Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.179129905C>TCA2578504359ADAMTS2c.2457+27G>A (n.2457+27G>A)
5g.179129907T>CCA2676856258ADAMTS2c.2457+25A>G (n.2457+25A>G)
gnomAD v4
5g.179129907T>GCA2676856259ADAMTS2c.2457+25A>C (n.2457+25A>C)
gnomAD v4
5g.179129910_179129925delCA3595552ADAMTS2c.2457+10_2457+25del (n.2457+10_2457+25del)
dbSNP ExAC gnomAD v2 gnomAD v4
5g.179129908G>ACA2710847868ADAMTS2c.2457+24C>T (n.2457+24C>T)
dbSNP
5g.179129909G>ACA2676856261ADAMTS2c.2457+23C>T (n.2457+23C>T)
gnomAD v4
5g.179129910G>ACA2578504360ADAMTS2c.2457+22C>T (n.2457+22C>T)
gnomAD v4
5g.179129910G>TCA2676856262ADAMTS2c.2457+22C>A (n.2457+22C>A)
dbSNP gnomAD v4
5g.179129912C>TCA564902279ADAMTS2c.2457+20G>A (n.2457+20G>A)
dbSNP gnomAD v2 gnomAD v4
5g.179129913C>TCA3595553ADAMTS2c.2457+19G>A (n.2457+19G>A)
dbSNP ExAC gnomAD v2
5g.179129915G>ACA2739272806ADAMTS2c.2457+17C>T (n.2457+17C>T)
5g.179129916C>ACA2606635235ADAMTS2c.2457+16G>T (n.2457+16G>T)
dbSNP gnomAD v3 gnomAD v4
5g.179129916C>GCA2578504361ADAMTS2c.2457+16G>C (n.2457+16G>C)
5g.179129916C>TCA564902282ADAMTS2c.2457+16G>A (n.2457+16G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
5g.179129918C>GCA2676856263ADAMTS2c.2457+14G>C (n.2457+14G>C)
gnomAD v4
5g.179129918C>TCA2578504362ADAMTS2c.2457+14G>A (n.2457+14G>A)
5g.179129919T>GCA2676856265ADAMTS2c.2457+13A>C (n.2457+13A>C)
dbSNP gnomAD v4
5g.179129920G>CCA3595554ADAMTS2c.2457+12C>G (n.2457+12C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179129924G>CCA2578504363ADAMTS2c.2457+8C>G (n.2457+8C>G)
gnomAD v4
5g.179129925G>ACA808243982ADAMTS2c.2457+7C>T (n.2457+7C>T)
dbSNP
5g.179129925G>TCA3595555ADAMTS2c.2457+7C>A (n.2457+7C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
5g.179129926A>GCA2578504364ADAMTS2c.2457+6T>C (n.2457+6T>C)
gnomAD v4
5g.179129929C>ACA2676856271ADAMTS2c.2457+3G>T (n.2457+3G>T)
gnomAD v4
5g.179129930A>CCA362423828ADAMTS2c.2457+2T>G (n.2457+2T>G)
5g.179129930A>GCA362423829ADAMTS2c.2457+2T>C (n.2457+2T>C)
5g.179129930A>TCA362423830ADAMTS2c.2457+2T>A (n.2457+2T>A)
5g.179129931C>ACA362423831ADAMTS2c.2457+1G>T (n.2457+1G>T)
5g.179129931C>GCA362423832ADAMTS2c.2457+1G>C (n.2457+1G>C)
5g.179129931C>TCA362423833ADAMTS2c.2457+1G>A (n.2457+1G>A)
ClinVar dbSNP COSMIC
5g.179129932C>ACA448034167ADAMTS2c.2457G>T (p.Leu819=)
dbSNP
5g.179129932C>GCA448034169ADAMTS2c.2457G>C (p.Leu819=)
5g.179129932C>TCA448034171ADAMTS2c.2457G>A (p.Leu819=)
gnomAD v4
5g.179129933A>CCA362423834ADAMTS2c.2456T>G (p.Leu819Arg)
5g.179129933A>GCA362423835ADAMTS2c.2456T>C (p.Leu819Pro)
5g.179129933A>TCA362423836ADAMTS2c.2456T>A (p.Leu819Gln)
5g.179129934G>ACA448034175ADAMTS2c.2455C>T (p.Leu819=)
5g.179129934G>CCA362423837ADAMTS2c.2455C>G (p.Leu819Val)
5g.179129934G>TCA362423838ADAMTS2c.2455C>A (p.Leu819Met)
5g.179129935A>CCA448034180ADAMTS2c.2454T>G (p.Val818=)
COSMIC
5g.179129935A>GCA448034181ADAMTS2c.2454T>C (p.Val818=)
ClinVar dbSNP
5g.179129935A>TCA448034183ADAMTS2c.2454T>A (p.Val818=)
gnomAD v4
5g.179129936A>CCA362423839ADAMTS2c.2453T>G (p.Val818Gly)
5g.179129936A>GCA362423841ADAMTS2c.2453T>C (p.Val818Ala)
5g.179129936A>TCA362423840ADAMTS2c.2453T>A (p.Val818Asp)
5g.179129937C>ACA362423842ADAMTS2c.2452G>T (p.Val818Phe)
dbSNP gnomAD v2
5g.179129937C>GCA362423843ADAMTS2c.2452G>C (p.Val818Leu)
5g.179129937C>TCA3595556ADAMTS2c.2452G>A (p.Val818Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179129938G>ACA3595557ADAMTS2c.2451C>T (p.Thr817=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.179129938G>CCA448034188ADAMTS2c.2451C>G (p.Thr817=)
5g.179129938G>TCA448034190ADAMTS2c.2451C>A (p.Thr817=)
dbSNP gnomAD v4

Number of alleles fetched