| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.131851456G>A | CA2831453966 | ENPP1 | c.556+189G>A (n.556+189G>A) c.234+189G>A c.108+1350G>A | |
| 6 | g.131851456G>C | CA147926709 | ENPP1 | c.556+189G>C (n.556+189G>C) c.234+189G>C c.108+1350G>C | dbSNP gnomAD v4 |
| 6 | g.131851456G= | CA1664253849 | ENPP1 | c.556+189G= (n.556+189G=) c.234+189G= c.108+1350G= | |
| 6 | g.131851456G>T | CA2680366434 | ENPP1 | c.556+189G>T (n.556+189G>T) c.234+189G>T c.108+1350G>T | gnomAD v4 |
| 6 | g.131851458A= | CA1664253850 | ENPP1 | c.556+191A= (n.556+191A=) c.234+191A= c.108+1352A= | |
| 6 | g.131851458A>C | CA1094555170 | ENPP1 | c.556+191A>C (n.556+191A>C) c.234+191A>C c.108+1352A>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851459C= | CA1664253851 | ENPP1 | c.556+192C= (n.556+192C=) c.234+192C= c.108+1353C= | |
| 6 | g.131851459C>T | CA1664253852 | ENPP1 | c.556+192C>T (n.556+192C>T) c.234+192C>T c.108+1353C>T | dbSNP |
| 6 | g.131851460A= | CA1664253853 | ENPP1 | c.556+193A= (n.556+193A=) c.234+193A= c.108+1354A= | |
| 6 | g.131851460A>G | CA147926724 | ENPP1 | c.556+193A>G (n.556+193A>G) c.234+193A>G c.108+1354A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851461T>A | CA2773093500 | ENPP1 | c.556+194T>A (n.556+194T>A) c.234+194T>A c.108+1355T>A | |
| 6 | g.131851464T>A | CA2680366435 | ENPP1 | c.556+197T>A (n.556+197T>A) c.234+197T>A c.108+1358T>A | gnomAD v4 |
| 6 | g.131851464T>C | CA147926727 | ENPP1 | c.556+197T>C (n.556+197T>C) c.234+197T>C c.108+1358T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851464T= | CA1664253854 | ENPP1 | c.556+197T= (n.556+197T=) c.234+197T= c.108+1358T= | |
| 6 | g.131851466C>A | CA2680366436 | ENPP1 | c.556+199C>A (n.556+199C>A) c.234+199C>A c.108+1360C>A | gnomAD v4 |
| 6 | g.131851466C= | CA1664253855 | ENPP1 | c.556+199C= (n.556+199C=) c.234+199C= c.108+1360C= | |
| 6 | g.131851466C>T | CA147926742 | ENPP1 | c.556+199C>T (n.556+199C>T) c.234+199C>T c.108+1360C>T | dbSNP gnomAD v4 |
| 6 | g.131851467C>A | CA2680366437 | ENPP1 | c.556+200C>A (n.556+200C>A) c.234+200C>A c.108+1361C>A | gnomAD v4 |
| 6 | g.131851468C>A | CA2680366438 | ENPP1 | c.556+201C>A (n.556+201C>A) c.234+201C>A c.108+1362C>A | gnomAD v4 |
| 6 | g.131851468C= | CA1664253856 | ENPP1 | c.556+201C= (n.556+201C=) c.234+201C= c.108+1362C= | |
| 6 | g.131851468C>T | CA819062011 | ENPP1 | c.556+201C>T (n.556+201C>T) c.234+201C>T c.108+1362C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851469A>G | CA2680366439 | ENPP1 | c.556+202A>G (n.556+202A>G) c.234+202A>G c.108+1363A>G | gnomAD v4 |
