| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.4932921_4932929del | CA2695224142 | CHRNE,GP1BA | c.317_325del (p.Gln106_Leu108del) c.-888+1417_-888+1425del (n.-888+1417_-888+1425del) | |
| 17 | g.4932928G>A | CA8314741 | CHRNE,GP1BA | c.324G>A (p.Leu108=) c.-888+1414C>T (n.-888+1414C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932928G>C | CA497677625 | CHRNE,GP1BA | c.324G>C (p.Leu108=) c.-888+1414C>G (n.-888+1414C>G) | |
| 17 | g.4932928G= | CA2244625363 | CHRNE,GP1BA | c.324G= (p.Leu108=) c.-888+1414C= (n.-888+1414C=) | |
| 17 | g.4932928G>T | CA497677627 | CHRNE,GP1BA | c.324G>T (p.Leu108=) c.-888+1414C>A (n.-888+1414C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932929C>A | CA397315868 | CHRNE,GP1BA | c.325C>A (p.Pro109Thr) c.-888+1413G>T (n.-888+1413G>T) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4932929C>G | CA397315873 | CHRNE,GP1BA | c.325C>G (p.Pro109Ala) c.-888+1413G>C (n.-888+1413G>C) | |
| 17 | g.4932929C>T | CA397315878 | CHRNE,GP1BA | c.325C>T (p.Pro109Ser) c.-888+1413G>A (n.-888+1413G>A) | |
| 17 | g.4932930C>A | CA397315888 | CHRNE,GP1BA | c.326C>A (p.Pro109His) c.-888+1412G>T (n.-888+1412G>T) | |
| 17 | g.4932930C>G | CA397315890 | CHRNE,GP1BA | c.326C>G (p.Pro109Arg) c.-888+1412G>C (n.-888+1412G>C) | |
| 17 | g.4932930C>T | CA397315892 | CHRNE,GP1BA | c.326C>T (p.Pro109Leu) c.-888+1412G>A (n.-888+1412G>A) | COSMIC |
| 17 | g.4932931_4932935del | CA2635578683 | CHRNE,GP1BA | c.327_331del (p.Leu110ArgfsTer?) c.-888+1408_-888+1412del (n.-888+1408_-888+1412del) | gnomAD v4 |
| 17 | g.4932931C>A | CA497677632 | CHRNE,GP1BA | c.327C>A (p.Pro109=) c.-888+1411G>T (n.-888+1411G>T) | |
| 17 | g.4932931C>G | CA497677634 | CHRNE,GP1BA | c.327C>G (p.Pro109=) c.-888+1411G>C (n.-888+1411G>C) | |
| 17 | g.4932931C>T | CA497677635 | CHRNE,GP1BA | c.327C>T (p.Pro109=) c.-888+1411G>A (n.-888+1411G>A) | dbSNP |
| 17 | g.4932932T>A | CA397315895 | CHRNE,GP1BA | c.328T>A (p.Leu110Met) c.-888+1410A>T (n.-888+1410A>T) | |
| 17 | g.4932932T>C | CA497677637 | CHRNE,GP1BA | c.328T>C (p.Leu110=) c.-888+1410A>G (n.-888+1410A>G) | |
| 17 | g.4932932T>G | CA397315898 | CHRNE,GP1BA | c.328T>G (p.Leu110Val) c.-888+1410A>C (n.-888+1410A>C) | |
| 17 | g.4932933T>A | CA397315917 | CHRNE,GP1BA | c.329T>A (p.Leu110Ter) c.-888+1409A>T (n.-888+1409A>T) | gnomAD v4 |
| 17 | g.4932933T>C | CA397315925 | CHRNE,GP1BA | c.329T>C (p.Leu110Ser) c.-888+1409A>G (n.-888+1409A>G) | |
| 17 | g.4932933T>G | CA397315915 | CHRNE,GP1BA | c.329T>G (p.Leu110Trp) c.-888+1409A>C (n.-888+1409A>C) | |
| 17 | g.4932934G>A | CA8314742 | CHRNE,GP1BA | c.330G>A (p.Leu110=) c.-888+1408C>T (n.-888+1408C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932934G>C | CA397315931 | CHRNE,GP1BA | c.330G>C (p.Leu110Phe) c.-888+1408C>G (n.-888+1408C>G) | gnomAD v4 |
| 17 | g.4932934G= | CA2244625364 | CHRNE,GP1BA | c.330G= (p.Leu110=) c.-888+1408C= (n.-888+1408C=) | |
| 17 | g.4932934G>T | CA397315929 | CHRNE,GP1BA | c.330G>T (p.Leu110Phe) c.-888+1408C>A (n.-888+1408C>A) | |
| 17 | g.4932935C>A | CA397315933 | CHRNE,GP1BA | c.331C>A (p.Leu111Ile) c.-888+1407G>T (n.-888+1407G>T) | |
| 17 | g.4932935C= | CA2244625365 | CHRNE,GP1BA | c.331C= (p.Leu111=) c.-888+1407G= (n.-888+1407G=) | |
| 17 | g.4932935C>G | CA8314743 | CHRNE,GP1BA | c.331C>G (p.Leu111Val) c.-888+1407G>C (n.-888+1407G>C) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932935C>T | CA497677639 | CHRNE,GP1BA | c.331C>T (p.Leu111=) c.-888+1407G>A (n.-888+1407G>A) | |
| 17 | g.4932936T>A | CA397315938 | CHRNE,GP1BA | c.332T>A (p.Leu111Gln) c.-888+1406A>T (n.-888+1406A>T) | gnomAD v4 |
| 17 | g.4932936T>C | CA397315947 | CHRNE,GP1BA | c.332T>C (p.Leu111Pro) c.-888+1406A>G (n.-888+1406A>G) | |
| 17 | g.4932936T>G | CA397315941 | CHRNE,GP1BA | c.332T>G (p.Leu111Arg) c.-888+1406A>C (n.-888+1406A>C) | |
| 17 | g.4932937A>C | CA497677641 | CHRNE,GP1BA | c.333A>C (p.Leu111=) c.-888+1405T>G (n.-888+1405T>G) | |
| 17 | g.4932937A>G | CA497677643 | CHRNE,GP1BA | c.333A>G (p.Leu111=) c.-888+1405T>C (n.-888+1405T>C) | |
| 17 | g.4932937A>T | CA497677645 | CHRNE,GP1BA | c.333A>T (p.Leu111=) c.-888+1405T>A (n.-888+1405T>A) | |
| 17 | g.4932938G>A | CA8314744 | CHRNE,GP1BA | c.334G>A (p.Gly112Arg) c.-888+1404C>T (n.-888+1404C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932938G>C | CA8314745 | CHRNE,GP1BA | c.334G>C (p.Gly112Arg) c.-888+1404C>G (n.-888+1404C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932938G= | CA2244625366 | CHRNE,GP1BA | c.334G= (p.Gly112=) c.-888+1404C= (n.-888+1404C=) | |
| 17 | g.4932938G>T | CA397315953 | CHRNE,GP1BA | c.334G>T (p.Gly112Trp) c.-888+1404C>A (n.-888+1404C>A) | |
| 17 | g.4932939_4932940del | CA2635578684 | CHRNE,GP1BA | c.335_336del (p.Gly112AlafsTer?) c.-888+1403_-888+1404del (n.-888+1403_-888+1404del) | gnomAD v4 |
| 17 | g.4932939G>A | CA397315958 | CHRNE,GP1BA | c.335G>A (p.Gly112Glu) c.-888+1403C>T (n.-888+1403C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4932939G>C | CA397315961 | CHRNE,GP1BA | c.335G>C (p.Gly112Ala) c.-888+1403C>G (n.-888+1403C>G) | |
