Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.70758154A>G | CA2609526191 | ADAMTS14 | c.3068-21A>G (n.3068-21A>G) c.3077-21A>G (n.3077-21A>G) c.2567-21A>G (n.2567-21A>G) c.2141-21A>G (n.2141-21A>G) c.1637-21A>G (n.1637-21A>G) | gnomAD v4 |
10 | g.70758158C= | CA1918399697 | ADAMTS14 | c.3068-17C= (n.3068-17C=) c.3077-17C= (n.3077-17C=) c.2567-17C= (n.2567-17C=) c.2141-17C= (n.2141-17C=) c.1637-17C= (n.1637-17C=) | |
10 | g.70758158C>T | CA5540330 | ADAMTS14 | c.3068-17C>T (n.3068-17C>T) c.3077-17C>T (n.3077-17C>T) c.2567-17C>T (n.2567-17C>T) c.2141-17C>T (n.2141-17C>T) c.1637-17C>T (n.1637-17C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758162T>C | CA2609526194 | ADAMTS14 | c.3068-13T>C (n.3068-13T>C) c.3077-13T>C (n.3077-13T>C) c.2567-13T>C (n.2567-13T>C) c.2141-13T>C (n.2141-13T>C) c.1637-13T>C (n.1637-13T>C) | gnomAD v4 |
10 | g.70758163T>C | CA2609526196 | ADAMTS14 | c.3068-12T>C (n.3068-12T>C) c.3077-12T>C (n.3077-12T>C) c.2567-12T>C (n.2567-12T>C) c.2141-12T>C (n.2141-12T>C) c.1637-12T>C (n.1637-12T>C) | gnomAD v4 |
10 | g.70758168C>A | CA2609526197 | ADAMTS14 | c.3068-7C>A (n.3068-7C>A) c.3077-7C>A (n.3077-7C>A) c.2567-7C>A (n.2567-7C>A) c.2141-7C>A (n.2141-7C>A) c.1637-7C>A (n.1637-7C>A) | gnomAD v4 |
10 | g.70758170C>T | CA2609526198 | ADAMTS14 | c.3068-5C>T (n.3068-5C>T) c.3077-5C>T (n.3077-5C>T) c.2567-5C>T (n.2567-5C>T) c.2141-5C>T (n.2141-5C>T) c.1637-5C>T (n.1637-5C>T) | gnomAD v4 |
10 | g.70758172C= | CA1918399698 | ADAMTS14 | c.3068-3C= (n.3068-3C=) c.3077-3C= (n.3077-3C=) c.2567-3C= (n.2567-3C=) c.2141-3C= (n.2141-3C=) c.1637-3C= (n.1637-3C=) | |
10 | g.70758172C>T | CA1918399699 | ADAMTS14 | c.3068-3C>T (n.3068-3C>T) c.3077-3C>T (n.3077-3C>T) c.2567-3C>T (n.2567-3C>T) c.2141-3C>T (n.2141-3C>T) c.1637-3C>T (n.1637-3C>T) | dbSNP |
10 | g.70758173A= | CA1918399700 | ADAMTS14 | c.3068-2A= (n.3068-2A=) c.3077-2A= (n.3077-2A=) c.2567-2A= (n.2567-2A=) c.2141-2A= (n.2141-2A=) c.1637-2A= (n.1637-2A=) | |
10 | g.70758173A>C | CA377109047 | ADAMTS14 | c.3068-2A>C (n.3068-2A>C) c.3077-2A>C (n.3077-2A>C) c.2567-2A>C (n.2567-2A>C) c.2141-2A>C (n.2141-2A>C) c.1637-2A>C (n.1637-2A>C) | |
10 | g.70758173A>G | CA377109046 | ADAMTS14 | c.3068-2A>G (n.3068-2A>G) c.3077-2A>G (n.3077-2A>G) c.2567-2A>G (n.2567-2A>G) c.2141-2A>G (n.2141-2A>G) c.1637-2A>G (n.1637-2A>G) | dbSNP gnomAD v4 |
10 | g.70758173A>T | CA377109045 | ADAMTS14 | c.3068-2A>T (n.3068-2A>T) c.3077-2A>T (n.3077-2A>T) c.2567-2A>T (n.2567-2A>T) c.2141-2A>T (n.2141-2A>T) c.1637-2A>T (n.1637-2A>T) | |
10 | g.70758174G>A | CA377109048 | ADAMTS14 | c.3068-1G>A (n.3068-1G>A) c.3077-1G>A (n.3077-1G>A) c.2567-1G>A (n.2567-1G>A) c.2141-1G>A (n.2141-1G>A) c.1637-1G>A (n.1637-1G>A) | |
10 | g.70758174G>C | CA377109050 | ADAMTS14 | c.3068-1G>C (n.3068-1G>C) c.3077-1G>C (n.3077-1G>C) c.2567-1G>C (n.2567-1G>C) c.2141-1G>C (n.2141-1G>C) c.1637-1G>C (n.1637-1G>C) | |
10 | g.70758174G>T | CA377109049 | ADAMTS14 | c.3068-1G>T (n.3068-1G>T) c.3077-1G>T (n.3077-1G>T) c.2567-1G>T (n.2567-1G>T) c.2141-1G>T (n.2141-1G>T) c.1637-1G>T (n.1637-1G>T) | |
10 | g.70758175G>A | CA377109051 | ADAMTS14 | c.3068G>A (p.Gly1023Glu) c.3077G>A (p.Gly1026Glu) c.2567G>A (p.Gly856Glu) c.2141G>A (p.Gly714Glu) c.1637G>A (p.Gly546Glu) | |
10 | g.70758175G>C | CA377109052 | ADAMTS14 | c.3068G>C (p.Gly1023Ala) c.3077G>C (p.Gly1026Ala) c.2567G>C (p.Gly856Ala) c.2141G>C (p.Gly714Ala) c.1637G>C (p.Gly546Ala) | |
10 | g.70758175G>T | CA377109053 | ADAMTS14 | c.3068G>T (p.Gly1023Val) c.3077G>T (p.Gly1026Val) c.2567G>T (p.Gly856Val) c.2141G>T (p.Gly714Val) c.1637G>T (p.Gly546Val) | |
10 | g.70758176A= | CA1918399701 | ADAMTS14 | c.3069A= (p.Gly1023=) c.3078A= (p.Gly1026=) c.2568A= (p.Gly856=) c.2142A= (p.Gly714=) c.1638A= (p.Gly546=) | |
10 | g.70758176A>C | CA470056297 | ADAMTS14 | c.3069A>C (p.Gly1023=) c.3078A>C (p.Gly1026=) c.2568A>C (p.Gly856=) c.2142A>C (p.Gly714=) c.1638A>C (p.Gly546=) | |
10 | g.70758176A>G | CA470056298 | ADAMTS14 | c.3069A>G (p.Gly1023=) c.3078A>G (p.Gly1026=) c.2568A>G (p.Gly856=) c.2142A>G (p.Gly714=) c.1638A>G (p.Gly546=) | |
10 | g.70758176A>T | CA209416085 | ADAMTS14 | c.3069A>T (p.Gly1023=) c.3078A>T (p.Gly1026=) c.2568A>T (p.Gly856=) c.2142A>T (p.Gly714=) c.1638A>T (p.Gly546=) | dbSNP |
10 | g.70758177A= | CA1918399702 | ADAMTS14 | c.3070A= (p.Asn1024=) c.3079A= (p.Asn1027=) c.2569A= (p.Asn857=) c.2143A= (p.Asn715=) c.1639A= (p.Asn547=) | |
10 | g.70758177A>C | CA377109054 | ADAMTS14 | c.3070A>C (p.Asn1024His) c.3079A>C (p.Asn1027His) c.2569A>C (p.Asn857His) c.2143A>C (p.Asn715His) c.1639A>C (p.Asn547His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758177A>G | CA377109055 | ADAMTS14 | c.3070A>G (p.Asn1024Asp) c.3079A>G (p.Asn1027Asp) c.2569A>G (p.Asn857Asp) c.2143A>G (p.Asn715Asp) c.1639A>G (p.Asn547Asp) | |
10 | g.70758177A>T | CA377109056 | ADAMTS14 | c.3070A>T (p.Asn1024Tyr) c.3079A>T (p.Asn1027Tyr) c.2569A>T (p.Asn857Tyr) c.2143A>T (p.Asn715Tyr) c.1639A>T (p.Asn547Tyr) | |
10 | g.70758178A>C | CA377109057 | ADAMTS14 | c.3071A>C (p.Asn1024Thr) c.3080A>C (p.Asn1027Thr) c.2570A>C (p.Asn857Thr) c.2144A>C (p.Asn715Thr) c.1640A>C (p.Asn547Thr) | |
10 | g.70758178A>G | CA377109058 | ADAMTS14 | c.3071A>G (p.Asn1024Ser) c.3080A>G (p.Asn1027Ser) c.2570A>G (p.Asn857Ser) c.2144A>G (p.Asn715Ser) c.1640A>G (p.Asn547Ser) | |
10 | g.70758178A>T | CA377109059 | ADAMTS14 | c.3071A>T (p.Asn1024Ile) c.3080A>T (p.Asn1027Ile) c.2570A>T (p.Asn857Ile) c.2144A>T (p.Asn715Ile) c.1640A>T (p.Asn547Ile) | |
10 | g.70758179T>A | CA377109060 | ADAMTS14 | c.3072T>A (p.Asn1024Lys) c.3081T>A (p.Asn1027Lys) c.2571T>A (p.Asn857Lys) c.2145T>A (p.Asn715Lys) c.1641T>A (p.Asn547Lys) | |
10 | g.70758179T>C | CA470056299 | ADAMTS14 | c.3072T>C (p.Asn1024=) c.3081T>C (p.Asn1027=) c.2571T>C (p.Asn857=) c.2145T>C (p.Asn715=) c.1641T>C (p.Asn547=) | |
10 | g.70758179T>G | CA377109061 | ADAMTS14 | c.3072T>G (p.Asn1024Lys) c.3081T>G (p.Asn1027Lys) c.2571T>G (p.Asn857Lys) c.2145T>G (p.Asn715Lys) c.1641T>G (p.Asn547Lys) | |
10 | g.70758180C>A | CA377109064 | ADAMTS14 | c.3073C>A (p.His1025Asn) c.3082C>A (p.His1028Asn) c.2572C>A (p.His858Asn) c.2146C>A (p.His716Asn) c.1642C>A (p.His548Asn) | |
10 | g.70758180C>G | CA377109062 | ADAMTS14 | c.3073C>G (p.His1025Asp) c.3082C>G (p.His1028Asp) c.2572C>G (p.His858Asp) c.2146C>G (p.His716Asp) c.1642C>G (p.His548Asp) | |