| 6 | g.131851469A>T | CA2680366440 | ENPP1 | c.556+202A>T (n.556+202A>T) c.234+202A>T c.108+1363A>T | gnomAD v4 |
| 6 | g.131851470_131851477delinsTCACCCAG | CA1664253857 | ENPP1 | c.556+203_556+210delinsTCACCCAG (n.556+203_556+210delinsTCACCCAG) c.234+203_234+210delinsTCACCCAG c.108+1364_108+1371delinsTCACCCAG | |
| 6 | g.131851471C>A | CA147926746 | ENPP1 | c.556+204C>A (n.556+204C>A) c.234+204C>A c.108+1365C>A | dbSNP |
| 6 | g.131851471C= | CA1664253858 | ENPP1 | c.556+204C= (n.556+204C=) c.234+204C= c.108+1365C= | |
| 6 | g.131851471C>T | CA2680366441 | ENPP1 | c.556+204C>T (n.556+204C>T) c.234+204C>T c.108+1365C>T | gnomAD v4 |
| 6 | g.131851472_131851478del | CA570097336 | ENPP1 | c.556+205_556+211del (n.556+205_556+211del) c.234+205_234+211del c.108+1366_108+1372del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851473C>A | CA2680366442 | ENPP1 | c.556+206C>A (n.556+206C>A) c.234+206C>A c.108+1367C>A | gnomAD v4 |
| 6 | g.131851473C= | CA1664253859 | ENPP1 | c.556+206C= (n.556+206C=) c.234+206C= c.108+1367C= | |
| 6 | g.131851473C>G | CA147926748 | ENPP1 | c.556+206C>G (n.556+206C>G) c.234+206C>G c.108+1367C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851473C>T | CA147926749 | ENPP1 | c.556+206C>T (n.556+206C>T) c.234+206C>T c.108+1367C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851474C>A | CA2680366443 | ENPP1 | c.556+207C>A (n.556+207C>A) c.234+207C>A c.108+1368C>A | gnomAD v4 |
| 6 | g.131851475C>A | CA2713037986 | ENPP1 | c.556+208C>A (n.556+208C>A) c.234+208C>A c.108+1369C>A | dbSNP |
| 6 | g.131851475C>G | CA2680366444 | ENPP1 | c.556+208C>G (n.556+208C>G) c.234+208C>G c.108+1369C>G | gnomAD v4 |
| 6 | g.131851476A>G | CA2680366445 | ENPP1 | c.556+209A>G (n.556+209A>G) c.234+209A>G c.108+1370A>G | gnomAD v4 |
| 6 | g.131851477G>A | CA2773093504 | ENPP1 | c.556+210G>A (n.556+210G>A) c.234+210G>A c.108+1371G>A | |
| 6 | g.131851477G>T | CA2680366446 | ENPP1 | c.556+210G>T (n.556+210G>T) c.234+210G>T c.108+1371G>T | gnomAD v4 |
| 6 | g.131851478C>A | CA2680366447 | ENPP1 | c.556+211C>A (n.556+211C>A) c.234+211C>A c.108+1372C>A | gnomAD v4 |
| 6 | g.131851480T>G | CA819062033 | ENPP1 | c.556+213T>G (n.556+213T>G) c.234+213T>G c.108+1374T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851480T= | CA1664253860 | ENPP1 | c.556+213T= (n.556+213T=) c.234+213T= c.108+1374T= | |
| 6 | g.131851481_131851486dup | CA2680366448 | ENPP1 | c.556+214_556+219dup (n.556+214_556+219dup) c.234+214_234+219dup c.108+1375_108+1380dup | gnomAD v4 |
| 6 | g.131851481C>T | CA2680366449 | ENPP1 | c.556+214C>T (n.556+214C>T) c.234+214C>T c.108+1375C>T | gnomAD v4 |