| 17 | g.4932939G= | CA2244625367 | CHRNE,GP1BA | c.335G= (p.Gly112=) c.-888+1403C= (n.-888+1403C=) | |
| 17 | g.4932939G>T | CA397315963 | CHRNE,GP1BA | c.335G>T (p.Gly112Val) c.-888+1403C>A (n.-888+1403C>A) | |
| 17 | g.4932940G>A | CA497677648 | CHRNE,GP1BA | c.336G>A (p.Gly112=) c.-888+1402C>T (n.-888+1402C>T) | COSMIC |
| 17 | g.4932940G>C | CA497677649 | CHRNE,GP1BA | c.336G>C (p.Gly112=) c.-888+1402C>G (n.-888+1402C>G) | |
| 17 | g.4932940G= | CA2244625368 | CHRNE,GP1BA | c.336G= (p.Gly112=) c.-888+1402C= (n.-888+1402C=) | |
| 17 | g.4932940G>T | CA8314746 | CHRNE,GP1BA | c.336G>T (p.Gly112=) c.-888+1402C>A (n.-888+1402C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932941C>A | CA397315968 | CHRNE,GP1BA | c.337C>A (p.Gln113Lys) c.-888+1401G>T (n.-888+1401G>T) | |
| 17 | g.4932941C= | CA2244625369 | CHRNE,GP1BA | c.337C= (p.Gln113=) c.-888+1401G= (n.-888+1401G=) | |
| 17 | g.4932941C>G | CA397315970 | CHRNE,GP1BA | c.337C>G (p.Gln113Glu) c.-888+1401G>C (n.-888+1401G>C) | |
| 17 | g.4932941C>T | CA8314747 | CHRNE,GP1BA | c.337C>T (p.Gln113Ter) c.-888+1401G>A (n.-888+1401G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932942A>C | CA397315987 | CHRNE,GP1BA | c.338A>C (p.Gln113Pro) c.-888+1400T>G (n.-888+1400T>G) | |
| 17 | g.4932942A>G | CA397315975 | CHRNE,GP1BA | c.338A>G (p.Gln113Arg) c.-888+1400T>C (n.-888+1400T>C) | |
| 17 | g.4932942A>T | CA397315982 | CHRNE,GP1BA | c.338A>T (p.Gln113Leu) c.-888+1400T>A (n.-888+1400T>A) | |
| 17 | g.4932943G>A | CA497677651 | CHRNE,GP1BA | c.339G>A (p.Gln113=) c.-888+1399C>T (n.-888+1399C>T) | |
| 17 | g.4932943G>C | CA397315989 | CHRNE,GP1BA | c.339G>C (p.Gln113His) c.-888+1399C>G (n.-888+1399C>G) | |
| 17 | g.4932943G>T | CA397315992 | CHRNE,GP1BA | c.339G>T (p.Gln113His) c.-888+1399C>A (n.-888+1399C>A) | |
| 17 | g.4932943_4932944insGA | CA2695224143 | CHRNE,GP1BA | c.339_340insGA (p.Thr114GlufsTer16) c.-888+1398_-888+1399insTC (n.-888+1398_-888+1399insTC) | |
| 17 | g.4932944A>C | CA397315996 | CHRNE,GP1BA | c.340A>C (p.Thr114Pro) c.-888+1398T>G (n.-888+1398T>G) | |
| 17 | g.4932944A>G | CA397315999 | CHRNE,GP1BA | c.340A>G (p.Thr114Ala) c.-888+1398T>C (n.-888+1398T>C) | gnomAD v4 |
| 17 | g.4932944A>T | CA397316001 | CHRNE,GP1BA | c.340A>T (p.Thr114Ser) c.-888+1398T>A (n.-888+1398T>A) | |
| 17 | g.4932945C>A | CA397316005 | CHRNE,GP1BA | c.341C>A (p.Thr114Lys) c.-888+1397G>T (n.-888+1397G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932945C= | CA2244625370 | CHRNE,GP1BA | c.341C= (p.Thr114=) c.-888+1397G= (n.-888+1397G=) | |
| 17 | g.4932945C>G | CA397316008 | CHRNE,GP1BA | c.341C>G (p.Thr114Arg) c.-888+1397G>C (n.-888+1397G>C) | |
| 17 | g.4932945C>T | CA8314748 | CHRNE,GP1BA | c.341C>T (p.Thr114Ile) c.-888+1397G>A (n.-888+1397G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932946A>C | CA497677656 | CHRNE,GP1BA | c.342A>C (p.Thr114=) c.-888+1396T>G (n.-888+1396T>G) | |
| 17 | g.4932946A>G | CA497677654 | CHRNE,GP1BA | c.342A>G (p.Thr114=) c.-888+1396T>C (n.-888+1396T>C) | gnomAD v4 |
| 17 | g.4932946A>T | CA497677653 | CHRNE,GP1BA | c.342A>T (p.Thr114=) c.-888+1396T>A (n.-888+1396T>A) | |
| 17 | g.4932947C>A | CA397316014 | CHRNE,GP1BA | c.343C>A (p.Leu115Met) c.-888+1395G>T (n.-888+1395G>T) | |
| 17 | g.4932947C>G | CA397316018 | CHRNE,GP1BA | c.343C>G (p.Leu115Val) c.-888+1395G>C (n.-888+1395G>C) | gnomAD v4 |
| 17 | g.4932947C>T | CA497677658 | CHRNE,GP1BA | c.343C>T (p.Leu115=) c.-888+1395G>A (n.-888+1395G>A) | |
| 17 | g.4932948T>A | CA397316031 | CHRNE,GP1BA | c.344T>A (p.Leu115Gln) c.-888+1394A>T (n.-888+1394A>T) | |
| 17 | g.4932948T>C | CA397316035 | CHRNE,GP1BA | c.344T>C (p.Leu115Pro) c.-888+1394A>G (n.-888+1394A>G) | ClinVar dbSNP |
| 17 | g.4932948T>G | CA397316030 | CHRNE,GP1BA | c.344T>G (p.Leu115Arg) c.-888+1394A>C (n.-888+1394A>C) | |
| 17 | g.4932948T= | CA2244625371 | CHRNE,GP1BA | c.344T= (p.Leu115=) c.-888+1394A= (n.-888+1394A=) | |
| 17 | g.4932949G>A | CA497677662 | CHRNE,GP1BA | c.345G>A (p.Leu115=) c.-888+1393C>T (n.-888+1393C>T) | |
| 17 | g.4932949G>C | CA497677660 | CHRNE,GP1BA | c.345G>C (p.Leu115=) c.-888+1393C>G (n.-888+1393C>G) | |
| 17 | g.4932949G>T | CA497677659 | CHRNE,GP1BA | c.345G>T (p.Leu115=) c.-888+1393C>A (n.-888+1393C>A) | |
| 17 | g.4932950C>A | CA8314749 | CHRNE,GP1BA | c.346C>A (p.Pro116Thr) c.-888+1392G>T (n.-888+1392G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932950C= | CA2244625372 | CHRNE,GP1BA | c.346C= (p.Pro116=) c.-888+1392G= (n.-888+1392G=) | |
| 17 | g.4932950C>G | CA397316040 | CHRNE,GP1BA | c.346C>G (p.Pro116Ala) c.-888+1392G>C (n.-888+1392G>C) | |
| 17 | g.4932950C>T | CA397316043 | CHRNE,GP1BA | c.346C>T (p.Pro116Ser) c.-888+1392G>A (n.-888+1392G>A) | gnomAD v4 |
| 17 | g.4932951C>A | CA397316055 | CHRNE,GP1BA | c.347C>A (p.Pro116His) c.-888+1391G>T (n.-888+1391G>T) | |
| 17 | g.4932951C= | CA2244625373 | CHRNE,GP1BA | c.347C= (p.Pro116=) c.-888+1391G= (n.-888+1391G=) | |
| 17 | g.4932951C>G | CA397316057 | CHRNE,GP1BA | c.347C>G (p.Pro116Arg) c.-888+1391G>C (n.-888+1391G>C) | |
