Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.71442200_71442243del | CA2614861396 | DHCR7 | c.412+29_412+72del (n.412+29_412+72del) c.238+29_238+72del (n.238+29_238+72del) c.448+29_448+72del (n.448+29_448+72del) n.689+29_689+72del c.-174+29_-174+72del (n.-174+29_-174+72del) c.316+29_316+72del (n.316+29_316+72del) | gnomAD v4 |
11 | g.71442232dup | CA600039600 | DHCR7 | c.412+31dup (n.412+31dup) c.238+31dup (n.238+31dup) c.448+31dup (n.448+31dup) n.689+31dup c.-174+31dup (n.-174+31dup) c.316+31dup (n.316+31dup) | dbSNP gnomAD v2 |
11 | g.71442233G>A | CA1981490183 | DHCR7 | c.412+30C>T (n.412+30C>T) c.238+30C>T (n.238+30C>T) c.448+30C>T (n.448+30C>T) n.689+30C>T c.-174+30C>T (n.-174+30C>T) c.316+30C>T (n.316+30C>T) | dbSNP gnomAD v4 |
11 | g.71442233G>C | CA2792628294 | DHCR7 | c.412+30C>G (n.412+30C>G) c.238+30C>G (n.238+30C>G) c.448+30C>G (n.448+30C>G) n.689+30C>G c.-174+30C>G (n.-174+30C>G) c.316+30C>G (n.316+30C>G) | |
11 | g.71442233G= | CA1981490182 | DHCR7 | c.412+30C= (n.412+30C=) c.238+30C= (n.238+30C=) c.448+30C= (n.448+30C=) n.689+30C= c.-174+30C= (n.-174+30C=) c.316+30C= (n.316+30C=) | |
11 | g.71442233G>T | CA2614861637 | DHCR7 | c.412+30C>A (n.412+30C>A) c.238+30C>A (n.238+30C>A) c.448+30C>A (n.448+30C>A) n.689+30C>A c.-174+30C>A (n.-174+30C>A) c.316+30C>A (n.316+30C>A) | gnomAD v4 |
11 | g.71442234C>A | CA6162581 | DHCR7 | c.412+29G>T (n.412+29G>T) c.238+29G>T (n.238+29G>T) c.448+29G>T (n.448+29G>T) n.689+29G>T c.-174+29G>T (n.-174+29G>T) c.316+29G>T (n.316+29G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442234C= | CA1981490184 | DHCR7 | c.412+29G= (n.412+29G=) c.238+29G= (n.238+29G=) c.448+29G= (n.448+29G=) n.689+29G= c.-174+29G= (n.-174+29G=) c.316+29G= (n.316+29G=) | |
11 | g.71442234C>T | CA2614861641 | DHCR7 | c.412+29G>A (n.412+29G>A) c.238+29G>A (n.238+29G>A) c.448+29G>A (n.448+29G>A) n.689+29G>A c.-174+29G>A (n.-174+29G>A) c.316+29G>A (n.316+29G>A) | gnomAD v4 |
11 | g.71442235C>T | CA2614861645 | DHCR7 | c.412+28G>A (n.412+28G>A) c.238+28G>A (n.238+28G>A) c.448+28G>A (n.448+28G>A) n.689+28G>A c.-174+28G>A (n.-174+28G>A) c.316+28G>A (n.316+28G>A) | gnomAD v4 |
11 | g.71442236T>C | CA2502223399 | DHCR7 | c.412+27A>G (n.412+27A>G) c.238+27A>G (n.238+27A>G) c.448+27A>G (n.448+27A>G) n.689+27A>G c.-174+27A>G (n.-174+27A>G) c.316+27A>G (n.316+27A>G) | gnomAD v4 |
11 | g.71442236T>G | CA1981490186 | DHCR7 | c.412+27A>C (n.412+27A>C) c.238+27A>C (n.238+27A>C) c.448+27A>C (n.448+27A>C) n.689+27A>C c.-174+27A>C (n.-174+27A>C) c.316+27A>C (n.316+27A>C) | dbSNP |
11 | g.71442236T= | CA1981490185 | DHCR7 | c.412+27A= (n.412+27A=) c.238+27A= (n.238+27A=) c.448+27A= (n.448+27A=) n.689+27A= c.-174+27A= (n.-174+27A=) c.316+27A= (n.316+27A=) | |
11 | g.71442237G>A | CA2614861659 | DHCR7 | c.412+26C>T (n.412+26C>T) c.238+26C>T (n.238+26C>T) c.448+26C>T (n.448+26C>T) n.689+26C>T c.-174+26C>T (n.-174+26C>T) c.316+26C>T (n.316+26C>T) | gnomAD v4 |
11 | g.71442237G>T | CA2614861661 | DHCR7 | c.412+26C>A (n.412+26C>A) c.238+26C>A (n.238+26C>A) c.448+26C>A (n.448+26C>A) n.689+26C>A c.-174+26C>A (n.-174+26C>A) c.316+26C>A (n.316+26C>A) | gnomAD v4 |
11 | g.71442240del | CA2614861656 | DHCR7 | c.412+26del (n.412+26del) c.238+26del (n.238+26del) c.448+26del (n.448+26del) n.689+26del c.-174+26del (n.-174+26del) c.316+26del (n.316+26del) | gnomAD v4 |
11 | g.71442239_71442240del | CA2574909263 | DHCR7 | c.412+25_412+26del (n.412+25_412+26del) c.238+25_238+26del (n.238+25_238+26del) c.448+25_448+26del (n.448+25_448+26del) n.689+25_689+26del c.-174+25_-174+26del (n.-174+25_-174+26del) c.316+25_316+26del (n.316+25_316+26del) | gnomAD v4 |
11 | g.71442238G>A | CA600039603 | DHCR7 | c.412+25C>T (n.412+25C>T) c.238+25C>T (n.238+25C>T) c.448+25C>T (n.448+25C>T) n.689+25C>T c.-174+25C>T (n.-174+25C>T) c.316+25C>T (n.316+25C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442238G>C | CA6162582 | DHCR7 | c.412+25C>G (n.412+25C>G) c.238+25C>G (n.238+25C>G) c.448+25C>G (n.448+25C>G) n.689+25C>G c.-174+25C>G (n.-174+25C>G) c.316+25C>G (n.316+25C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442238G= | CA1981490187 | DHCR7 | c.412+25C= (n.412+25C=) c.238+25C= (n.238+25C=) c.448+25C= (n.448+25C=) n.689+25C= c.-174+25C= (n.-174+25C=) c.316+25C= (n.316+25C=) | |
11 | g.71442238G>T | CA2614861667 | DHCR7 | c.412+25C>A (n.412+25C>A) c.238+25C>A (n.238+25C>A) c.448+25C>A (n.448+25C>A) n.689+25C>A c.-174+25C>A (n.-174+25C>A) c.316+25C>A (n.316+25C>A) | gnomAD v4 |
11 | g.71442239G>A | CA6162583 | DHCR7 | c.412+24C>T (n.412+24C>T) c.238+24C>T (n.238+24C>T) c.448+24C>T (n.448+24C>T) n.689+24C>T c.-174+24C>T (n.-174+24C>T) c.316+24C>T (n.316+24C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442239G= | CA1981490188 | DHCR7 | c.412+24C= (n.412+24C=) c.238+24C= (n.238+24C=) c.448+24C= (n.448+24C=) n.689+24C= c.-174+24C= (n.-174+24C=) c.316+24C= (n.316+24C=) | |
11 | g.71442239G>T | CA2614861672 | DHCR7 | c.412+24C>A (n.412+24C>A) c.238+24C>A (n.238+24C>A) c.448+24C>A (n.448+24C>A) n.689+24C>A c.-174+24C>A (n.-174+24C>A) c.316+24C>A (n.316+24C>A) | gnomAD v4 |
11 | g.71442240G>T | CA2614861676 | DHCR7 | c.412+23C>A (n.412+23C>A) c.238+23C>A (n.238+23C>A) c.448+23C>A (n.448+23C>A) n.689+23C>A c.-174+23C>A (n.-174+23C>A) c.316+23C>A (n.316+23C>A) | gnomAD v4 |
11 | g.71442241A>G | CA2614861677 | DHCR7 | c.412+22T>C (n.412+22T>C) c.238+22T>C (n.238+22T>C) c.448+22T>C (n.448+22T>C) n.689+22T>C c.-174+22T>C (n.-174+22T>C) c.316+22T>C (n.316+22T>C) | gnomAD v4 |
11 | g.71442242G>A | CA2614861680 | DHCR7 | c.412+21C>T (n.412+21C>T) c.238+21C>T (n.238+21C>T) c.448+21C>T (n.448+21C>T) n.689+21C>T c.-174+21C>T (n.-174+21C>T) c.316+21C>T (n.316+21C>T) | gnomAD v4 |
11 | g.71442242G= | CA1981490189 | DHCR7 | c.412+21C= (n.412+21C=) c.238+21C= (n.238+21C=) c.448+21C= (n.448+21C=) n.689+21C= c.-174+21C= (n.-174+21C=) c.316+21C= (n.316+21C=) | |
11 | g.71442242G>T | CA224280067 | DHCR7 | c.412+21C>A (n.412+21C>A) c.238+21C>A (n.238+21C>A) c.448+21C>A (n.448+21C>A) n.689+21C>A c.-174+21C>A (n.-174+21C>A) c.316+21C>A (n.316+21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442243G>A | CA600039605 | DHCR7 | c.412+20C>T (n.412+20C>T) c.238+20C>T (n.238+20C>T) c.448+20C>T (n.448+20C>T) n.689+20C>T c.-174+20C>T (n.-174+20C>T) c.316+20C>T (n.316+20C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442243G>C | CA2697548791 | DHCR7 | c.412+20C>G (n.412+20C>G) c.238+20C>G (n.238+20C>G) c.448+20C>G (n.448+20C>G) n.689+20C>G c.-174+20C>G (n.-174+20C>G) c.316+20C>G (n.316+20C>G) | ClinVar |
11 | g.71442243G= | CA1981490190 | DHCR7 | c.412+20C= (n.412+20C=) c.238+20C= (n.238+20C=) c.448+20C= (n.448+20C=) n.689+20C= c.-174+20C= (n.-174+20C=) c.316+20C= (n.316+20C=) | |
11 | g.71442243G>T | CA2614861685 | DHCR7 | c.412+20C>A (n.412+20C>A) c.238+20C>A (n.238+20C>A) c.448+20C>A (n.448+20C>A) n.689+20C>A c.-174+20C>A (n.-174+20C>A) c.316+20C>A (n.316+20C>A) | gnomAD v4 |
11 | g.71442244G>A | CA2740093125 | DHCR7 | c.412+19C>T (n.412+19C>T) c.238+19C>T (n.238+19C>T) c.448+19C>T (n.448+19C>T) n.689+19C>T c.-174+19C>T (n.-174+19C>T) c.316+19C>T (n.316+19C>T) | ClinVar |
11 | g.71442244G>T | CA2614861688 | DHCR7 | c.412+19C>A (n.412+19C>A) c.238+19C>A (n.238+19C>A) c.448+19C>A (n.448+19C>A) n.689+19C>A c.-174+19C>A (n.-174+19C>A) c.316+19C>A (n.316+19C>A) | gnomAD v4 |
11 | g.71442245_71442246del | CA2574909264 | DHCR7 | c.412+18_412+19del (n.412+18_412+19del) c.238+18_238+19del (n.238+18_238+19del) c.448+18_448+19del (n.448+18_448+19del) n.689+18_689+19del c.-174+18_-174+19del (n.-174+18_-174+19del) c.316+18_316+19del (n.316+18_316+19del) | |
11 | g.71442245T>A | CA2614861691 | DHCR7 | c.412+18A>T (n.412+18A>T) c.238+18A>T (n.238+18A>T) c.448+18A>T (n.448+18A>T) n.689+18A>T c.-174+18A>T (n.-174+18A>T) c.316+18A>T (n.316+18A>T) | gnomAD v4 |