| 6 | g.131851482A= | CA1664253861 | ENPP1 | c.556+215A= (n.556+215A=) c.234+215A= c.108+1376A= | |
| 6 | g.131851482A>G | CA147926757 | ENPP1 | c.556+215A>G (n.556+215A>G) c.234+215A>G c.108+1376A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851483T>G | CA2680366450 | ENPP1 | c.556+216T>G (n.556+216T>G) c.234+216T>G c.108+1377T>G | gnomAD v4 |
| 6 | g.131851487T>C | CA2680366451 | ENPP1 | c.556+220T>C (n.556+220T>C) c.234+220T>C c.108+1381T>C | gnomAD v4 |
| 6 | g.131851488A>G | CA2680366452 | ENPP1 | c.556+221A>G (n.556+221A>G) c.234+221A>G c.108+1382A>G | gnomAD v4 |
| 6 | g.131851489T>C | CA2680366453 | ENPP1 | c.556+222T>C (n.556+222T>C) c.234+222T>C c.108+1383T>C | gnomAD v4 |
| 6 | g.131851490G>A | CA2680366454 | ENPP1 | c.556+223G>A (n.556+223G>A) c.234+223G>A c.108+1384G>A | gnomAD v4 |
| 6 | g.131851490G= | CA1664253862 | ENPP1 | c.556+223G= (n.556+223G=) c.234+223G= c.108+1384G= | |
| 6 | g.131851490G>T | CA819062036 | ENPP1 | c.556+223G>T (n.556+223G>T) c.234+223G>T c.108+1384G>T | dbSNP gnomAD v4 |
| 6 | g.131851492T>C | CA1664253864 | ENPP1 | c.556+225T>C (n.556+225T>C) c.234+225T>C c.108+1386T>C | dbSNP |
| 6 | g.131851492T= | CA1664253863 | ENPP1 | c.556+225T= (n.556+225T=) c.234+225T= c.108+1386T= | |
| 6 | g.131851493T>C | CA2680366455 | ENPP1 | c.556+226T>C (n.556+226T>C) c.234+226T>C c.108+1387T>C | gnomAD v4 |
| 6 | g.131851494A= | CA1664253865 | ENPP1 | c.556+227A= (n.556+227A=) c.234+227A= c.108+1388A= | |
| 6 | g.131851494A>G | CA1664253866 | ENPP1 | c.556+227A>G (n.556+227A>G) c.234+227A>G c.108+1388A>G | dbSNP gnomAD v4 |
| 6 | g.131851496G>T | CA2713038023 | ENPP1 | c.556+229G>T (n.556+229G>T) c.234+229G>T c.108+1390G>T | dbSNP |
| 6 | g.131851496_131851497insAAG | CA2680366456 | ENPP1 | c.556+229_556+230insAAG (n.556+229_556+230insAAG) c.234+229_234+230insAAG c.108+1390_108+1391insAAG | gnomAD v4 |
| 6 | g.131851497T>C | CA2680366457 | ENPP1 | c.556+230T>C (n.556+230T>C) c.234+230T>C c.108+1391T>C | gnomAD v4 |
| 6 | g.131851498G>A | CA147926764 | ENPP1 | c.556+231G>A (n.556+231G>A) c.234+231G>A c.108+1392G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851498G>C | CA2680366458 | ENPP1 | c.556+231G>C (n.556+231G>C) c.234+231G>C c.108+1392G>C | gnomAD v4 |
| 6 | g.131851498G= | CA1664253867 | ENPP1 | c.556+231G= (n.556+231G=) c.234+231G= c.108+1392G= | |
| 6 | g.131851499C>A | CA2680366459 | ENPP1 | c.556+232C>A (n.556+232C>A) c.234+232C>A c.108+1393C>A | gnomAD v4 |
| 6 | g.131851500A>C | CA2680366460 | ENPP1 | c.556+233A>C (n.556+233A>C) c.234+233A>C c.108+1394A>C | gnomAD v4 |
| 6 | g.131851501C>A | CA2680366461 | ENPP1 | c.556+234C>A (n.556+234C>A) c.234+234C>A c.108+1395C>A | gnomAD v4 |