| 17 | g.4932951C>T | CA397316059 | CHRNE,GP1BA | c.347C>T (p.Pro116Leu) c.-888+1391G>A (n.-888+1391G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.4932952T>A | CA497677665 | CHRNE,GP1BA | c.348T>A (p.Pro116=) c.-888+1390A>T (n.-888+1390A>T) | |
| 17 | g.4932952T>C | CA497677669 | CHRNE,GP1BA | c.348T>C (p.Pro116=) c.-888+1390A>G (n.-888+1390A>G) | |
| 17 | g.4932952T>G | CA497677667 | CHRNE,GP1BA | c.348T>G (p.Pro116=) c.-888+1390A>C (n.-888+1390A>C) | |
| 17 | g.4932953G>A | CA8314750 | CHRNE,GP1BA | c.349G>A (p.Ala117Thr) c.-888+1389C>T (n.-888+1389C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932953G>C | CA397316062 | CHRNE,GP1BA | c.349G>C (p.Ala117Pro) c.-888+1389C>G (n.-888+1389C>G) | |
| 17 | g.4932953G= | CA2244625374 | CHRNE,GP1BA | c.349G= (p.Ala117=) c.-888+1389C= (n.-888+1389C=) | |
| 17 | g.4932953G>T | CA397316063 | CHRNE,GP1BA | c.349G>T (p.Ala117Ser) c.-888+1389C>A (n.-888+1389C>A) | |
| 17 | g.4932954C>A | CA397316064 | CHRNE,GP1BA | c.350C>A (p.Ala117Asp) c.-888+1388G>T (n.-888+1388G>T) | |
| 17 | g.4932954C= | CA2244625375 | CHRNE,GP1BA | c.350C= (p.Ala117=) c.-888+1388G= (n.-888+1388G=) | |
| 17 | g.4932954C>G | CA8314751 | CHRNE,GP1BA | c.350C>G (p.Ala117Gly) c.-888+1388G>C (n.-888+1388G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932954C>T | CA397316065 | CHRNE,GP1BA | c.350C>T (p.Ala117Val) c.-888+1388G>A (n.-888+1388G>A) | |
| 17 | g.4932957_4932958del | CA2576136022 | CHRNE,GP1BA | c.353_354del (p.Leu118HisfsTer?) c.-888+1387_-888+1388del (n.-888+1387_-888+1388del) | |
| 17 | g.4932955T>A | CA497677672 | CHRNE,GP1BA | c.351T>A (p.Ala117=) c.-888+1387A>T (n.-888+1387A>T) | |
| 17 | g.4932955T>C | CA497677675 | CHRNE,GP1BA | c.351T>C (p.Ala117=) c.-888+1387A>G (n.-888+1387A>G) | |
| 17 | g.4932955T>G | CA497677676 | CHRNE,GP1BA | c.351T>G (p.Ala117=) c.-888+1387A>C (n.-888+1387A>C) | |
| 17 | g.4932956C>A | CA397316079 | CHRNE,GP1BA | c.352C>A (p.Leu118Ile) c.-888+1386G>T (n.-888+1386G>T) | |
| 17 | g.4932956C>G | CA397316068 | CHRNE,GP1BA | c.352C>G (p.Leu118Val) c.-888+1386G>C (n.-888+1386G>C) | |
| 17 | g.4932956C>T | CA397316069 | CHRNE,GP1BA | c.352C>T (p.Leu118Phe) c.-888+1386G>A (n.-888+1386G>A) | |
| 17 | g.4932957T>A | CA397316083 | CHRNE,GP1BA | c.353T>A (p.Leu118His) c.-888+1385A>T (n.-888+1385A>T) | |
| 17 | g.4932957T>C | CA397316087 | CHRNE,GP1BA | c.353T>C (p.Leu118Pro) c.-888+1385A>G (n.-888+1385A>G) | |
| 17 | g.4932957T>G | CA397316093 | CHRNE,GP1BA | c.353T>G (p.Leu118Arg) c.-888+1385A>C (n.-888+1385A>C) | |
| 17 | g.4932958C>A | CA497677231 | CHRNE,GP1BA | c.354C>A (p.Leu118=) c.-888+1384G>T (n.-888+1384G>T) | |
| 17 | g.4932958C>G | CA497677232 | CHRNE,GP1BA | c.354C>G (p.Leu118=) c.-888+1384G>C (n.-888+1384G>C) | |
| 17 | g.4932958C>T | CA497677233 | CHRNE,GP1BA | c.354C>T (p.Leu118=) c.-888+1384G>A (n.-888+1384G>A) | |
| 17 | g.4932959A= | CA2244625376 | CHRNE,GP1BA | c.355A= (p.Thr119=) c.-888+1383T= (n.-888+1383T=) | |
| 17 | g.4932959A>C | CA397316095 | CHRNE,GP1BA | c.355A>C (p.Thr119Pro) c.-888+1383T>G (n.-888+1383T>G) | |
| 17 | g.4932959A>G | CA8314752 | CHRNE,GP1BA | c.355A>G (p.Thr119Ala) c.-888+1383T>C (n.-888+1383T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932959A>T | CA397316098 | CHRNE,GP1BA | c.355A>T (p.Thr119Ser) c.-888+1383T>A (n.-888+1383T>A) | |
| 17 | g.4932960C>A | CA397316103 | CHRNE,GP1BA | c.356C>A (p.Thr119Asn) c.-888+1382G>T (n.-888+1382G>T) | gnomAD v4 |
| 17 | g.4932960C>G | CA397316105 | CHRNE,GP1BA | c.356C>G (p.Thr119Ser) c.-888+1382G>C (n.-888+1382G>C) | |
| 17 | g.4932960C>T | CA397316108 | CHRNE,GP1BA | c.356C>T (p.Thr119Ile) c.-888+1382G>A (n.-888+1382G>A) | |
| 17 | g.4932961C>A | CA497677238 | CHRNE,GP1BA | c.357C>A (p.Thr119=) c.-888+1381G>T (n.-888+1381G>T) | |
| 17 | g.4932961C= | CA2244625377 | CHRNE,GP1BA | c.357C= (p.Thr119=) c.-888+1381G= (n.-888+1381G=) | |
| 17 | g.4932961C>G | CA497677239 | CHRNE,GP1BA | c.357C>G (p.Thr119=) c.-888+1381G>C (n.-888+1381G>C) | |
| 17 | g.4932961C>T | CA8314753 | CHRNE,GP1BA | c.357C>T (p.Thr119=) c.-888+1381G>A (n.-888+1381G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932962G>A | CA8314754 | CHRNE,GP1BA | c.358G>A (p.Val120Ile) c.-888+1380C>T (n.-888+1380C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932962G>C | CA397316113 | CHRNE,GP1BA | c.358G>C (p.Val120Leu) c.-888+1380C>G (n.-888+1380C>G) | |
| 17 | g.4932962G= | CA2244625378 | CHRNE,GP1BA | c.358G= (p.Val120=) c.-888+1380C= (n.-888+1380C=) | |
| 17 | g.4932962G>T | CA397316114 | CHRNE,GP1BA | c.358G>T (p.Val120Phe) c.-888+1380C>A (n.-888+1380C>A) | |
| 17 | g.4932963T>A | CA397316116 | CHRNE,GP1BA | c.359T>A (p.Val120Asp) c.-888+1379A>T (n.-888+1379A>T) | |
| 17 | g.4932963T>C | CA397316117 | CHRNE,GP1BA | c.359T>C (p.Val120Ala) c.-888+1379A>G (n.-888+1379A>G) | |
| 17 | g.4932963T>G | CA397316115 | CHRNE,GP1BA | c.359T>G (p.Val120Gly) c.-888+1379A>C (n.-888+1379A>C) | |
| 17 | g.4932964C>A | CA497677242 | CHRNE,GP1BA | c.360C>A (p.Val120=) c.-888+1378G>T (n.-888+1378G>T) | gnomAD v4 |
| 17 | g.4932964C= | CA2244625379 | CHRNE,GP1BA | c.360C= (p.Val120=) c.-888+1378G= (n.-888+1378G=) | |
