5 | g.179129910_179129925del | CA3595552 | ADAMTS2 | c.2457+10_2457+25del (n.2457+10_2457+25del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179129910G>A | CA2578504360 | ADAMTS2 | c.2457+22C>T (n.2457+22C>T)
| gnomAD v4 |
5 | g.179129910G>T | CA2676856262 | ADAMTS2 | c.2457+22C>A (n.2457+22C>A)
| dbSNP gnomAD v4 |
5 | g.179129912C>T | CA564902279 | ADAMTS2 | c.2457+20G>A (n.2457+20G>A)
| dbSNP gnomAD v2 gnomAD v4 |
5 | g.179129913C>T | CA3595553 | ADAMTS2 | c.2457+19G>A (n.2457+19G>A)
| dbSNP ExAC gnomAD v2 |
5 | g.179129915G>A | CA2739272806 | ADAMTS2 | c.2457+17C>T (n.2457+17C>T)
| ClinVar |
5 | g.179129916C>A | CA2606635235 | ADAMTS2 | c.2457+16G>T (n.2457+16G>T)
| dbSNP gnomAD v3 gnomAD v4 |
5 | g.179129916C>G | CA2578504361 | ADAMTS2 | c.2457+16G>C (n.2457+16G>C)
| ClinVar |
5 | g.179129916C>T | CA564902282 | ADAMTS2 | c.2457+16G>A (n.2457+16G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179129918C>G | CA2676856263 | ADAMTS2 | c.2457+14G>C (n.2457+14G>C)
| gnomAD v4 |
5 | g.179129918C>T | CA2578504362 | ADAMTS2 | c.2457+14G>A (n.2457+14G>A)
| |
5 | g.179129919T>G | CA2676856265 | ADAMTS2 | c.2457+13A>C (n.2457+13A>C)
| ClinVar dbSNP gnomAD v4 |
5 | g.179129920G>C | CA3595554 | ADAMTS2 | c.2457+12C>G (n.2457+12C>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179129922T>C | CA2769633674 | ADAMTS2 | c.2457+10A>G (n.2457+10A>G)
| |
5 | g.179129924G>C | CA2578504363 | ADAMTS2 | c.2457+8C>G (n.2457+8C>G)
| gnomAD v4 |
5 | g.179129925G>A | CA808243982 | ADAMTS2 | c.2457+7C>T (n.2457+7C>T)
| ClinVar dbSNP |
5 | g.179129925G>T | CA3595555 | ADAMTS2 | c.2457+7C>A (n.2457+7C>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.179129926A>G | CA2578504364 | ADAMTS2 | c.2457+6T>C (n.2457+6T>C)
| gnomAD v4 |
5 | g.179129929C>A | CA2676856271 | ADAMTS2 | c.2457+3G>T (n.2457+3G>T)
| gnomAD v4 |
5 | g.179129930A>C | CA362423828 | ADAMTS2 | c.2457+2T>G (n.2457+2T>G)
| |
5 | g.179129930A>G | CA362423829 | ADAMTS2 | c.2457+2T>C (n.2457+2T>C)
| |
5 | g.179129930A>T | CA362423830 | ADAMTS2 | c.2457+2T>A (n.2457+2T>A)
| |
5 | g.179129931C>A | CA362423831 | ADAMTS2 | c.2457+1G>T (n.2457+1G>T)
| |
5 | g.179129931C>G | CA362423832 | ADAMTS2 | c.2457+1G>C (n.2457+1G>C)
| |
5 | g.179129931C>T | CA362423833 | ADAMTS2 | c.2457+1G>A (n.2457+1G>A)
| ClinVar dbSNP COSMIC |
5 | g.179129932C>A | CA448034167 | ADAMTS2 | c.2457G>T (p.Leu819=)
| dbSNP |
5 | g.179129932C>G | CA448034169 | ADAMTS2 | c.2457G>C (p.Leu819=)
| |
5 | g.179129932C>T | CA448034171 | ADAMTS2 | c.2457G>A (p.Leu819=)
| gnomAD v4 |
5 | g.179129933A>C | CA362423834 | ADAMTS2 | c.2456T>G (p.Leu819Arg)
| |
5 | g.179129933A>G | CA362423835 | ADAMTS2 | c.2456T>C (p.Leu819Pro)
| |
5 | g.179129933A>T | CA362423836 | ADAMTS2 | c.2456T>A (p.Leu819Gln)
| |
5 | g.179129934G>A | CA448034175 | ADAMTS2 | c.2455C>T (p.Leu819=)
| ClinVar |
5 | g.179129934G>C | CA362423837 | ADAMTS2 | c.2455C>G (p.Leu819Val)
| |
5 | g.179129934G>T | CA362423838 | ADAMTS2 | c.2455C>A (p.Leu819Met)
| |
5 | g.179129935A>C | CA448034180 | ADAMTS2 | c.2454T>G (p.Val818=)
| COSMIC |
5 | g.179129935A>G | CA448034181 | ADAMTS2 | c.2454T>C (p.Val818=)
| ClinVar dbSNP |
5 | g.179129935A>T | CA448034183 | ADAMTS2 | c.2454T>A (p.Val818=)
| ClinVar gnomAD v4 |
5 | g.179129936A>C | CA362423839 | ADAMTS2 | c.2453T>G (p.Val818Gly)
| |
5 | g.179129936A>G | CA362423841 | ADAMTS2 | c.2453T>C (p.Val818Ala)
| |
5 | g.179129936A>T | CA362423840 | ADAMTS2 | c.2453T>A (p.Val818Asp)
| |
5 | g.179129937C>A | CA362423842 | ADAMTS2 | c.2452G>T (p.Val818Phe)
| dbSNP gnomAD v2 |
5 | g.179129937C>G | CA362423843 | ADAMTS2 | c.2452G>C (p.Val818Leu)
| |
5 | g.179129937C>T | CA3595556 | ADAMTS2 | c.2452G>A (p.Val818Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179129938G>A | CA3595557 | ADAMTS2 | c.2451C>T (p.Thr817=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.179129938G>C | CA448034188 | ADAMTS2 | c.2451C>G (p.Thr817=)
| |
5 | g.179129938G>T | CA448034190 | ADAMTS2 | c.2451C>A (p.Thr817=)
| dbSNP gnomAD v4 |
5 | g.179129939G>A | CA362423844 | ADAMTS2 | c.2450C>T (p.Thr817Ile)
| COSMIC |
5 | g.179129939G>C | CA362423845 | ADAMTS2 | c.2450C>G (p.Thr817Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.179129939G>T | CA362423846 | ADAMTS2 | c.2450C>A (p.Thr817Asn)
| |
5 | g.179129940T>A | CA362423847 | ADAMTS2 | c.2449A>T (p.Thr817Ser)
| |