10 | g.70758180C>T | CA377109063 | ADAMTS14 | c.3073C>T (p.His1025Tyr) c.3082C>T (p.His1028Tyr) c.2572C>T (p.His858Tyr) c.2146C>T (p.His716Tyr) c.1642C>T (p.His548Tyr) | |
10 | g.70758181A= | CA1918399703 | ADAMTS14 | c.3074A= (p.His1025=) c.3083A= (p.His1028=) c.2573A= (p.His858=) c.2147A= (p.His716=) c.1643A= (p.His548=) | |
10 | g.70758181A>C | CA377109065 | ADAMTS14 | c.3074A>C (p.His1025Pro) c.3083A>C (p.His1028Pro) c.2573A>C (p.His858Pro) c.2147A>C (p.His716Pro) c.1643A>C (p.His548Pro) | |
10 | g.70758181A>G | CA377109066 | ADAMTS14 | c.3074A>G (p.His1025Arg) c.3083A>G (p.His1028Arg) c.2573A>G (p.His858Arg) c.2147A>G (p.His716Arg) c.1643A>G (p.His548Arg) | dbSNP |
10 | g.70758181A>T | CA377109067 | ADAMTS14 | c.3074A>T (p.His1025Leu) c.3083A>T (p.His1028Leu) c.2573A>T (p.His858Leu) c.2147A>T (p.His716Leu) c.1643A>T (p.His548Leu) | gnomAD v4 |
10 | g.70758182C>A | CA377109068 | ADAMTS14 | c.3075C>A (p.His1025Gln) c.3084C>A (p.His1028Gln) c.2574C>A (p.His858Gln) c.2148C>A (p.His716Gln) c.1644C>A (p.His548Gln) | |
10 | g.70758182C>G | CA377109069 | ADAMTS14 | c.3075C>G (p.His1025Gln) c.3084C>G (p.His1028Gln) c.2574C>G (p.His858Gln) c.2148C>G (p.His716Gln) c.1644C>G (p.His548Gln) | |
10 | g.70758182C>T | CA470056300 | ADAMTS14 | c.3075C>T (p.His1025=) c.3084C>T (p.His1028=) c.2574C>T (p.His858=) c.2148C>T (p.His716=) c.1644C>T (p.His548=) | gnomAD v4 |
10 | g.70758183C>A | CA377109070 | ADAMTS14 | c.3076C>A (p.Gln1026Lys) c.3085C>A (p.Gln1029Lys) c.2575C>A (p.Gln859Lys) c.2149C>A (p.Gln717Lys) c.1645C>A (p.Gln549Lys) | COSMIC |
10 | g.70758183C>G | CA377109071 | ADAMTS14 | c.3076C>G (p.Gln1026Glu) c.3085C>G (p.Gln1029Glu) c.2575C>G (p.Gln859Glu) c.2149C>G (p.Gln717Glu) c.1645C>G (p.Gln549Glu) | |
10 | g.70758183C>T | CA377109072 | ADAMTS14 | c.3076C>T (p.Gln1026Ter) c.3085C>T (p.Gln1029Ter) c.2575C>T (p.Gln859Ter) c.2149C>T (p.Gln717Ter) c.1645C>T (p.Gln549Ter) | |
10 | g.70758184A>C | CA377109073 | ADAMTS14 | c.3077A>C (p.Gln1026Pro) c.3086A>C (p.Gln1029Pro) c.2576A>C (p.Gln859Pro) c.2150A>C (p.Gln717Pro) c.1646A>C (p.Gln549Pro) | |
10 | g.70758184A>G | CA377109074 | ADAMTS14 | c.3077A>G (p.Gln1026Arg) c.3086A>G (p.Gln1029Arg) c.2576A>G (p.Gln859Arg) c.2150A>G (p.Gln717Arg) c.1646A>G (p.Gln549Arg) | |
10 | g.70758184A>T | CA377109075 | ADAMTS14 | c.3077A>T (p.Gln1026Leu) c.3086A>T (p.Gln1029Leu) c.2576A>T (p.Gln859Leu) c.2150A>T (p.Gln717Leu) c.1646A>T (p.Gln549Leu) | |
10 | g.70758185G>A | CA470056301 | ADAMTS14 | c.3078G>A (p.Gln1026=) c.3087G>A (p.Gln1029=) c.2577G>A (p.Gln859=) c.2151G>A (p.Gln717=) c.1647G>A (p.Gln549=) | |
10 | g.70758185G>C | CA377109077 | ADAMTS14 | c.3078G>C (p.Gln1026His) c.3087G>C (p.Gln1029His) c.2577G>C (p.Gln859His) c.2151G>C (p.Gln717His) c.1647G>C (p.Gln549His) | |
10 | g.70758185G>T | CA377109076 | ADAMTS14 | c.3078G>T (p.Gln1026His) c.3087G>T (p.Gln1029His) c.2577G>T (p.Gln859His) c.2151G>T (p.Gln717His) c.1647G>T (p.Gln549His) | |
10 | g.70758186A>C | CA377109078 | ADAMTS14 | c.3079A>C (p.Asn1027His) c.3088A>C (p.Asn1030His) c.2578A>C (p.Asn860His) c.2152A>C (p.Asn718His) c.1648A>C (p.Asn550His) | |
10 | g.70758186A>G | CA377109079 | ADAMTS14 | c.3079A>G (p.Asn1027Asp) c.3088A>G (p.Asn1030Asp) c.2578A>G (p.Asn860Asp) c.2152A>G (p.Asn718Asp) c.1648A>G (p.Asn550Asp) | |
10 | g.70758186A>T | CA377109080 | ADAMTS14 | c.3079A>T (p.Asn1027Tyr) c.3088A>T (p.Asn1030Tyr) c.2578A>T (p.Asn860Tyr) c.2152A>T (p.Asn718Tyr) c.1648A>T (p.Asn550Tyr) | |
10 | g.70758187A>C | CA377109081 | ADAMTS14 | c.3080A>C (p.Asn1027Thr) c.3089A>C (p.Asn1030Thr) c.2579A>C (p.Asn860Thr) c.2153A>C (p.Asn718Thr) c.1649A>C (p.Asn550Thr) | |
10 | g.70758187A>G | CA377109082 | ADAMTS14 | c.3080A>G (p.Asn1027Ser) c.3089A>G (p.Asn1030Ser) c.2579A>G (p.Asn860Ser) c.2153A>G (p.Asn718Ser) c.1649A>G (p.Asn550Ser) | gnomAD v4 |
10 | g.70758187A>T | CA377109083 | ADAMTS14 | c.3080A>T (p.Asn1027Ile) c.3089A>T (p.Asn1030Ile) c.2579A>T (p.Asn860Ile) c.2153A>T (p.Asn718Ile) c.1649A>T (p.Asn550Ile) | gnomAD v4 |
10 | g.70758188C>A | CA377109085 | ADAMTS14 | c.3081C>A (p.Asn1027Lys) c.3090C>A (p.Asn1030Lys) c.2580C>A (p.Asn860Lys) c.2154C>A (p.Asn718Lys) c.1650C>A (p.Asn550Lys) | |
10 | g.70758188C= | CA1918399704 | ADAMTS14 | c.3081C= (p.Asn1027=) c.3090C= (p.Asn1030=) c.2580C= (p.Asn860=) c.2154C= (p.Asn718=) c.1650C= (p.Asn550=) | |
10 | g.70758188C>G | CA377109084 | ADAMTS14 | c.3081C>G (p.Asn1027Lys) c.3090C>G (p.Asn1030Lys) c.2580C>G (p.Asn860Lys) c.2154C>G (p.Asn718Lys) c.1650C>G (p.Asn550Lys) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758188C>T | CA470056302 | ADAMTS14 | c.3081C>T (p.Asn1027=) c.3090C>T (p.Asn1030=) c.2580C>T (p.Asn860=) c.2154C>T (p.Asn718=) c.1650C>T (p.Asn550=) | gnomAD v4 |
10 | g.70758189T>A | CA377109086 | ADAMTS14 | c.3082T>A (p.Ser1028Thr) c.3091T>A (p.Ser1031Thr) c.2581T>A (p.Ser861Thr) c.2155T>A (p.Ser719Thr) c.1651T>A (p.Ser551Thr) | |
10 | g.70758189T>C | CA377109087 | ADAMTS14 | c.3082T>C (p.Ser1028Pro) c.3091T>C (p.Ser1031Pro) c.2581T>C (p.Ser861Pro) c.2155T>C (p.Ser719Pro) c.1651T>C (p.Ser551Pro) | |
10 | g.70758189T>G | CA377109088 | ADAMTS14 | c.3082T>G (p.Ser1028Ala) c.3091T>G (p.Ser1031Ala) c.2581T>G (p.Ser861Ala) c.2155T>G (p.Ser719Ala) c.1651T>G (p.Ser551Ala) | |
10 | g.70758190C>A | CA377109089 | ADAMTS14 | c.3083C>A (p.Ser1028Tyr) c.3092C>A (p.Ser1031Tyr) c.2582C>A (p.Ser861Tyr) c.2156C>A (p.Ser719Tyr) c.1652C>A (p.Ser551Tyr) | |
10 | g.70758190C= | CA1918399705 | ADAMTS14 | c.3083C= (p.Ser1028=) c.3092C= (p.Ser1031=) c.2582C= (p.Ser861=) c.2156C= (p.Ser719=) c.1652C= (p.Ser551=) | |
10 | g.70758190C>G | CA377109090 | ADAMTS14 | c.3083C>G (p.Ser1028Cys) c.3092C>G (p.Ser1031Cys) c.2582C>G (p.Ser861Cys) c.2156C>G (p.Ser719Cys) c.1652C>G (p.Ser551Cys) | |
10 | g.70758190C>T | CA377109091 | ADAMTS14 | c.3083C>T (p.Ser1028Phe) c.3092C>T (p.Ser1031Phe) c.2582C>T (p.Ser861Phe) c.2156C>T (p.Ser719Phe) c.1652C>T (p.Ser551Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.70758191C>A | CA470056303 | ADAMTS14 | c.3084C>A (p.Ser1028=) c.3093C>A (p.Ser1031=) c.2583C>A (p.Ser861=) c.2157C>A (p.Ser719=) c.1653C>A (p.Ser551=) | |
10 | g.70758191C= | CA1918399706 | ADAMTS14 | c.3084C= (p.Ser1028=) c.3093C= (p.Ser1031=) c.2583C= (p.Ser861=) c.2157C= (p.Ser719=) c.1653C= (p.Ser551=) | |
