| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.100132092_100132111del | CA2630607958 | ADAMTS17 | c.1622_1641del (p.His541ProfsTer24) n.1303_1322del c.1754_1773del (p.His585ProfsTer24) c.1025_1044del (p.His342ProfsTer24) c.656_675del (p.His219ProfsTer24) c.434_453del (p.His145ProfsTer24) c.143_162del (p.His48ProfsTer24) c.27-15093_27-15074del (n.27-15093_27-15074del) c.893_912del (p.His298ProfsTer24) n.2776_2795del | gnomAD v4 |
| 15 | g.100132098C>A | CA393933673 | ADAMTS17 | c.1630G>T (p.Gly544Ter) n.1311G>T c.1762G>T (p.Gly588Ter) c.1033G>T (p.Gly345Ter) c.664G>T (p.Gly222Ter) c.442G>T (p.Gly148Ter) c.151G>T (p.Gly51Ter) c.27-15085G>T (n.27-15085G>T) c.901G>T (p.Gly301Ter) n.2784G>T | ClinVar |
| 15 | g.100132098C= | CA2199864596 | ADAMTS17 | c.1630G= (p.Gly544=) n.1311G= c.1762G= (p.Gly588=) c.1033G= (p.Gly345=) c.664G= (p.Gly222=) c.442G= (p.Gly148=) c.151G= (p.Gly51=) c.27-15085G= (n.27-15085G=) c.901G= (p.Gly301=) n.2784G= | |
| 15 | g.100132098C>G | CA393933674 | ADAMTS17 | c.1630G>C (p.Gly544Arg) n.1311G>C c.1762G>C (p.Gly588Arg) c.1033G>C (p.Gly345Arg) c.664G>C (p.Gly222Arg) c.442G>C (p.Gly148Arg) c.151G>C (p.Gly51Arg) c.27-15085G>C (n.27-15085G>C) c.901G>C (p.Gly301Arg) n.2784G>C | |
| 15 | g.100132098C>T | CA7758143 | ADAMTS17 | c.1630G>A (p.Gly544Arg) n.1311G>A c.1762G>A (p.Gly588Arg) c.1033G>A (p.Gly345Arg) c.664G>A (p.Gly222Arg) c.442G>A (p.Gly148Arg) c.151G>A (p.Gly51Arg) c.27-15085G>A (n.27-15085G>A) c.901G>A (p.Gly301Arg) n.2784G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132099G>A | CA7758144 | ADAMTS17 | c.1629C>T (p.Asp543=) n.1310C>T c.1761C>T (p.Asp587=) c.1032C>T (p.Asp344=) c.663C>T (p.Asp221=) c.441C>T (p.Asp147=) c.150C>T (p.Asp50=) c.27-15086C>T (n.27-15086C>T) c.900C>T (p.Asp300=) n.2783C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132099G>C | CA393933675 | ADAMTS17 | c.1629C>G (p.Asp543Glu) n.1310C>G c.1761C>G (p.Asp587Glu) c.1032C>G (p.Asp344Glu) c.663C>G (p.Asp221Glu) c.441C>G (p.Asp147Glu) c.150C>G (p.Asp50Glu) c.27-15086C>G (n.27-15086C>G) c.900C>G (p.Asp300Glu) n.2783C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132099G= | CA2199864602 | ADAMTS17 | c.1629C= (p.Asp543=) n.1310C= c.1761C= (p.Asp587=) c.1032C= (p.Asp344=) c.663C= (p.Asp221=) c.441C= (p.Asp147=) c.150C= (p.Asp50=) c.27-15086C= (n.27-15086C=) c.900C= (p.Asp300=) n.2783C= | |
| 15 | g.100132099G>T | CA393933676 | ADAMTS17 | c.1629C>A (p.Asp543Glu) n.1310C>A c.1761C>A (p.Asp587Glu) c.1032C>A (p.Asp344Glu) c.663C>A (p.Asp221Glu) c.441C>A (p.Asp147Glu) c.150C>A (p.Asp50Glu) c.27-15086C>A (n.27-15086C>A) c.900C>A (p.Asp300Glu) n.2783C>A | gnomAD v4 COSMIC |
