Ala792=) c.2280A>C (p.Ala760=) c.2220A>C (p.Ala740=) c.2124A>C (p.Ala708=) | |
6 | g.43048220T= | CA1624357259 | CUL7,KLC4 | c.2097A= (p.Ala699=) n.2380A= c.2193A= (p.Ala731=) n.2396A= c.46A= n.2431A= c.589A= c.-553+4712T= (n.-553+4712T=) c.2349A= (p.Ala783=) c.2253A= (p.Ala751=) c.-86A= (n.-86A=) c.2376A= (p.Ala792=) c.2280A= (p.Ala760=) c.2220A= (p.Ala740=) c.2124A= (p.Ala708=) | |
6 | g.43048221G>A | CA364218508 | CUL7,KLC4 | c.2096C>T (p.Ala699Val) n.2379C>T c.2192C>T (p.Ala731Val) n.2395C>T c.45C>T n.2430C>T c.588C>T c.-553+4713G>A (n.-553+4713G>A) c.2348C>T (p.Ala783Val) c.2252C>T (p.Ala751Val) c.-87C>T (n.-87C>T) c.2375C>T (p.Ala792Val) c.2279C>T (p.Ala760Val) c.2219C>T (p.Ala740Val) c.2123C>T (p.Ala708Val) | |
6 | g.43048221G>C | CA364218510 | CUL7,KLC4 | c.2096C>G (p.Ala699Gly) n.2379C>G c.2192C>G (p.Ala731Gly) n.2395C>G c.45C>G n.2430C>G c.588C>G c.-553+4713G>C (n.-553+4713G>C) c.2348C>G (p.Ala783Gly) c.2252C>G (p.Ala751Gly) c.-87C>G (n.-87C>G) c.2375C>G (p.Ala792Gly) c.2279C>G (p.Ala760Gly) c.2219C>G (p.Ala740Gly) c.2123C>G (p.Ala708Gly) | |
6 | g.43048221G>T | CA364218514 | CUL7,KLC4 | c.2096C>A (p.Ala699Glu) n.2379C>A c.2192C>A (p.Ala731Glu) n.2395C>A c.45C>A n.2430C>A c.588C>A c.-553+4713G>T (n.-553+4713G>T) c.2348C>A (p.Ala783Glu) c.2252C>A (p.Ala751Glu) c.-87C>A (n.-87C>A) c.2375C>A (p.Ala792Glu) c.2279C>A (p.Ala760Glu) c.2219C>A (p.Ala740Glu) c.2123C>A (p.Ala708Glu) | |
6 | g.43048222C>A | CA364218519 | CUL7,KLC4 | c.2095G>T (p.Ala699Ser) n.2378G>T c.2191G>T (p.Ala731Ser) n.2394G>T c.44G>T n.2429G>T c.587G>T c.-553+4714C>A (n.-553+4714C>A) c.2347G>T (p.Ala783Ser) c.2251G>T (p.Ala751Ser) c.-88G>T (n.-88G>T) c.2374G>T (p.Ala792Ser) c.2278G>T (p.Ala760Ser) c.2218G>T (p.Ala740Ser) c.2122G>T (p.Ala708Ser) | gnomAD v4 |
6 | g.43048222C>G | CA364218520 | CUL7,KLC4 | c.2095G>C (p.Ala699Pro) n.2378G>C c.2191G>C (p.Ala731Pro) n.2394G>C c.44G>C n.2429G>C c.587G>C c.-553+4714C>G (n.-553+4714C>G) c.2347G>C (p.Ala783Pro) c.2251G>C (p.Ala751Pro) c.-88G>C (n.-88G>C) c.2374G>C (p.Ala792Pro) c.2278G>C (p.Ala760Pro) c.2218G>C (p.Ala740Pro) c.2122G>C (p.Ala708Pro) | |
6 | g.43048222C>T | CA364218522 | CUL7,KLC4 | c.2095G>A (p.Ala699Thr) n.2378G>A c.2191G>A (p.Ala731Thr) n.2394G>A c.44G>A n.2429G>A c.587G>A c.-553+4714C>T (n.-553+4714C>T) c.2347G>A (p.Ala783Thr) c.2251G>A (p.Ala751Thr) c.-88G>A (n.-88G>A) c.2374G>A (p.Ala792Thr) c.2278G>A (p.Ala760Thr) c.2218G>A (p.Ala740Thr) c.2122G>A (p.Ala708Thr) | |