10 | g.70758191C>G | CA470056304 | ADAMTS14 | c.3084C>G (p.Ser1028=) c.3093C>G (p.Ser1031=) c.2583C>G (p.Ser861=) c.2157C>G (p.Ser719=) c.1653C>G (p.Ser551=) | |
10 | g.70758191C>T | CA470056305 | ADAMTS14 | c.3084C>T (p.Ser1028=) c.3093C>T (p.Ser1031=) c.2583C>T (p.Ser861=) c.2157C>T (p.Ser719=) c.1653C>T (p.Ser551=) | dbSNP |
10 | g.70758192A>C | CA377109092 | ADAMTS14 | c.3085A>C (p.Thr1029Pro) c.3094A>C (p.Thr1032Pro) c.2584A>C (p.Thr862Pro) c.2158A>C (p.Thr720Pro) c.1654A>C (p.Thr552Pro) | |
10 | g.70758192A>G | CA377109094 | ADAMTS14 | c.3085A>G (p.Thr1029Ala) c.3094A>G (p.Thr1032Ala) c.2584A>G (p.Thr862Ala) c.2158A>G (p.Thr720Ala) c.1654A>G (p.Thr552Ala) | |
10 | g.70758192A>T | CA377109093 | ADAMTS14 | c.3085A>T (p.Thr1029Ser) c.3094A>T (p.Thr1032Ser) c.2584A>T (p.Thr862Ser) c.2158A>T (p.Thr720Ser) c.1654A>T (p.Thr552Ser) | |
10 | g.70758193C>A | CA377109095 | ADAMTS14 | c.3086C>A (p.Thr1029Lys) c.3095C>A (p.Thr1032Lys) c.2585C>A (p.Thr862Lys) c.2159C>A (p.Thr720Lys) c.1655C>A (p.Thr552Lys) | |
10 | g.70758193C= | CA1918399707 | ADAMTS14 | c.3086C= (p.Thr1029=) c.3095C= (p.Thr1032=) c.2585C= (p.Thr862=) c.2159C= (p.Thr720=) c.1655C= (p.Thr552=) | |
10 | g.70758193C>G | CA377109096 | ADAMTS14 | c.3086C>G (p.Thr1029Arg) c.3095C>G (p.Thr1032Arg) c.2585C>G (p.Thr862Arg) c.2159C>G (p.Thr720Arg) c.1655C>G (p.Thr552Arg) | |
10 | g.70758193C>T | CA5540331 | ADAMTS14 | c.3086C>T (p.Thr1029Met) c.3095C>T (p.Thr1032Met) c.2585C>T (p.Thr862Met) c.2159C>T (p.Thr720Met) c.1655C>T (p.Thr552Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758194G>A | CA5540332 | ADAMTS14 | c.3087G>A (p.Thr1029=) c.3096G>A (p.Thr1032=) c.2586G>A (p.Thr862=) c.2160G>A (p.Thr720=) c.1656G>A (p.Thr552=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758194G>C | CA5540333 | ADAMTS14 | c.3087G>C (p.Thr1029=) c.3096G>C (p.Thr1032=) c.2586G>C (p.Thr862=) c.2160G>C (p.Thr720=) c.1656G>C (p.Thr552=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758194G= | CA1918399708 | ADAMTS14 | c.3087G= (p.Thr1029=) c.3096G= (p.Thr1032=) c.2586G= (p.Thr862=) c.2160G= (p.Thr720=) c.1656G= (p.Thr552=) | |
10 | g.70758194G>T | CA470056306 | ADAMTS14 | c.3087G>T (p.Thr1029=) c.3096G>T (p.Thr1032=) c.2586G>T (p.Thr862=) c.2160G>T (p.Thr720=) c.1656G>T (p.Thr552=) | gnomAD v4 |
10 | g.70758195G>A | CA377109097 | ADAMTS14 | c.3088G>A (p.Val1030Met) c.3097G>A (p.Val1033Met) c.2587G>A (p.Val863Met) c.2161G>A (p.Val721Met) c.1657G>A (p.Val553Met) | |
10 | g.70758195G>C | CA377109098 | ADAMTS14 | c.3088G>C (p.Val1030Leu) c.3097G>C (p.Val1033Leu) c.2587G>C (p.Val863Leu) c.2161G>C (p.Val721Leu) c.1657G>C (p.Val553Leu) | |
10 | g.70758195G>T | CA377109099 | ADAMTS14 | c.3088G>T (p.Val1030Leu) c.3097G>T (p.Val1033Leu) c.2587G>T (p.Val863Leu) c.2161G>T (p.Val721Leu) c.1657G>T (p.Val553Leu) | |
10 | g.70758196T>A | CA377109100 | ADAMTS14 | c.3089T>A (p.Val1030Glu) c.3098T>A (p.Val1033Glu) c.2588T>A (p.Val863Glu) c.2162T>A (p.Val721Glu) c.1658T>A (p.Val553Glu) | |
10 | g.70758196T>C | CA377109101 | ADAMTS14 | c.3089T>C (p.Val1030Ala) c.3098T>C (p.Val1033Ala) c.2588T>C (p.Val863Ala) c.2162T>C (p.Val721Ala) c.1658T>C (p.Val553Ala) | |
10 | g.70758196T>G | CA377109102 | ADAMTS14 | c.3089T>G (p.Val1030Gly) c.3098T>G (p.Val1033Gly) c.2588T>G (p.Val863Gly) c.2162T>G (p.Val721Gly) c.1658T>G (p.Val553Gly) | |
10 | g.70758197G>A | CA5540334 | ADAMTS14 | c.3090G>A (p.Val1030=) c.3099G>A (p.Val1033=) c.2589G>A (p.Val863=) c.2163G>A (p.Val721=) c.1659G>A (p.Val553=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758197G>C | CA470056307 | ADAMTS14 | c.3090G>C (p.Val1030=) c.3099G>C (p.Val1033=) c.2589G>C (p.Val863=) c.2163G>C (p.Val721=) c.1659G>C (p.Val553=) | |
10 | g.70758197G= | CA1918399709 | ADAMTS14 | c.3090G= (p.Val1030=) c.3099G= (p.Val1033=) c.2589G= (p.Val863=) c.2163G= (p.Val721=) c.1659G= (p.Val553=) | |
10 | g.70758197G>T | CA470056308 | ADAMTS14 | c.3090G>T (p.Val1030=) c.3099G>T (p.Val1033=) c.2589G>T (p.Val863=) c.2163G>T (p.Val721=) c.1659G>T (p.Val553=) | |
10 | g.70758198A>C | CA470056309 | ADAMTS14 | c.3091A>C (p.Arg1031=) c.3100A>C (p.Arg1034=) c.2590A>C (p.Arg864=) c.2164A>C (p.Arg722=) c.1660A>C (p.Arg554=) | |
10 | g.70758198A>G | CA377109104 | ADAMTS14 | c.3091A>G (p.Arg1031Gly) c.3100A>G (p.Arg1034Gly) c.2590A>G (p.Arg864Gly) c.2164A>G (p.Arg722Gly) c.1660A>G (p.Arg554Gly) | |
10 | g.70758198A>T | CA377109103 | ADAMTS14 | c.3091A>T (p.Arg1031Trp) c.3100A>T (p.Arg1034Trp) c.2590A>T (p.Arg864Trp) c.2164A>T (p.Arg722Trp) c.1660A>T (p.Arg554Trp) | |
10 | g.70758199G>A | CA377109105 | ADAMTS14 | c.3092G>A (p.Arg1031Lys) c.3101G>A (p.Arg1034Lys) c.2591G>A (p.Arg864Lys) c.2165G>A (p.Arg722Lys) c.1661G>A (p.Arg554Lys) | |
10 | g.70758199G>C | CA5540335 | ADAMTS14 | c.3092G>C (p.Arg1031Thr) c.3101G>C (p.Arg1034Thr) c.2591G>C (p.Arg864Thr) c.2165G>C (p.Arg722Thr) c.1661G>C (p.Arg554Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758199G= | CA1918399710 | ADAMTS14 | c.3092G= (p.Arg1031=) c.3101G= (p.Arg1034=) c.2591G= (p.Arg864=) c.2165G= (p.Arg722=) c.1661G= (p.Arg554=) | |
10 | g.70758199G>T | CA377109106 | ADAMTS14 | c.3092G>T (p.Arg1031Met) c.3101G>T (p.Arg1034Met) c.2591G>T (p.Arg864Met) c.2165G>T (p.Arg722Met) c.1661G>T (p.Arg554Met) | |
10 | g.70758200G>A | CA470056310 | ADAMTS14 | c.3093G>A (p.Arg1031=) c.3102G>A (p.Arg1034=) c.2592G>A (p.Arg864=) c.2166G>A (p.Arg722=) c.1662G>A (p.Arg554=) | dbSNP gnomAD v2 |
10 | g.70758200G>C | CA377109107 | ADAMTS14 | c.3093G>C (p.Arg1031Ser) c.3102G>C (p.Arg1034Ser) c.2592G>C (p.Arg864Ser) c.2166G>C (p.Arg722Ser) c.1662G>C (p.Arg554Ser) | |
10 | g.70758200G= | CA1918399711 | ADAMTS14 | c.3093G= (p.Arg1031=) c.3102G= (p.Arg1034=) c.2592G= (p.Arg864=) c.2166G= (p.Arg722=) c.1662G= (p.Arg554=) | |
10 | g.70758200G>T | CA377109108 | ADAMTS14 | c.3093G>T (p.Arg1031Ser) c.3102G>T (p.Arg1034Ser) c.2592G>T (p.Arg864Ser) c.2166G>T (p.Arg722Ser) c.1662G>T (p.Arg554Ser) | gnomAD v4 |
10 | g.70758201G>A | CA377109109 | ADAMTS14 | c.3094G>A (p.Ala1032Thr) c.3103G>A (p.Ala1035Thr) c.2593G>A (p.Ala865Thr) c.2167G>A (p.Ala723Thr) c.1663G>A (p.Ala555Thr) | gnomAD v4 |
10 | g.70758201G>C | CA377109110 | ADAMTS14 | c.3094G>C (p.Ala1032Pro) c.3103G>C (p.Ala1035Pro) c.2593G>C (p.Ala865Pro) c.2167G>C (p.Ala723Pro) c.1663G>C (p.Ala555Pro) | |
10 | g.70758201G>T | CA377109111 | ADAMTS14 | c.3094G>T (p.Ala1032Ser) c.3103G>T (p.Ala1035Ser) c.2593G>T (p.Ala865Ser) c.2167G>T (p.Ala723Ser) c.1663G>T (p.Ala555Ser) | |
10 | g.70758202C>A | CA377109112 | ADAMTS14 | c.3095C>A (p.Ala1032Asp) c.3104C>A (p.Ala1035Asp) c.2594C>A (p.Ala865Asp) c.2168C>A (p.Ala723Asp) c.1664C>A (p.Ala555Asp) | gnomAD v4 |
10 | g.70758202C>G | CA377109113 | ADAMTS14 | c.3095C>G (p.Ala1032Gly) c.3104C>G (p.Ala1035Gly) c.2594C>G (p.Ala865Gly) c.2168C>G (p.Ala723Gly) c.1664C>G (p.Ala555Gly) | |
10 | g.70758202C>T | CA377109114 | ADAMTS14 | c.3095C>T (p.Ala1032Val) c.3104C>T (p.Ala1035Val) c.2594C>T (p.Ala865Val) c.2168C>T (p.Ala723Val) c.1664C>T (p.Ala555Val) | |
10 | g.70758203C>A | CA470056311 | ADAMTS14 | c.3096C>A (p.Ala1032=) c.3105C>A (p.Ala1035=) c.2595C>A (p.Ala865=) c.2169C>A (p.Ala723=) c.1665C>A (p.Ala555=) | |
10 | g.70758203C= | CA1918399712 | ADAMTS14 | c.3096C= (p.Ala1032=) c.3105C= (p.Ala1035=) c.2595C= (p.Ala865=) c.2169C= (p.Ala723=) c.1665C= (p.Ala555=) | |
10 | g.70758203C>G | CA470056312 | ADAMTS14 | c.3096C>G (p.Ala1032=) c.3105C>G (p.Ala1035=) c.2595C>G (p.Ala865=) c.2169C>G (p.Ala723=) c.1665C>G (p.Ala555=) | |
10 | g.70758203C>T | CA5540336 | ADAMTS14 | c.3096C>T (p.Ala1032=) c.3105C>T (p.Ala1035=) c.2595C>T (p.Ala865=) c.2169C>T (p.Ala723=) c.1665C>T (p.Ala555=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758204G>A | CA5540337 | ADAMTS14 | c.3097G>A (p.Asp1033Asn) c.3106G>A (p.Asp1036Asn) c.2596G>A (p.Asp866Asn) c.2170G>A (p.Asp724Asn) c.1666G>A (p.Asp556Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.70758204G>C | CA377109115 | ADAMTS14 | c.3097G>C (p.Asp1033His) c.3106G>C (p.Asp1036His) c.2596G>C (p.Asp866His) c.2170G>C (p.Asp724His) c.1666G>C (p.Asp556His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758204G= | CA1918399713 | ADAMTS14 | c.3097G= (p.Asp1033=) c.3106G= (p.Asp1036=) c.2596G= (p.Asp866=) c.2170G= (p.Asp724=) c.1666G= (p.Asp556=) | |
10 | g.70758204G>T | CA5540338 | ADAMTS14 | c.3097G>T (p.Asp1033Tyr) c.3106G>T (p.Asp1036Tyr) c.2596G>T (p.Asp866Tyr) c.2170G>T (p.Asp724Tyr) c.1666G>T (p.Asp556Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758205A>C | CA377109118 | ADAMTS14 | c.3098A>C (p.Asp1033Ala) c.3107A>C (p.Asp1036Ala) c.2597A>C (p.Asp866Ala) c.2171A>C (p.Asp724Ala) c.1667A>C (p.Asp556Ala) | |
10 | g.70758205A>G | CA377109117 | ADAMTS14 | c.3098A>G (p.Asp1033Gly) c.3107A>G (p.Asp1036Gly) c.2597A>G (p.Asp866Gly) c.2171A>G (p.Asp724Gly) c.1667A>G (p.Asp556Gly) | |
10 | g.70758205A>T | CA377109116 | ADAMTS14 | c.3098A>T (p.Asp1033Val) c.3107A>T (p.Asp1036Val) c.2597A>T (p.Asp866Val) c.2171A>T (p.Asp724Val) c.1667A>T (p.Asp556Val) | |
10 | g.70758206T>A | CA377109119 | ADAMTS14 | c.3099T>A (p.Asp1033Glu) c.3108T>A (p.Asp1036Glu) c.2598T>A (p.Asp866Glu) c.2172T>A (p.Asp724Glu) c.1668T>A (p.Asp556Glu) | |
10 | g.70758206T>C | CA470056313 | ADAMTS14 | c.3099T>C (p.Asp1033=) c.3108T>C (p.Asp1036=) c.2598T>C (p.Asp866=) c.2172T>C (p.Asp724=) c.1668T>C (p.Asp556=) | |
10 | g.70758206T>G | CA377109120 | ADAMTS14 | c.3099T>G (p.Asp1033Glu) c.3108T>G (p.Asp1036Glu) c.2598T>G (p.Asp866Glu) c.2172T>G (p.Asp724Glu) c.1668T>G (p.Asp556Glu) | |
10 | g.70758207G>A | CA377109121 | ADAMTS14 | c.3100G>A (p.Val1034Ile) c.3109G>A (p.Val1037Ile) c.2599G>A (p.Val867Ile) c.2173G>A (p.Val725Ile) c.1669G>A (p.Val557Ile) | |
10 | g.70758207G>C | CA377109122 | ADAMTS14 | c.3100G>C (p.Val1034Leu) c.3109G>C (p.Val1037Leu) c.2599G>C (p.Val867Leu) c.2173G>C (p.Val725Leu) c.1669G>C (p.Val557Leu) | |
10 | g.70758207G>T | CA377109123 | ADAMTS14 | c.3100G>T (p.Val1034Phe) c.3109G>T (p.Val1037Phe) c.2599G>T (p.Val867Phe) c.2173G>T (p.Val725Phe) c.1669G>T (p.Val557Phe) | |
10 | g.70758208T>A | CA377109124 | ADAMTS14 | c.3101T>A (p.Val1034Asp) c.3110T>A (p.Val1037Asp) c.2600T>A (p.Val867Asp) c.2174T>A (p.Val725Asp) c.1670T>A (p.Val557Asp) | |
10 | g.70758208T>C | CA377109125 | ADAMTS14 | c.3101T>C (p.Val1034Ala) c.3110T>C (p.Val1037Ala) c.2600T>C (p.Val867Ala) c.2174T>C (p.Val725Ala) c.1670T>C (p.Val557Ala) | COSMIC |
10 | g.70758208T>G | CA377109126 | ADAMTS14 | c.3101T>G (p.Val1034Gly) c.3110T>G (p.Val1037Gly) c.2600T>G (p.Val867Gly) c.2174T>G (p.Val725Gly) c.1670T>G (p.Val557Gly) | |
10 | g.70758209C>A | CA470056314 | ADAMTS14 | c.3102C>A (p.Val1034=) c.3111C>A (p.Val1037=) c.2601C>A (p.Val867=) c.2175C>A (p.Val725=) c.1671C>A (p.Val557=) | |
10 | g.70758209C= | CA1918399714 | ADAMTS14 | c.3102C= (p.Val1034=) c.3111C= (p.Val1037=) c.2601C= (p.Val867=) c.2175C= (p.Val725=) c.1671C= (p.Val557=) | |
10 | g.70758209C>G | CA470056315 | ADAMTS14 | c.3102C>G (p.Val1034=) c.3111C>G (p.Val1037=) c.2601C>G (p.Val867=) c.2175C>G (p.Val725=) c.1671C>G (p.Val557=) | |
10 | g.70758209C>T | CA470056316 | ADAMTS14 | c.3102C>T (p.Val1034=) c.3111C>T (p.Val1037=) c.2601C>T (p.Val867=) c.2175C>T (p.Val725=) c.1671C>T (p.Val557=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758210T>A | CA377109127 | ADAMTS14 | c.3103T>A (p.Trp1035Arg) c.3112T>A (p.Trp1038Arg) c.2602T>A (p.Trp868Arg) c.2176T>A (p.Trp726Arg) c.1672T>A (p.Trp558Arg) | |
10 | g.70758210T>C | CA377109128 | ADAMTS14 | c.3103T>C (p.Trp1035Arg) c.3112T>C (p.Trp1038Arg) c.2602T>C (p.Trp868Arg) c.2176T>C (p.Trp726Arg) c.1672T>C (p.Trp558Arg) | |
10 | g.70758210T>G | CA377109129 | ADAMTS14 | c.3103T>G (p.Trp1035Gly) c.3112T>G (p.Trp1038Gly) c.2602T>G (p.Trp868Gly) c.2176T>G (p.Trp726Gly) c.1672T>G (p.Trp558Gly) | |
10 | g.70758211G>A | CA377109131 | ADAMTS14 | c.3104G>A (p.Trp1035Ter) c.3113G>A (p.Trp1038Ter) c.2603G>A (p.Trp868Ter) c.2177G>A (p.Trp726Ter) c.1673G>A (p.Trp558Ter) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.70758211G>C | CA377109132 | ADAMTS14 | c.3104G>C (p.Trp1035Ser) c.3113G>C (p.Trp1038Ser) c.2603G>C (p.Trp868Ser) c.2177G>C (p.Trp726Ser) c.1673G>C (p.Trp558Ser) | |
10 | g.70758211G= | CA1918399715 | ADAMTS14 | c.3104G= (p.Trp1035=) c.3113G= (p.Trp1038=) c.2603G= (p.Trp868=) c.2177G= (p.Trp726=) c.1673G= (p.Trp558=) | |
10 | g.70758211G>T | CA377109130 | ADAMTS14 | c.3104G>T (p.Trp1035Leu) c.3113G>T (p.Trp1038Leu) c.2603G>T (p.Trp868Leu) c.2177G>T (p.Trp726Leu) c.1673G>T (p.Trp558Leu) | |
10 | g.70758212G>A | CA377109133 | ADAMTS14 | c.3105G>A (p.Trp1035Ter) c.3114G>A (p.Trp1038Ter) c.2604G>A (p.Trp868Ter) c.2178G>A (p.Trp726Ter) c.1674G>A (p.Trp558Ter) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758212G>C | CA377109134 | ADAMTS14 | c.3105G>C (p.Trp1035Cys) c.3114G>C (p.Trp1038Cys) c.2604G>C (p.Trp868Cys) c.2178G>C (p.Trp726Cys) c.1674G>C (p.Trp558Cys) | |
10 | g.70758212G= | CA1918399716 | ADAMTS14 | c.3105G= (p.Trp1035=) c.3114G= (p.Trp1038=) c.2604G= (p.Trp868=) c.2178G= (p.Trp726=) c.1674G= (p.Trp558=) | |
10 | g.70758212G>T | CA377109135 | ADAMTS14 | c.3105G>T (p.Trp1035Cys) c.3114G>T (p.Trp1038Cys) c.2604G>T (p.Trp868Cys) c.2178G>T (p.Trp726Cys) c.1674G>T (p.Trp558Cys) | |
10 | g.70758213G>A | CA5540340 | ADAMTS14 | c.3106G>A (p.Glu1036Lys) c.3115G>A (p.Glu1039Lys) c.2605G>A (p.Glu869Lys) c.2179G>A (p.Glu727Lys) c.1675G>A (p.Glu559Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758213G>C | CA5540339 | ADAMTS14 | c.3106G>C (p.Glu1036Gln) c.3115G>C (p.Glu1039Gln) c.2605G>C (p.Glu869Gln) c.2179G>C (p.Glu727Gln) c.1675G>C (p.Glu559Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758213G= | CA1918399717 | ADAMTS14 | c.3106G= (p.Glu1036=) c.3115G= (p.Glu1039=) c.2605G= (p.Glu869=) c.2179G= (p.Glu727=) c.1675G= (p.Glu559=) | |
10 | g.70758213G>T | CA377109136 | ADAMTS14 | c.3106G>T (p.Glu1036Ter) c.3115G>T (p.Glu1039Ter) c.2605G>T (p.Glu869Ter) c.2179G>T (p.Glu727Ter) c.1675G>T (p.Glu559Ter) | |
10 | g.70758214A>C | CA377109137 | ADAMTS14 | c.3107A>C (p.Glu1036Ala) c.3116A>C (p.Glu1039Ala) c.2606A>C (p.Glu869Ala) c.2180A>C (p.Glu727Ala) c.1676A>C (p.Glu559Ala) | |
10 | g.70758214A>G | CA377109138 | ADAMTS14 | c.3107A>G (p.Glu1036Gly) c.3116A>G (p.Glu1039Gly) c.2606A>G (p.Glu869Gly) c.2180A>G (p.Glu727Gly) c.1676A>G (p.Glu559Gly) | |
10 | g.70758214A>T | CA377109139 | ADAMTS14 | c.3107A>T (p.Glu1036Val) c.3116A>T (p.Glu1039Val) c.2606A>T (p.Glu869Val) c.2180A>T (p.Glu727Val) c.1676A>T (p.Glu559Val) | |
10 | g.70758215A>C | CA377109140 | ADAMTS14 | c.3108A>C (p.Glu1036Asp) c.3117A>C (p.Glu1039Asp) c.2607A>C (p.Glu869Asp) c.2181A>C (p.Glu727Asp) c.1677A>C (p.Glu559Asp) | |
10 | g.70758215A>G | CA470056317 | ADAMTS14 | c.3108A>G (p.Glu1036=) c.3117A>G (p.Glu1039=) c.2607A>G (p.Glu869=) c.2181A>G (p.Glu727=) c.1677A>G (p.Glu559=) | |
10 | g.70758215A>T | CA377109141 | ADAMTS14 | c.3108A>T (p.Glu1036Asp) c.3117A>T (p.Glu1039Asp) c.2607A>T (p.Glu869Asp) c.2181A>T (p.Glu727Asp) c.1677A>T (p.Glu559Asp) | |
10 | g.70758216C>A | CA377109143 | ADAMTS14 | c.3109C>A (p.Leu1037Ile) c.3118C>A (p.Leu1040Ile) c.2608C>A (p.Leu870Ile) c.2182C>A (p.Leu728Ile) c.1678C>A (p.Leu560Ile) | dbSNP gnomAD v4 |
10 | g.70758216C= | CA1918399718 | ADAMTS14 | c.3109C= (p.Leu1037=) c.3118C= (p.Leu1040=) c.2608C= (p.Leu870=) c.2182C= (p.Leu728=) c.1678C= (p.Leu560=) | |
10 | g.70758216C>G | CA377109144 | ADAMTS14 | c.3109C>G (p.Leu1037Val) c.3118C>G (p.Leu1040Val) c.2608C>G (p.Leu870Val) c.2182C>G (p.Leu728Val) c.1678C>G (p.Leu560Val) | |
10 | g.70758216C>T | CA377109142 | ADAMTS14 | c.3109C>T (p.Leu1037Phe) c.3118C>T (p.Leu1040Phe) c.2608C>T (p.Leu870Phe) c.2182C>T (p.Leu728Phe) c.1678C>T (p.Leu560Phe) | |
10 | g.70758217T>A | CA377109145 | ADAMTS14 | c.3110T>A (p.Leu1037His) c.3119T>A (p.Leu1040His) c.2609T>A (p.Leu870His) c.2183T>A (p.Leu728His) c.1679T>A (p.Leu560His) | |
10 | g.70758217T>C | CA377109146 | ADAMTS14 | c.3110T>C (p.Leu1037Pro) c.3119T>C (p.Leu1040Pro) c.2609T>C (p.Leu870Pro) c.2183T>C (p.Leu728Pro) c.1679T>C (p.Leu560Pro) | COSMIC |
10 | g.70758217T>G | CA377109147 | ADAMTS14 | c.3110T>G (p.Leu1037Arg) c.3119T>G (p.Leu1040Arg) c.2609T>G (p.Leu870Arg) c.2183T>G (p.Leu728Arg) c.1679T>G (p.Leu560Arg) | gnomAD v4 |
10 | g.70758218T>A | CA470056318 | ADAMTS14 | c.3111T>A (p.Leu1037=) c.3120T>A (p.Leu1040=) c.2610T>A (p.Leu870=) c.2184T>A (p.Leu728=) c.1680T>A (p.Leu560=) | |
10 | g.70758218T>C | CA470056319 | ADAMTS14 | c.3111T>C (p.Leu1037=) c.3120T>C (p.Leu1040=) c.2610T>C (p.Leu870=) c.2184T>C (p.Leu728=) c.1680T>C (p.Leu560=) | |
10 | g.70758218T>G | CA470056320 | ADAMTS14 | c.3111T>G (p.Leu1037=) c.3120T>G (p.Leu1040=) c.2610T>G (p.Leu870=) c.2184T>G (p.Leu728=) c.1680T>G (p.Leu560=) | |
10 | g.70758219G>A | CA377109148 | ADAMTS14 | c.3112G>A (p.Gly1038Arg) c.3121G>A (p.Gly1041Arg) c.2611G>A (p.Gly871Arg) c.2185G>A (p.Gly729Arg) c.1681G>A (p.Gly561Arg) | |
10 | g.70758219G>C | CA377109149 | ADAMTS14 | c.3112G>C (p.Gly1038Arg) c.3121G>C (p.Gly1041Arg) c.2611G>C (p.Gly871Arg) c.2185G>C (p.Gly729Arg) c.1681G>C (p.Gly561Arg) | |
10 | g.70758219G>T | CA377109150 | ADAMTS14 | c.3112G>T (p.Gly1038Trp) c.3121G>T (p.Gly1041Trp) c.2611G>T (p.Gly871Trp) c.2185G>T (p.Gly729Trp) c.1681G>T (p.Gly561Trp) | |
10 | g.70758220G>A | CA377109151 | ADAMTS14 | c.3113G>A (p.Gly1038Glu) c.3122G>A (p.Gly1041Glu) c.2612G>A (p.Gly871Glu) c.2186G>A (p.Gly729Glu) c.1682G>A (p.Gly561Glu) | |
10 | g.70758220G>C | CA377109153 | ADAMTS14 | c.3113G>C (p.Gly1038Ala) c.3122G>C (p.Gly1041Ala) c.2612G>C (p.Gly871Ala) c.2186G>C (p.Gly729Ala) c.1682G>C (p.Gly561Ala) | |
10 | g.70758220G>T | CA377109152 | ADAMTS14 | c.3113G>T (p.Gly1038Val) c.3122G>T (p.Gly1041Val) c.2612G>T (p.Gly871Val) c.2186G>T (p.Gly729Val) c.1682G>T (p.Gly561Val) | |
10 | g.70758221G>A | CA5540341 | ADAMTS14 | c.3114G>A (p.Gly1038=) c.3123G>A (p.Gly1041=) c.2613G>A (p.Gly871=) c.2187G>A (p.Gly729=) c.1683G>A (p.Gly561=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758221G>C | CA470056321 | ADAMTS14 | c.3114G>C (p.Gly1038=) c.3123G>C (p.Gly1041=) c.2613G>C (p.Gly871=) c.2187G>C (p.Gly729=) c.1683G>C (p.Gly561=) | |
10 | g.70758221G= | CA1918399719 | ADAMTS14 | c.3114G= (p.Gly1038=) c.3123G= (p.Gly1041=) c.2613G= (p.Gly871=) c.2187G= (p.Gly729=) c.1683G= (p.Gly561=) | |
10 | g.70758221G>T | CA5540342 | ADAMTS14 | c.3114G>T (p.Gly1038=) c.3123G>T (p.Gly1041=) c.2613G>T (p.Gly871=) c.2187G>T (p.Gly729=) c.1683G>T (p.Gly561=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.70758222A>C | CA377109154 | ADAMTS14 | c.3115A>C (p.Thr1039Pro) c.3124A>C (p.Thr1042Pro) c.2614A>C (p.Thr872Pro) c.2188A>C (p.Thr730Pro) c.1684A>C (p.Thr562Pro) | |
10 | g.70758222A>G | CA377109155 | ADAMTS14 | c.3115A>G (p.Thr1039Ala) c.3124A>G (p.Thr1042Ala) c.2614A>G (p.Thr872Ala) c.2188A>G (p.Thr730Ala) c.1684A>G (p.Thr562Ala) | |