11 | g.71442245T>G | CA1981490192 | DHCR7 | c.412+18A>C (n.412+18A>C) c.238+18A>C (n.238+18A>C) c.448+18A>C (n.448+18A>C) n.689+18A>C c.-174+18A>C (n.-174+18A>C) c.316+18A>C (n.316+18A>C) | dbSNP gnomAD v4 |
11 | g.71442245T= | CA1981490191 | DHCR7 | c.412+18A= (n.412+18A=) c.238+18A= (n.238+18A=) c.448+18A= (n.448+18A=) n.689+18A= c.-174+18A= (n.-174+18A=) c.316+18A= (n.316+18A=) | |
11 | g.71442246G>A | CA6162584 | DHCR7 | c.412+17C>T (n.412+17C>T) c.238+17C>T (n.238+17C>T) c.448+17C>T (n.448+17C>T) n.689+17C>T c.-174+17C>T (n.-174+17C>T) c.316+17C>T (n.316+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442246G= | CA1981490193 | DHCR7 | c.412+17C= (n.412+17C=) c.238+17C= (n.238+17C=) c.448+17C= (n.448+17C=) n.689+17C= c.-174+17C= (n.-174+17C=) c.316+17C= (n.316+17C=) | |
11 | g.71442246G>T | CA2614861697 | DHCR7 | c.412+17C>A (n.412+17C>A) c.238+17C>A (n.238+17C>A) c.448+17C>A (n.448+17C>A) n.689+17C>A c.-174+17C>A (n.-174+17C>A) c.316+17C>A (n.316+17C>A) | gnomAD v4 |
11 | g.71442247G>A | CA2739270664 | DHCR7 | c.412+16C>T (n.412+16C>T) c.238+16C>T (n.238+16C>T) c.448+16C>T (n.448+16C>T) n.689+16C>T c.-174+16C>T (n.-174+16C>T) c.316+16C>T (n.316+16C>T) | ClinVar |
11 | g.71442247G>T | CA2614861700 | DHCR7 | c.412+16C>A (n.412+16C>A) c.238+16C>A (n.238+16C>A) c.448+16C>A (n.448+16C>A) n.689+16C>A c.-174+16C>A (n.-174+16C>A) c.316+16C>A (n.316+16C>A) | gnomAD v4 |
11 | g.71442249del | CA2614861702 | DHCR7 | c.412+15del (n.412+15del) c.238+15del (n.238+15del) c.448+15del (n.448+15del) n.689+15del c.-174+15del (n.-174+15del) c.316+15del (n.316+15del) | gnomAD v4 |
11 | g.71442250G>A | CA600039608 | DHCR7 | c.412+13C>T (n.412+13C>T) c.238+13C>T (n.238+13C>T) c.448+13C>T (n.448+13C>T) n.689+13C>T c.-174+13C>T (n.-174+13C>T) c.316+13C>T (n.316+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442250G= | CA1981490194 | DHCR7 | c.412+13C= (n.412+13C=) c.238+13C= (n.238+13C=) c.448+13C= (n.448+13C=) n.689+13C= c.-174+13C= (n.-174+13C=) c.316+13C= (n.316+13C=) | |
11 | g.71442250G>T | CA654557177 | DHCR7 | c.412+13C>A (n.412+13C>A) c.238+13C>A (n.238+13C>A) c.448+13C>A (n.448+13C>A) n.689+13C>A c.-174+13C>A (n.-174+13C>A) c.316+13C>A (n.316+13C>A) | COSMIC |
11 | g.71442251G>A | CA2614861706 | DHCR7 | c.412+12C>T (n.412+12C>T) c.238+12C>T (n.238+12C>T) c.448+12C>T (n.448+12C>T) n.689+12C>T c.-174+12C>T (n.-174+12C>T) c.316+12C>T (n.316+12C>T) | gnomAD v4 |
11 | g.71442251G>T | CA2614861707 | DHCR7 | c.412+12C>A (n.412+12C>A) c.238+12C>A (n.238+12C>A) c.448+12C>A (n.448+12C>A) n.689+12C>A c.-174+12C>A (n.-174+12C>A) c.316+12C>A (n.316+12C>A) | gnomAD v4 |
11 | g.71442252G>A | CA6162585 | DHCR7 | c.412+11C>T (n.412+11C>T) c.238+11C>T (n.238+11C>T) c.448+11C>T (n.448+11C>T) n.689+11C>T c.-174+11C>T (n.-174+11C>T) c.316+11C>T (n.316+11C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442252G= | CA1981490195 | DHCR7 | c.412+11C= (n.412+11C=) c.238+11C= (n.238+11C=) c.448+11C= (n.448+11C=) n.689+11C= c.-174+11C= (n.-174+11C=) c.316+11C= (n.316+11C=) | |
11 | g.71442253A>C | CA2573147614 | DHCR7 | c.412+10T>G (n.412+10T>G) c.238+10T>G (n.238+10T>G) c.448+10T>G (n.448+10T>G) n.689+10T>G c.-174+10T>G (n.-174+10T>G) c.316+10T>G (n.316+10T>G) | ClinVar dbSNP |
11 | g.71442254G>A | CA2573147615 | DHCR7 | c.412+9C>T (n.412+9C>T) c.238+9C>T (n.238+9C>T) c.448+9C>T (n.448+9C>T) n.689+9C>T c.-174+9C>T (n.-174+9C>T) c.316+9C>T (n.316+9C>T) | ClinVar dbSNP |
11 | g.71442255del | CA2574909265 | DHCR7 | c.412+9del (n.412+9del) c.238+9del (n.238+9del) c.448+9del (n.448+9del) n.689+9del c.-174+9del (n.-174+9del) c.316+9del (n.316+9del) | |
11 | g.71442255G>A | CA600039611 | DHCR7 | c.412+8C>T (n.412+8C>T) c.238+8C>T (n.238+8C>T) c.448+8C>T (n.448+8C>T) n.689+8C>T c.-174+8C>T (n.-174+8C>T) c.316+8C>T (n.316+8C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442255G= | CA1981490196 | DHCR7 | c.412+8C= (n.412+8C=) c.238+8C= (n.238+8C=) c.448+8C= (n.448+8C=) n.689+8C= c.-174+8C= (n.-174+8C=) c.316+8C= (n.316+8C=) | |
11 | g.71442255G>T | CA475519610 | DHCR7 | c.412+8C>A (n.412+8C>A) c.238+8C>A (n.238+8C>A) c.448+8C>A (n.448+8C>A) n.689+8C>A c.-174+8C>A (n.-174+8C>A) c.316+8C>A (n.316+8C>A) | COSMIC |
11 | g.71442256A= | CA1981490197 | DHCR7 | c.412+7T= (n.412+7T=) c.238+7T= (n.238+7T=) c.448+7T= (n.448+7T=) n.689+7T= c.-174+7T= (n.-174+7T=) c.316+7T= (n.316+7T=) | |
11 | g.71442256A>C | CA6162586 | DHCR7 | c.412+7T>G (n.412+7T>G) c.238+7T>G (n.238+7T>G) c.448+7T>G (n.448+7T>G) n.689+7T>G c.-174+7T>G (n.-174+7T>G) c.316+7T>G (n.316+7T>G) | dbSNP ExAC gnomAD v2 |
11 | g.71442256A>G | CA2614861718 | DHCR7 | c.412+7T>C (n.412+7T>C) c.238+7T>C (n.238+7T>C) c.448+7T>C (n.448+7T>C) n.689+7T>C c.-174+7T>C (n.-174+7T>C) c.316+7T>C (n.316+7T>C) | gnomAD v4 |
11 | g.71442257G>A | CA2792628301 | DHCR7 | c.412+6C>T (n.412+6C>T) c.238+6C>T (n.238+6C>T) c.448+6C>T (n.448+6C>T) n.689+6C>T c.-174+6C>T (n.-174+6C>T) c.316+6C>T (n.316+6C>T) | |
11 | g.71442257_71442290delinsGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT | CA1981490198 | DHCR7 | c.385_412+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC c.211_238+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC c.421_448+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC n.662_689+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC c.-201_-174+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC c.289_316+6delinsATCCAGGAGGGGGCCGTGACTCCTGCAGGTAGCC | |
11 | g.71442258G>A | CA1981490199 | DHCR7 | c.412+5C>T (n.412+5C>T) c.238+5C>T (n.238+5C>T) c.448+5C>T (n.448+5C>T) n.689+5C>T c.-174+5C>T (n.-174+5C>T) c.316+5C>T (n.316+5C>T) | dbSNP gnomAD v4 |
11 | g.71442258G= | CA1981490200 | DHCR7 | c.412+5C= (n.412+5C=) c.238+5C= (n.238+5C=) c.448+5C= (n.448+5C=) n.689+5C= c.-174+5C= (n.-174+5C=) c.316+5C= (n.316+5C=) | |
11 | g.71442258G>T | CA475519611 | DHCR7 | c.412+5C>A (n.412+5C>A) c.238+5C>A (n.238+5C>A) c.448+5C>A (n.448+5C>A) n.689+5C>A c.-174+5C>A (n.-174+5C>A) c.316+5C>A (n.316+5C>A) | |
11 | g.71442260_71442292del | CA6162587 | DHCR7 | c.385_412+5del c.211_238+5del c.421_448+5del n.662_689+5del c.-201_-174+5del c.289_316+5del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442259C= | CA1981490201 | DHCR7 | c.412+4G= (n.412+4G=) c.238+4G= (n.238+4G=) c.448+4G= (n.448+4G=) n.689+4G= c.-174+4G= (n.-174+4G=) c.316+4G= (n.316+4G=) | |
11 | g.71442259C>T | CA6162588 | DHCR7 | c.412+4G>A (n.412+4G>A) c.238+4G>A (n.238+4G>A) c.448+4G>A (n.448+4G>A) n.689+4G>A c.-174+4G>A (n.-174+4G>A) c.316+4G>A (n.316+4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442261_71442286del | CA2695214968 | DHCR7 | c.391_412+4del c.217_238+4del c.427_448+4del n.668_689+4del c.-195_-174+4del c.295_316+4del | |
11 | g.71442263_71442299del | CA2614861733 | DHCR7 | c.380_412+4del c.206_238+4del c.416_448+4del n.657_689+4del c.-206_-174+4del c.284_316+4del | gnomAD v4 |
11 | g.71442260T>A | CA259777 | DHCR7 | c.412+3A>T (n.412+3A>T) c.238+3A>T (n.238+3A>T) c.448+3A>T (n.448+3A>T) n.689+3A>T c.-174+3A>T (n.-174+3A>T) c.316+3A>T (n.316+3A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71442260T>C | CA915948244 | DHCR7 | c.412+3A>G (n.412+3A>G) c.238+3A>G (n.238+3A>G) c.448+3A>G (n.448+3A>G) n.689+3A>G c.-174+3A>G (n.-174+3A>G) c.316+3A>G (n.316+3A>G) | ClinVar dbSNP |
11 | g.71442260T= | CA1981490202 | DHCR7 | c.412+3A= (n.412+3A=) c.238+3A= (n.238+3A=) c.448+3A= (n.448+3A=) n.689+3A= c.-174+3A= (n.-174+3A=) c.316+3A= (n.316+3A=) | |
11 | g.71442261A>C | CA381694737 | DHCR7 | c.412+2T>G (n.412+2T>G) c.238+2T>G (n.238+2T>G) c.448+2T>G (n.448+2T>G) n.689+2T>G c.-174+2T>G (n.-174+2T>G) c.316+2T>G (n.316+2T>G) | gnomAD v4 |