6 | g.43048223C>A | CA364218526 | CUL7,KLC4 | c.2094G>T (p.Glu698Asp) n.2377G>T c.2190G>T (p.Glu730Asp) n.2393G>T c.43G>T n.2428G>T c.586G>T c.-553+4715C>A (n.-553+4715C>A) c.2346G>T (p.Glu782Asp) c.2250G>T (p.Glu750Asp) c.-89G>T (n.-89G>T) c.2373G>T (p.Glu791Asp) c.2277G>T (p.Glu759Asp) c.2217G>T (p.Glu739Asp) c.2121G>T (p.Glu707Asp) | |
6 | g.43048223C>G | CA364218529 | CUL7,KLC4 | c.2094G>C (p.Glu698Asp) n.2377G>C c.2190G>C (p.Glu730Asp) n.2393G>C c.43G>C n.2428G>C c.586G>C c.-553+4715C>G (n.-553+4715C>G) c.2346G>C (p.Glu782Asp) c.2250G>C (p.Glu750Asp) c.-89G>C (n.-89G>C) c.2373G>C (p.Glu791Asp) c.2277G>C (p.Glu759Asp) c.2217G>C (p.Glu739Asp) c.2121G>C (p.Glu707Asp) | |
6 | g.43048223C>T | CA450261605 | CUL7,KLC4 | c.2094G>A (p.Glu698=) n.2377G>A c.2190G>A (p.Glu730=) n.2393G>A c.43G>A n.2428G>A c.586G>A c.-553+4715C>T (n.-553+4715C>T) c.2346G>A (p.Glu782=) c.2250G>A (p.Glu750=) c.-89G>A (n.-89G>A) c.2373G>A (p.Glu791=) c.2277G>A (p.Glu759=) c.2217G>A (p.Glu739=) c.2121G>A (p.Glu707=) | |
6 | g.43048224T>A | CA364218536 | CUL7,KLC4 | c.2093A>T (p.Glu698Val) n.2376A>T c.2189A>T (p.Glu730Val) n.2392A>T c.42A>T n.2427A>T c.585A>T c.-553+4716T>A (n.-553+4716T>A) c.2345A>T (p.Glu782Val) c.2249A>T (p.Glu750Val) c.-90A>T (n.-90A>T) c.2372A>T (p.Glu791Val) c.2276A>T (p.Glu759Val) c.2216A>T (p.Glu739Val) c.2120A>T (p.Glu707Val) | |
6 | g.43048224T>C | CA364218538 | CUL7,KLC4 | c.2093A>G (p.Glu698Gly) n.2376A>G c.2189A>G (p.Glu730Gly) n.2392A>G c.42A>G n.2427A>G c.585A>G c.-553+4716T>C (n.-553+4716T>C) c.2345A>G (p.Glu782Gly) c.2249A>G (p.Glu750Gly) c.-90A>G (n.-90A>G) c.2372A>G (p.Glu791Gly) c.2276A>G (p.Glu759Gly) c.2216A>G (p.Glu739Gly) c.2120A>G (p.Glu707Gly) | |
6 | g.43048224T>G | CA364218533 | CUL7,KLC4 | c.2093A>C (p.Glu698Ala) n.2376A>C c.2189A>C (p.Glu730Ala) n.2392A>C c.42A>C n.2427A>C c.585A>C c.-553+4716T>G (n.-553+4716T>G) c.2345A>C (p.Glu782Ala) c.2249A>C (p.Glu750Ala) c.-90A>C (n.-90A>C) c.2372A>C (p.Glu791Ala) c.2276A>C (p.Glu759Ala) c.2216A>C (p.Glu739Ala) c.2120A>C (p.Glu707Ala) | |
6 | g.43048225C>A | CA364218548 | CUL7,KLC4 | c.2092G>T (p.Glu698Ter) n.2375G>T c.2188G>T (p.Glu730Ter) n.2391G>T c.41G>T n.2426G>T c.584G>T c.-553+4717C>A (n.-553+4717C>A) c.2344G>T (p.Glu782Ter) c.2248G>T (p.Glu750Ter) c.-91G>T (n.-91G>T) c.2371G>T (p.Glu791Ter) c.2275G>T (p.Glu759Ter) c.2215G>T (p.Glu739Ter) c.2119G>T (p.Glu707Ter) | |