| 17 | g.4932964C>G | CA497677243 | CHRNE,GP1BA | c.360C>G (p.Val120=) c.-888+1378G>C (n.-888+1378G>C) | |
| 17 | g.4932964C>T | CA8314755 | CHRNE,GP1BA | c.360C>T (p.Val120=) c.-888+1378G>A (n.-888+1378G>A) | dbSNP ExAC gnomAD v2 |
| 17 | g.4932965C>A | CA397316120 | CHRNE,GP1BA | c.361C>A (p.Leu121Met) c.-888+1377G>T (n.-888+1377G>T) | COSMIC |
| 17 | g.4932965C>G | CA397316122 | CHRNE,GP1BA | c.361C>G (p.Leu121Val) c.-888+1377G>C (n.-888+1377G>C) | |
| 17 | g.4932965C>T | CA497677245 | CHRNE,GP1BA | c.361C>T (p.Leu121=) c.-888+1377G>A (n.-888+1377G>A) | gnomAD v3 gnomAD v4 |
| 17 | g.4932966T>A | CA397316125 | CHRNE,GP1BA | c.362T>A (p.Leu121Gln) c.-888+1376A>T (n.-888+1376A>T) | |
| 17 | g.4932966T>C | CA397316127 | CHRNE,GP1BA | c.362T>C (p.Leu121Pro) c.-888+1376A>G (n.-888+1376A>G) | |
| 17 | g.4932966T>G | CA397316131 | CHRNE,GP1BA | c.362T>G (p.Leu121Arg) c.-888+1376A>C (n.-888+1376A>C) | |
| 17 | g.4932967G>A | CA497677248 | CHRNE,GP1BA | c.363G>A (p.Leu121=) c.-888+1375C>T (n.-888+1375C>T) | gnomAD v3 gnomAD v4 |
| 17 | g.4932967G>C | CA497677249 | CHRNE,GP1BA | c.363G>C (p.Leu121=) c.-888+1375C>G (n.-888+1375C>G) | dbSNP gnomAD v4 |
| 17 | g.4932967G= | CA2244625380 | CHRNE,GP1BA | c.363G= (p.Leu121=) c.-888+1375C= (n.-888+1375C=) | |
| 17 | g.4932967G>T | CA497677250 | CHRNE,GP1BA | c.363G>T (p.Leu121=) c.-888+1375C>A (n.-888+1375C>A) | |
| 17 | g.4932968G>A | CA397316135 | CHRNE,GP1BA | c.364G>A (p.Asp122Asn) c.-888+1374C>T (n.-888+1374C>T) | |
| 17 | g.4932968G>C | CA397316136 | CHRNE,GP1BA | c.364G>C (p.Asp122His) c.-888+1374C>G (n.-888+1374C>G) | |
| 17 | g.4932968G>T | CA397316140 | CHRNE,GP1BA | c.364G>T (p.Asp122Tyr) c.-888+1374C>A (n.-888+1374C>A) | |
| 17 | g.4932969A= | CA2244625381 | CHRNE,GP1BA | c.365A= (p.Asp122=) c.-888+1373T= (n.-888+1373T=) | |
| 17 | g.4932969A>C | CA8314756 | CHRNE,GP1BA | c.365A>C (p.Asp122Ala) c.-888+1373T>G (n.-888+1373T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4932969A>G | CA397316145 | CHRNE,GP1BA | c.365A>G (p.Asp122Gly) c.-888+1373T>C (n.-888+1373T>C) | |
| 17 | g.4932969A>T | CA397316149 | CHRNE,GP1BA | c.365A>T (p.Asp122Val) c.-888+1373T>A (n.-888+1373T>A) | |
| 17 | g.4932970C>A | CA397316155 | CHRNE,GP1BA | c.366C>A (p.Asp122Glu) c.-888+1372G>T (n.-888+1372G>T) | |
| 17 | g.4932970C= | CA2244625382 | CHRNE,GP1BA | c.366C= (p.Asp122=) c.-888+1372G= (n.-888+1372G=) | |
| 17 | g.4932970C>G | CA397316153 | CHRNE,GP1BA | c.366C>G (p.Asp122Glu) c.-888+1372G>C (n.-888+1372G>C) | |
| 17 | g.4932970C>T | CA8314757 | CHRNE,GP1BA | c.366C>T (p.Asp122=) c.-888+1372G>A (n.-888+1372G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932971G>A | CA8314758 | CHRNE,GP1BA | c.367G>A (p.Val123Ile) c.-888+1371C>T (n.-888+1371C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932971G>C | CA397316161 | CHRNE,GP1BA | c.367G>C (p.Val123Leu) c.-888+1371C>G (n.-888+1371C>G) | |
| 17 | g.4932971G= | CA2244625383 | CHRNE,GP1BA | c.367G= (p.Val123=) c.-888+1371C= (n.-888+1371C=) | |
| 17 | g.4932971G>T | CA397316169 | CHRNE,GP1BA | c.367G>T (p.Val123Phe) c.-888+1371C>A (n.-888+1371C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932972T>A | CA397316173 | CHRNE,GP1BA | c.368T>A (p.Val123Asp) c.-888+1370A>T (n.-888+1370A>T) | gnomAD v4 |
| 17 | g.4932972T>C | CA397316175 | CHRNE,GP1BA | c.368T>C (p.Val123Ala) c.-888+1370A>G (n.-888+1370A>G) | |
| 17 | g.4932972T>G | CA397316177 | CHRNE,GP1BA | c.368T>G (p.Val123Gly) c.-888+1370A>C (n.-888+1370A>C) | |
| 17 | g.4932973C>A | CA497677260 | CHRNE,GP1BA | c.369C>A (p.Val123=) c.-888+1369G>T (n.-888+1369G>T) | |
| 17 | g.4932973C>G | CA497677259 | CHRNE,GP1BA | c.369C>G (p.Val123=) c.-888+1369G>C (n.-888+1369G>C) | |
| 17 | g.4932973C>T | CA497677258 | CHRNE,GP1BA | c.369C>T (p.Val123=) c.-888+1369G>A (n.-888+1369G>A) | |
| 17 | g.4932975_4932977del | CA2733116726 | CHRNE,GP1BA | c.371_373del (p.Ser124del) c.-888+1367_-888+1369del (n.-888+1367_-888+1369del) | dbSNP |
| 17 | g.4932974T>A | CA397316179 | CHRNE,GP1BA | c.370T>A (p.Ser124Thr) c.-888+1368A>T (n.-888+1368A>T) | |
| 17 | g.4932974T>C | CA397316180 | CHRNE,GP1BA | c.370T>C (p.Ser124Pro) c.-888+1368A>G (n.-888+1368A>G) | |
| 17 | g.4932974T>G | CA397316182 | CHRNE,GP1BA | c.370T>G (p.Ser124Ala) c.-888+1368A>C (n.-888+1368A>C) | |
| 17 | g.4932975C>A | CA397316184 | CHRNE,GP1BA | c.371C>A (p.Ser124Tyr) c.-888+1367G>T (n.-888+1367G>T) | |
| 17 | g.4932975C= | CA2244625384 | CHRNE,GP1BA | c.371C= (p.Ser124=) c.-888+1367G= (n.-888+1367G=) | |
| 17 | g.4932975C>G | CA397316185 | CHRNE,GP1BA | c.371C>G (p.Ser124Cys) c.-888+1367G>C (n.-888+1367G>C) | |
| 17 | g.4932975C>T | CA397316186 | CHRNE,GP1BA | c.371C>T (p.Ser124Phe) c.-888+1367G>A (n.-888+1367G>A) | dbSNP COSMIC |
| 17 | g.4932976C>A | CA497677265 | CHRNE,GP1BA | c.372C>A (p.Ser124=) c.-888+1366G>T (n.-888+1366G>T) | |
| 17 | g.4932976C= | CA2244625385 | CHRNE,GP1BA | c.372C= (p.Ser124=) c.-888+1366G= (n.-888+1366G=) | |
| 17 | g.4932976C>G | CA497677266 | CHRNE,GP1BA | c.372C>G (p.Ser124=) c.-888+1366G>C (n.-888+1366G>C) | |