11 | g.71442261A>G | CA381694739 | DHCR7 | c.412+2T>C (n.412+2T>C) c.238+2T>C (n.238+2T>C) c.448+2T>C (n.448+2T>C) n.689+2T>C c.-174+2T>C (n.-174+2T>C) c.316+2T>C (n.316+2T>C) | ClinVar gnomAD v4 |
11 | g.71442261A>T | CA381694738 | DHCR7 | c.412+2T>A (n.412+2T>A) c.238+2T>A (n.238+2T>A) c.448+2T>A (n.448+2T>A) n.689+2T>A c.-174+2T>A (n.-174+2T>A) c.316+2T>A (n.316+2T>A) | |
11 | g.71442266_71442356del | CA259776 | DHCR7 | c.324_412+2del c.150_238+2del c.360_448+2del n.601_689+2del c.-262_-174+2del c.228_316+2del | |
11 | g.71442262C>A | CA381694740 | DHCR7 | c.412+1G>T (n.412+1G>T) c.238+1G>T (n.238+1G>T) c.448+1G>T (n.448+1G>T) n.689+1G>T c.-174+1G>T (n.-174+1G>T) c.316+1G>T (n.316+1G>T) | |
11 | g.71442262C>G | CA381694742 | DHCR7 | c.412+1G>C (n.412+1G>C) c.238+1G>C (n.238+1G>C) c.448+1G>C (n.448+1G>C) n.689+1G>C c.-174+1G>C (n.-174+1G>C) c.316+1G>C (n.316+1G>C) | |
11 | g.71442262C>T | CA381694741 | DHCR7 | c.412+1G>A (n.412+1G>A) c.238+1G>A (n.238+1G>A) c.448+1G>A (n.448+1G>A) n.689+1G>A c.-174+1G>A (n.-174+1G>A) c.316+1G>A (n.316+1G>A) | |
11 | g.71442263C>A | CA381694743 | DHCR7 | c.412G>T (p.Gly138Trp) c.238G>T (p.Gly80Trp) c.448G>T (p.Gly150Trp) n.689G>T c.-174G>T (n.-174G>T) c.316G>T (p.Gly106Trp) | |
11 | g.71442263C>G | CA381694744 | DHCR7 | c.412G>C (p.Gly138Arg) c.238G>C (p.Gly80Arg) c.448G>C (p.Gly150Arg) n.689G>C c.-174G>C (n.-174G>C) c.316G>C (p.Gly106Arg) | |
11 | g.71442263C>T | CA381694745 | DHCR7 | c.412G>A (p.Gly138Arg) c.238G>A (p.Gly80Arg) c.448G>A (p.Gly150Arg) n.689G>A c.-174G>A (n.-174G>A) c.316G>A (p.Gly106Arg) | |
11 | g.71442264T>A | CA475519612 | DHCR7 | c.411A>T (p.Ala137=) c.237A>T (p.Ala79=) c.447A>T (p.Ala149=) n.688A>T c.-175A>T (n.-175A>T) c.315A>T (p.Ala105=) | |
11 | g.71442264T>C | CA475519613 | DHCR7 | c.411A>G (p.Ala137=) c.237A>G (p.Ala79=) c.447A>G (p.Ala149=) n.688A>G c.-175A>G (n.-175A>G) c.315A>G (p.Ala105=) | dbSNP gnomAD v2 |
11 | g.71442264T>G | CA475519614 | DHCR7 | c.411A>C (p.Ala137=) c.237A>C (p.Ala79=) c.447A>C (p.Ala149=) n.688A>C c.-175A>C (n.-175A>C) c.315A>C (p.Ala105=) | |
11 | g.71442264T= | CA1981490203 | DHCR7 | c.411A= (p.Ala137=) c.237A= (p.Ala79=) c.447A= (p.Ala149=) n.688A= c.-175A= (n.-175A=) c.315A= (p.Ala105=) | |
11 | g.71442265G>A | CA381694747 | DHCR7 | c.410C>T (p.Ala137Val) c.236C>T (p.Ala79Val) c.446C>T (p.Ala149Val) n.687C>T c.-176C>T (n.-176C>T) c.314C>T (p.Ala105Val) | gnomAD v4 |
11 | g.71442265G>C | CA381694749 | DHCR7 | c.410C>G (p.Ala137Gly) c.236C>G (p.Ala79Gly) c.446C>G (p.Ala149Gly) n.687C>G c.-176C>G (n.-176C>G) c.314C>G (p.Ala105Gly) | |
11 | g.71442265G>T | CA381694752 | DHCR7 | c.410C>A (p.Ala137Glu) c.236C>A (p.Ala79Glu) c.446C>A (p.Ala149Glu) n.687C>A c.-176C>A (n.-176C>A) c.314C>A (p.Ala105Glu) | |
11 | g.71442266_71442268del | CA2614861785 | DHCR7 | c.408_410del (p.Ala137del) c.234_236del (p.Ala79del) c.444_446del (p.Ala149del) n.685_687del c.-178_-176del (n.-178_-176del) c.312_314del (p.Ala105del) | gnomAD v4 |
11 | g.71442266C>A | CA6162589 | DHCR7 | c.409G>T (p.Ala137Ser) c.235G>T (p.Ala79Ser) c.445G>T (p.Ala149Ser) n.686G>T c.-177G>T (n.-177G>T) c.313G>T (p.Ala105Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442266C= | CA1981490204 | DHCR7 | c.409G= (p.Ala137=) c.235G= (p.Ala79=) c.445G= (p.Ala149=) n.686G= c.-177G= (n.-177G=) c.313G= (p.Ala105=) | |
11 | g.71442266C>G | CA381694756 | DHCR7 | c.409G>C (p.Ala137Pro) c.235G>C (p.Ala79Pro) c.445G>C (p.Ala149Pro) n.686G>C c.-177G>C (n.-177G>C) c.313G>C (p.Ala105Pro) | |
11 | g.71442266C>T | CA381694759 | DHCR7 | c.409G>A (p.Ala137Thr) c.235G>A (p.Ala79Thr) c.445G>A (p.Ala149Thr) n.686G>A c.-177G>A (n.-177G>A) c.313G>A (p.Ala105Thr) | |
11 | g.71442267A= | CA1981490206 | DHCR7 | c.408T= (p.Pro136=) c.234T= (p.Pro78=) c.444T= (p.Pro148=) n.685T= c.-178T= (n.-178T=) c.312T= (p.Pro104=) | |
11 | g.71442267A>C | CA6162590 | DHCR7 | c.408T>G (p.Pro136=) c.234T>G (p.Pro78=) c.444T>G (p.Pro148=) n.685T>G c.-178T>G (n.-178T>G) c.312T>G (p.Pro104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442267A>G | CA475519616 | DHCR7 | c.408T>C (p.Pro136=) c.234T>C (p.Pro78=) c.444T>C (p.Pro148=) n.685T>C c.-178T>C (n.-178T>C) c.312T>C (p.Pro104=) | |
11 | g.71442267A>T | CA475519617 | DHCR7 | c.408T>A (p.Pro136=) c.234T>A (p.Pro78=) c.444T>A (p.Pro148=) n.685T>A c.-178T>A (n.-178T>A) c.312T>A (p.Pro104=) | |
11 | g.71442267_71442275delinsAGGAGTCAC | CA1981490205 | DHCR7 | c.400_408delinsGTGACTCCT (p.Val134=) c.226_234delinsGTGACTCCT (p.Val76=) c.436_444delinsGTGACTCCT (p.Val146=) n.677_685delinsGTGACTCCT c.-186_-178delinsGTGACTCCT (n.-186_-178delinsGTGACTCCT) c.304_312delinsGTGACTCCT (p.Val102=) | |
11 | g.71442268G>A | CA381694770 | DHCR7 | c.407C>T (p.Pro136Leu) c.233C>T (p.Pro78Leu) c.443C>T (p.Pro148Leu) n.684C>T c.-179C>T (n.-179C>T) c.311C>T (p.Pro104Leu) | |
11 | g.71442268G>C | CA381694764 | DHCR7 | c.407C>G (p.Pro136Arg) c.233C>G (p.Pro78Arg) c.443C>G (p.Pro148Arg) n.684C>G c.-179C>G (n.-179C>G) c.311C>G (p.Pro104Arg) | gnomAD v4 |
11 | g.71442268G>T | CA381694768 | DHCR7 | c.407C>A (p.Pro136His) c.233C>A (p.Pro78His) c.443C>A (p.Pro148His) n.684C>A c.-179C>A (n.-179C>A) c.311C>A (p.Pro104His) | |
11 | g.71442270_71442277del | CA6162591 | DHCR7 | c.400_407del (p.Val134CysfsTer?) c.226_233del (p.Val76CysfsTer?) c.436_443del (p.Val146CysfsTer?) n.677_684del c.-186_-179del (n.-186_-179del) c.304_311del (p.Val102CysfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442269G>A | CA381694773 | DHCR7 | c.406C>T (p.Pro136Ser) c.232C>T (p.Pro78Ser) c.442C>T (p.Pro148Ser) n.683C>T c.-180C>T (n.-180C>T) c.310C>T (p.Pro104Ser) | |
11 | g.71442269G>C | CA381694775 | DHCR7 | c.406C>G (p.Pro136Ala) c.232C>G (p.Pro78Ala) c.442C>G (p.Pro148Ala) n.683C>G c.-180C>G (n.-180C>G) c.310C>G (p.Pro104Ala) | |
11 | g.71442269G>T | CA381694778 | DHCR7 | c.406C>A (p.Pro136Thr) c.232C>A (p.Pro78Thr) c.442C>A (p.Pro148Thr) n.683C>A c.-180C>A (n.-180C>A) c.310C>A (p.Pro104Thr) | |
11 | g.71442270A>C | CA475519618 | DHCR7 | c.405T>G (p.Thr135=) c.231T>G (p.Thr77=) c.441T>G (p.Thr147=) n.682T>G c.-181T>G (n.-181T>G) c.309T>G (p.Thr103=) | |
11 | g.71442270A>G | CA475519620 | DHCR7 | c.405T>C (p.Thr135=) c.231T>C (p.Thr77=) c.441T>C (p.Thr147=) n.682T>C c.-181T>C (n.-181T>C) c.309T>C (p.Thr103=) | |
11 | g.71442270A>T | CA475519619 | DHCR7 | c.405T>A (p.Thr135=) c.231T>A (p.Thr77=) c.441T>A (p.Thr147=) n.682T>A c.-181T>A (n.-181T>A) c.309T>A (p.Thr103=) | |
11 | g.71442271G>A | CA381694782 | DHCR7 | c.404C>T (p.Thr135Ile) c.230C>T (p.Thr77Ile) c.440C>T (p.Thr147Ile) n.681C>T c.-182C>T (n.-182C>T) c.308C>T (p.Thr103Ile) | COSMIC COSMIC |
11 | g.71442271G>C | CA381694784 | DHCR7 | c.404C>G (p.Thr135Ser) c.230C>G (p.Thr77Ser) c.440C>G (p.Thr147Ser) n.681C>G c.-182C>G (n.-182C>G) c.308C>G (p.Thr103Ser) | |
11 | g.71442271G>T | CA381694786 | DHCR7 | c.404C>A (p.Thr135Asn) c.230C>A (p.Thr77Asn) c.440C>A (p.Thr147Asn) n.681C>A c.-182C>A (n.-182C>A) c.308C>A (p.Thr103Asn) | |
11 | g.71442272T>A | CA381694788 | DHCR7 | c.403A>T (p.Thr135Ser) c.229A>T (p.Thr77Ser) c.439A>T (p.Thr147Ser) n.680A>T c.-183A>T (n.-183A>T) c.307A>T (p.Thr103Ser) | |
11 | g.71442272T>C | CA381694790 | DHCR7 | c.403A>G (p.Thr135Ala) c.229A>G (p.Thr77Ala) c.439A>G (p.Thr147Ala) n.680A>G c.-183A>G (n.-183A>G) c.307A>G (p.Thr103Ala) | |
11 | g.71442272T>G | CA381694791 | DHCR7 | c.403A>C (p.Thr135Pro) c.229A>C (p.Thr77Pro) c.439A>C (p.Thr147Pro) n.680A>C c.-183A>C (n.-183A>C) c.307A>C (p.Thr103Pro) | |
11 | g.71442273C>A | CA475519621 | DHCR7 | c.402G>T (p.Val134=) c.228G>T (p.Val76=) c.438G>T (p.Val146=) n.679G>T c.-184G>T (n.-184G>T) c.306G>T (p.Val102=) | |
11 | g.71442273C>G | CA475519622 | DHCR7 | c.402G>C (p.Val134=) c.228G>C (p.Val76=) c.438G>C (p.Val146=) n.679G>C c.-184G>C (n.-184G>C) c.306G>C (p.Val102=) | |