| 15 | g.100132100T>A | CA393933677 | ADAMTS17 | c.1628A>T (p.Asp543Val) n.1309A>T c.1760A>T (p.Asp587Val) c.1031A>T (p.Asp344Val) c.662A>T (p.Asp221Val) c.440A>T (p.Asp147Val) c.149A>T (p.Asp50Val) c.27-15087A>T (n.27-15087A>T) c.899A>T (p.Asp300Val) n.2782A>T | |
| 15 | g.100132100T>C | CA393933678 | ADAMTS17 | c.1628A>G (p.Asp543Gly) n.1309A>G c.1760A>G (p.Asp587Gly) c.1031A>G (p.Asp344Gly) c.662A>G (p.Asp221Gly) c.440A>G (p.Asp147Gly) c.149A>G (p.Asp50Gly) c.27-15087A>G (n.27-15087A>G) c.899A>G (p.Asp300Gly) n.2782A>G | |
| 15 | g.100132100T>G | CA393933679 | ADAMTS17 | c.1628A>C (p.Asp543Ala) n.1309A>C c.1760A>C (p.Asp587Ala) c.1031A>C (p.Asp344Ala) c.662A>C (p.Asp221Ala) c.440A>C (p.Asp147Ala) c.149A>C (p.Asp50Ala) c.27-15087A>C (n.27-15087A>C) c.899A>C (p.Asp300Ala) n.2782A>C | |
| 15 | g.100132101C>A | CA393933680 | ADAMTS17 | c.1627G>T (p.Asp543Tyr) n.1308G>T c.1759G>T (p.Asp587Tyr) c.1030G>T (p.Asp344Tyr) c.661G>T (p.Asp221Tyr) c.439G>T (p.Asp147Tyr) c.148G>T (p.Asp50Tyr) c.27-15088G>T (n.27-15088G>T) c.898G>T (p.Asp300Tyr) n.2781G>T | |
| 15 | g.100132101C>G | CA393933682 | ADAMTS17 | c.1627G>C (p.Asp543His) n.1308G>C c.1759G>C (p.Asp587His) c.1030G>C (p.Asp344His) c.661G>C (p.Asp221His) c.439G>C (p.Asp147His) c.148G>C (p.Asp50His) c.27-15088G>C (n.27-15088G>C) c.898G>C (p.Asp300His) n.2781G>C | |
| 15 | g.100132101C>T | CA393933681 | ADAMTS17 | c.1627G>A (p.Asp543Asn) n.1308G>A c.1759G>A (p.Asp587Asn) c.1030G>A (p.Asp344Asn) c.661G>A (p.Asp221Asn) c.439G>A (p.Asp147Asn) c.148G>A (p.Asp50Asn) c.27-15088G>A (n.27-15088G>A) c.898G>A (p.Asp300Asn) n.2781G>A | |
| 15 | g.100132102C>A | CA492384771 | ADAMTS17 | c.1626G>T (p.Val542=) n.1307G>T c.1758G>T (p.Val586=) c.1029G>T (p.Val343=) c.660G>T (p.Val220=) c.438G>T (p.Val146=) c.147G>T (p.Val49=) c.27-15089G>T (n.27-15089G>T) c.897G>T (p.Val299=) n.2780G>T | |
| 15 | g.100132102C>G | CA492384772 | ADAMTS17 | c.1626G>C (p.Val542=) n.1307G>C c.1758G>C (p.Val586=) c.1029G>C (p.Val343=) c.660G>C (p.Val220=) c.438G>C (p.Val146=) c.147G>C (p.Val49=) c.27-15089G>C (n.27-15089G>C) c.897G>C (p.Val299=) n.2780G>C | |
| 15 | g.100132102C>T | CA492384773 | ADAMTS17 | c.1626G>A (p.Val542=) n.1307G>A c.1758G>A (p.Val586=) c.1029G>A (p.Val343=) c.660G>A (p.Val220=) c.438G>A (p.Val146=) c.147G>A (p.Val49=) c.27-15089G>A (n.27-15089G>A) c.897G>A (p.Val299=) n.2780G>A | |
| 15 | g.100132103A= | CA2199864604 | ADAMTS17 | c.1625T= (p.Val542=) n.1306T= c.1757T= (p.Val586=) c.1028T= (p.Val343=) c.659T= (p.Val220=) c.437T= (p.Val146=) c.146T= (p.Val49=) c.27-15090T= (n.27-15090T=) c.896T= (p.Val299=) n.2779T= | |
| 15 | g.100132103A>C | CA393933683 | ADAMTS17 | c.1625T>G (p.Val542Gly) n.1306T>G c.1757T>G (p.Val586Gly) c.1028T>G (p.Val343Gly) c.659T>G (p.Val220Gly) c.437T>G (p.Val146Gly) c.146T>G (p.Val49Gly) c.27-15090T>G (n.27-15090T>G) c.896T>G (p.Val299Gly) n.2779T>G | |