| 6 | g.131851503C>A | CA2680366462 | ENPP1 | c.556+236C>A (n.556+236C>A) c.234+236C>A c.108+1397C>A | gnomAD v4 |
| 6 | g.131851503C= | CA1664253868 | ENPP1 | c.556+236C= (n.556+236C=) c.234+236C= c.108+1397C= | |
| 6 | g.131851503C>T | CA147926773 | ENPP1 | c.556+236C>T (n.556+236C>T) c.234+236C>T c.108+1397C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851504G>A | CA819062041 | ENPP1 | c.556+237G>A (n.556+237G>A) c.234+237G>A c.108+1398G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851504G= | CA1664253869 | ENPP1 | c.556+237G= (n.556+237G=) c.234+237G= c.108+1398G= | |
| 6 | g.131851504G>T | CA2680366463 | ENPP1 | c.556+237G>T (n.556+237G>T) c.234+237G>T c.108+1398G>T | gnomAD v4 |
| 6 | g.131851505G>A | CA2680366464 | ENPP1 | c.556+238G>A (n.556+238G>A) c.234+238G>A c.108+1399G>A | gnomAD v4 |
| 6 | g.131851506C>A | CA2680366465 | ENPP1 | c.556+239C>A (n.556+239C>A) c.234+239C>A c.108+1400C>A | gnomAD v4 |
| 6 | g.131851507C>A | CA2680366466 | ENPP1 | c.556+240C>A (n.556+240C>A) c.234+240C>A c.108+1401C>A | gnomAD v4 |
| 6 | g.131851509A>G | CA2680366467 | ENPP1 | c.556+242A>G (n.556+242A>G) c.234+242A>G c.108+1403A>G | gnomAD v4 |
| 6 | g.131851511A= | CA1664253870 | ENPP1 | c.556+244A= (n.556+244A=) c.234+244A= c.108+1405A= | |
| 6 | g.131851511A>C | CA2712826798 | ENPP1 | c.556+244A>C (n.556+244A>C) c.234+244A>C c.108+1405A>C | dbSNP |
| 6 | g.131851511A>G | CA570097338 | ENPP1 | c.556+244A>G (n.556+244A>G) c.234+244A>G c.108+1405A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851512A>G | CA2680366468 | ENPP1 | c.556+245A>G (n.556+245A>G) c.234+245A>G c.108+1406A>G | gnomAD v4 |
| 6 | g.131851518del | CA2680366469 | ENPP1 | c.556+251del (n.556+251del) c.234+251del c.108+1412del | gnomAD v4 |
| 6 | g.131851520T>C | CA2680366470 | ENPP1 | c.556+253T>C (n.556+253T>C) c.234+253T>C c.108+1414T>C | gnomAD v4 |
| 6 | g.131851521C>A | CA2680366471 | ENPP1 | c.556+254C>A (n.556+254C>A) c.234+254C>A c.108+1415C>A | gnomAD v4 |
| 6 | g.131851521C>T | CA2680366472 | ENPP1 | c.556+254C>T (n.556+254C>T) c.234+254C>T c.108+1415C>T | gnomAD v4 |
| 6 | g.131851523A= | CA1664253871 | ENPP1 | c.556+256A= (n.556+256A=) c.234+256A= c.108+1417A= | |
| 6 | g.131851523A>G | CA1664253872 | ENPP1 | c.556+256A>G (n.556+256A>G) c.234+256A>G c.108+1417A>G | dbSNP |
| 6 | g.131851526A= | CA1664253873 | ENPP1 | c.556+259A= (n.556+259A=) c.234+259A= c.108+1420A= | |
| 6 | g.131851526A>G | CA1094555187 | ENPP1 | c.556+259A>G (n.556+259A>G) c.234+259A>G c.108+1420A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851527C>A | CA1664253875 | ENPP1 | c.556+260C>A (n.556+260C>A) c.234+260C>A c.108+1421C>A | dbSNP |