11 | g.71442273C>T | CA475519623 | DHCR7 | c.402G>A (p.Val134=) c.228G>A (p.Val76=) c.438G>A (p.Val146=) n.679G>A c.-184G>A (n.-184G>A) c.306G>A (p.Val102=) | gnomAD v4 |
11 | g.71442274_71442275del | CA2580085016 | DHCR7 | c.401_402del (p.Val134AspfsTer?) c.227_228del (p.Val76AspfsTer?) c.437_438del (p.Val146AspfsTer?) n.678_679del c.-185_-184del (n.-185_-184del) c.305_306del (p.Val102AspfsTer?) | ClinVar |
11 | g.71442274A>C | CA381694797 | DHCR7 | c.401T>G (p.Val134Gly) c.227T>G (p.Val76Gly) c.437T>G (p.Val146Gly) n.678T>G c.-185T>G (n.-185T>G) c.305T>G (p.Val102Gly) | |
11 | g.71442274A>G | CA381694798 | DHCR7 | c.401T>C (p.Val134Ala) c.227T>C (p.Val76Ala) c.437T>C (p.Val146Ala) n.678T>C c.-185T>C (n.-185T>C) c.305T>C (p.Val102Ala) | gnomAD v4 |
11 | g.71442274A>T | CA381694794 | DHCR7 | c.401T>A (p.Val134Glu) c.227T>A (p.Val76Glu) c.437T>A (p.Val146Glu) n.678T>A c.-185T>A (n.-185T>A) c.305T>A (p.Val102Glu) | |
11 | g.71442275C>A | CA221668 | DHCR7 | c.400G>T (p.Val134Leu) c.226G>T (p.Val76Leu) c.436G>T (p.Val146Leu) n.677G>T c.-186G>T (n.-186G>T) c.304G>T (p.Val102Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442275C= | CA1981490207 | DHCR7 | c.400G= (p.Val134=) c.226G= (p.Val76=) c.436G= (p.Val146=) n.677G= c.-186G= (n.-186G=) c.304G= (p.Val102=) | |
11 | g.71442275C>G | CA381694803 | DHCR7 | c.400G>C (p.Val134Leu) c.226G>C (p.Val76Leu) c.436G>C (p.Val146Leu) n.677G>C c.-186G>C (n.-186G>C) c.304G>C (p.Val102Leu) | |
11 | g.71442275C>T | CA381694805 | DHCR7 | c.400G>A (p.Val134Met) c.226G>A (p.Val76Met) c.436G>A (p.Val146Met) n.677G>A c.-186G>A (n.-186G>A) c.304G>A (p.Val102Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.71442276G>A | CA246033 | DHCR7 | c.399C>T (p.Ala133=) c.225C>T (p.Ala75=) c.435C>T (p.Ala145=) n.676C>T c.-187C>T (n.-187C>T) c.303C>T (p.Ala101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442276G>C | CA475519625 | DHCR7 | c.399C>G (p.Ala133=) c.225C>G (p.Ala75=) c.435C>G (p.Ala145=) n.676C>G c.-187C>G (n.-187C>G) c.303C>G (p.Ala101=) | |
11 | g.71442276G= | CA1981490208 | DHCR7 | c.399C= (p.Ala133=) c.225C= (p.Ala75=) c.435C= (p.Ala145=) n.676C= c.-187C= (n.-187C=) c.303C= (p.Ala101=) | |
11 | g.71442276G>T | CA475519624 | DHCR7 | c.399C>A (p.Ala133=) c.225C>A (p.Ala75=) c.435C>A (p.Ala145=) n.676C>A c.-187C>A (n.-187C>A) c.303C>A (p.Ala101=) | |
11 | g.71442277G>A | CA381694810 | DHCR7 | c.398C>T (p.Ala133Val) c.224C>T (p.Ala75Val) c.434C>T (p.Ala145Val) n.675C>T c.-188C>T (n.-188C>T) c.302C>T (p.Ala101Val) | |
11 | g.71442277G>C | CA381694813 | DHCR7 | c.398C>G (p.Ala133Gly) c.224C>G (p.Ala75Gly) c.434C>G (p.Ala145Gly) n.675C>G c.-188C>G (n.-188C>G) c.302C>G (p.Ala101Gly) | gnomAD v4 |
11 | g.71442277G>T | CA381694814 | DHCR7 | c.398C>A (p.Ala133Asp) c.224C>A (p.Ala75Asp) c.434C>A (p.Ala145Asp) n.675C>A c.-188C>A (n.-188C>A) c.302C>A (p.Ala101Asp) | |
11 | g.71442278C>A | CA381694816 | DHCR7 | c.397G>T (p.Ala133Ser) c.223G>T (p.Ala75Ser) c.433G>T (p.Ala145Ser) n.674G>T c.-189G>T (n.-189G>T) c.301G>T (p.Ala101Ser) | |
11 | g.71442278C= | CA1981490209 | DHCR7 | c.397G= (p.Ala133=) c.223G= (p.Ala75=) c.433G= (p.Ala145=) n.674G= c.-189G= (n.-189G=) c.301G= (p.Ala101=) | |
11 | g.71442278C>G | CA381694817 | DHCR7 | c.397G>C (p.Ala133Pro) c.223G>C (p.Ala75Pro) c.433G>C (p.Ala145Pro) n.674G>C c.-189G>C (n.-189G>C) c.301G>C (p.Ala101Pro) | |
11 | g.71442278C>T | CA6162592 | DHCR7 | c.397G>A (p.Ala133Thr) c.223G>A (p.Ala75Thr) c.433G>A (p.Ala145Thr) n.674G>A c.-189G>A (n.-189G>A) c.301G>A (p.Ala101Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442282del | CA2614861846 | DHCR7 | c.397del (p.Ala133ProfsTer2) c.223del (p.Ala75ProfsTer2) c.433del (p.Ala145ProfsTer2) n.674del c.-189del (n.-189del) c.301del (p.Ala101ProfsTer2) | gnomAD v4 |
11 | g.71442279C>A | CA475519626 | DHCR7 | c.396G>T (p.Gly132=) c.222G>T (p.Gly74=) c.432G>T (p.Gly144=) n.673G>T c.-190G>T (n.-190G>T) c.300G>T (p.Gly100=) | |
11 | g.71442279C= | CA1981490210 | DHCR7 | c.396G= (p.Gly132=) c.222G= (p.Gly74=) c.432G= (p.Gly144=) n.673G= c.-190G= (n.-190G=) c.300G= (p.Gly100=) | |
11 | g.71442279C>G | CA475519627 | DHCR7 | c.396G>C (p.Gly132=) c.222G>C (p.Gly74=) c.432G>C (p.Gly144=) n.673G>C c.-190G>C (n.-190G>C) c.300G>C (p.Gly100=) | dbSNP |
11 | g.71442279C>T | CA6162593 | DHCR7 | c.396G>A (p.Gly132=) c.222G>A (p.Gly74=) c.432G>A (p.Gly144=) n.673G>A c.-190G>A (n.-190G>A) c.300G>A (p.Gly100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442280C>A | CA381694823 | DHCR7 | c.395G>T (p.Gly132Val) c.221G>T (p.Gly74Val) c.431G>T (p.Gly144Val) n.672G>T c.-191G>T (n.-191G>T) c.299G>T (p.Gly100Val) | |
11 | g.71442280C= | CA1981490211 | DHCR7 | c.395G= (p.Gly132=) c.221G= (p.Gly74=) c.431G= (p.Gly144=) n.672G= c.-191G= (n.-191G=) c.299G= (p.Gly100=) | |
11 | g.71442280C>G | CA381694820 | DHCR7 | c.395G>C (p.Gly132Ala) c.221G>C (p.Gly74Ala) c.431G>C (p.Gly144Ala) n.672G>C c.-191G>C (n.-191G>C) c.299G>C (p.Gly100Ala) | |
11 | g.71442280C>T | CA6162594 | DHCR7 | c.395G>A (p.Gly132Glu) c.221G>A (p.Gly74Glu) c.431G>A (p.Gly144Glu) n.672G>A c.-191G>A (n.-191G>A) c.299G>A (p.Gly100Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442281C>A | CA381694827 | DHCR7 | c.394G>T (p.Gly132Trp) c.220G>T (p.Gly74Trp) c.430G>T (p.Gly144Trp) n.671G>T c.-192G>T (n.-192G>T) c.298G>T (p.Gly100Trp) | |
11 | g.71442281C= | CA1981490212 | DHCR7 | c.394G= (p.Gly132=) c.220G= (p.Gly74=) c.430G= (p.Gly144=) n.671G= c.-192G= (n.-192G=) c.298G= (p.Gly100=) | |
11 | g.71442281C>G | CA381694828 | DHCR7 | c.394G>C (p.Gly132Arg) c.220G>C (p.Gly74Arg) c.430G>C (p.Gly144Arg) n.671G>C c.-192G>C (n.-192G>C) c.298G>C (p.Gly100Arg) | dbSNP |
11 | g.71442281C>T | CA381694830 | DHCR7 | c.394G>A (p.Gly132Arg) c.220G>A (p.Gly74Arg) c.430G>A (p.Gly144Arg) n.671G>A c.-192G>A (n.-192G>A) c.298G>A (p.Gly100Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442282C>A | CA381694831 | DHCR7 | c.393G>T (p.Glu131Asp) c.219G>T (p.Glu73Asp) c.429G>T (p.Glu143Asp) n.670G>T c.-193G>T (n.-193G>T) c.297G>T (p.Glu99Asp) | |
11 | g.71442282C>G | CA381694833 | DHCR7 | c.393G>C (p.Glu131Asp) c.219G>C (p.Glu73Asp) c.429G>C (p.Glu143Asp) n.670G>C c.-193G>C (n.-193G>C) c.297G>C (p.Glu99Asp) | |
11 | g.71442282C>T | CA475519628 | DHCR7 | c.393G>A (p.Glu131=) c.219G>A (p.Glu73=) c.429G>A (p.Glu143=) n.670G>A c.-193G>A (n.-193G>A) c.297G>A (p.Glu99=) | ClinVar dbSNP COSMIC COSMIC |
11 | g.71442283T>A | CA381694836 | DHCR7 | c.392A>T (p.Glu131Val) c.218A>T (p.Glu73Val) c.428A>T (p.Glu143Val) n.669A>T c.-194A>T (n.-194A>T) c.296A>T (p.Glu99Val) | |
11 | g.71442283T>C | CA381694838 | DHCR7 | c.392A>G (p.Glu131Gly) c.218A>G (p.Glu73Gly) c.428A>G (p.Glu143Gly) n.669A>G c.-194A>G (n.-194A>G) c.296A>G (p.Glu99Gly) | |
11 | g.71442283T>G | CA381694840 | DHCR7 | c.392A>C (p.Glu131Ala) c.218A>C (p.Glu73Ala) c.428A>C (p.Glu143Ala) n.669A>C c.-194A>C (n.-194A>C) c.296A>C (p.Glu99Ala) | |
11 | g.71442284C>A | CA381694844 | DHCR7 | c.391G>T (p.Glu131Ter) c.217G>T (p.Glu73Ter) c.427G>T (p.Glu143Ter) n.668G>T c.-195G>T (n.-195G>T) c.295G>T (p.Glu99Ter) | |
11 | g.71442284C= | CA1981490213 | DHCR7 | c.391G= (p.Glu131=) c.217G= (p.Glu73=) c.427G= (p.Glu143=) n.668G= c.-195G= (n.-195G=) c.295G= (p.Glu99=) | |
11 | g.71442284C>G | CA381694847 | DHCR7 | c.391G>C (p.Glu131Gln) c.217G>C (p.Glu73Gln) c.427G>C (p.Glu143Gln) n.668G>C c.-195G>C (n.-195G>C) c.295G>C (p.Glu99Gln) | dbSNP |
11 | g.71442284C>T | CA381694849 | DHCR7 | c.391G>A (p.Glu131Lys) c.217G>A (p.Glu73Lys) c.427G>A (p.Glu143Lys) n.668G>A c.-195G>A (n.-195G>A) c.295G>A (p.Glu99Lys) | |
11 | g.71442285C>A | CA381694852 | DHCR7 | c.390G>T (p.Gln130His) c.216G>T (p.Gln72His) c.426G>T (p.Gln142His) n.667G>T c.-196G>T (n.-196G>T) c.294G>T (p.Gln98His) | |