6 | g.43048225C= | CA1624357261 | CUL7,KLC4 | c.2092G= (p.Glu698=) n.2375G= c.2188G= (p.Glu730=) n.2391G= c.41G= n.2426G= c.584G= c.-553+4717C= (n.-553+4717C=) c.2344G= (p.Glu782=) c.2248G= (p.Glu750=) c.-91G= (n.-91G=) c.2371G= (p.Glu791=) c.2275G= (p.Glu759=) c.2215G= (p.Glu739=) c.2119G= (p.Glu707=) | |
6 | g.43048225C>G | CA364218550 | CUL7,KLC4 | c.2092G>C (p.Glu698Gln) n.2375G>C c.2188G>C (p.Glu730Gln) n.2391G>C c.41G>C n.2426G>C c.584G>C c.-553+4717C>G (n.-553+4717C>G) c.2344G>C (p.Glu782Gln) c.2248G>C (p.Glu750Gln) c.-91G>C (n.-91G>C) c.2371G>C (p.Glu791Gln) c.2275G>C (p.Glu759Gln) c.2215G>C (p.Glu739Gln) c.2119G>C (p.Glu707Gln) | |
6 | g.43048225C>T | CA3813986 | CUL7,KLC4 | c.2092G>A (p.Glu698Lys) n.2375G>A c.2188G>A (p.Glu730Lys) n.2391G>A c.41G>A n.2426G>A c.584G>A c.-553+4717C>T (n.-553+4717C>T) c.2344G>A (p.Glu782Lys) c.2248G>A (p.Glu750Lys) c.-91G>A (n.-91G>A) c.2371G>A (p.Glu791Lys) c.2275G>A (p.Glu759Lys) c.2215G>A (p.Glu739Lys) c.2119G>A (p.Glu707Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048225_43048226delinsCG | CA1624357260 | CUL7,KLC4 | c.2091_2092delinsCG (p.Pro697=) n.2374_2375delinsCG c.2187_2188delinsCG (p.Pro729=) n.2390_2391delinsCG c.40_41delinsCG n.2425_2426delinsCG c.583_584delinsCG c.-553+4717_-553+4718delinsCG (n.-553+4717_-553+4718delinsCG) c.2343_2344delinsCG (p.Pro781=) c.2247_2248delinsCG (p.Pro749=) c.-92_-91delinsCG (n.-92_-91delinsCG) c.2370_2371delinsCG (p.Pro790=) c.2274_2275delinsCG (p.Pro758=) c.2214_2215delinsCG (p.Pro738=) c.2118_2119delinsCG (p.Pro706=) | |
6 | g.43048226G>A | CA3813987 | CUL7,KLC4 | c.2091C>T (p.Pro697=) n.2374C>T c.2187C>T (p.Pro729=) n.2390C>T c.40C>T n.2425C>T c.583C>T c.-553+4718G>A (n.-553+4718G>A) c.2343C>T (p.Pro781=) c.2247C>T (p.Pro749=) c.-92C>T (n.-92C>T) c.2370C>T (p.Pro790=) c.2274C>T (p.Pro758=) c.2214C>T (p.Pro738=) c.2118C>T (p.Pro706=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.43048226G>C | CA450261609 | CUL7,KLC4 | c.2091C>G (p.Pro697=) n.2374C>G c.2187C>G (p.Pro729=) n.2390C>G c.40C>G n.2425C>G c.583C>G c.-553+4718G>C (n.-553+4718G>C) c.2343C>G (p.Pro781=) c.2247C>G (p.Pro749=) c.-92C>G (n.-92C>G) c.2370C>G (p.Pro790=) c.2274C>G (p.Pro758=) c.2214C>G (p.Pro738=) c.2118C>G (p.Pro706=) | |
6 | g.43048226G= | CA1624357262 | CUL7,KLC4 | c.2091C= (p.Pro697=) n.2374C= c.2187C= (p.Pro729=) n.2390C= c.40C= n.2425C= c.583C= c.-553+4718G= (n.-553+4718G=) c.2343C= (p.Pro781=) c.2247C= (p.Pro749=) c.-92C= (n.-92C=) c.2370C= (p.Pro790=) c.2274C= (p.Pro758=) c.2214C= (p.Pro738=) c.2118C= (p.Pro706=) | |