| 6 | g.131851527C= | CA1664253874 | ENPP1 | c.556+260C= (n.556+260C=) c.234+260C= c.108+1421C= | |
| 6 | g.131851528C>A | CA2680366473 | ENPP1 | c.556+261C>A (n.556+261C>A) c.234+261C>A c.108+1422C>A | gnomAD v4 |
| 6 | g.131851528C= | CA1664253876 | ENPP1 | c.556+261C= (n.556+261C=) c.234+261C= c.108+1422C= | |
| 6 | g.131851528C>G | CA651158072 | ENPP1 | c.556+261C>G (n.556+261C>G) c.234+261C>G c.108+1422C>G | COSMIC |
| 6 | g.131851528C>T | CA819062047 | ENPP1 | c.556+261C>T (n.556+261C>T) c.234+261C>T c.108+1422C>T | dbSNP |
| 6 | g.131851532C>A | CA2680366474 | ENPP1 | c.556+265C>A (n.556+265C>A) c.234+265C>A c.108+1426C>A | gnomAD v4 |
| 6 | g.131851534T>G | CA2680366475 | ENPP1 | c.556+267T>G (n.556+267T>G) c.234+267T>G c.108+1428T>G | gnomAD v4 |
| 6 | g.131851535T>C | CA2680366476 | ENPP1 | c.556+268T>C (n.556+268T>C) c.234+268T>C c.108+1429T>C | gnomAD v4 |
| 6 | g.131851536C>A | CA2559953362 | ENPP1 | c.556+269C>A (n.556+269C>A) c.234+269C>A c.108+1430C>A | gnomAD v4 |
| 6 | g.131851536C= | CA1664253877 | ENPP1 | c.556+269C= (n.556+269C=) c.234+269C= c.108+1430C= | |
| 6 | g.131851536C>T | CA1664253878 | ENPP1 | c.556+269C>T (n.556+269C>T) c.234+269C>T c.108+1430C>T | dbSNP |
| 6 | g.131851539dup | CA2680366477 | ENPP1 | c.556+272dup (n.556+272dup) c.234+272dup c.108+1433dup | gnomAD v4 |
| 6 | g.131851539del | CA2680366478 | ENPP1 | c.556+272del (n.556+272del) c.234+272del c.108+1433del | gnomAD v4 |
| 6 | g.131851537C>A | CA12377688 | ENPP1 | c.556+270C>A (n.556+270C>A) c.234+270C>A c.108+1431C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851537C= | CA1664253880 | ENPP1 | c.556+270C= (n.556+270C=) c.234+270C= c.108+1431C= | |
| 6 | g.131851537C>G | CA2680366479 | ENPP1 | c.556+270C>G (n.556+270C>G) c.234+270C>G c.108+1431C>G | gnomAD v4 |
| 6 | g.131851537C>T | CA1664253879 | ENPP1 | c.556+270C>T (n.556+270C>T) c.234+270C>T c.108+1431C>T | dbSNP |
| 6 | g.131851538C>A | CA2680366480 | ENPP1 | c.556+271C>A (n.556+271C>A) c.234+271C>A c.108+1432C>A | gnomAD v4 |
| 6 | g.131851538C= | CA1664253881 | ENPP1 | c.556+271C= (n.556+271C=) c.234+271C= c.108+1432C= | |
| 6 | g.131851538C>T | CA1664253882 | ENPP1 | c.556+271C>T (n.556+271C>T) c.234+271C>T c.108+1432C>T | dbSNP gnomAD v4 |
| 6 | g.131851539C= | CA1664253883 | ENPP1 | c.556+272C= (n.556+272C=) c.234+272C= c.108+1433C= | |
| 6 | g.131851539C>G | CA1664253884 | ENPP1 | c.556+272C>G (n.556+272C>G) c.234+272C>G c.108+1433C>G | dbSNP |