11 | g.71442285C>G | CA381694855 | DHCR7 | c.390G>C (p.Gln130His) c.216G>C (p.Gln72His) c.426G>C (p.Gln142His) n.667G>C c.-196G>C (n.-196G>C) c.294G>C (p.Gln98His) | |
11 | g.71442285C>T | CA475519629 | DHCR7 | c.390G>A (p.Gln130=) c.216G>A (p.Gln72=) c.426G>A (p.Gln142=) n.667G>A c.-196G>A (n.-196G>A) c.294G>A (p.Gln98=) | |
11 | g.71442286T>A | CA381694860 | DHCR7 | c.389A>T (p.Gln130Leu) c.215A>T (p.Gln72Leu) c.425A>T (p.Gln142Leu) n.666A>T c.-197A>T (n.-197A>T) c.293A>T (p.Gln98Leu) | |
11 | g.71442286T>C | CA381694863 | DHCR7 | c.389A>G (p.Gln130Arg) c.215A>G (p.Gln72Arg) c.425A>G (p.Gln142Arg) n.666A>G c.-197A>G (n.-197A>G) c.293A>G (p.Gln98Arg) | |
11 | g.71442286T>G | CA381694858 | DHCR7 | c.389A>C (p.Gln130Pro) c.215A>C (p.Gln72Pro) c.425A>C (p.Gln142Pro) n.666A>C c.-197A>C (n.-197A>C) c.293A>C (p.Gln98Pro) | |
11 | g.71442287G>A | CA381694867 | DHCR7 | c.388C>T (p.Gln130Ter) c.214C>T (p.Gln72Ter) c.424C>T (p.Gln142Ter) n.665C>T c.-198C>T (n.-198C>T) c.292C>T (p.Gln98Ter) | ClinVar dbSNP |
11 | g.71442287G>C | CA381694869 | DHCR7 | c.388C>G (p.Gln130Glu) c.214C>G (p.Gln72Glu) c.424C>G (p.Gln142Glu) n.665C>G c.-198C>G (n.-198C>G) c.292C>G (p.Gln98Glu) | gnomAD v4 |
11 | g.71442287G= | CA1981490214 | DHCR7 | c.388C= (p.Gln130=) c.214C= (p.Gln72=) c.424C= (p.Gln142=) n.665C= c.-198C= (n.-198C=) c.292C= (p.Gln98=) | |
11 | g.71442287G>T | CA381694870 | DHCR7 | c.388C>A (p.Gln130Lys) c.214C>A (p.Gln72Lys) c.424C>A (p.Gln142Lys) n.665C>A c.-198C>A (n.-198C>A) c.292C>A (p.Gln98Lys) | |
11 | g.71442288G>A | CA475519630 | DHCR7 | c.387C>T (p.Ile129=) c.213C>T (p.Ile71=) c.423C>T (p.Ile141=) n.664C>T c.-199C>T (n.-199C>T) c.291C>T (p.Ile97=) | gnomAD v4 |
11 | g.71442288G>C | CA381694873 | DHCR7 | c.387C>G (p.Ile129Met) c.213C>G (p.Ile71Met) c.423C>G (p.Ile141Met) n.664C>G c.-199C>G (n.-199C>G) c.291C>G (p.Ile97Met) | gnomAD v4 |
11 | g.71442288G>T | CA475519631 | DHCR7 | c.387C>A (p.Ile129=) c.213C>A (p.Ile71=) c.423C>A (p.Ile141=) n.664C>A c.-199C>A (n.-199C>A) c.291C>A (p.Ile97=) | |
11 | g.71442289A= | CA1981490215 | DHCR7 | c.386T= (p.Ile129=) c.212T= (p.Ile71=) c.422T= (p.Ile141=) n.663T= c.-200T= (n.-200T=) c.290T= (p.Ile97=) | |
11 | g.71442289A>C | CA381694876 | DHCR7 | c.386T>G (p.Ile129Ser) c.212T>G (p.Ile71Ser) c.422T>G (p.Ile141Ser) n.663T>G c.-200T>G (n.-200T>G) c.290T>G (p.Ile97Ser) | |
11 | g.71442289A>G | CA6162595 | DHCR7 | c.386T>C (p.Ile129Thr) c.212T>C (p.Ile71Thr) c.422T>C (p.Ile141Thr) n.663T>C c.-200T>C (n.-200T>C) c.290T>C (p.Ile97Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442289A>T | CA381694880 | DHCR7 | c.386T>A (p.Ile129Asn) c.212T>A (p.Ile71Asn) c.422T>A (p.Ile141Asn) n.663T>A c.-200T>A (n.-200T>A) c.290T>A (p.Ile97Asn) | |
11 | g.71442290T>A | CA381694884 | DHCR7 | c.385A>T (p.Ile129Phe) c.211A>T (p.Ile71Phe) c.421A>T (p.Ile141Phe) n.662A>T c.-201A>T (n.-201A>T) c.289A>T (p.Ile97Phe) | |
11 | g.71442290T>C | CA6162596 | DHCR7 | c.385A>G (p.Ile129Val) c.211A>G (p.Ile71Val) c.421A>G (p.Ile141Val) n.662A>G c.-201A>G (n.-201A>G) c.289A>G (p.Ile97Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442290T>G | CA224280104 | DHCR7 | c.385A>C (p.Ile129Leu) c.211A>C (p.Ile71Leu) c.421A>C (p.Ile141Leu) n.662A>C c.-201A>C (n.-201A>C) c.289A>C (p.Ile97Leu) | dbSNP |
11 | g.71442290T= | CA1981490216 | DHCR7 | c.385A= (p.Ile129=) c.211A= (p.Ile71=) c.421A= (p.Ile141=) n.662A= c.-201A= (n.-201A=) c.289A= (p.Ile97=) | |
11 | g.71442291G>A | CA6162597 | DHCR7 | c.384C>T (p.Gly128=) c.210C>T (p.Gly70=) c.420C>T (p.Gly140=) n.661C>T c.-202C>T (n.-202C>T) c.288C>T (p.Gly96=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442291G>C | CA475519632 | DHCR7 | c.384C>G (p.Gly128=) c.210C>G (p.Gly70=) c.420C>G (p.Gly140=) n.661C>G c.-202C>G (n.-202C>G) c.288C>G (p.Gly96=) | |
11 | g.71442291G= | CA1981490217 | DHCR7 | c.384C= (p.Gly128=) c.210C= (p.Gly70=) c.420C= (p.Gly140=) n.661C= c.-202C= (n.-202C=) c.288C= (p.Gly96=) | |
11 | g.71442291G>T | CA475519633 | DHCR7 | c.384C>A (p.Gly128=) c.210C>A (p.Gly70=) c.420C>A (p.Gly140=) n.661C>A c.-202C>A (n.-202C>A) c.288C>A (p.Gly96=) | |
11 | g.71442292C>A | CA381694893 | DHCR7 | c.383G>T (p.Gly128Val) c.209G>T (p.Gly70Val) c.419G>T (p.Gly140Val) n.660G>T c.-203G>T (n.-203G>T) c.287G>T (p.Gly96Val) | dbSNP |
11 | g.71442292C= | CA1981490218 | DHCR7 | c.383G= (p.Gly128=) c.209G= (p.Gly70=) c.419G= (p.Gly140=) n.660G= c.-203G= (n.-203G=) c.287G= (p.Gly96=) | |
11 | g.71442292C>G | CA381694894 | DHCR7 | c.383G>C (p.Gly128Ala) c.209G>C (p.Gly70Ala) c.419G>C (p.Gly140Ala) n.660G>C c.-203G>C (n.-203G>C) c.287G>C (p.Gly96Ala) | |
11 | g.71442292C>T | CA381694896 | DHCR7 | c.383G>A (p.Gly128Asp) c.209G>A (p.Gly70Asp) c.419G>A (p.Gly140Asp) n.660G>A c.-203G>A (n.-203G>A) c.287G>A (p.Gly96Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442293C>A | CA381694899 | DHCR7 | c.382G>T (p.Gly128Cys) c.208G>T (p.Gly70Cys) c.418G>T (p.Gly140Cys) n.659G>T c.-204G>T (n.-204G>T) c.286G>T (p.Gly96Cys) | |
11 | g.71442293C= | CA1981490219 | DHCR7 | c.382G= (p.Gly128=) c.208G= (p.Gly70=) c.418G= (p.Gly140=) n.659G= c.-204G= (n.-204G=) c.286G= (p.Gly96=) | |
11 | g.71442293C>G | CA381694903 | DHCR7 | c.382G>C (p.Gly128Arg) c.208G>C (p.Gly70Arg) c.418G>C (p.Gly140Arg) n.659G>C c.-204G>C (n.-204G>C) c.286G>C (p.Gly96Arg) | |
11 | g.71442293C>T | CA381694901 | DHCR7 | c.382G>A (p.Gly128Ser) c.208G>A (p.Gly70Ser) c.418G>A (p.Gly140Ser) n.659G>A c.-204G>A (n.-204G>A) c.286G>A (p.Gly96Ser) | dbSNP gnomAD v4 |
11 | g.71442294T>A | CA475519634 | DHCR7 | c.381A>T (p.Gly127=) c.207A>T (p.Gly69=) c.417A>T (p.Gly139=) n.658A>T c.-205A>T (n.-205A>T) c.285A>T (p.Gly95=) | |
11 | g.71442294T>C | CA475519635 | DHCR7 | c.381A>G (p.Gly127=) c.207A>G (p.Gly69=) c.417A>G (p.Gly139=) n.658A>G c.-205A>G (n.-205A>G) c.285A>G (p.Gly95=) | ClinVar |
11 | g.71442294T>G | CA475519636 | DHCR7 | c.381A>C (p.Gly127=) c.207A>C (p.Gly69=) c.417A>C (p.Gly139=) n.658A>C c.-205A>C (n.-205A>C) c.285A>C (p.Gly95=) | |
11 | g.71442295C>A | CA381694905 | DHCR7 | c.380G>T (p.Gly127Val) c.206G>T (p.Gly69Val) c.416G>T (p.Gly139Val) n.657G>T c.-206G>T (n.-206G>T) c.284G>T (p.Gly95Val) | |
11 | g.71442295C= | CA1981490220 | DHCR7 | c.380G= (p.Gly127=) c.206G= (p.Gly69=) c.416G= (p.Gly139=) n.657G= c.-206G= (n.-206G=) c.284G= (p.Gly95=) | |
11 | g.71442295C>G | CA381694907 | DHCR7 | c.380G>C (p.Gly127Ala) c.206G>C (p.Gly69Ala) c.416G>C (p.Gly139Ala) n.657G>C c.-206G>C (n.-206G>C) c.284G>C (p.Gly95Ala) | |
11 | g.71442295C>T | CA381694908 | DHCR7 | c.380G>A (p.Gly127Glu) c.206G>A (p.Gly69Glu) c.416G>A (p.Gly139Glu) n.657G>A c.-206G>A (n.-206G>A) c.284G>A (p.Gly95Glu) | dbSNP gnomAD v4 |
11 | g.71442296C>A | CA381694912 | DHCR7 | c.379G>T (p.Gly127Ter) c.205G>T (p.Gly69Ter) c.415G>T (p.Gly139Ter) n.656G>T c.-207G>T (n.-207G>T) c.283G>T (p.Gly95Ter) | |
11 | g.71442296C>G | CA381694915 | DHCR7 | c.379G>C (p.Gly127Arg) c.205G>C (p.Gly69Arg) c.415G>C (p.Gly139Arg) n.656G>C c.-207G>C (n.-207G>C) c.283G>C (p.Gly95Arg) | |
11 | g.71442296C>T | CA381694918 | DHCR7 | c.379G>A (p.Gly127Arg) c.205G>A (p.Gly69Arg) c.415G>A (p.Gly139Arg) n.656G>A c.-207G>A (n.-207G>A) c.283G>A (p.Gly95Arg) | gnomAD v4 |
11 | g.71442297T>A | CA475519637 | DHCR7 | c.378A>T (p.Val126=) c.204A>T (p.Val68=) c.414A>T (p.Val138=) n.655A>T c.-208A>T (n.-208A>T) c.282A>T (p.Val94=) | |
11 | g.71442297T>C | CA475519638 | DHCR7 | c.378A>G (p.Val126=) c.204A>G (p.Val68=) c.414A>G (p.Val138=) n.655A>G c.-208A>G (n.-208A>G) c.282A>G (p.Val94=) | ClinVar |
11 | g.71442297T>G | CA475519639 | DHCR7 | c.378A>C (p.Val126=) c.204A>C (p.Val68=) c.414A>C (p.Val138=) n.655A>C c.-208A>C (n.-208A>C) c.282A>C (p.Val94=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442297T= | CA1981490221 | DHCR7 | c.378A= (p.Val126=) c.204A= (p.Val68=) c.414A= (p.Val138=) n.655A= c.-208A= (n.-208A=) c.282A= (p.Val94=) | |