| 17 | g.4932976C>T | CA497677267 | CHRNE,GP1BA | c.372C>T (p.Ser124=) c.-888+1366G>A (n.-888+1366G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932977T>A | CA397316188 | CHRNE,GP1BA | c.373T>A (p.Phe125Ile) c.-888+1365A>T (n.-888+1365A>T) | |
| 17 | g.4932977T>C | CA397316190 | CHRNE,GP1BA | c.373T>C (p.Phe125Leu) c.-888+1365A>G (n.-888+1365A>G) | gnomAD v4 |
| 17 | g.4932977T>G | CA397316187 | CHRNE,GP1BA | c.373T>G (p.Phe125Val) c.-888+1365A>C (n.-888+1365A>C) | gnomAD v4 |
| 17 | g.4932978T>A | CA397316192 | CHRNE,GP1BA | c.374T>A (p.Phe125Tyr) c.-888+1364A>T (n.-888+1364A>T) | |
| 17 | g.4932978T>C | CA397316194 | CHRNE,GP1BA | c.374T>C (p.Phe125Ser) c.-888+1364A>G (n.-888+1364A>G) | |
| 17 | g.4932978T>G | CA397316197 | CHRNE,GP1BA | c.374T>G (p.Phe125Cys) c.-888+1364A>C (n.-888+1364A>C) | |
| 17 | g.4932979C>A | CA397316202 | CHRNE,GP1BA | c.375C>A (p.Phe125Leu) c.-888+1363G>T (n.-888+1363G>T) | |
| 17 | g.4932979C>G | CA397316204 | CHRNE,GP1BA | c.375C>G (p.Phe125Leu) c.-888+1363G>C (n.-888+1363G>C) | |
| 17 | g.4932979C>T | CA497677275 | CHRNE,GP1BA | c.375C>T (p.Phe125=) c.-888+1363G>A (n.-888+1363G>A) | |
| 17 | g.4932980A>C | CA397316206 | CHRNE,GP1BA | c.376A>C (p.Asn126His) c.-888+1362T>G (n.-888+1362T>G) | |
| 17 | g.4932980A>G | CA397316208 | CHRNE,GP1BA | c.376A>G (p.Asn126Asp) c.-888+1362T>C (n.-888+1362T>C) | gnomAD v4 |
| 17 | g.4932980A>T | CA397316211 | CHRNE,GP1BA | c.376A>T (p.Asn126Tyr) c.-888+1362T>A (n.-888+1362T>A) | |
| 17 | g.4932981A>C | CA397316212 | CHRNE,GP1BA | c.377A>C (p.Asn126Thr) c.-888+1361T>G (n.-888+1361T>G) | |
| 17 | g.4932981A>G | CA397316215 | CHRNE,GP1BA | c.377A>G (p.Asn126Ser) c.-888+1361T>C (n.-888+1361T>C) | |
| 17 | g.4932981A>T | CA397316216 | CHRNE,GP1BA | c.377A>T (p.Asn126Ile) c.-888+1361T>A (n.-888+1361T>A) | |
| 17 | g.4932982C>A | CA397316217 | CHRNE,GP1BA | c.378C>A (p.Asn126Lys) c.-888+1360G>T (n.-888+1360G>T) | |
| 17 | g.4932982C>G | CA397316218 | CHRNE,GP1BA | c.378C>G (p.Asn126Lys) c.-888+1360G>C (n.-888+1360G>C) | |
| 17 | g.4932982C>T | CA497677280 | CHRNE,GP1BA | c.378C>T (p.Asn126=) c.-888+1360G>A (n.-888+1360G>A) | |
| 17 | g.4932983C>A | CA8314760 | CHRNE,GP1BA | c.379C>A (p.Arg127=) c.-888+1359G>T (n.-888+1359G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932983C= | CA2244625386 | CHRNE,GP1BA | c.379C= (p.Arg127=) c.-888+1359G= (n.-888+1359G=) | |
| 17 | g.4932983C>G | CA397316219 | CHRNE,GP1BA | c.379C>G (p.Arg127Gly) c.-888+1359G>C (n.-888+1359G>C) | |
| 17 | g.4932983C>T | CA8314759 | CHRNE,GP1BA | c.379C>T (p.Arg127Trp) c.-888+1359G>A (n.-888+1359G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932984G>A | CA8314761 | CHRNE,GP1BA | c.380G>A (p.Arg127Gln) c.-888+1358C>T (n.-888+1358C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.4932984G>C | CA397316220 | CHRNE,GP1BA | c.380G>C (p.Arg127Pro) c.-888+1358C>G (n.-888+1358C>G) | |
| 17 | g.4932984G= | CA2244625387 | CHRNE,GP1BA | c.380G= (p.Arg127=) c.-888+1358C= (n.-888+1358C=) | |
| 17 | g.4932984G>T | CA397316222 | CHRNE,GP1BA | c.380G>T (p.Arg127Leu) c.-888+1358C>A (n.-888+1358C>A) | |
| 17 | g.4932985G>A | CA497677287 | CHRNE,GP1BA | c.381G>A (p.Arg127=) c.-888+1357C>T (n.-888+1357C>T) | |
| 17 | g.4932985G>C | CA497677290 | CHRNE,GP1BA | c.381G>C (p.Arg127=) c.-888+1357C>G (n.-888+1357C>G) | |
| 17 | g.4932985G>T | CA497677289 | CHRNE,GP1BA | c.381G>T (p.Arg127=) c.-888+1357C>A (n.-888+1357C>A) | |
| 17 | g.4932986C>A | CA397316224 | CHRNE,GP1BA | c.382C>A (p.Leu128Met) c.-888+1356G>T (n.-888+1356G>T) | |
| 17 | g.4932986C>G | CA397316226 | CHRNE,GP1BA | c.382C>G (p.Leu128Val) c.-888+1356G>C (n.-888+1356G>C) | |
| 17 | g.4932986C>T | CA497677291 | CHRNE,GP1BA | c.382C>T (p.Leu128=) c.-888+1356G>A (n.-888+1356G>A) | |
| 17 | g.4932987T>A | CA397316229 | CHRNE,GP1BA | c.383T>A (p.Leu128Gln) c.-888+1355A>T (n.-888+1355A>T) | |
| 17 | g.4932987T>C | CA397316231 | CHRNE,GP1BA | c.383T>C (p.Leu128Pro) c.-888+1355A>G (n.-888+1355A>G) | |
| 17 | g.4932987T>G | CA397316233 | CHRNE,GP1BA | c.383T>G (p.Leu128Arg) c.-888+1355A>C (n.-888+1355A>C) | |
| 17 | g.4932988G>A | CA497677293 | CHRNE,GP1BA | c.384G>A (p.Leu128=) c.-888+1354C>T (n.-888+1354C>T) | |
| 17 | g.4932988G>C | CA497677294 | CHRNE,GP1BA | c.384G>C (p.Leu128=) c.-888+1354C>G (n.-888+1354C>G) | |
| 17 | g.4932988G>T | CA497677295 | CHRNE,GP1BA | c.384G>T (p.Leu128=) c.-888+1354C>A (n.-888+1354C>A) | |
| 17 | g.4932989A>C | CA397316235 | CHRNE,GP1BA | c.385A>C (p.Thr129Pro) c.-888+1353T>G (n.-888+1353T>G) | |
| 17 | g.4932989A>G | CA397316237 | CHRNE,GP1BA | c.385A>G (p.Thr129Ala) c.-888+1353T>C (n.-888+1353T>C) | |
| 17 | g.4932989A>T | CA397316240 | CHRNE,GP1BA | c.385A>T (p.Thr129Ser) c.-888+1353T>A (n.-888+1353T>A) | |
| 17 | g.4932990C>A | CA397316243 | CHRNE,GP1BA | c.386C>A (p.Thr129Asn) c.-888+1352G>T (n.-888+1352G>T) | |
| 17 | g.4932990C>G | CA397316245 | CHRNE,GP1BA | c.386C>G (p.Thr129Ser) c.-888+1352G>C (n.-888+1352G>C) | |
| 17 | g.4932990C>T | CA397316247 | CHRNE,GP1BA | c.386C>T (p.Thr129Ile) c.-888+1352G>A (n.-888+1352G>A) | |
| 17 | g.4932991del | CA2580612246 | CHRNE,GP1BA | c.387del (p.Ser130ArgfsTer18) c.-888+1352del (n.-888+1352del) | gnomAD v4 |
| 17 | g.4932991C>A | CA497677299 | CHRNE,GP1BA | c.387C>A (p.Thr129=) c.-888+1351G>T (n.-888+1351G>T) | |
| 17 | g.4932991C>G | CA497677300 | CHRNE,GP1BA | c.387C>G (p.Thr129=) c.-888+1351G>C (n.-888+1351G>C) | |
| 17 | g.4932991C>T | CA497677302 | CHRNE,GP1BA | c.387C>T (p.Thr129=) c.-888+1351G>A (n.-888+1351G>A) | gnomAD v4 |
| 17 | g.4932992T>A | CA397316258 | CHRNE,GP1BA | c.388T>A (p.Ser130Thr) c.-888+1350A>T (n.-888+1350A>T) | |
| 17 | g.4932992T>C | CA397316253 | CHRNE,GP1BA | c.388T>C (p.Ser130Pro) c.-888+1350A>G (n.-888+1350A>G) | |
| 17 | g.4932992T>G | CA397316251 | CHRNE,GP1BA | c.388T>G (p.Ser130Ala) c.-888+1350A>C (n.-888+1350A>C) | |
| 17 | g.4932993C>A | CA397316261 | CHRNE,GP1BA | c.389C>A (p.Ser130Ter) c.-888+1349G>T (n.-888+1349G>T) | |
| 17 | g.4932993C= | CA2244625388 | CHRNE,GP1BA | c.389C= (p.Ser130=) c.-888+1349G= (n.-888+1349G=) | |
| 17 | g.4932993C>G | CA397316260 | CHRNE,GP1BA | c.389C>G (p.Ser130Trp) c.-888+1349G>C (n.-888+1349G>C) | |
| 17 | g.4932993C>T | CA8314762 | CHRNE,GP1BA | c.389C>T (p.Ser130Leu) c.-888+1349G>A (n.-888+1349G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>A | CA8314763 | CHRNE,GP1BA | c.390G>A (p.Ser130=) c.-888+1348C>T (n.-888+1348C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4932994G>C | CA497677303 | CHRNE,GP1BA | c.390G>C (p.Ser130=) c.-888+1348C>G (n.-888+1348C>G) | |
| 17 | g.4932994G= | CA2244625389 | CHRNE,GP1BA | c.390G= (p.Ser130=) c.-888+1348C= (n.-888+1348C=) | |
| 17 | g.4932994G>T | CA497677304 | CHRNE,GP1BA | c.390G>T (p.Ser130=) c.-888+1348C>A (n.-888+1348C>A) | |
| 17 | g.4932995C>A | CA397316265 | CHRNE,GP1BA | c.391C>A (p.Leu131Met) c.-888+1347G>T (n.-888+1347G>T) | gnomAD v4 |
| 17 | g.4932995C= | CA2244625390 | CHRNE,GP1BA | c.391C= (p.Leu131=) c.-888+1347G= (n.-888+1347G=) | |
| 17 | g.4932995C>G | CA397316267 | CHRNE,GP1BA | c.391C>G (p.Leu131Val) c.-888+1347G>C (n.-888+1347G>C) | |
| 17 | g.4932995C>T | CA497677307 | CHRNE,GP1BA | c.391C>T (p.Leu131=) c.-888+1347G>A (n.-888+1347G>A) | dbSNP |
| 17 | g.4932996T>A | CA397316269 | CHRNE,GP1BA | c.392T>A (p.Leu131Gln) c.-888+1346A>T (n.-888+1346A>T) | |
| 17 | g.4932996T>C | CA397316271 | CHRNE,GP1BA | c.392T>C (p.Leu131Pro) c.-888+1346A>G (n.-888+1346A>G) | |
| 17 | g.4932996T>G | CA397316272 | CHRNE,GP1BA | c.392T>G (p.Leu131Arg) c.-888+1346A>C (n.-888+1346A>C) | |
| 17 | g.4932997G>A | CA497677308 | CHRNE,GP1BA | c.393G>A (p.Leu131=) c.-888+1345C>T (n.-888+1345C>T) | |
| 17 | g.4932997G>C | CA497677309 | CHRNE,GP1BA | c.393G>C (p.Leu131=) c.-888+1345C>G (n.-888+1345C>G) | |
| 17 | g.4932997G>T | CA497677311 | CHRNE,GP1BA | c.393G>T (p.Leu131=) c.-888+1345C>A (n.-888+1345C>A) | |
| 17 | g.4932998C>A | CA397316273 | CHRNE,GP1BA | c.394C>A (p.Pro132Thr) c.-888+1344G>T (n.-888+1344G>T) | |
| 17 | g.4932998C>G | CA397316275 | CHRNE,GP1BA | c.394C>G (p.Pro132Ala) c.-888+1344G>C (n.-888+1344G>C) | |
| 17 | g.4932998C>T | CA397316277 | CHRNE,GP1BA | c.394C>T (p.Pro132Ser) c.-888+1344G>A (n.-888+1344G>A) | gnomAD v4 |
| 17 | g.4932999C>A | CA397316279 | CHRNE,GP1BA | c.395C>A (p.Pro132His) c.-888+1343G>T (n.-888+1343G>T) | |
| 17 | g.4932999C= | CA2244625391 | CHRNE,GP1BA | c.395C= (p.Pro132=) c.-888+1343G= (n.-888+1343G=) | |
| 17 | g.4932999C>G | CA397316280 | CHRNE,GP1BA | c.395C>G (p.Pro132Arg) c.-888+1343G>C (n.-888+1343G>C) | |
| 17 | g.4932999C>T | CA8314764 | CHRNE,GP1BA | c.395C>T (p.Pro132Leu) c.-888+1343G>A (n.-888+1343G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933000T>A | CA497677312 | CHRNE,GP1BA | c.396T>A (p.Pro132=) c.-888+1342A>T (n.-888+1342A>T) | |
| 17 | g.4933000T>C | CA8314765 | CHRNE,GP1BA | c.396T>C (p.Pro132=) c.-888+1342A>G (n.-888+1342A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933000T>G | CA497677313 | CHRNE,GP1BA | c.396T>G (p.Pro132=) c.-888+1342A>C (n.-888+1342A>C) | |
| 17 | g.4933000T= | CA2244625392 | CHRNE,GP1BA | c.396T= (p.Pro132=) c.-888+1342A= (n.-888+1342A=) | |
| 17 | g.4933001C>A | CA397316286 | CHRNE,GP1BA | c.397C>A (p.Leu133Ile) c.-888+1341G>T (n.-888+1341G>T) | |
| 17 | g.4933001C>G | CA397316285 | CHRNE,GP1BA | c.397C>G (p.Leu133Val) c.-888+1341G>C (n.-888+1341G>C) | |
| 17 | g.4933001C>T | CA397316283 | CHRNE,GP1BA | c.397C>T (p.Leu133Phe) c.-888+1341G>A (n.-888+1341G>A) | |
| 17 | g.4933002T>A | CA397316288 | CHRNE,GP1BA | c.398T>A (p.Leu133His) c.-888+1340A>T (n.-888+1340A>T) | |
| 17 | g.4933002T>C | CA397316290 | CHRNE,GP1BA | c.398T>C (p.Leu133Pro) c.-888+1340A>G (n.-888+1340A>G) | gnomAD v4 |
| 17 | g.4933002T>G | CA397316291 | CHRNE,GP1BA | c.398T>G (p.Leu133Arg) c.-888+1340A>C (n.-888+1340A>C) | |
| 17 | g.4933003T>A | CA497677315 | CHRNE,GP1BA | c.399T>A (p.Leu133=) c.-888+1339A>T (n.-888+1339A>T) | |
| 17 | g.4933003T>C | CA497677317 | CHRNE,GP1BA | c.399T>C (p.Leu133=) c.-888+1339A>G (n.-888+1339A>G) | gnomAD v4 |
| 17 | g.4933003T>G | CA497677319 | CHRNE,GP1BA | c.399T>G (p.Leu133=) c.-888+1339A>C (n.-888+1339A>C) | |