| 6 | g.131851539C>T | CA1664253885 | ENPP1 | c.556+272C>T (n.556+272C>T) c.234+272C>T c.108+1433C>T | dbSNP gnomAD v4 |
| 6 | g.131851541G= | CA1664253886 | ENPP1 | c.556+274G= (n.556+274G=) c.234+274G= c.108+1435G= | |
| 6 | g.131851541G>T | CA570097340 | ENPP1 | c.556+274G>T (n.556+274G>T) c.234+274G>T c.108+1435G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851542C>T | CA2680366481 | ENPP1 | c.556+275C>T (n.556+275C>T) c.234+275C>T c.108+1436C>T | gnomAD v4 |
| 6 | g.131851543C>A | CA2680366482 | ENPP1 | c.556+276C>A (n.556+276C>A) c.234+276C>A c.108+1437C>A | gnomAD v4 |
| 6 | g.131851544A>G | CA2680366483 | ENPP1 | c.556+277A>G (n.556+277A>G) c.234+277A>G c.108+1438A>G | gnomAD v4 |
| 6 | g.131851544A>T | CA2680366484 | ENPP1 | c.556+277A>T (n.556+277A>T) c.234+277A>T c.108+1438A>T | gnomAD v4 |
| 6 | g.131851546C>A | CA2680366485 | ENPP1 | c.556+279C>A (n.556+279C>A) c.234+279C>A c.108+1440C>A | gnomAD v4 |
| 6 | g.131851546C= | CA1664253887 | ENPP1 | c.556+279C= (n.556+279C=) c.234+279C= c.108+1440C= | |
| 6 | g.131851546C>T | CA2680366486 | ENPP1 | c.556+279C>T (n.556+279C>T) c.234+279C>T c.108+1440C>T | gnomAD v4 |
| 6 | g.131851547A>C | CA2680366487 | ENPP1 | c.556+280A>C (n.556+280A>C) c.234+280A>C c.108+1441A>C | gnomAD v4 |
| 6 | g.131851547dup | CA570097342 | ENPP1 | c.556+280dup (n.556+280dup) c.234+280dup c.108+1441dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.131851550C>A | CA2680366488 | ENPP1 | c.556+283C>A (n.556+283C>A) c.234+283C>A c.108+1444C>A | gnomAD v4 |
| 6 | g.131851550C= | CA1664253888 | ENPP1 | c.556+283C= (n.556+283C=) c.234+283C= c.108+1444C= | |
| 6 | g.131851550C>G | CA2680366489 | ENPP1 | c.556+283C>G (n.556+283C>G) c.234+283C>G c.108+1444C>G | gnomAD v4 |
| 6 | g.131851550C>T | CA819062053 | ENPP1 | c.556+283C>T (n.556+283C>T) c.234+283C>T c.108+1444C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.131851551T>C | CA2680366490 | ENPP1 | c.556+284T>C (n.556+284T>C) c.234+284T>C c.108+1445T>C | gnomAD v4 |
| 6 | g.131851552C= | CA1664253889 | ENPP1 | c.556+285C= (n.556+285C=) c.234+285C= c.108+1446C= | |
| 6 | g.131851552C>T | CA1664253890 | ENPP1 | c.556+285C>T (n.556+285C>T) c.234+285C>T c.108+1446C>T | dbSNP gnomAD v4 |
| 6 | g.131851554C>A | CA2680366491 | ENPP1 | c.556+287C>A (n.556+287C>A) c.234+287C>A c.108+1448C>A | gnomAD v4 |
| 6 | g.131851554C>T | CA2680366492 | ENPP1 | c.556+287C>T (n.556+287C>T) c.234+287C>T c.108+1448C>T | gnomAD v4 |
| 6 | g.131851555A>C | CA2680366493 | ENPP1 | c.556+288A>C (n.556+288A>C) c.234+288A>C c.108+1449A>C | gnomAD v4 |
| 6 | g.131851556T>G | CA2773093506 | ENPP1 | c.556+289T>G (n.556+289T>G) c.234+289T>G c.108+1450T>G |