11 | g.71442298A>C | CA381694922 | DHCR7 | c.377T>G (p.Val126Gly) c.203T>G (p.Val68Gly) c.413T>G (p.Val138Gly) n.654T>G c.-209T>G (n.-209T>G) c.281T>G (p.Val94Gly) | |
11 | g.71442298A>G | CA381694924 | DHCR7 | c.377T>C (p.Val126Ala) c.203T>C (p.Val68Ala) c.413T>C (p.Val138Ala) n.654T>C c.-209T>C (n.-209T>C) c.281T>C (p.Val94Ala) | |
11 | g.71442298A>T | CA381694926 | DHCR7 | c.377T>A (p.Val126Glu) c.203T>A (p.Val68Glu) c.413T>A (p.Val138Glu) n.654T>A c.-209T>A (n.-209T>A) c.281T>A (p.Val94Glu) | |
11 | g.71442299C>A | CA381694928 | DHCR7 | c.376G>T (p.Val126Leu) c.202G>T (p.Val68Leu) c.412G>T (p.Val138Leu) n.653G>T c.-210G>T (n.-210G>T) c.280G>T (p.Val94Leu) | |
11 | g.71442299C= | CA1981490222 | DHCR7 | c.376G= (p.Val126=) c.202G= (p.Val68=) c.412G= (p.Val138=) n.653G= c.-210G= (n.-210G=) c.280G= (p.Val94=) | |
11 | g.71442299C>G | CA381694930 | DHCR7 | c.376G>C (p.Val126Leu) c.202G>C (p.Val68Leu) c.412G>C (p.Val138Leu) n.653G>C c.-210G>C (n.-210G>C) c.280G>C (p.Val94Leu) | |
11 | g.71442299C>T | CA246030 | DHCR7 | c.376G>A (p.Val126Ile) c.202G>A (p.Val68Ile) c.412G>A (p.Val138Ile) n.653G>A c.-210G>A (n.-210G>A) c.280G>A (p.Val94Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442300G>A | CA6162599 | DHCR7 | c.375C>T (p.Tyr125=) c.201C>T (p.Tyr67=) c.411C>T (p.Tyr137=) n.652C>T c.-211C>T (n.-211C>T) c.279C>T (p.Tyr93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442300G>C | CA381694936 | DHCR7 | c.375C>G (p.Tyr125Ter) c.201C>G (p.Tyr67Ter) c.411C>G (p.Tyr137Ter) n.652C>G c.-211C>G (n.-211C>G) c.279C>G (p.Tyr93Ter) | ClinVar |
11 | g.71442300G= | CA1981490224 | DHCR7 | c.375C= (p.Tyr125=) c.201C= (p.Tyr67=) c.411C= (p.Tyr137=) n.652C= c.-211C= (n.-211C=) c.279C= (p.Tyr93=) | |
11 | g.71442300G>T | CA381694934 | DHCR7 | c.375C>A (p.Tyr125Ter) c.201C>A (p.Tyr67Ter) c.411C>A (p.Tyr137Ter) n.652C>A c.-211C>A (n.-211C>A) c.279C>A (p.Tyr93Ter) | ClinVar |
11 | g.71442300_71442316delinsGTAGCCGGGTAGAAACT | CA1981490223 | DHCR7 | c.359_375delinsAGTTTCTACCCGGCTAC (p.Lys120=) c.185_201delinsAGTTTCTACCCGGCTAC (p.Lys62=) c.395_411delinsAGTTTCTACCCGGCTAC (p.Lys132=) n.636_652delinsAGTTTCTACCCGGCTAC c.-227_-211delinsAGTTTCTACCCGGCTAC (n.-227_-211delinsAGTTTCTACCCGGCTAC) c.263_279delinsAGTTTCTACCCGGCTAC (p.Lys88=) | |
11 | g.71442301T>A | CA381694938 | DHCR7 | c.374A>T (p.Tyr125Phe) c.200A>T (p.Tyr67Phe) c.410A>T (p.Tyr137Phe) n.651A>T c.-212A>T (n.-212A>T) c.278A>T (p.Tyr93Phe) | |
11 | g.71442301T>C | CA381694941 | DHCR7 | c.374A>G (p.Tyr125Cys) c.200A>G (p.Tyr67Cys) c.410A>G (p.Tyr137Cys) n.651A>G c.-212A>G (n.-212A>G) c.278A>G (p.Tyr93Cys) | ClinVar dbSNP |
11 | g.71442301T>G | CA381694943 | DHCR7 | c.374A>C (p.Tyr125Ser) c.200A>C (p.Tyr67Ser) c.410A>C (p.Tyr137Ser) n.651A>C c.-212A>C (n.-212A>C) c.278A>C (p.Tyr93Ser) | |
11 | g.71442303_71442318del | CA6162598 | DHCR7 | c.359_374del (p.Lys120ThrfsTer2) c.185_200del (p.Lys62ThrfsTer2) c.395_410del (p.Lys132ThrfsTer2) n.636_651del c.-227_-212del (n.-227_-212del) c.263_278del (p.Lys88ThrfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442302A= | CA1981490225 | DHCR7 | c.373T= (p.Tyr125=) c.199T= (p.Tyr67=) c.409T= (p.Tyr137=) n.650T= c.-213T= (n.-213T=) c.277T= (p.Tyr93=) | |
11 | g.71442302A>C | CA381694946 | DHCR7 | c.373T>G (p.Tyr125Asp) c.199T>G (p.Tyr67Asp) c.409T>G (p.Tyr137Asp) n.650T>G c.-213T>G (n.-213T>G) c.277T>G (p.Tyr93Asp) | |
11 | g.71442302A>G | CA381694948 | DHCR7 | c.373T>C (p.Tyr125His) c.199T>C (p.Tyr67His) c.409T>C (p.Tyr137His) n.650T>C c.-213T>C (n.-213T>C) c.277T>C (p.Tyr93His) | ClinVar dbSNP |
11 | g.71442302A>T | CA381694950 | DHCR7 | c.373T>A (p.Tyr125Asn) c.199T>A (p.Tyr67Asn) c.409T>A (p.Tyr137Asn) n.650T>A c.-213T>A (n.-213T>A) c.277T>A (p.Tyr93Asn) | |
11 | g.71442303G>A | CA475519641 | DHCR7 | c.372C>T (p.Gly124=) c.198C>T (p.Gly66=) c.408C>T (p.Gly136=) n.649C>T c.-214C>T (n.-214C>T) c.276C>T (p.Gly92=) | |
11 | g.71442303G>C | CA475519642 | DHCR7 | c.372C>G (p.Gly124=) c.198C>G (p.Gly66=) c.408C>G (p.Gly136=) n.649C>G c.-214C>G (n.-214C>G) c.276C>G (p.Gly92=) | |
11 | g.71442303G>T | CA475519643 | DHCR7 | c.372C>A (p.Gly124=) c.198C>A (p.Gly66=) c.408C>A (p.Gly136=) n.649C>A c.-214C>A (n.-214C>A) c.276C>A (p.Gly92=) | |
11 | g.71442304C>A | CA381694953 | DHCR7 | c.371G>T (p.Gly124Val) c.197G>T (p.Gly66Val) c.407G>T (p.Gly136Val) n.648G>T c.-215G>T (n.-215G>T) c.275G>T (p.Gly92Val) | |
11 | g.71442304C>G | CA381694954 | DHCR7 | c.371G>C (p.Gly124Ala) c.197G>C (p.Gly66Ala) c.407G>C (p.Gly136Ala) n.648G>C c.-215G>C (n.-215G>C) c.275G>C (p.Gly92Ala) | gnomAD v4 |
11 | g.71442304C>T | CA381694957 | DHCR7 | c.371G>A (p.Gly124Asp) c.197G>A (p.Gly66Asp) c.407G>A (p.Gly136Asp) n.648G>A c.-215G>A (n.-215G>A) c.275G>A (p.Gly92Asp) | |
11 | g.71442305C>A | CA381694961 | DHCR7 | c.370G>T (p.Gly124Cys) c.196G>T (p.Gly66Cys) c.406G>T (p.Gly136Cys) n.647G>T c.-216G>T (n.-216G>T) c.274G>T (p.Gly92Cys) | |
11 | g.71442305C= | CA1981490226 | DHCR7 | c.370G= (p.Gly124=) c.196G= (p.Gly66=) c.406G= (p.Gly136=) n.647G= c.-216G= (n.-216G=) c.274G= (p.Gly92=) | |
11 | g.71442305C>G | CA6162600 | DHCR7 | c.370G>C (p.Gly124Arg) c.196G>C (p.Gly66Arg) c.406G>C (p.Gly136Arg) n.647G>C c.-216G>C (n.-216G>C) c.274G>C (p.Gly92Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442305C>T | CA224280112 | DHCR7 | c.370G>A (p.Gly124Ser) c.196G>A (p.Gly66Ser) c.406G>A (p.Gly136Ser) n.647G>A c.-216G>A (n.-216G>A) c.274G>A (p.Gly92Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71442306G>A | CA6162601 | DHCR7 | c.369C>T (p.Pro123=) c.195C>T (p.Pro65=) c.405C>T (p.Pro135=) n.646C>T c.-217C>T (n.-217C>T) c.273C>T (p.Pro91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442306G>C | CA6162602 | DHCR7 | c.369C>G (p.Pro123=) c.195C>G (p.Pro65=) c.405C>G (p.Pro135=) n.646C>G c.-217C>G (n.-217C>G) c.273C>G (p.Pro91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442306G= | CA1981490227 | DHCR7 | c.369C= (p.Pro123=) c.195C= (p.Pro65=) c.405C= (p.Pro135=) n.646C= c.-217C= (n.-217C=) c.273C= (p.Pro91=) | |
11 | g.71442306G>T | CA475519644 | DHCR7 | c.369C>A (p.Pro123=) c.195C>A (p.Pro65=) c.405C>A (p.Pro135=) n.646C>A c.-217C>A (n.-217C>A) c.273C>A (p.Pro91=) | ClinVar |
11 | g.71442307G>A | CA381694968 | DHCR7 | c.368C>T (p.Pro123Leu) c.194C>T (p.Pro65Leu) c.404C>T (p.Pro135Leu) n.645C>T c.-218C>T (n.-218C>T) c.272C>T (p.Pro91Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442307G>C | CA381694970 | DHCR7 | c.368C>G (p.Pro123Arg) c.194C>G (p.Pro65Arg) c.404C>G (p.Pro135Arg) n.645C>G c.-218C>G (n.-218C>G) c.272C>G (p.Pro91Arg) | |
11 | g.71442307G= | CA1981490228 | DHCR7 | c.368C= (p.Pro123=) c.194C= (p.Pro65=) c.404C= (p.Pro135=) n.645C= c.-218C= (n.-218C=) c.272C= (p.Pro91=) | |
11 | g.71442307G>T | CA381694972 | DHCR7 | c.368C>A (p.Pro123His) c.194C>A (p.Pro65His) c.404C>A (p.Pro135His) n.645C>A c.-218C>A (n.-218C>A) c.272C>A (p.Pro91His) | |
11 | g.71442309_71442321del | CA658820690 | DHCR7 | c.356_368del (p.His119ProfsTer4) c.182_194del (p.His61ProfsTer4) c.392_404del (p.His131ProfsTer4) n.633_645del c.-230_-218del (n.-230_-218del) c.260_272del (p.His87ProfsTer4) | |
11 | g.71442308G>A | CA381694975 | DHCR7 | c.367C>T (p.Pro123Ser) c.193C>T (p.Pro65Ser) c.403C>T (p.Pro135Ser) n.644C>T c.-219C>T (n.-219C>T) c.271C>T (p.Pro91Ser) | dbSNP |
11 | g.71442308G>C | CA381694977 | DHCR7 | c.367C>G (p.Pro123Ala) c.193C>G (p.Pro65Ala) c.403C>G (p.Pro135Ala) n.644C>G c.-219C>G (n.-219C>G) c.271C>G (p.Pro91Ala) | |
11 | g.71442308G>T | CA381694979 | DHCR7 | c.367C>A (p.Pro123Thr) c.193C>A (p.Pro65Thr) c.403C>A (p.Pro135Thr) n.644C>A c.-219C>A (n.-219C>A) c.271C>A (p.Pro91Thr) | |