| 15 | g.100132103A>G | CA393933684 | ADAMTS17 | c.1625T>C (p.Val542Ala) n.1306T>C c.1757T>C (p.Val586Ala) c.1028T>C (p.Val343Ala) c.659T>C (p.Val220Ala) c.437T>C (p.Val146Ala) c.146T>C (p.Val49Ala) c.27-15090T>C (n.27-15090T>C) c.896T>C (p.Val299Ala) n.2779T>C | gnomAD v4 |
| 15 | g.100132103A>T | CA393933685 | ADAMTS17 | c.1625T>A (p.Val542Glu) n.1306T>A c.1757T>A (p.Val586Glu) c.1028T>A (p.Val343Glu) c.659T>A (p.Val220Glu) c.437T>A (p.Val146Glu) c.146T>A (p.Val49Glu) c.27-15090T>A (n.27-15090T>A) c.896T>A (p.Val299Glu) n.2779T>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.100132104C>A | CA393933686 | ADAMTS17 | c.1624G>T (p.Val542Leu) n.1305G>T c.1756G>T (p.Val586Leu) c.1027G>T (p.Val343Leu) c.658G>T (p.Val220Leu) c.436G>T (p.Val146Leu) c.145G>T (p.Val49Leu) c.27-15091G>T (n.27-15091G>T) c.895G>T (p.Val299Leu) n.2778G>T | |
| 15 | g.100132104C>G | CA393933687 | ADAMTS17 | c.1624G>C (p.Val542Leu) n.1305G>C c.1756G>C (p.Val586Leu) c.1027G>C (p.Val343Leu) c.658G>C (p.Val220Leu) c.436G>C (p.Val146Leu) c.145G>C (p.Val49Leu) c.27-15091G>C (n.27-15091G>C) c.895G>C (p.Val299Leu) n.2778G>C | |
| 15 | g.100132104C>T | CA393933688 | ADAMTS17 | c.1624G>A (p.Val542Met) n.1305G>A c.1756G>A (p.Val586Met) c.1027G>A (p.Val343Met) c.658G>A (p.Val220Met) c.436G>A (p.Val146Met) c.145G>A (p.Val49Met) c.27-15091G>A (n.27-15091G>A) c.895G>A (p.Val299Met) n.2778G>A | |
| 15 | g.100132105A= | CA2199864606 | ADAMTS17 | c.1623T= (p.His541=) n.1304T= c.1755T= (p.His585=) c.1026T= (p.His342=) c.657T= (p.His219=) c.435T= (p.His145=) c.144T= (p.His48=) c.27-15092T= (n.27-15092T=) c.894T= (p.His298=) n.2777T= | |
| 15 | g.100132105A>C | CA393933689 | ADAMTS17 | c.1623T>G (p.His541Gln) n.1304T>G c.1755T>G (p.His585Gln) c.1026T>G (p.His342Gln) c.657T>G (p.His219Gln) c.435T>G (p.His145Gln) c.144T>G (p.His48Gln) c.27-15092T>G (n.27-15092T>G) c.894T>G (p.His298Gln) n.2777T>G | |
| 15 | g.100132105A>G | CA7758145 | ADAMTS17 | c.1623T>C (p.His541=) n.1304T>C c.1755T>C (p.His585=) c.1026T>C (p.His342=) c.657T>C (p.His219=) c.435T>C (p.His145=) c.144T>C (p.His48=) c.27-15092T>C (n.27-15092T>C) c.894T>C (p.His298=) n.2777T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132105A>T | CA393933690 | ADAMTS17 | c.1623T>A (p.His541Gln) n.1304T>A c.1755T>A (p.His585Gln) c.1026T>A (p.His342Gln) c.657T>A (p.His219Gln) c.435T>A (p.His145Gln) c.144T>A (p.His48Gln) c.27-15092T>A (n.27-15092T>A) c.894T>A (p.His298Gln) n.2777T>A | |