| 17 | g.4933004G>A | CA397316292 | CHRNE,GP1BA | c.400G>A (p.Gly134Ser) c.-888+1338C>T (n.-888+1338C>T) | |
| 17 | g.4933004G>C | CA397316293 | CHRNE,GP1BA | c.400G>C (p.Gly134Arg) c.-888+1338C>G (n.-888+1338C>G) | |
| 17 | g.4933004G>T | CA397316294 | CHRNE,GP1BA | c.400G>T (p.Gly134Cys) c.-888+1338C>A (n.-888+1338C>A) | |
| 17 | g.4933005G>A | CA397316296 | CHRNE,GP1BA | c.401G>A (p.Gly134Asp) c.-888+1337C>T (n.-888+1337C>T) | |
| 17 | g.4933005G>C | CA397316297 | CHRNE,GP1BA | c.401G>C (p.Gly134Ala) c.-888+1337C>G (n.-888+1337C>G) | |
| 17 | g.4933005G>T | CA397316299 | CHRNE,GP1BA | c.401G>T (p.Gly134Val) c.-888+1337C>A (n.-888+1337C>A) | |
| 17 | g.4933006T>A | CA497677321 | CHRNE,GP1BA | c.402T>A (p.Gly134=) c.-888+1336A>T (n.-888+1336A>T) | |
| 17 | g.4933006T>C | CA8314766 | CHRNE,GP1BA | c.402T>C (p.Gly134=) c.-888+1336A>G (n.-888+1336A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933006T>G | CA497677323 | CHRNE,GP1BA | c.402T>G (p.Gly134=) c.-888+1336A>C (n.-888+1336A>C) | |
| 17 | g.4933006T= | CA2244625393 | CHRNE,GP1BA | c.402T= (p.Gly134=) c.-888+1336A= (n.-888+1336A=) | |
| 17 | g.4933007G>A | CA397316301 | CHRNE,GP1BA | c.403G>A (p.Ala135Thr) c.-888+1335C>T (n.-888+1335C>T) | COSMIC |
| 17 | g.4933007G>C | CA397316302 | CHRNE,GP1BA | c.403G>C (p.Ala135Pro) c.-888+1335C>G (n.-888+1335C>G) | |
| 17 | g.4933007G>T | CA397316305 | CHRNE,GP1BA | c.403G>T (p.Ala135Ser) c.-888+1335C>A (n.-888+1335C>A) | |
| 17 | g.4933008C>A | CA397316308 | CHRNE,GP1BA | c.404C>A (p.Ala135Asp) c.-888+1334G>T (n.-888+1334G>T) | |
| 17 | g.4933008C= | CA2244625394 | CHRNE,GP1BA | c.404C= (p.Ala135=) c.-888+1334G= (n.-888+1334G=) | |
| 17 | g.4933008C>G | CA397316309 | CHRNE,GP1BA | c.404C>G (p.Ala135Gly) c.-888+1334G>C (n.-888+1334G>C) | |
| 17 | g.4933008C>T | CA397316306 | CHRNE,GP1BA | c.404C>T (p.Ala135Val) c.-888+1334G>A (n.-888+1334G>A) | dbSNP |
| 17 | g.4933010del | CA2635578688 | CHRNE,GP1BA | c.406del (p.Leu136CysfsTer12) c.-888+1334del (n.-888+1334del) | gnomAD v4 |
| 17 | g.4933009C>A | CA497677326 | CHRNE,GP1BA | c.405C>A (p.Ala135=) c.-888+1333G>T (n.-888+1333G>T) | |
| 17 | g.4933009C>G | CA497677327 | CHRNE,GP1BA | c.405C>G (p.Ala135=) c.-888+1333G>C (n.-888+1333G>C) | |
| 17 | g.4933009C>T | CA497677328 | CHRNE,GP1BA | c.405C>T (p.Ala135=) c.-888+1333G>A (n.-888+1333G>A) | |
| 17 | g.4933010C>A | CA397316311 | CHRNE,GP1BA | c.406C>A (p.Leu136Met) c.-888+1332G>T (n.-888+1332G>T) | |
| 17 | g.4933010C= | CA2244625395 | CHRNE,GP1BA | c.406C= (p.Leu136=) c.-888+1332G= (n.-888+1332G=) | |
| 17 | g.4933010C>G | CA397316312 | CHRNE,GP1BA | c.406C>G (p.Leu136Val) c.-888+1332G>C (n.-888+1332G>C) | |
| 17 | g.4933010C>T | CA497677330 | CHRNE,GP1BA | c.406C>T (p.Leu136=) c.-888+1332G>A (n.-888+1332G>A) | dbSNP |
| 17 | g.4933011T>A | CA397316313 | CHRNE,GP1BA | c.407T>A (p.Leu136Gln) c.-888+1331A>T (n.-888+1331A>T) | |
| 17 | g.4933011T>C | CA397316315 | CHRNE,GP1BA | c.407T>C (p.Leu136Pro) c.-888+1331A>G (n.-888+1331A>G) | ClinVar dbSNP gnomAD v4 |
| 17 | g.4933011T>G | CA397316316 | CHRNE,GP1BA | c.407T>G (p.Leu136Arg) c.-888+1331A>C (n.-888+1331A>C) | |
| 17 | g.4933011T= | CA2244625396 | CHRNE,GP1BA | c.407T= (p.Leu136=) c.-888+1331A= (n.-888+1331A=) | |
| 17 | g.4933012G>A | CA497677332 | CHRNE,GP1BA | c.408G>A (p.Leu136=) c.-888+1330C>T (n.-888+1330C>T) | |
| 17 | g.4933012G>C | CA497677333 | CHRNE,GP1BA | c.408G>C (p.Leu136=) c.-888+1330C>G (n.-888+1330C>G) | |
| 17 | g.4933012G>T | CA497677334 | CHRNE,GP1BA | c.408G>T (p.Leu136=) c.-888+1330C>A (n.-888+1330C>A) | |
| 17 | g.4933013C>A | CA397316318 | CHRNE,GP1BA | c.409C>A (p.Arg137Ser) c.-888+1329G>T (n.-888+1329G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933013C= | CA2244625397 | CHRNE,GP1BA | c.409C= (p.Arg137=) c.-888+1329G= (n.-888+1329G=) | |
| 17 | g.4933013C>G | CA397316320 | CHRNE,GP1BA | c.409C>G (p.Arg137Gly) c.-888+1329G>C (n.-888+1329G>C) | |
| 17 | g.4933013C>T | CA397316321 | CHRNE,GP1BA | c.409C>T (p.Arg137Cys) c.-888+1329G>A (n.-888+1329G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933014G>A | CA8314767 | CHRNE,GP1BA | c.410G>A (p.Arg137His) c.-888+1328C>T (n.-888+1328C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933014G>C | CA397316324 | CHRNE,GP1BA | c.410G>C (p.Arg137Pro) c.-888+1328C>G (n.-888+1328C>G) | |
| 17 | g.4933014G= | CA2244625398 | CHRNE,GP1BA | c.410G= (p.Arg137=) c.-888+1328C= (n.-888+1328C=) | |
| 17 | g.4933014G>T | CA397316326 | CHRNE,GP1BA | c.410G>T (p.Arg137Leu) c.-888+1328C>A (n.-888+1328C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.4933015T>A | CA497677340 | CHRNE,GP1BA | c.411T>A (p.Arg137=) c.-888+1327A>T (n.-888+1327A>T) | |
| 17 | g.4933015T>C | CA497677339 | CHRNE,GP1BA | c.411T>C (p.Arg137=) c.-888+1327A>G (n.-888+1327A>G) | |
| 17 | g.4933015T>G | CA497677338 | CHRNE,GP1BA | c.411T>G (p.Arg137=) c.-888+1327A>C (n.-888+1327A>C) | |
| 17 | g.4933016G>A | CA397316330 | CHRNE,GP1BA | c.412G>A (p.Gly138Ser) c.-888+1326C>T (n.-888+1326C>T) | |