6 | g.43048226G>T | CA450261610 | CUL7,KLC4 | c.2091C>A (p.Pro697=) n.2374C>A c.2187C>A (p.Pro729=) n.2390C>A c.40C>A n.2425C>A c.583C>A c.-553+4718G>T (n.-553+4718G>T) c.2343C>A (p.Pro781=) c.2247C>A (p.Pro749=) c.-92C>A (n.-92C>A) c.2370C>A (p.Pro790=) c.2274C>A (p.Pro758=) c.2214C>A (p.Pro738=) c.2118C>A (p.Pro706=) | |
6 | g.43048229del | CA1088349855 | CUL7,KLC4 | c.2091del (p.Glu698ArgfsTer?) n.2374del c.2187del (p.Glu730ArgfsTer27) n.2390del c.40del n.2425del c.2187del (p.Glu730ArgfsTer?) c.583del c.-553+4721del (n.-553+4721del) c.2343del (p.Glu782ArgfsTer?) c.2247del (p.Glu750ArgfsTer?) c.-92del (n.-92del) c.2370del (p.Glu791ArgfsTer?) c.2274del (p.Glu759ArgfsTer?) c.2214del (p.Glu739ArgfsTer?) c.2118del (p.Glu707ArgfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.43048227G>A | CA364218553 | CUL7,KLC4 | c.2090C>T (p.Pro697Leu) n.2373C>T c.2186C>T (p.Pro729Leu) n.2389C>T c.39C>T n.2424C>T c.582C>T c.-553+4719G>A (n.-553+4719G>A) c.2342C>T (p.Pro781Leu) c.2246C>T (p.Pro749Leu) c.-93C>T (n.-93C>T) c.2369C>T (p.Pro790Leu) c.2273C>T (p.Pro758Leu) c.2213C>T (p.Pro738Leu) c.2117C>T (p.Pro706Leu) | gnomAD v4 |
6 | g.43048227G>C | CA364218555 | CUL7,KLC4 | c.2090C>G (p.Pro697Arg) n.2373C>G c.2186C>G (p.Pro729Arg) n.2389C>G c.39C>G n.2424C>G c.582C>G c.-553+4719G>C (n.-553+4719G>C) c.2342C>G (p.Pro781Arg) c.2246C>G (p.Pro749Arg) c.-93C>G (n.-93C>G) c.2369C>G (p.Pro790Arg) c.2273C>G (p.Pro758Arg) c.2213C>G (p.Pro738Arg) c.2117C>G (p.Pro706Arg) | |
6 | g.43048227G>T | CA364218557 | CUL7,KLC4 | c.2090C>A (p.Pro697His) n.2373C>A c.2186C>A (p.Pro729His) n.2389C>A c.39C>A n.2424C>A c.582C>A c.-553+4719G>T (n.-553+4719G>T) c.2342C>A (p.Pro781His) c.2246C>A (p.Pro749His) c.-93C>A (n.-93C>A) c.2369C>A (p.Pro790His) c.2273C>A (p.Pro758His) c.2213C>A (p.Pro738His) c.2117C>A (p.Pro706His) | |
6 | g.43048228G>A | CA364218558 | CUL7,KLC4 | c.2089C>T (p.Pro697Ser) n.2372C>T c.2185C>T (p.Pro729Ser) n.2388C>T c.38C>T n.2423C>T c.581C>T c.-553+4720G>A (n.-553+4720G>A) c.2341C>T (p.Pro781Ser) c.2245C>T (p.Pro749Ser) c.-94C>T (n.-94C>T) c.2368C>T (p.Pro790Ser) c.2272C>T (p.Pro758Ser) c.2212C>T (p.Pro738Ser) c.2116C>T (p.Pro706Ser) | |
6 | g.43048228G>C | CA364218560 | CUL7,KLC4 | c.2089C>G (p.Pro697Ala) n.2372C>G c.2185C>G (p.Pro729Ala) n.2388C>G c.38C>G n.2423C>G c.581C>G c.-553+4720G>C (n.-553+4720G>C) c.2341C>G (p.Pro781Ala) c.2245C>G (p.Pro749Ala) c.-94C>G (n.-94C>G) c.2368C>G (p.Pro790Ala) c.2272C>G (p.Pro758Ala) c.2212C>G (p.Pro738Ala) c.2116C>G (p.Pro706Ala) | |
6 | g.43048228G>T | CA364218559 | CUL7,KLC4 | c.2089C>A (p.Pro697Thr) n.2372C>A c.2185C>A (p.Pro729Thr) n.2388C>A c.38C>A n.2423C>A c.581C>A c.-553+4720G>T (n.-553+4720G>T) c.2341C>A (p.Pro781Thr) c.2245C>A (p.Pro749Thr) c.-94C>A (n.-94C>A) c.2368C>A (p.Pro790Thr) c.2272C>A (p.Pro758Thr) c.2212C>A (p.Pro738Thr) c.2116C>A (p.Pro706Thr) | |
6 | g.43048229G>A | CA450261617 | CUL7,KLC4 | c.2088C>T (p.Phe696=) n.2371C>T c.2184C>T (p.Phe728=) n.2387C>T c.37C>T n.2422C>T c.580C>T c.-553+4721G>A (n.-553+4721G>A) c.2340C>T (p.Phe780=) c.2244C>T (p.Phe748=) c.-95C>T (n.-95C>T) c.2367C>T (p.Phe789=) c.2271C>T (p.Phe757=) c.2211C>T (p.Phe737=) c.2115C>T (p.Phe705=) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.43048229G>C | CA364218563 | CUL7,KLC4 | c.2088C>G (p.Phe696Leu) n.2371C>G c.2184C>G (p.Phe728Leu) n.2387C>G c.37C>G n.2422C>G c.580C>G c.-553+4721G>C (n.-553+4721G>C) c.2340C>G (p.Phe780Leu) c.2244C>G (p.Phe748Leu) c.-95C>G (n.-95C>G) c.2367C>G (p.Phe789Leu) c.2271C>G (p.Phe757Leu) c.2211C>G (p.Phe737Leu) c.2115C>G (p.Phe705Leu) | |
6 | g.43048229G= | CA1624357263 | CUL7,KLC4 | c.2088C= (p.Phe696=) n.2371C= c.2184C= (p.Phe728=) n.2387C= c.37C= n.2422C= c.580C= c.-553+4721G= (n.-553+4721G=) c.2340C= (p.Phe780=) c.2244C= (p.Phe748=) c.-95C= (n.-95C=) c.2367C= (p.Phe789=) c.2271C= (p.Phe757=) c.2211C= (p.Phe737=) c.2115C= (p.Phe705=) | |
6 | g.43048229G>T | CA364218564 | CUL7,KLC4 | c.2088C>A (p.Phe696Leu) n.2371C>A c.2184C>A (p.Phe728Leu) n.2387C>A c.37C>A n.2422C>A c.580C>A c.-553+4721G>T (n.-553+4721G>T) c.2340C>A (p.Phe780Leu) c.2244C>A (p.Phe748Leu) c.-95C>A (n.-95C>A) c.2367C>A (p.Phe789Leu) c.2271C>A (p.Phe757Leu) c.2211C>A (p.Phe737Leu) c.2115C>A (p.Phe705Leu) | |
6 | g.43048230A>C | CA364218567 | CUL7,KLC4 | c.2087T>G (p.Phe696Cys) n.2370T>G c.2183T>G (p.Phe728Cys) n.2386T>G c.36T>G n.2421T>G c.579T>G c.-553+4722A>C (n.-553+4722A>C) c.2339T>G (p.Phe780Cys) c.2243T>G (p.Phe748Cys) c.-96T>G (n.-96T>G) c.2366T>G (p.Phe789Cys) c.2270T>G (p.Phe757Cys) c.2210T>G (p.Phe737Cys) c.2114T>G (p.Phe705Cys) | |
6 | g.43048230A>G | CA364218570 | CUL7,KLC4 | c.2087T>C (p.Phe696Ser) n.2370T>C c.2183T>C (p.Phe728Ser) n.2386T>C c.36T>C n.2421T>C c.579T>C c.-553+4722A>G (n.-553+4722A>G) c.2339T>C (p.Phe780Ser) c.2243T>C (p.Phe748Ser) c.-96T>C (n.-96T>C) c.2366T>C (p.Phe789Ser) c.2270T>C (p.Phe757Ser) c.2210T>C (p.Phe737Ser) c.2114T>C (p.Phe705Ser) | |
6 | g.43048230A>T | CA364218572 | CUL7,KLC4 | c.2087T>A (p.Phe696Tyr) n.2370T>A c.2183T>A (p.Phe728Tyr) n.2386T>A c.36T>A n.2421T>A c.579T>A c.-553+4722A>T (n.-553+4722A>T) c.2339T>A (p.Phe780Tyr) c.2243T>A (p.Phe748Tyr) c.-96T>A (n.-96T>A) c.2366T>A (p.Phe789Tyr) c.2270T>A (p.Phe757Tyr) c.2210T>A (p.Phe737Tyr) c.2114T>A (p.Phe705Tyr) | |
6 | g.43048231A>C | CA364218576 | CUL7,KLC4 | c.2086T>G (p.Phe696Val) n.2369T>G c.2182T>G (p.Phe728Val) n.2385T>G c.35T>G n.2420T>G c.578T>G c.-553+4723A>C (n.-553+4723A>C) c.2338T>G (p.Phe780Val) c.2242T>G (p.Phe748Val) c.-97T>G (n.-97T>G) c.2365T>G (p.Phe789Val) c.2269T>G (p.Phe757Val) c.2209T>G (p.Phe737Val) c.2113T>G (p.Phe705Val) | |
6 | g.43048231A>G | CA364218581 | CUL7,KLC4 | c.2086T>C (p.Phe696Leu) n.2369T>C c.2182T>C (p.Phe728Leu) n.2385T>C c.35T>C n.2420T>C c.578T>C c.-553+4723A>G (n.-553+4723A>G) c.2338T>C (p.Phe780Leu) c.2242T>C (p.Phe748Leu) c.-97T>C (n.-97T>C) c.2365T>C (p.Phe789Leu) c.2269T>C (p.Phe757Leu) c.2209T>C (p.Phe737Leu) c.2113T>C (p.Phe705Leu) | |
6 | g.43048231A>T | CA364218578 | CUL7,KLC4 | c.2086T>A (p.Phe696Ile) n.2369T>A c.2182T>A (p.Phe728Ile) n.2385T>A c.35T>A n.2420T>A c.578T>A c.-553+4723A>T (n.-553+4723A>T) c.2338T>A (p.Phe780Ile) c.2242T>A (p.Phe748Ile) c.-97T>A (n.-97T>A) c.2365T>A (p.Phe789Ile) c.2269T>A (p.Phe757Ile) c.2209T>A (p.Phe737Ile) c.2113T>A (p.Phe705Ile) | |
6 | g.43048232G>A | CA450261620 | CUL7,KLC4 | c.2085C>T (p.Asp695=) n.2368C>T c.2181C>T (p.Asp727=) n.2384C>T c.34C>T n.2419C>T c.577C>T c.-553+4724G>A (n.-553+4724G>A) c.2337C>T (p.Asp779=) c.2241C>T (p.Asp747=) c.-98C>T (n.-98C>T) c.2364C>T (p.Asp788=) c.2268C>T (p.Asp756=) c.2208C>T (p.Asp736=) c.2112C>T (p.Asp704=) | |
6 | g.43048232G>C | CA364218583 | CUL7,KLC4 | c.2085C>G (p.Asp695Glu) n.2368C>G c.2181C>G (p.Asp727Glu) n.2384C>G c.34C>G n.2419C>G c.577C>G c.-553+4724G>C (n.-553+4724G>C) c.2337C>G (p.Asp779Glu) c.2241C>G (p.Asp747Glu) c.-98C>G (n.-98C>G) c.2364C>G (p.Asp788Glu) c.2268C>G (p.Asp756Glu) c.2208C>G (p.Asp736Glu) c.2112C>G (p.Asp704Glu) | |
6 | g.43048232G>T | CA364218586 | CUL7,KLC4 | c.2085C>A (p.Asp695Glu) n.2368C>A c.2181C>A (p.Asp727Glu) n.2384C>A c.34C>A n.2419C>A c.577C>A c.-553+4724G>T (n.-553+4724G>T) c.2337C>A (p.Asp779Glu) c.2241C>A (p.Asp747Glu) c.-98C>A (n.-98C>A) c.2364C>A (p.Asp788Glu) c.2268C>A (p.Asp756Glu) c.2208C>A (p.Asp736Glu) c.2112C>A (p.Asp704Glu) |