11 | g.71442309T>A | CA475519647 | DHCR7 | c.366A>T (p.Leu122=) c.192A>T (p.Leu64=) c.402A>T (p.Leu134=) n.643A>T c.-220A>T (n.-220A>T) c.270A>T (p.Leu90=) | |
11 | g.71442309T>C | CA475519648 | DHCR7 | c.366A>G (p.Leu122=) c.192A>G (p.Leu64=) c.402A>G (p.Leu134=) n.643A>G c.-220A>G (n.-220A>G) c.270A>G (p.Leu90=) | |
11 | g.71442309T>G | CA475519649 | DHCR7 | c.366A>C (p.Leu122=) c.192A>C (p.Leu64=) c.402A>C (p.Leu134=) n.643A>C c.-220A>C (n.-220A>C) c.270A>C (p.Leu90=) | |
11 | g.71442310A>C | CA381694981 | DHCR7 | c.365T>G (p.Leu122Arg) c.191T>G (p.Leu64Arg) c.401T>G (p.Leu134Arg) n.642T>G c.-221T>G (n.-221T>G) c.269T>G (p.Leu90Arg) | |
11 | g.71442310A>G | CA381694984 | DHCR7 | c.365T>C (p.Leu122Pro) c.191T>C (p.Leu64Pro) c.401T>C (p.Leu134Pro) n.642T>C c.-221T>C (n.-221T>C) c.269T>C (p.Leu90Pro) | |
11 | g.71442310A>T | CA381694986 | DHCR7 | c.365T>A (p.Leu122Gln) c.191T>A (p.Leu64Gln) c.401T>A (p.Leu134Gln) n.642T>A c.-221T>A (n.-221T>A) c.269T>A (p.Leu90Gln) | |
11 | g.71442311G>A | CA475519650 | DHCR7 | c.364C>T (p.Leu122=) c.190C>T (p.Leu64=) c.400C>T (p.Leu134=) n.641C>T c.-222C>T (n.-222C>T) c.268C>T (p.Leu90=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442311G>C | CA381694994 | DHCR7 | c.364C>G (p.Leu122Val) c.190C>G (p.Leu64Val) c.400C>G (p.Leu134Val) n.641C>G c.-222C>G (n.-222C>G) c.268C>G (p.Leu90Val) | |
11 | g.71442311G= | CA1981490229 | DHCR7 | c.364C= (p.Leu122=) c.190C= (p.Leu64=) c.400C= (p.Leu134=) n.641C= c.-222C= (n.-222C=) c.268C= (p.Leu90=) | |
11 | g.71442311G>T | CA381694997 | DHCR7 | c.364C>A (p.Leu122Ile) c.190C>A (p.Leu64Ile) c.400C>A (p.Leu134Ile) n.641C>A c.-222C>A (n.-222C>A) c.268C>A (p.Leu90Ile) | |
11 | g.71442312A>C | CA381694998 | DHCR7 | c.363T>G (p.Phe121Leu) c.189T>G (p.Phe63Leu) c.399T>G (p.Phe133Leu) n.640T>G c.-223T>G (n.-223T>G) c.267T>G (p.Phe89Leu) | |
11 | g.71442312A>G | CA475519651 | DHCR7 | c.363T>C (p.Phe121=) c.189T>C (p.Phe63=) c.399T>C (p.Phe133=) n.640T>C c.-223T>C (n.-223T>C) c.267T>C (p.Phe89=) | |
11 | g.71442312A>T | CA381695000 | DHCR7 | c.363T>A (p.Phe121Leu) c.189T>A (p.Phe63Leu) c.399T>A (p.Phe133Leu) n.640T>A c.-223T>A (n.-223T>A) c.267T>A (p.Phe89Leu) | |
11 | g.71442313A>C | CA381695004 | DHCR7 | c.362T>G (p.Phe121Cys) c.188T>G (p.Phe63Cys) c.398T>G (p.Phe133Cys) n.639T>G c.-224T>G (n.-224T>G) c.266T>G (p.Phe89Cys) | |
11 | g.71442313A>G | CA381695006 | DHCR7 | c.362T>C (p.Phe121Ser) c.188T>C (p.Phe63Ser) c.398T>C (p.Phe133Ser) n.639T>C c.-224T>C (n.-224T>C) c.266T>C (p.Phe89Ser) | |
11 | g.71442313A>T | CA381695002 | DHCR7 | c.362T>A (p.Phe121Tyr) c.188T>A (p.Phe63Tyr) c.398T>A (p.Phe133Tyr) n.639T>A c.-224T>A (n.-224T>A) c.266T>A (p.Phe89Tyr) | |
11 | g.71442314A>C | CA381695010 | DHCR7 | c.361T>G (p.Phe121Val) c.187T>G (p.Phe63Val) c.397T>G (p.Phe133Val) n.638T>G c.-225T>G (n.-225T>G) c.265T>G (p.Phe89Val) | |
11 | g.71442314A>G | CA381695012 | DHCR7 | c.361T>C (p.Phe121Leu) c.187T>C (p.Phe63Leu) c.397T>C (p.Phe133Leu) n.638T>C c.-225T>C (n.-225T>C) c.265T>C (p.Phe89Leu) | |
11 | g.71442314A>T | CA381695014 | DHCR7 | c.361T>A (p.Phe121Ile) c.187T>A (p.Phe63Ile) c.397T>A (p.Phe133Ile) n.638T>A c.-225T>A (n.-225T>A) c.265T>A (p.Phe89Ile) | |
11 | g.71442315C>A | CA381695017 | DHCR7 | c.360G>T (p.Lys120Asn) c.186G>T (p.Lys62Asn) c.396G>T (p.Lys132Asn) n.637G>T c.-226G>T (n.-226G>T) c.264G>T (p.Lys88Asn) | |
11 | g.71442315C= | CA1981490230 | DHCR7 | c.360G= (p.Lys120=) c.186G= (p.Lys62=) c.396G= (p.Lys132=) n.637G= c.-226G= (n.-226G=) c.264G= (p.Lys88=) | |
11 | g.71442315C>G | CA381695020 | DHCR7 | c.360G>C (p.Lys120Asn) c.186G>C (p.Lys62Asn) c.396G>C (p.Lys132Asn) n.637G>C c.-226G>C (n.-226G>C) c.264G>C (p.Lys88Asn) | |
11 | g.71442315C>T | CA6162603 | DHCR7 | c.360G>A (p.Lys120=) c.186G>A (p.Lys62=) c.396G>A (p.Lys132=) n.637G>A c.-226G>A (n.-226G>A) c.264G>A (p.Lys88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442316T>A | CA381695025 | DHCR7 | c.359A>T (p.Lys120Met) c.185A>T (p.Lys62Met) c.395A>T (p.Lys132Met) n.636A>T c.-227A>T (n.-227A>T) c.263A>T (p.Lys88Met) | |
11 | g.71442316T>C | CA381695021 | DHCR7 | c.359A>G (p.Lys120Arg) c.185A>G (p.Lys62Arg) c.395A>G (p.Lys132Arg) n.636A>G c.-227A>G (n.-227A>G) c.263A>G (p.Lys88Arg) | |
11 | g.71442316T>G | CA381695022 | DHCR7 | c.359A>C (p.Lys120Thr) c.185A>C (p.Lys62Thr) c.395A>C (p.Lys132Thr) n.636A>C c.-227A>C (n.-227A>C) c.263A>C (p.Lys88Thr) | |
11 | g.71442317dup | CA600039624 | DHCR7 | c.359dup (p.Phe121ValfsTer?) c.185dup (p.Phe63ValfsTer?) c.395dup (p.Phe133ValfsTer?) n.636dup c.-227dup (n.-227dup) c.263dup (p.Phe89ValfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442317T>A | CA381695027 | DHCR7 | c.358A>T (p.Lys120Ter) c.184A>T (p.Lys62Ter) c.394A>T (p.Lys132Ter) n.635A>T c.-228A>T (n.-228A>T) c.262A>T (p.Lys88Ter) | |
11 | g.71442317T>C | CA6162604 | DHCR7 | c.358A>G (p.Lys120Glu) c.184A>G (p.Lys62Glu) c.394A>G (p.Lys132Glu) n.635A>G c.-228A>G (n.-228A>G) c.262A>G (p.Lys88Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.71442317T>G | CA381695030 | DHCR7 | c.358A>C (p.Lys120Gln) c.184A>C (p.Lys62Gln) c.394A>C (p.Lys132Gln) n.635A>C c.-228A>C (n.-228A>C) c.262A>C (p.Lys88Gln) | |
11 | g.71442317T= | CA1981490231 | DHCR7 | c.358A= (p.Lys120=) c.184A= (p.Lys62=) c.394A= (p.Lys132=) n.635A= c.-228A= (n.-228A=) c.262A= (p.Lys88=) | |
11 | g.71442318A= | CA1981490232 | DHCR7 | c.357T= (p.His119=) c.183T= (p.His61=) c.393T= (p.His131=) n.634T= c.-229T= (n.-229T=) c.261T= (p.His87=) | |
11 | g.71442318A>C | CA381695032 | DHCR7 | c.357T>G (p.His119Gln) c.183T>G (p.His61Gln) c.393T>G (p.His131Gln) n.634T>G c.-229T>G (n.-229T>G) c.261T>G (p.His87Gln) | |
11 | g.71442318A>G | CA475519654 | DHCR7 | c.357T>C (p.His119=) c.183T>C (p.His61=) c.393T>C (p.His131=) n.634T>C c.-229T>C (n.-229T>C) c.261T>C (p.His87=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.71442318A>T | CA381695033 | DHCR7 | c.357T>A (p.His119Gln) c.183T>A (p.His61Gln) c.393T>A (p.His131Gln) n.634T>A c.-229T>A (n.-229T>A) c.261T>A (p.His87Gln) | |
11 | g.71442319T>A | CA253936 | DHCR7 | c.356A>T (p.His119Leu) c.182A>T (p.His61Leu) c.392A>T (p.His131Leu) n.633A>T c.-230A>T (n.-230A>T) c.260A>T (p.His87Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442319T>C | CA6162605 | DHCR7 | c.356A>G (p.His119Arg) c.182A>G (p.His61Arg) c.392A>G (p.His131Arg) n.633A>G c.-230A>G (n.-230A>G) c.260A>G (p.His87Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442319T>G | CA381695037 | DHCR7 | c.356A>C (p.His119Pro) c.182A>C (p.His61Pro) c.392A>C (p.His131Pro) n.633A>C c.-230A>C (n.-230A>C) c.260A>C (p.His87Pro) | |
11 | g.71442319T= | CA1981490233 | DHCR7 | c.356A= (p.His119=) c.182A= (p.His61=) c.392A= (p.His131=) n.633A= c.-230A= (n.-230A=) c.260A= (p.His87=) | |
11 | g.71442319_71442320delinsTG | CA1981490234 | DHCR7 | c.355_356delinsCA (p.His119=) c.181_182delinsCA (p.His61=) c.391_392delinsCA (p.His131=) n.632_633delinsCA c.-231_-230delinsCA (n.-231_-230delinsCA) c.259_260delinsCA (p.His87=) | |
11 | g.71442320G>A | CA381695042 | DHCR7 | c.355C>T (p.His119Tyr) c.181C>T (p.His61Tyr) c.391C>T (p.His131Tyr) n.632C>T c.-231C>T (n.-231C>T) c.259C>T (p.His87Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442320G>C | CA381695044 | DHCR7 | c.355C>G (p.His119Asp) c.181C>G (p.His61Asp) c.391C>G (p.His131Asp) n.632C>G c.-231C>G (n.-231C>G) c.259C>G (p.His87Asp) | COSMIC COSMIC |
11 | g.71442320G= | CA1981490235 | DHCR7 | c.355C= (p.His119=) c.181C= (p.His61=) c.391C= (p.His131=) n.632C= c.-231C= (n.-231C=) c.259C= (p.His87=) | |
11 | g.71442320G>T | CA381695045 | DHCR7 | c.355C>A (p.His119Asn) c.181C>A (p.His61Asn) c.391C>A (p.His131Asn) n.632C>A c.-231C>A (n.-231C>A) c.259C>A (p.His87Asn) | |