10 | g.70758222A>T | CA377109156 | ADAMTS14 | c.3115A>T (p.Thr1039Ser) c.3124A>T (p.Thr1042Ser) c.2614A>T (p.Thr872Ser) c.2188A>T (p.Thr730Ser) c.1684A>T (p.Thr562Ser) | |
10 | g.70758223C>A | CA377109157 | ADAMTS14 | c.3116C>A (p.Thr1039Lys) c.3125C>A (p.Thr1042Lys) c.2615C>A (p.Thr872Lys) c.2189C>A (p.Thr730Lys) c.1685C>A (p.Thr562Lys) | |
10 | g.70758223C= | CA1918399720 | ADAMTS14 | c.3116C= (p.Thr1039=) c.3125C= (p.Thr1042=) c.2615C= (p.Thr872=) c.2189C= (p.Thr730=) c.1685C= (p.Thr562=) | |
10 | g.70758223C>G | CA377109158 | ADAMTS14 | c.3116C>G (p.Thr1039Arg) c.3125C>G (p.Thr1042Arg) c.2615C>G (p.Thr872Arg) c.2189C>G (p.Thr730Arg) c.1685C>G (p.Thr562Arg) | |
10 | g.70758223C>T | CA5540343 | ADAMTS14 | c.3116C>T (p.Thr1039Met) c.3125C>T (p.Thr1042Met) c.2615C>T (p.Thr872Met) c.2189C>T (p.Thr730Met) c.1685C>T (p.Thr562Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758224G>A | CA5540344 | ADAMTS14 | c.3117G>A (p.Thr1039=) c.3126G>A (p.Thr1042=) c.2616G>A (p.Thr872=) c.2190G>A (p.Thr730=) c.1686G>A (p.Thr562=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.70758224G>C | CA470056322 | ADAMTS14 | c.3117G>C (p.Thr1039=) c.3126G>C (p.Thr1042=) c.2616G>C (p.Thr872=) c.2190G>C (p.Thr730=) c.1686G>C (p.Thr562=) | |
10 | g.70758224G= | CA1918399721 | ADAMTS14 | c.3117G= (p.Thr1039=) c.3126G= (p.Thr1042=) c.2616G= (p.Thr872=) c.2190G= (p.Thr730=) c.1686G= (p.Thr562=) | |
10 | g.70758224G>T | CA5540345 | ADAMTS14 | c.3117G>T (p.Thr1039=) c.3126G>T (p.Thr1042=) c.2616G>T (p.Thr872=) c.2190G>T (p.Thr730=) c.1686G>T (p.Thr562=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758225C>A | CA377109159 | ADAMTS14 | c.3118C>A (p.Pro1040Thr) c.3127C>A (p.Pro1043Thr) c.2617C>A (p.Pro873Thr) c.2191C>A (p.Pro731Thr) c.1687C>A (p.Pro563Thr) | |
10 | g.70758225C>G | CA377109160 | ADAMTS14 | c.3118C>G (p.Pro1040Ala) c.3127C>G (p.Pro1043Ala) c.2617C>G (p.Pro873Ala) c.2191C>G (p.Pro731Ala) c.1687C>G (p.Pro563Ala) | |
10 | g.70758225C>T | CA377109161 | ADAMTS14 | c.3118C>T (p.Pro1040Ser) c.3127C>T (p.Pro1043Ser) c.2617C>T (p.Pro873Ser) c.2191C>T (p.Pro731Ser) c.1687C>T (p.Pro563Ser) | gnomAD v4 |
10 | g.70758226C>A | CA377109162 | ADAMTS14 | c.3119C>A (p.Pro1040Gln) c.3128C>A (p.Pro1043Gln) c.2618C>A (p.Pro873Gln) c.2192C>A (p.Pro731Gln) c.1688C>A (p.Pro563Gln) | |
10 | g.70758226C>G | CA377109163 | ADAMTS14 | c.3119C>G (p.Pro1040Arg) c.3128C>G (p.Pro1043Arg) c.2618C>G (p.Pro873Arg) c.2192C>G (p.Pro731Arg) c.1688C>G (p.Pro563Arg) | |
10 | g.70758226C>T | CA377109164 | ADAMTS14 | c.3119C>T (p.Pro1040Leu) c.3128C>T (p.Pro1043Leu) c.2618C>T (p.Pro873Leu) c.2192C>T (p.Pro731Leu) c.1688C>T (p.Pro563Leu) | |
10 | g.70758227A>C | CA470056323 | ADAMTS14 | c.3120A>C (p.Pro1040=) c.3129A>C (p.Pro1043=) c.2619A>C (p.Pro873=) c.2193A>C (p.Pro731=) c.1689A>C (p.Pro563=) | COSMIC |
10 | g.70758227A>G | CA470056324 | ADAMTS14 | c.3120A>G (p.Pro1040=) c.3129A>G (p.Pro1043=) c.2619A>G (p.Pro873=) c.2193A>G (p.Pro731=) c.1689A>G (p.Pro563=) | |
10 | g.70758227A>T | CA470056325 | ADAMTS14 | c.3120A>T (p.Pro1040=) c.3129A>T (p.Pro1043=) c.2619A>T (p.Pro873=) c.2193A>T (p.Pro731=) c.1689A>T (p.Pro563=) | |
10 | g.70758228G>A | CA377109165 | ADAMTS14 | c.3121G>A (p.Glu1041Lys) c.3130G>A (p.Glu1044Lys) c.2620G>A (p.Glu874Lys) c.2194G>A (p.Glu732Lys) c.1690G>A (p.Glu564Lys) | gnomAD v4 |
10 | g.70758228G>C | CA377109166 | ADAMTS14 | c.3121G>C (p.Glu1041Gln) c.3130G>C (p.Glu1044Gln) c.2620G>C (p.Glu874Gln) c.2194G>C (p.Glu732Gln) c.1690G>C (p.Glu564Gln) | |
10 | g.70758228G>T | CA377109167 | ADAMTS14 | c.3121G>T (p.Glu1041Ter) c.3130G>T (p.Glu1044Ter) c.2620G>T (p.Glu874Ter) c.2194G>T (p.Glu732Ter) c.1690G>T (p.Glu564Ter) | |
10 | g.70758229A= | CA1918399722 | ADAMTS14 | c.3122A= (p.Glu1041=) c.3131A= (p.Glu1044=) c.2621A= (p.Glu874=) c.2195A= (p.Glu732=) c.1691A= (p.Glu564=) | |
10 | g.70758229A>C | CA377109168 | ADAMTS14 | c.3122A>C (p.Glu1041Ala) c.3131A>C (p.Glu1044Ala) c.2621A>C (p.Glu874Ala) c.2195A>C (p.Glu732Ala) c.1691A>C (p.Glu564Ala) | |
10 | g.70758229A>G | CA377109169 | ADAMTS14 | c.3122A>G (p.Glu1041Gly) c.3131A>G (p.Glu1044Gly) c.2621A>G (p.Glu874Gly) c.2195A>G (p.Glu732Gly) c.1691A>G (p.Glu564Gly) | |
10 | g.70758229A>T | CA377109170 | ADAMTS14 | c.3122A>T (p.Glu1041Val) c.3131A>T (p.Glu1044Val) c.2621A>T (p.Glu874Val) c.2195A>T (p.Glu732Val) c.1691A>T (p.Glu564Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758230G>A | CA470056326 | ADAMTS14 | c.3123G>A (p.Glu1041=) c.3132G>A (p.Glu1044=) c.2622G>A (p.Glu874=) c.2196G>A (p.Glu732=) c.1692G>A (p.Glu564=) | |
10 | g.70758230G>C | CA377109171 | ADAMTS14 | c.3123G>C (p.Glu1041Asp) c.3132G>C (p.Glu1044Asp) c.2622G>C (p.Glu874Asp) c.2196G>C (p.Glu732Asp) c.1692G>C (p.Glu564Asp) | |
10 | g.70758230G>T | CA377109172 | ADAMTS14 | c.3123G>T (p.Glu1041Asp) c.3132G>T (p.Glu1044Asp) c.2622G>T (p.Glu874Asp) c.2196G>T (p.Glu732Asp) c.1692G>T (p.Glu564Asp) | |
10 | g.70758233del | CA2722239142 | ADAMTS14 | c.3126del (p.Gln1043SerfsTer?) c.3135del (p.Gln1046SerfsTer?) c.2625del (p.Gln876SerfsTer?) c.2199del (p.Gln734SerfsTer?) c.1695del (p.Gln566SerfsTer?) | dbSNP |
10 | g.70758231G>A | CA377109173 | ADAMTS14 | c.3124G>A (p.Gly1042Arg) c.3133G>A (p.Gly1045Arg) c.2623G>A (p.Gly875Arg) c.2197G>A (p.Gly733Arg) c.1693G>A (p.Gly565Arg) | gnomAD v4 COSMIC |
10 | g.70758231G>C | CA377109174 | ADAMTS14 | c.3124G>C (p.Gly1042Arg) c.3133G>C (p.Gly1045Arg) c.2623G>C (p.Gly875Arg) c.2197G>C (p.Gly733Arg) c.1693G>C (p.Gly565Arg) | |
10 | g.70758231G>T | CA377109175 | ADAMTS14 | c.3124G>T (p.Gly1042Trp) c.3133G>T (p.Gly1045Trp) c.2623G>T (p.Gly875Trp) c.2197G>T (p.Gly733Trp) c.1693G>T (p.Gly565Trp) | |
10 | g.70758232G>A | CA377109176 | ADAMTS14 | c.3125G>A (p.Gly1042Glu) c.3134G>A (p.Gly1045Glu) c.2624G>A (p.Gly875Glu) c.2198G>A (p.Gly733Glu) c.1694G>A (p.Gly565Glu) | dbSNP |
10 | g.70758232G>C | CA377109177 | ADAMTS14 | c.3125G>C (p.Gly1042Ala) c.3134G>C (p.Gly1045Ala) c.2624G>C (p.Gly875Ala) c.2198G>C (p.Gly733Ala) c.1694G>C (p.Gly565Ala) | |
10 | g.70758232G= | CA1918399723 | ADAMTS14 | c.3125G= (p.Gly1042=) c.3134G= (p.Gly1045=) c.2624G= (p.Gly875=) c.2198G= (p.Gly733=) c.1694G= (p.Gly565=) | |