| 15 | g.100132106T>A | CA7758146 | ADAMTS17 | c.1622A>T (p.His541Leu) n.1303A>T c.1754A>T (p.His585Leu) c.1025A>T (p.His342Leu) c.656A>T (p.His219Leu) c.434A>T (p.His145Leu) c.143A>T (p.His48Leu) c.27-15093A>T (n.27-15093A>T) c.893A>T (p.His298Leu) n.2776A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.100132106T>C | CA393933692 | ADAMTS17 | c.1622A>G (p.His541Arg) n.1303A>G c.1754A>G (p.His585Arg) c.1025A>G (p.His342Arg) c.656A>G (p.His219Arg) c.434A>G (p.His145Arg) c.143A>G (p.His48Arg) c.27-15093A>G (n.27-15093A>G) c.893A>G (p.His298Arg) n.2776A>G | |
| 15 | g.100132106T>G | CA393933691 | ADAMTS17 | c.1622A>C (p.His541Pro) n.1303A>C c.1754A>C (p.His585Pro) c.1025A>C (p.His342Pro) c.656A>C (p.His219Pro) c.434A>C (p.His145Pro) c.143A>C (p.His48Pro) c.27-15093A>C (n.27-15093A>C) c.893A>C (p.His298Pro) n.2776A>C | gnomAD v4 |
| 15 | g.100132106T= | CA2199864609 | ADAMTS17 | c.1622A= (p.His541=) n.1303A= c.1754A= (p.His585=) c.1025A= (p.His342=) c.656A= (p.His219=) c.434A= (p.His145=) c.143A= (p.His48=) c.27-15093A= (n.27-15093A=) c.893A= (p.His298=) n.2776A= | |
| 15 | g.100132107G>A | CA393933693 | ADAMTS17 | c.1621C>T (p.His541Tyr) n.1302C>T c.1753C>T (p.His585Tyr) c.1024C>T (p.His342Tyr) c.655C>T (p.His219Tyr) c.433C>T (p.His145Tyr) c.142C>T (p.His48Tyr) c.27-15094C>T (n.27-15094C>T) c.892C>T (p.His298Tyr) n.2775C>T | gnomAD v4 |
| 15 | g.100132107G>C | CA393933694 | ADAMTS17 | c.1621C>G (p.His541Asp) n.1302C>G c.1753C>G (p.His585Asp) c.1024C>G (p.His342Asp) c.655C>G (p.His219Asp) c.433C>G (p.His145Asp) c.142C>G (p.His48Asp) c.27-15094C>G (n.27-15094C>G) c.892C>G (p.His298Asp) n.2775C>G | |
| 15 | g.100132107G>T | CA393933695 | ADAMTS17 | c.1621C>A (p.His541Asn) n.1302C>A c.1753C>A (p.His585Asn) c.1024C>A (p.His342Asn) c.655C>A (p.His219Asn) c.433C>A (p.His145Asn) c.142C>A (p.His48Asn) c.27-15094C>A (n.27-15094C>A) c.892C>A (p.His298Asn) n.2775C>A | |
| 15 | g.100132108C>A | CA393933696 | ADAMTS17 | c.1620G>T (p.Glu540Asp) n.1301G>T c.1752G>T (p.Glu584Asp) c.1023G>T (p.Glu341Asp) c.654G>T (p.Glu218Asp) c.432G>T (p.Glu144Asp) c.141G>T (p.Glu47Asp) c.27-15095G>T (n.27-15095G>T) c.891G>T (p.Glu297Asp) n.2774G>T | |
| 15 | g.100132108C>G | CA393933697 | ADAMTS17 | c.1620G>C (p.Glu540Asp) n.1301G>C c.1752G>C (p.Glu584Asp) c.1023G>C (p.Glu341Asp) c.654G>C (p.Glu218Asp) c.432G>C (p.Glu144Asp) c.141G>C (p.Glu47Asp) c.27-15095G>C (n.27-15095G>C) c.891G>C (p.Glu297Asp) n.2774G>C | |
| 15 | g.100132108C>T | CA492384774 | ADAMTS17 | c.1620G>A (p.Glu540=) n.1301G>A c.1752G>A (p.Glu584=) c.1023G>A (p.Glu341=) c.654G>A (p.Glu218=) c.432G>A (p.Glu144=) c.141G>A (p.Glu47=) c.27-15095G>A (n.27-15095G>A) c.891G>A (p.Glu297=) n.2774G>A | |