11 | g.71442321del | CA6162606 | DHCR7 | c.355del (p.His119IlefsTer8) c.181del (p.His61IlefsTer8) c.391del (p.His131IlefsTer8) n.632del c.-231del (n.-231del) c.259del (p.His87IlefsTer8) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.71442321G>A | CA475519656 | DHCR7 | c.354C>T (p.Cys118=) c.180C>T (p.Cys60=) c.390C>T (p.Cys130=) n.631C>T c.-232C>T (n.-232C>T) c.258C>T (p.Cys86=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442321G>C | CA381695049 | DHCR7 | c.354C>G (p.Cys118Trp) c.180C>G (p.Cys60Trp) c.390C>G (p.Cys130Trp) n.631C>G c.-232C>G (n.-232C>G) c.258C>G (p.Cys86Trp) | |
11 | g.71442321G= | CA1981490236 | DHCR7 | c.354C= (p.Cys118=) c.180C= (p.Cys60=) c.390C= (p.Cys130=) n.631C= c.-232C= (n.-232C=) c.258C= (p.Cys86=) | |
11 | g.71442321G>T | CA381695051 | DHCR7 | c.354C>A (p.Cys118Ter) c.180C>A (p.Cys60Ter) c.390C>A (p.Cys130Ter) n.631C>A c.-232C>A (n.-232C>A) c.258C>A (p.Cys86Ter) | |
11 | g.71442322C>A | CA381695063 | DHCR7 | c.353G>T (p.Cys118Phe) c.179G>T (p.Cys60Phe) c.389G>T (p.Cys130Phe) n.630G>T c.-233G>T (n.-233G>T) c.257G>T (p.Cys86Phe) | |
11 | g.71442322C>G | CA381695054 | DHCR7 | c.353G>C (p.Cys118Ser) c.179G>C (p.Cys60Ser) c.389G>C (p.Cys130Ser) n.630G>C c.-233G>C (n.-233G>C) c.257G>C (p.Cys86Ser) | |
11 | g.71442322C>T | CA381695056 | DHCR7 | c.353G>A (p.Cys118Tyr) c.179G>A (p.Cys60Tyr) c.389G>A (p.Cys130Tyr) n.630G>A c.-233G>A (n.-233G>A) c.257G>A (p.Cys86Tyr) | ClinVar |
11 | g.71442323A>C | CA381695067 | DHCR7 | c.352T>G (p.Cys118Gly) c.178T>G (p.Cys60Gly) c.388T>G (p.Cys130Gly) n.629T>G c.-234T>G (n.-234T>G) c.256T>G (p.Cys86Gly) | |
11 | g.71442323A>G | CA381695068 | DHCR7 | c.352T>C (p.Cys118Arg) c.178T>C (p.Cys60Arg) c.388T>C (p.Cys130Arg) n.629T>C c.-234T>C (n.-234T>C) c.256T>C (p.Cys86Arg) | |
11 | g.71442323A>T | CA381695070 | DHCR7 | c.352T>A (p.Cys118Ser) c.178T>A (p.Cys60Ser) c.388T>A (p.Cys130Ser) n.629T>A c.-234T>A (n.-234T>A) c.256T>A (p.Cys86Ser) | |
11 | g.71442324G>A | CA475519657 | DHCR7 | c.351C>T (p.Phe117=) c.177C>T (p.Phe59=) c.387C>T (p.Phe129=) n.628C>T c.-235C>T (n.-235C>T) c.255C>T (p.Phe85=) | gnomAD v4 |
11 | g.71442324G>C | CA381695073 | DHCR7 | c.351C>G (p.Phe117Leu) c.177C>G (p.Phe59Leu) c.387C>G (p.Phe129Leu) n.628C>G c.-235C>G (n.-235C>G) c.255C>G (p.Phe85Leu) | |
11 | g.71442324G>T | CA381695075 | DHCR7 | c.351C>A (p.Phe117Leu) c.177C>A (p.Phe59Leu) c.387C>A (p.Phe129Leu) n.628C>A c.-235C>A (n.-235C>A) c.255C>A (p.Phe85Leu) | |
11 | g.71442325A>C | CA381695081 | DHCR7 | c.350T>G (p.Phe117Cys) c.176T>G (p.Phe59Cys) c.386T>G (p.Phe129Cys) n.627T>G c.-236T>G (n.-236T>G) c.254T>G (p.Phe85Cys) | |
11 | g.71442325A>G | CA381695083 | DHCR7 | c.350T>C (p.Phe117Ser) c.176T>C (p.Phe59Ser) c.386T>C (p.Phe129Ser) n.627T>C c.-236T>C (n.-236T>C) c.254T>C (p.Phe85Ser) | |
11 | g.71442325A>T | CA381695082 | DHCR7 | c.350T>A (p.Phe117Tyr) c.176T>A (p.Phe59Tyr) c.386T>A (p.Phe129Tyr) n.627T>A c.-236T>A (n.-236T>A) c.254T>A (p.Phe85Tyr) | |
11 | g.71442326A>C | CA381695086 | DHCR7 | c.349T>G (p.Phe117Val) c.175T>G (p.Phe59Val) c.385T>G (p.Phe129Val) n.626T>G c.-237T>G (n.-237T>G) c.253T>G (p.Phe85Val) | |
11 | g.71442326A>G | CA381695088 | DHCR7 | c.349T>C (p.Phe117Leu) c.175T>C (p.Phe59Leu) c.385T>C (p.Phe129Leu) n.626T>C c.-237T>C (n.-237T>C) c.253T>C (p.Phe85Leu) | |
11 | g.71442326A>T | CA381695090 | DHCR7 | c.349T>A (p.Phe117Ile) c.175T>A (p.Phe59Ile) c.385T>A (p.Phe129Ile) n.626T>A c.-237T>A (n.-237T>A) c.253T>A (p.Phe85Ile) | gnomAD v4 |
11 | g.71442327G>A | CA224280136 | DHCR7 | c.348C>T (p.Asp116=) c.174C>T (p.Asp58=) c.384C>T (p.Asp128=) n.625C>T c.-238C>T (n.-238C>T) c.252C>T (p.Asp84=) | ClinVar dbSNP gnomAD v4 |
11 | g.71442327G>C | CA381695095 | DHCR7 | c.348C>G (p.Asp116Glu) c.174C>G (p.Asp58Glu) c.384C>G (p.Asp128Glu) n.625C>G c.-238C>G (n.-238C>G) c.252C>G (p.Asp84Glu) | |
11 | g.71442327G= | CA1981490237 | DHCR7 | c.348C= (p.Asp116=) c.174C= (p.Asp58=) c.384C= (p.Asp128=) n.625C= c.-238C= (n.-238C=) c.252C= (p.Asp84=) | |
11 | g.71442327G>T | CA381695098 | DHCR7 | c.348C>A (p.Asp116Glu) c.174C>A (p.Asp58Glu) c.384C>A (p.Asp128Glu) n.625C>A c.-238C>A (n.-238C>A) c.252C>A (p.Asp84Glu) | gnomAD v4 |
11 | g.71442328T>A | CA381695100 | DHCR7 | c.347A>T (p.Asp116Val) c.173A>T (p.Asp58Val) c.383A>T (p.Asp128Val) n.624A>T c.-239A>T (n.-239A>T) c.251A>T (p.Asp84Val) | |
11 | g.71442328T>C | CA381695102 | DHCR7 | c.347A>G (p.Asp116Gly) c.173A>G (p.Asp58Gly) c.383A>G (p.Asp128Gly) n.624A>G c.-239A>G (n.-239A>G) c.251A>G (p.Asp84Gly) | ClinVar dbSNP |
11 | g.71442328T>G | CA381695104 | DHCR7 | c.347A>C (p.Asp116Ala) c.173A>C (p.Asp58Ala) c.383A>C (p.Asp128Ala) n.624A>C c.-239A>C (n.-239A>C) c.251A>C (p.Asp84Ala) | |
11 | g.71442328T= | CA1981490238 | DHCR7 | c.347A= (p.Asp116=) c.173A= (p.Asp58=) c.383A= (p.Asp128=) n.624A= c.-239A= (n.-239A=) c.251A= (p.Asp84=) | |
11 | g.71442329C>A | CA381695107 | DHCR7 | c.346G>T (p.Asp116Tyr) c.172G>T (p.Asp58Tyr) c.382G>T (p.Asp128Tyr) n.623G>T c.-240G>T (n.-240G>T) c.250G>T (p.Asp84Tyr) | |
11 | g.71442329C= | CA1981490240 | DHCR7 | c.346G= (p.Asp116=) c.172G= (p.Asp58=) c.382G= (p.Asp128=) n.623G= c.-240G= (n.-240G=) c.250G= (p.Asp84=) | |
11 | g.71442329C>G | CA381695109 | DHCR7 | c.346G>C (p.Asp116His) c.172G>C (p.Asp58His) c.382G>C (p.Asp128His) n.623G>C c.-240G>C (n.-240G>C) c.250G>C (p.Asp84His) | dbSNP |
11 | g.71442329C>T | CA381695111 | DHCR7 | c.346G>A (p.Asp116Asn) c.172G>A (p.Asp58Asn) c.382G>A (p.Asp128Asn) n.623G>A c.-240G>A (n.-240G>A) c.250G>A (p.Asp84Asn) | |
11 | g.71442329_71442330delinsCA | CA1981490239 | DHCR7 | c.345_346delinsTG (p.Pro115=) c.171_172delinsTG (p.Pro57=) c.381_382delinsTG (p.Pro127=) n.622_623delinsTG c.-241_-240delinsTG (n.-241_-240delinsTG) c.249_250delinsTG (p.Pro83=) | |
11 | g.71442330del | CA600039631 | DHCR7 | c.345del (p.Asp116ThrfsTer11) c.171del (p.Asp58ThrfsTer11) c.381del (p.Asp128ThrfsTer11) n.622del c.-241del (n.-241del) c.249del (p.Asp84ThrfsTer11) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442330A>C | CA475519658 | DHCR7 | c.345T>G (p.Pro115=) c.171T>G (p.Pro57=) c.381T>G (p.Pro127=) n.622T>G c.-241T>G (n.-241T>G) c.249T>G (p.Pro83=) | |
11 | g.71442330A>G | CA475519659 | DHCR7 | c.345T>C (p.Pro115=) c.171T>C (p.Pro57=) c.381T>C (p.Pro127=) n.622T>C c.-241T>C (n.-241T>C) c.249T>C (p.Pro83=) | |
11 | g.71442330A>T | CA475519660 | DHCR7 | c.345T>A (p.Pro115=) c.171T>A (p.Pro57=) c.381T>A (p.Pro127=) n.622T>A c.-241T>A (n.-241T>A) c.249T>A (p.Pro83=) | |
11 | g.71442331G>A | CA381695119 | DHCR7 | c.344C>T (p.Pro115Leu) c.170C>T (p.Pro57Leu) c.380C>T (p.Pro127Leu) n.621C>T c.-242C>T (n.-242C>T) c.248C>T (p.Pro83Leu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.71442331G>C | CA381695122 | DHCR7 | c.344C>G (p.Pro115Arg) c.170C>G (p.Pro57Arg) c.380C>G (p.Pro127Arg) n.621C>G c.-242C>G (n.-242C>G) c.248C>G (p.Pro83Arg) | |
11 | g.71442331G= | CA1981490241 | DHCR7 | c.344C= (p.Pro115=) c.170C= (p.Pro57=) c.380C= (p.Pro127=) n.621C= c.-242C= (n.-242C=) c.248C= (p.Pro83=) | |
11 | g.71442331G>T | CA381695116 | DHCR7 | c.344C>A (p.Pro115His) c.170C>A (p.Pro57His) c.380C>A (p.Pro127His) n.621C>A c.-242C>A (n.-242C>A) c.248C>A (p.Pro83His) | |
11 | g.71442332G>A | CA224280139 | DHCR7 | c.343C>T (p.Pro115Ser) c.169C>T (p.Pro57Ser) c.379C>T (p.Pro127Ser) n.620C>T c.-243C>T (n.-243C>T) c.247C>T (p.Pro83Ser) | dbSNP |
11 | g.71442332G>C | CA381695125 | DHCR7 | c.343C>G (p.Pro115Ala) c.169C>G (p.Pro57Ala) c.379C>G (p.Pro127Ala) n.620C>G c.-243C>G (n.-243C>G) c.247C>G (p.Pro83Ala) | |
11 | g.71442332G= | CA1981490242 | DHCR7 | c.343C= (p.Pro115=) c.169C= (p.Pro57=) c.379C= (p.Pro127=) n.620C= c.-243C= (n.-243C=) c.247C= (p.Pro83=) | |
11 | g.71442332G>T | CA381695127 | DHCR7 | c.343C>A (p.Pro115Thr) c.169C>A (p.Pro57Thr) c.379C>A (p.Pro127Thr) n.620C>A c.-243C>A (n.-243C>A) c.247C>A (p.Pro83Thr) | dbSNP gnomAD v2 gnomAD v4 |