| 17 | g.4933016G>C | CA397316329 | CHRNE,GP1BA | c.412G>C (p.Gly138Arg) c.-888+1326C>G (n.-888+1326C>G) | |
| 17 | g.4933016G= | CA2244625399 | CHRNE,GP1BA | c.412G= (p.Gly138=) c.-888+1326C= (n.-888+1326C=) | |
| 17 | g.4933016G>T | CA287216070 | CHRNE,GP1BA | c.412G>T (p.Gly138Cys) c.-888+1326C>A (n.-888+1326C>A) | dbSNP |
| 17 | g.4933017G>A | CA397316331 | CHRNE,GP1BA | c.413G>A (p.Gly138Asp) c.-888+1325C>T (n.-888+1325C>T) | |
| 17 | g.4933017G>C | CA397316332 | CHRNE,GP1BA | c.413G>C (p.Gly138Ala) c.-888+1325C>G (n.-888+1325C>G) | |
| 17 | g.4933017G= | CA2244625400 | CHRNE,GP1BA | c.413G= (p.Gly138=) c.-888+1325C= (n.-888+1325C=) | |
| 17 | g.4933017G>T | CA397316334 | CHRNE,GP1BA | c.413G>T (p.Gly138Val) c.-888+1325C>A (n.-888+1325C>A) | ClinVar dbSNP |
| 17 | g.4933018T>A | CA497677342 | CHRNE,GP1BA | c.414T>A (p.Gly138=) c.-888+1324A>T (n.-888+1324A>T) | |
| 17 | g.4933018T>C | CA497677343 | CHRNE,GP1BA | c.414T>C (p.Gly138=) c.-888+1324A>G (n.-888+1324A>G) | |
| 17 | g.4933018T>G | CA497677344 | CHRNE,GP1BA | c.414T>G (p.Gly138=) c.-888+1324A>C (n.-888+1324A>C) | |
| 17 | g.4933019C>A | CA397316336 | CHRNE,GP1BA | c.415C>A (p.Leu139Ile) c.-888+1323G>T (n.-888+1323G>T) | |
| 17 | g.4933019C= | CA2244625401 | CHRNE,GP1BA | c.415C= (p.Leu139=) c.-888+1323G= (n.-888+1323G=) | |
| 17 | g.4933019C>G | CA397316338 | CHRNE,GP1BA | c.415C>G (p.Leu139Val) c.-888+1323G>C (n.-888+1323G>C) | |
| 17 | g.4933019C>T | CA8314768 | CHRNE,GP1BA | c.415C>T (p.Leu139Phe) c.-888+1323G>A (n.-888+1323G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933020T>A | CA397316341 | CHRNE,GP1BA | c.416T>A (p.Leu139His) c.-888+1322A>T (n.-888+1322A>T) | |
| 17 | g.4933020T>C | CA397316342 | CHRNE,GP1BA | c.416T>C (p.Leu139Pro) c.-888+1322A>G (n.-888+1322A>G) | dbSNP gnomAD v4 |
| 17 | g.4933020T>G | CA397316343 | CHRNE,GP1BA | c.416T>G (p.Leu139Arg) c.-888+1322A>C (n.-888+1322A>C) | |
| 17 | g.4933020T= | CA2244625402 | CHRNE,GP1BA | c.416T= (p.Leu139=) c.-888+1322A= (n.-888+1322A=) | |
| 17 | g.4933021T>A | CA497677347 | CHRNE,GP1BA | c.417T>A (p.Leu139=) c.-888+1321A>T (n.-888+1321A>T) | |
| 17 | g.4933021T>C | CA497677350 | CHRNE,GP1BA | c.417T>C (p.Leu139=) c.-888+1321A>G (n.-888+1321A>G) | |
| 17 | g.4933021T>G | CA497677349 | CHRNE,GP1BA | c.417T>G (p.Leu139=) c.-888+1321A>C (n.-888+1321A>C) | |
| 17 | g.4933022G>A | CA397316345 | CHRNE,GP1BA | c.418G>A (p.Gly140Ser) c.-888+1320C>T (n.-888+1320C>T) | |
| 17 | g.4933022G>C | CA397316348 | CHRNE,GP1BA | c.418G>C (p.Gly140Arg) c.-888+1320C>G (n.-888+1320C>G) | |
| 17 | g.4933022G>T | CA397316354 | CHRNE,GP1BA | c.418G>T (p.Gly140Cys) c.-888+1320C>A (n.-888+1320C>A) | |
| 17 | g.4933023G>A | CA397316358 | CHRNE,GP1BA | c.419G>A (p.Gly140Asp) c.-888+1319C>T (n.-888+1319C>T) | |
| 17 | g.4933023G>C | CA397316360 | CHRNE,GP1BA | c.419G>C (p.Gly140Ala) c.-888+1319C>G (n.-888+1319C>G) | |
| 17 | g.4933023G>T | CA397316356 | CHRNE,GP1BA | c.419G>T (p.Gly140Val) c.-888+1319C>A (n.-888+1319C>A) | |
| 17 | g.4933024C>A | CA8314770 | CHRNE,GP1BA | c.420C>A (p.Gly140=) c.-888+1318G>T (n.-888+1318G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933024C= | CA2244625403 | CHRNE,GP1BA | c.420C= (p.Gly140=) c.-888+1318G= (n.-888+1318G=) | |
| 17 | g.4933024C>G | CA497677352 | CHRNE,GP1BA | c.420C>G (p.Gly140=) c.-888+1318G>C (n.-888+1318G>C) | |
| 17 | g.4933024C>T | CA8314769 | CHRNE,GP1BA | c.420C>T (p.Gly140=) c.-888+1318G>A (n.-888+1318G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>A | CA8314771 | CHRNE,GP1BA | c.421G>A (p.Glu141Lys) c.-888+1317C>T (n.-888+1317C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.4933025G>C | CA397316371 | CHRNE,GP1BA | c.421G>C (p.Glu141Gln) c.-888+1317C>G (n.-888+1317C>G) | |
| 17 | g.4933025G= | CA2244625404 | CHRNE,GP1BA | c.421G= (p.Glu141=) c.-888+1317C= (n.-888+1317C=) | |
| 17 | g.4933025G>T | CA397316375 | CHRNE,GP1BA | c.421G>T (p.Glu141Ter) c.-888+1317C>A (n.-888+1317C>A) | |
| 17 | g.4933026A>C | CA397316379 | CHRNE,GP1BA | c.422A>C (p.Glu141Ala) c.-888+1316T>G (n.-888+1316T>G) | |
| 17 | g.4933026A>G | CA397316382 | CHRNE,GP1BA | c.422A>G (p.Glu141Gly) c.-888+1316T>C (n.-888+1316T>C) | |
| 17 | g.4933026A>T | CA397316388 | CHRNE,GP1BA | c.422A>T (p.Glu141Val) c.-888+1316T>A (n.-888+1316T>A) | |
| 17 | g.4933027A>C | CA397316390 | CHRNE,GP1BA | c.423A>C (p.Glu141Asp) c.-888+1315T>G (n.-888+1315T>G) | |
| 17 | g.4933027A>G | CA497677354 | CHRNE,GP1BA | c.423A>G (p.Glu141=) c.-888+1315T>C (n.-888+1315T>C) | |
| 17 | g.4933027A>T | CA397316391 | CHRNE,GP1BA | c.423A>T (p.Glu141Asp) c.-888+1315T>A (n.-888+1315T>A) | |
| 17 | g.4933028C>A | CA8314772 | CHRNE,GP1BA | c.424C>A (p.Leu142Ile) c.-888+1314G>T (n.-888+1314G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.4933028C= | CA2244625405 | CHRNE,GP1BA | c.424C= (p.Leu142=) c.-888+1314G= (n.-888+1314G=) | |
| 17 | g.4933028C>G | CA397316397 | CHRNE,GP1BA | c.424C>G (p.Leu142Val) c.-888+1314G>C (n.-888+1314G>C) | gnomAD v4 |
| 17 | g.4933028C>T | CA397316400 | CHRNE,GP1BA | c.424C>T (p.Leu142Phe) c.-888+1314G>A (n.-888+1314G>A) |