10 | g.70758232G>T | CA377109178 | ADAMTS14 | c.3125G>T (p.Gly1042Val) c.3134G>T (p.Gly1045Val) c.2624G>T (p.Gly875Val) c.2198G>T (p.Gly733Val) c.1694G>T (p.Gly565Val) | |
10 | g.70758233G>A | CA470056327 | ADAMTS14 | c.3126G>A (p.Gly1042=) c.3135G>A (p.Gly1045=) c.2625G>A (p.Gly875=) c.2199G>A (p.Gly733=) c.1695G>A (p.Gly565=) | |
10 | g.70758233G>C | CA470056329 | ADAMTS14 | c.3126G>C (p.Gly1042=) c.3135G>C (p.Gly1045=) c.2625G>C (p.Gly875=) c.2199G>C (p.Gly733=) c.1695G>C (p.Gly565=) | |
10 | g.70758233G>T | CA470056328 | ADAMTS14 | c.3126G>T (p.Gly1042=) c.3135G>T (p.Gly1045=) c.2625G>T (p.Gly875=) c.2199G>T (p.Gly733=) c.1695G>T (p.Gly565=) | gnomAD v4 COSMIC |
10 | g.70758234C>A | CA377109179 | ADAMTS14 | c.3127C>A (p.Gln1043Lys) c.3136C>A (p.Gln1046Lys) c.2626C>A (p.Gln876Lys) c.2200C>A (p.Gln734Lys) c.1696C>A (p.Gln566Lys) | |
10 | g.70758234C>G | CA377109180 | ADAMTS14 | c.3127C>G (p.Gln1043Glu) c.3136C>G (p.Gln1046Glu) c.2626C>G (p.Gln876Glu) c.2200C>G (p.Gln734Glu) c.1696C>G (p.Gln566Glu) | |
10 | g.70758234C>T | CA377109181 | ADAMTS14 | c.3127C>T (p.Gln1043Ter) c.3136C>T (p.Gln1046Ter) c.2626C>T (p.Gln876Ter) c.2200C>T (p.Gln734Ter) c.1696C>T (p.Gln566Ter) | gnomAD v4 |
10 | g.70758235A>C | CA377109182 | ADAMTS14 | c.3128A>C (p.Gln1043Pro) c.3137A>C (p.Gln1046Pro) c.2627A>C (p.Gln876Pro) c.2201A>C (p.Gln734Pro) c.1697A>C (p.Gln566Pro) | |
10 | g.70758235A>G | CA377109183 | ADAMTS14 | c.3128A>G (p.Gln1043Arg) c.3137A>G (p.Gln1046Arg) c.2627A>G (p.Gln876Arg) c.2201A>G (p.Gln734Arg) c.1697A>G (p.Gln566Arg) | |
10 | g.70758235A>T | CA377109184 | ADAMTS14 | c.3128A>T (p.Gln1043Leu) c.3137A>T (p.Gln1046Leu) c.2627A>T (p.Gln876Leu) c.2201A>T (p.Gln734Leu) c.1697A>T (p.Gln566Leu) | |
10 | g.70758236G>A | CA5540346 | ADAMTS14 | c.3129G>A (p.Gln1043=) c.3138G>A (p.Gln1046=) c.2628G>A (p.Gln876=) c.2202G>A (p.Gln734=) c.1698G>A (p.Gln566=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758236G>C | CA377109186 | ADAMTS14 | c.3129G>C (p.Gln1043His) c.3138G>C (p.Gln1046His) c.2628G>C (p.Gln876His) c.2202G>C (p.Gln734His) c.1698G>C (p.Gln566His) | |
10 | g.70758236G= | CA1918399724 | ADAMTS14 | c.3129G= (p.Gln1043=) c.3138G= (p.Gln1046=) c.2628G= (p.Gln876=) c.2202G= (p.Gln734=) c.1698G= (p.Gln566=) | |
10 | g.70758236G>T | CA377109185 | ADAMTS14 | c.3129G>T (p.Gln1043His) c.3138G>T (p.Gln1046His) c.2628G>T (p.Gln876His) c.2202G>T (p.Gln734His) c.1698G>T (p.Gln566His) | |
10 | g.70758237T>A | CA377109187 | ADAMTS14 | c.3130T>A (p.Trp1044Arg) c.3139T>A (p.Trp1047Arg) c.2629T>A (p.Trp877Arg) c.2203T>A (p.Trp735Arg) c.1699T>A (p.Trp567Arg) | |
10 | g.70758237T>C | CA377109188 | ADAMTS14 | c.3130T>C (p.Trp1044Arg) c.3139T>C (p.Trp1047Arg) c.2629T>C (p.Trp877Arg) c.2203T>C (p.Trp735Arg) c.1699T>C (p.Trp567Arg) | |
10 | g.70758237T>G | CA377109189 | ADAMTS14 | c.3130T>G (p.Trp1044Gly) c.3139T>G (p.Trp1047Gly) c.2629T>G (p.Trp877Gly) c.2203T>G (p.Trp735Gly) c.1699T>G (p.Trp567Gly) | |
10 | g.70758238G>A | CA377109190 | ADAMTS14 | c.3131G>A (p.Trp1044Ter) c.3140G>A (p.Trp1047Ter) c.2630G>A (p.Trp877Ter) c.2204G>A (p.Trp735Ter) c.1700G>A (p.Trp567Ter) | |
10 | g.70758238G>C | CA377109191 | ADAMTS14 | c.3131G>C (p.Trp1044Ser) c.3140G>C (p.Trp1047Ser) c.2630G>C (p.Trp877Ser) c.2204G>C (p.Trp735Ser) c.1700G>C (p.Trp567Ser) | |
10 | g.70758238G>T | CA377109192 | ADAMTS14 | c.3131G>T (p.Trp1044Leu) c.3140G>T (p.Trp1047Leu) c.2630G>T (p.Trp877Leu) c.2204G>T (p.Trp735Leu) c.1700G>T (p.Trp567Leu) | |
10 | g.70758239G>A | CA377109193 | ADAMTS14 | c.3132G>A (p.Trp1044Ter) c.3141G>A (p.Trp1047Ter) c.2631G>A (p.Trp877Ter) c.2205G>A (p.Trp735Ter) c.1701G>A (p.Trp567Ter) | |
10 | g.70758239G>C | CA377109194 | ADAMTS14 | c.3132G>C (p.Trp1044Cys) c.3141G>C (p.Trp1047Cys) c.2631G>C (p.Trp877Cys) c.2205G>C (p.Trp735Cys) c.1701G>C (p.Trp567Cys) | gnomAD v4 |
10 | g.70758239G>T | CA377109195 | ADAMTS14 | c.3132G>T (p.Trp1044Cys) c.3141G>T (p.Trp1047Cys) c.2631G>T (p.Trp877Cys) c.2205G>T (p.Trp735Cys) c.1701G>T (p.Trp567Cys) | gnomAD v4 |
10 | g.70758240G>A | CA377109196 | ADAMTS14 | c.3133G>A (p.Val1045Met) c.3142G>A (p.Val1048Met) c.2632G>A (p.Val878Met) c.2206G>A (p.Val736Met) c.1702G>A (p.Val568Met) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758240G>C | CA377109197 | ADAMTS14 | c.3133G>C (p.Val1045Leu) c.3142G>C (p.Val1048Leu) c.2632G>C (p.Val878Leu) c.2206G>C (p.Val736Leu) c.1702G>C (p.Val568Leu) | |
10 | g.70758240G= | CA1918399725 | ADAMTS14 | c.3133G= (p.Val1045=) c.3142G= (p.Val1048=) c.2632G= (p.Val878=) c.2206G= (p.Val736=) c.1702G= (p.Val568=) | |
10 | g.70758240G>T | CA377109198 | ADAMTS14 | c.3133G>T (p.Val1045Leu) c.3142G>T (p.Val1048Leu) c.2632G>T (p.Val878Leu) c.2206G>T (p.Val736Leu) c.1702G>T (p.Val568Leu) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.70758241T>A | CA377109199 | ADAMTS14 | c.3134T>A (p.Val1045Glu) c.3143T>A (p.Val1048Glu) c.2633T>A (p.Val878Glu) c.2207T>A (p.Val736Glu) c.1703T>A (p.Val568Glu) | |
10 | g.70758241T>C | CA377109200 | ADAMTS14 | c.3134T>C (p.Val1045Ala) c.3143T>C (p.Val1048Ala) c.2633T>C (p.Val878Ala) c.2207T>C (p.Val736Ala) c.1703T>C (p.Val568Ala) | |
10 | g.70758241T>G | CA377109201 | ADAMTS14 | c.3134T>G (p.Val1045Gly) c.3143T>G (p.Val1048Gly) c.2633T>G (p.Val878Gly) c.2207T>G (p.Val736Gly) c.1703T>G (p.Val568Gly) | |
10 | g.70758241T= | CA1918399726 | ADAMTS14 | c.3134T= (p.Val1045=) c.3143T= (p.Val1048=) c.2633T= (p.Val878=) c.2207T= (p.Val736=) c.1703T= (p.Val568=) | |
10 | g.70758242G>A | CA209416133 | ADAMTS14 | c.3135G>A (p.Val1045=) c.3144G>A (p.Val1048=) c.2634G>A (p.Val878=) c.2208G>A (p.Val736=) c.1704G>A (p.Val568=) | dbSNP |
10 | g.70758242G>C | CA470056330 | ADAMTS14 | c.3135G>C (p.Val1045=) c.3144G>C (p.Val1048=) c.2634G>C (p.Val878=) c.2208G>C (p.Val736=) c.1704G>C (p.Val568=) | |
10 | g.70758242G= | CA1918399727 | ADAMTS14 | c.3135G= (p.Val1045=) c.3144G= (p.Val1048=) c.2634G= (p.Val878=) c.2208G= (p.Val736=) c.1704G= (p.Val568=) | |
10 | g.70758242G>T | CA470056331 | ADAMTS14 | c.3135G>T (p.Val1045=) c.3144G>T (p.Val1048=) c.2634G>T (p.Val878=) c.2208G>T (p.Val736=) c.1704G>T (p.Val568=) | |
10 | g.70758242_70758244dup | CA912970372 | ADAMTS14 | c.3135_3137dup (p.Pro1046_Gln1047insPro) c.3144_3146dup (p.Pro1049_Gln1050insPro) c.2634_2636dup (p.Pro879_Gln880insPro) c.2208_2210dup (p.Pro737_Gln738insPro) c.1704_1706dup (p.Pro569_Gln570insPro) | dbSNP gnomAD v4 |
10 | g.70758243C>A | CA377109202 | ADAMTS14 | c.3136C>A (p.Pro1046Thr) c.3145C>A (p.Pro1049Thr) c.2635C>A (p.Pro879Thr) c.2209C>A (p.Pro737Thr) c.1705C>A (p.Pro569Thr) | |
10 | g.70758243C>G | CA377109203 | ADAMTS14 | c.3136C>G (p.Pro1046Ala) c.3145C>G (p.Pro1049Ala) c.2635C>G (p.Pro879Ala) c.2209C>G (p.Pro737Ala) c.1705C>G (p.Pro569Ala) | |
10 | g.70758243C>T | CA377109204 | ADAMTS14 | c.3136C>T (p.Pro1046Ser) c.3145C>T (p.Pro1049Ser) c.2635C>T (p.Pro879Ser) c.2209C>T (p.Pro737Ser) c.1705C>T (p.Pro569Ser) | |
10 | g.70758244C>A | CA377109205 | ADAMTS14 | c.3137C>A (p.Pro1046Gln) c.3146C>A (p.Pro1049Gln) c.2636C>A (p.Pro879Gln) c.2210C>A (p.Pro737Gln) c.1706C>A (p.Pro569Gln) | |
10 | g.70758244C>G | CA377109206 | ADAMTS14 | c.3137C>G (p.Pro1046Arg) c.3146C>G (p.Pro1049Arg) c.2636C>G (p.Pro879Arg) c.2210C>G (p.Pro737Arg) c.1706C>G (p.Pro569Arg) | |
10 | g.70758244C>T | CA377109207 | ADAMTS14 | c.3137C>T (p.Pro1046Leu) c.3146C>T (p.Pro1049Leu) c.2636C>T (p.Pro879Leu) c.2210C>T (p.Pro737Leu) c.1706C>T (p.Pro569Leu) | COSMIC |
10 | g.70758245A>C | CA470056332 | ADAMTS14 | c.3138A>C (p.Pro1046=) c.3147A>C (p.Pro1049=) c.2637A>C (p.Pro879=) c.2211A>C (p.Pro737=) c.1707A>C (p.Pro569=) | |
10 | g.70758245A>G | CA470056333 | ADAMTS14 | c.3138A>G (p.Pro1046=) c.3147A>G (p.Pro1049=) c.2637A>G (p.Pro879=) c.2211A>G (p.Pro737=) c.1707A>G (p.Pro569=) | |
10 | g.70758245A>T | CA470056334 | ADAMTS14 | c.3138A>T (p.Pro1046=) c.3147A>T (p.Pro1049=) c.2637A>T (p.Pro879=) c.2211A>T (p.Pro737=) c.1707A>T (p.Pro569=) | |
10 | g.70758246C>A | CA377109208 | ADAMTS14 | c.3139C>A (p.Gln1047Lys) c.3148C>A (p.Gln1050Lys) c.2638C>A (p.Gln880Lys) c.2212C>A (p.Gln738Lys) c.1708C>A (p.Gln570Lys) | |
10 | g.70758246C>G | CA377109209 | ADAMTS14 | c.3139C>G (p.Gln1047Glu) c.3148C>G (p.Gln1050Glu) c.2638C>G (p.Gln880Glu) c.2212C>G (p.Gln738Glu) c.1708C>G (p.Gln570Glu) | |
10 | g.70758246C>T | CA377109210 | ADAMTS14 | c.3139C>T (p.Gln1047Ter) c.3148C>T (p.Gln1050Ter) c.2638C>T (p.Gln880Ter) c.2212C>T (p.Gln738Ter) c.1708C>T (p.Gln570Ter) | |
10 | g.70758247A>C | CA377109211 | ADAMTS14 | c.3140A>C (p.Gln1047Pro) c.3149A>C (p.Gln1050Pro) c.2639A>C (p.Gln880Pro) c.2213A>C (p.Gln738Pro) c.1709A>C (p.Gln570Pro) | |
10 | g.70758247A>G | CA377109212 | ADAMTS14 | c.3140A>G (p.Gln1047Arg) c.3149A>G (p.Gln1050Arg) c.2639A>G (p.Gln880Arg) c.2213A>G (p.Gln738Arg) c.1709A>G (p.Gln570Arg) | |
10 | g.70758247A>T | CA377109213 | ADAMTS14 | c.3140A>T (p.Gln1047Leu) c.3149A>T (p.Gln1050Leu) c.2639A>T (p.Gln880Leu) c.2213A>T (p.Gln738Leu) c.1709A>T (p.Gln570Leu) | |
10 | g.70758248A= | CA1918399728 | ADAMTS14 | c.3141A= (p.Gln1047=) c.3150A= (p.Gln1050=) c.2640A= (p.Gln880=) c.2214A= (p.Gln738=) c.1710A= (p.Gln570=) | |
10 | g.70758248A>C | CA377109214 | ADAMTS14 | c.3141A>C (p.Gln1047His) c.3150A>C (p.Gln1050His) c.2640A>C (p.Gln880His) c.2214A>C (p.Gln738His) c.1710A>C (p.Gln570His) | |
10 | g.70758248A>G | CA470056343 | ADAMTS14 | c.3141A>G (p.Gln1047=) c.3150A>G (p.Gln1050=) c.2640A>G (p.Gln880=) c.2214A>G (p.Gln738=) c.1710A>G (p.Gln570=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758248A>T | CA377109215 | ADAMTS14 | c.3141A>T (p.Gln1047His) c.3150A>T (p.Gln1050His) c.2640A>T (p.Gln880His) c.2214A>T (p.Gln738His) c.1710A>T (p.Gln570His) | |
10 | g.70758249T>A | CA377109218 | ADAMTS14 | c.3142T>A (p.Ser1048Thr) c.3151T>A (p.Ser1051Thr) c.2641T>A (p.Ser881Thr) c.2215T>A (p.Ser739Thr) c.1711T>A (p.Ser571Thr) | |
10 | g.70758249T>C | CA377109217 | ADAMTS14 | c.3142T>C (p.Ser1048Pro) c.3151T>C (p.Ser1051Pro) c.2641T>C (p.Ser881Pro) c.2215T>C (p.Ser739Pro) c.1711T>C (p.Ser571Pro) | |
10 | g.70758249T>G | CA377109216 | ADAMTS14 | c.3142T>G (p.Ser1048Ala) c.3151T>G (p.Ser1051Ala) c.2641T>G (p.Ser881Ala) c.2215T>G (p.Ser739Ala) c.1711T>G (p.Ser571Ala) | |
10 | g.70758250C>A | CA377109219 | ADAMTS14 | c.3143C>A (p.Ser1048Tyr) c.3152C>A (p.Ser1051Tyr) c.2642C>A (p.Ser881Tyr) c.2216C>A (p.Ser739Tyr) c.1712C>A (p.Ser571Tyr) | |
10 | g.70758250C>G | CA377109221 | ADAMTS14 | c.3143C>G (p.Ser1048Cys) c.3152C>G (p.Ser1051Cys) c.2642C>G (p.Ser881Cys) c.2216C>G (p.Ser739Cys) c.1712C>G (p.Ser571Cys) | gnomAD v4 |
10 | g.70758250C>T | CA377109220 | ADAMTS14 | c.3143C>T (p.Ser1048Phe) c.3152C>T (p.Ser1051Phe) c.2642C>T (p.Ser881Phe) c.2216C>T (p.Ser739Phe) c.1712C>T (p.Ser571Phe) | |
10 | g.70758251T>A | CA470056352 | ADAMTS14 | c.3144T>A (p.Ser1048=) c.3153T>A (p.Ser1051=) c.2643T>A (p.Ser881=) c.2217T>A (p.Ser739=) c.1713T>A (p.Ser571=) | |
10 | g.70758251T>C | CA470056353 | ADAMTS14 | c.3144T>C (p.Ser1048=) c.3153T>C (p.Ser1051=) c.2643T>C (p.Ser881=) c.2217T>C (p.Ser739=) c.1713T>C (p.Ser571=) | |
10 | g.70758251T>G | CA470056355 | ADAMTS14 | c.3144T>G (p.Ser1048=) c.3153T>G (p.Ser1051=) c.2643T>G (p.Ser881=) c.2217T>G (p.Ser739=) c.1713T>G (p.Ser571=) | |
10 | g.70758252G>A | CA377109222 | ADAMTS14 | c.3145G>A (p.Glu1049Lys) c.3154G>A (p.Glu1052Lys) c.2644G>A (p.Glu882Lys) c.2218G>A (p.Glu740Lys) c.1714G>A (p.Glu572Lys) | dbSNP |
10 | g.70758252G>C | CA377109224 | ADAMTS14 | c.3145G>C (p.Glu1049Gln) c.3154G>C (p.Glu1052Gln) c.2644G>C (p.Glu882Gln) c.2218G>C (p.Glu740Gln) c.1714G>C (p.Glu572Gln) | dbSNP |
10 | g.70758252G= | CA1918399729 | ADAMTS14 | c.3145G= (p.Glu1049=) c.3154G= (p.Glu1052=) c.2644G= (p.Glu882=) c.2218G= (p.Glu740=) c.1714G= (p.Glu572=) | |
10 | g.70758252G>T | CA377109223 | ADAMTS14 | c.3145G>T (p.Glu1049Ter) c.3154G>T (p.Glu1052Ter) c.2644G>T (p.Glu882Ter) c.2218G>T (p.Glu740Ter) c.1714G>T (p.Glu572Ter) | |
10 | g.70758253A= | CA1918399730 | ADAMTS14 | c.3146A= (p.Glu1049=) c.3155A= (p.Glu1052=) c.2645A= (p.Glu882=) c.2219A= (p.Glu740=) c.1715A= (p.Glu572=) | |
10 | g.70758253A>C | CA377109225 | ADAMTS14 | c.3146A>C (p.Glu1049Ala) c.3155A>C (p.Glu1052Ala) c.2645A>C (p.Glu882Ala) c.2219A>C (p.Glu740Ala) c.1715A>C (p.Glu572Ala) | |
10 | g.70758253A>G | CA5540347 | ADAMTS14 | c.3146A>G (p.Glu1049Gly) c.3155A>G (p.Glu1052Gly) c.2645A>G (p.Glu882Gly) c.2219A>G (p.Glu740Gly) c.1715A>G (p.Glu572Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.70758253A>T | CA209416137 | ADAMTS14 | c.3146A>T (p.Glu1049Val) c.3155A>T (p.Glu1052Val) c.2645A>T (p.Glu882Val) c.2219A>T (p.Glu740Val) c.1715A>T (p.Glu572Val) | dbSNP |