| 15 | g.100132109T>A | CA7758147 | ADAMTS17 | c.1619A>T (p.Glu540Val) n.1300A>T c.1751A>T (p.Glu584Val) c.1022A>T (p.Glu341Val) c.653A>T (p.Glu218Val) c.431A>T (p.Glu144Val) c.140A>T (p.Glu47Val) c.27-15096A>T (n.27-15096A>T) c.890A>T (p.Glu297Val) n.2773A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132109T>C | CA393933698 | ADAMTS17 | c.1619A>G (p.Glu540Gly) n.1300A>G c.1751A>G (p.Glu584Gly) c.1022A>G (p.Glu341Gly) c.653A>G (p.Glu218Gly) c.431A>G (p.Glu144Gly) c.140A>G (p.Glu47Gly) c.27-15096A>G (n.27-15096A>G) c.890A>G (p.Glu297Gly) n.2773A>G | gnomAD v4 |
| 15 | g.100132109T>G | CA393933699 | ADAMTS17 | c.1619A>C (p.Glu540Ala) n.1300A>C c.1751A>C (p.Glu584Ala) c.1022A>C (p.Glu341Ala) c.653A>C (p.Glu218Ala) c.431A>C (p.Glu144Ala) c.140A>C (p.Glu47Ala) c.27-15096A>C (n.27-15096A>C) c.890A>C (p.Glu297Ala) n.2773A>C | gnomAD v4 |
| 15 | g.100132109T= | CA2199864612 | ADAMTS17 | c.1619A= (p.Glu540=) n.1300A= c.1751A= (p.Glu584=) c.1022A= (p.Glu341=) c.653A= (p.Glu218=) c.431A= (p.Glu144=) c.140A= (p.Glu47=) c.27-15096A= (n.27-15096A=) c.890A= (p.Glu297=) n.2773A= | |
| 15 | g.100132110C>A | CA393933700 | ADAMTS17 | c.1618G>T (p.Glu540Ter) n.1299G>T c.1750G>T (p.Glu584Ter) c.1021G>T (p.Glu341Ter) c.652G>T (p.Glu218Ter) c.430G>T (p.Glu144Ter) c.139G>T (p.Glu47Ter) c.27-15097G>T (n.27-15097G>T) c.889G>T (p.Glu297Ter) n.2772G>T | |
| 15 | g.100132110C>G | CA393933701 | ADAMTS17 | c.1618G>C (p.Glu540Gln) n.1299G>C c.1750G>C (p.Glu584Gln) c.1021G>C (p.Glu341Gln) c.652G>C (p.Glu218Gln) c.430G>C (p.Glu144Gln) c.139G>C (p.Glu47Gln) c.27-15097G>C (n.27-15097G>C) c.889G>C (p.Glu297Gln) n.2772G>C | |
| 15 | g.100132110C>T | CA393933702 | ADAMTS17 | c.1618G>A (p.Glu540Lys) n.1299G>A c.1750G>A (p.Glu584Lys) c.1021G>A (p.Glu341Lys) c.652G>A (p.Glu218Lys) c.430G>A (p.Glu144Lys) c.139G>A (p.Glu47Lys) c.27-15097G>A (n.27-15097G>A) c.889G>A (p.Glu297Lys) n.2772G>A | |
| 15 | g.100132111C>A | CA7758148 | ADAMTS17 | c.1617G>T (p.Pro539=) n.1298G>T c.1749G>T (p.Pro583=) c.1020G>T (p.Pro340=) c.651G>T (p.Pro217=) c.429G>T (p.Pro143=) c.138G>T (p.Pro46=) c.27-15098G>T (n.27-15098G>T) c.888G>T (p.Pro296=) n.2771G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.100132111C= | CA2199864616 | ADAMTS17 | c.1617G= (p.Pro539=) n.1298G= c.1749G= (p.Pro583=) c.1020G= (p.Pro340=) c.651G= (p.Pro217=) c.429G= (p.Pro143=) c.138G= (p.Pro46=) c.27-15098G= (n.27-15098G=) c.888G= (p.Pro296=) n.2771G= | |
| 15 | g.100132111C>G | CA492384775 | ADAMTS17 | c.1617G>C (p.Pro539=) n.1298G>C c.1749G>C (p.Pro583=) c.1020G>C (p.Pro340=) c.651G>C (p.Pro217=) c.429G>C (p.Pro143=) c.138G>C (p.Pro46=) c.27-15098G>C (n.27-15098G>C) c.888G>C (p.Pro296=) n.2771G>C | |
| 15 | g.100132111C>T | CA7758149 | ADAMTS17 | c.1617G>A (p.Pro539=) n.1298G>A c.1749G>A (p.Pro583=) c.1020G>A (p.Pro340=) c.651G>A (p.Pro217=) c.429G>A (p.Pro143=) c.138G>A (p.Pro46=) c.27-15098G>A (n.27-15098G>A) c.888G>A (p.Pro296=) n.2771G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |