| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.6291483G>A | CA2669826060 | WFS1 | c.631+116G>A (n.631+116G>A) c.608+129G>A c.*42G>A (n.*42G>A) c.382+116G>A (n.382+116G>A) c.430+116G>A (n.430+116G>A) c.228+116G>A n.816+116G>A c.640+116G>A (n.640+116G>A) | gnomAD v4 |
| 4 | g.6291483_6291533delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA | CA1435768712 | WFS1 | c.631+116_631+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA (n.631+116_631+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA) c.608+129_608+179delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA c.*42_*92delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA (n.*42_*92delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA) c.382+116_382+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA (n.382+116_382+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA) c.430+116_430+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA (n.430+116_430+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA) c.228+116_228+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA n.816+116_816+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA c.640+116_640+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA (n.640+116_640+166delinsGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGA) | |
| 4 | g.6291484C>A | CA2669826061 | WFS1 | c.631+117C>A (n.631+117C>A) c.608+130C>A c.*43C>A (n.*43C>A) c.382+117C>A (n.382+117C>A) c.430+117C>A (n.430+117C>A) c.228+117C>A n.816+117C>A c.640+117C>A (n.640+117C>A) | gnomAD v4 |
| 4 | g.6291484C= | CA1435768713 | WFS1 | c.631+117C= (n.631+117C=) c.608+130C= c.*43C= (n.*43C=) c.382+117C= (n.382+117C=) c.430+117C= (n.430+117C=) c.228+117C= n.816+117C= c.640+117C= (n.640+117C=) | |
| 4 | g.6291484C>T | CA549707990 | WFS1 | c.631+117C>T (n.631+117C>T) c.608+130C>T c.*43C>T (n.*43C>T) c.382+117C>T (n.382+117C>T) c.430+117C>T (n.430+117C>T) c.228+117C>T n.816+117C>T c.640+117C>T (n.640+117C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291486_6291535del | CA549707989 | WFS1 | c.631+119_631+168del (n.631+119_631+168del) c.608+132_608+181del c.*45_*94del (n.*45_*94del) c.382+119_382+168del (n.382+119_382+168del) c.430+119_430+168del (n.430+119_430+168del) c.228+119_228+168del n.816+119_816+168del c.640+119_640+168del (n.640+119_640+168del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291485C>A | CA2669826062 | WFS1 | c.631+118C>A (n.631+118C>A) c.608+131C>A c.*44C>A (n.*44C>A) c.382+118C>A (n.382+118C>A) c.430+118C>A (n.430+118C>A) c.228+118C>A n.816+118C>A c.640+118C>A (n.640+118C>A) | gnomAD v4 |
| 4 | g.6291485C= | CA1435768714 | WFS1 | c.631+118C= (n.631+118C=) c.608+131C= c.*44C= (n.*44C=) c.382+118C= (n.382+118C=) c.430+118C= (n.430+118C=) c.228+118C= n.816+118C= c.640+118C= (n.640+118C=) | |
| 4 | g.6291485C>T | CA91794590 | WFS1 | c.631+118C>T (n.631+118C>T) c.608+131C>T c.*44C>T (n.*44C>T) c.382+118C>T (n.382+118C>T) c.430+118C>T (n.430+118C>T) c.228+118C>T n.816+118C>T c.640+118C>T (n.640+118C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291486G>A | CA91794591 | WFS1 | c.631+119G>A (n.631+119G>A) c.608+132G>A c.*45G>A (n.*45G>A) c.382+119G>A (n.382+119G>A) c.430+119G>A (n.430+119G>A) c.228+119G>A n.816+119G>A c.640+119G>A (n.640+119G>A) | dbSNP gnomAD v4 |
| 4 | g.6291486G>C | CA2669826064 | WFS1 | c.631+119G>C (n.631+119G>C) c.608+132G>C c.*45G>C (n.*45G>C) c.382+119G>C (n.382+119G>C) c.430+119G>C (n.430+119G>C) c.228+119G>C n.816+119G>C c.640+119G>C (n.640+119G>C) | gnomAD v4 |
| 4 | g.6291486G= | CA1435768715 | WFS1 | c.631+119G= (n.631+119G=) c.608+132G= c.*45G= (n.*45G=) c.382+119G= (n.382+119G=) c.430+119G= (n.430+119G=) c.228+119G= n.816+119G= c.640+119G= (n.640+119G=) | |
| 4 | g.6291486G>T | CA2669826065 | WFS1 | c.631+119G>T (n.631+119G>T) c.608+132G>T c.*45G>T (n.*45G>T) c.382+119G>T (n.382+119G>T) c.430+119G>T (n.430+119G>T) c.228+119G>T n.816+119G>T c.640+119G>T (n.640+119G>T) | gnomAD v4 |
| 4 | g.6291488del | CA2669826063 | WFS1 | c.631+121del (n.631+121del) c.608+134del c.*47del (n.*47del) c.382+121del (n.382+121del) c.430+121del (n.430+121del) c.228+121del n.816+121del c.640+121del (n.640+121del) | gnomAD v4 |
| 4 | g.6291487G>A | CA91794592 | WFS1 | c.631+120G>A (n.631+120G>A) c.608+133G>A c.*46G>A (n.*46G>A) c.382+120G>A (n.382+120G>A) c.430+120G>A (n.430+120G>A) c.228+120G>A n.816+120G>A c.640+120G>A (n.640+120G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291487G= | CA1435768716 | WFS1 | c.631+120G= (n.631+120G=) c.608+133G= c.*46G= (n.*46G=) c.382+120G= (n.382+120G=) c.430+120G= (n.430+120G=) c.228+120G= n.816+120G= c.640+120G= (n.640+120G=) | |
| 4 | g.6291487G>T | CA2669826066 | WFS1 | c.631+120G>T (n.631+120G>T) c.608+133G>T c.*46G>T (n.*46G>T) c.382+120G>T (n.382+120G>T) c.430+120G>T (n.430+120G>T) c.228+120G>T n.816+120G>T c.640+120G>T (n.640+120G>T) | gnomAD v4 |
| 4 | g.6291488G>A | CA91794593 | WFS1 | c.631+121G>A (n.631+121G>A) c.608+134G>A c.*47G>A (n.*47G>A) c.382+121G>A (n.382+121G>A) c.430+121G>A (n.430+121G>A) c.228+121G>A n.816+121G>A c.640+121G>A (n.640+121G>A) | dbSNP gnomAD v4 |
| 4 | g.6291488G>C | CA91794594 | WFS1 | c.631+121G>C (n.631+121G>C) c.608+134G>C c.*47G>C (n.*47G>C) c.382+121G>C (n.382+121G>C) c.430+121G>C (n.430+121G>C) c.228+121G>C n.816+121G>C c.640+121G>C (n.640+121G>C) | dbSNP gnomAD v4 |
| 4 | g.6291488G= | CA1435768717 | WFS1 | c.631+121G= (n.631+121G=) c.608+134G= c.*47G= (n.*47G=) c.382+121G= (n.382+121G=) c.430+121G= (n.430+121G=) c.228+121G= n.816+121G= c.640+121G= (n.640+121G=) | |
| 4 | g.6291488G>T | CA2669826067 | WFS1 | c.631+121G>T (n.631+121G>T) c.608+134G>T c.*47G>T (n.*47G>T) c.382+121G>T (n.382+121G>T) c.430+121G>T (n.430+121G>T) c.228+121G>T n.816+121G>T c.640+121G>T (n.640+121G>T) | gnomAD v4 |
| 4 | g.6291489A>G | CA2669826069 | WFS1 | c.631+122A>G (n.631+122A>G) c.608+135A>G c.*48A>G (n.*48A>G) c.382+122A>G (n.382+122A>G) c.430+122A>G (n.430+122A>G) c.228+122A>G n.816+122A>G c.640+122A>G (n.640+122A>G) | gnomAD v4 |
| 4 | g.6291489A>T | CA2669826070 | WFS1 | c.631+122A>T (n.631+122A>T) c.608+135A>T c.*48A>T (n.*48A>T) c.382+122A>T (n.382+122A>T) c.430+122A>T (n.430+122A>T) c.228+122A>T n.816+122A>T c.640+122A>T (n.640+122A>T) | gnomAD v4 |
| 4 | g.6291496_6291545del | CA2669826068 | WFS1 | c.631+129_631+178del (n.631+129_631+178del) c.608+142_608+191del c.*55_*104del (n.*55_*104del) c.382+129_382+178del (n.382+129_382+178del) c.430+129_430+178del (n.430+129_430+178del) c.228+129_228+178del n.816+129_816+178del c.640+129_640+178del (n.640+129_640+178del) | gnomAD v4 |
| 4 | g.6291490C>A | CA2669826071 | WFS1 | c.631+123C>A (n.631+123C>A) c.608+136C>A c.*49C>A (n.*49C>A) c.382+123C>A (n.382+123C>A) c.430+123C>A (n.430+123C>A) c.228+123C>A n.816+123C>A c.640+123C>A (n.640+123C>A) | gnomAD v4 |
| 4 | g.6291490C>T | CA2669826072 | WFS1 | c.631+123C>T (n.631+123C>T) c.608+136C>T c.*49C>T (n.*49C>T) c.382+123C>T (n.382+123C>T) c.430+123C>T (n.430+123C>T) c.228+123C>T n.816+123C>T c.640+123C>T (n.640+123C>T) | gnomAD v4 |
| 4 | g.6291491C>A | CA2669826073 | WFS1 | c.631+124C>A (n.631+124C>A) c.608+137C>A c.*50C>A (n.*50C>A) c.382+124C>A (n.382+124C>A) c.430+124C>A (n.430+124C>A) c.228+124C>A n.816+124C>A c.640+124C>A (n.640+124C>A) | gnomAD v4 |
| 4 | g.6291492T>C | CA2669826074 | WFS1 | c.631+125T>C (n.631+125T>C) c.608+138T>C c.*51T>C (n.*51T>C) c.382+125T>C (n.382+125T>C) c.430+125T>C (n.430+125T>C) c.228+125T>C n.816+125T>C c.640+125T>C (n.640+125T>C) | gnomAD v4 |
| 4 | g.6291492T>G | CA2669826075 | WFS1 | c.631+125T>G (n.631+125T>G) c.608+138T>G c.*51T>G (n.*51T>G) c.382+125T>G (n.382+125T>G) c.430+125T>G (n.430+125T>G) c.228+125T>G n.816+125T>G c.640+125T>G (n.640+125T>G) | gnomAD v4 |
| 4 | g.6291493T>C | CA2669826076 | WFS1 | c.631+126T>C (n.631+126T>C) c.608+139T>C c.*52T>C (n.*52T>C) c.382+126T>C (n.382+126T>C) c.430+126T>C (n.430+126T>C) c.228+126T>C n.816+126T>C c.640+126T>C (n.640+126T>C) | gnomAD v4 |
| 4 | g.6291493T>G | CA2669826077 | WFS1 | c.631+126T>G (n.631+126T>G) c.608+139T>G c.*52T>G (n.*52T>G) c.382+126T>G (n.382+126T>G) c.430+126T>G (n.430+126T>G) c.228+126T>G n.816+126T>G c.640+126T>G (n.640+126T>G) | gnomAD v4 |
| 4 | g.6291493_6291494delinsTC | CA1435768718 | WFS1 | c.631+126_631+127delinsTC (n.631+126_631+127delinsTC) c.608+139_608+140delinsTC c.*52_*53delinsTC (n.*52_*53delinsTC) c.382+126_382+127delinsTC (n.382+126_382+127delinsTC) c.430+126_430+127delinsTC (n.430+126_430+127delinsTC) c.228+126_228+127delinsTC n.816+126_816+127delinsTC c.640+126_640+127delinsTC (n.640+126_640+127delinsTC) | |
| 4 | g.6291494C>A | CA2669826079 | WFS1 | c.631+127C>A (n.631+127C>A) c.608+140C>A c.*53C>A (n.*53C>A) c.382+127C>A (n.382+127C>A) c.430+127C>A (n.430+127C>A) c.228+127C>A n.816+127C>A c.640+127C>A (n.640+127C>A) | gnomAD v4 |
| 4 | g.6291494C>T | CA2669826078 | WFS1 | c.631+127C>T (n.631+127C>T) c.608+140C>T c.*53C>T (n.*53C>T) c.382+127C>T (n.382+127C>T) c.430+127C>T (n.430+127C>T) c.228+127C>T n.816+127C>T c.640+127C>T (n.640+127C>T) | gnomAD v4 |
| 4 | g.6291496del | CA91794595 | WFS1 | c.631+129del (n.631+129del) c.608+142del c.*55del (n.*55del) c.382+129del (n.382+129del) c.430+129del (n.430+129del) c.228+129del n.816+129del c.640+129del (n.640+129del) | dbSNP gnomAD v4 |
| 4 | g.6291495C>A | CA2669826080 | WFS1 | c.631+128C>A (n.631+128C>A) c.608+141C>A c.*54C>A (n.*54C>A) c.382+128C>A (n.382+128C>A) c.430+128C>A (n.430+128C>A) c.228+128C>A n.816+128C>A c.640+128C>A (n.640+128C>A) | gnomAD v4 |
| 4 | g.6291496C>A | CA2669826081 | WFS1 | c.631+129C>A (n.631+129C>A) c.608+142C>A c.*55C>A (n.*55C>A) c.382+129C>A (n.382+129C>A) c.430+129C>A (n.430+129C>A) c.228+129C>A n.816+129C>A c.640+129C>A (n.640+129C>A) | gnomAD v4 |
| 4 | g.6291496C= | CA1435768719 | WFS1 | c.631+129C= (n.631+129C=) c.608+142C= c.*55C= (n.*55C=) c.382+129C= (n.382+129C=) c.430+129C= (n.430+129C=) c.228+129C= n.816+129C= c.640+129C= (n.640+129C=) | |
| 4 | g.6291496C>T | CA91794596 | WFS1 | c.631+129C>T (n.631+129C>T) c.608+142C>T c.*55C>T (n.*55C>T) c.382+129C>T (n.382+129C>T) c.430+129C>T (n.430+129C>T) c.228+129C>T n.816+129C>T c.640+129C>T (n.640+129C>T) | dbSNP gnomAD v4 |
| 4 | g.6291497T>A | CA2669826082 | WFS1 | c.631+130T>A (n.631+130T>A) c.608+143T>A c.*56T>A (n.*56T>A) c.382+130T>A (n.382+130T>A) c.430+130T>A (n.430+130T>A) c.228+130T>A n.816+130T>A c.640+130T>A (n.640+130T>A) | gnomAD v4 |
| 4 | g.6291497T>C | CA1058888830 | WFS1 | c.631+130T>C (n.631+130T>C) c.608+143T>C c.*56T>C (n.*56T>C) c.382+130T>C (n.382+130T>C) c.430+130T>C (n.430+130T>C) c.228+130T>C n.816+130T>C c.640+130T>C (n.640+130T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291497T= | CA1435768720 | WFS1 | c.631+130T= (n.631+130T=) c.608+143T= c.*56T= (n.*56T=) c.382+130T= (n.382+130T=) c.430+130T= (n.430+130T=) c.228+130T= n.816+130T= c.640+130T= (n.640+130T=) | |
| 4 | g.6291498G>A | CA1435768722 | WFS1 | c.631+131G>A (n.631+131G>A) c.608+144G>A c.*57G>A (n.*57G>A) c.382+131G>A (n.382+131G>A) c.430+131G>A (n.430+131G>A) c.228+131G>A n.816+131G>A c.640+131G>A (n.640+131G>A) | dbSNP gnomAD v4 |
| 4 | g.6291498G>C | CA2669826083 | WFS1 | c.631+131G>C (n.631+131G>C) c.608+144G>C c.*57G>C (n.*57G>C) c.382+131G>C (n.382+131G>C) c.430+131G>C (n.430+131G>C) c.228+131G>C n.816+131G>C c.640+131G>C (n.640+131G>C) | gnomAD v4 |
| 4 | g.6291498G= | CA1435768721 | WFS1 | c.631+131G= (n.631+131G=) c.608+144G= c.*57G= (n.*57G=) c.382+131G= (n.382+131G=) c.430+131G= (n.430+131G=) c.228+131G= n.816+131G= c.640+131G= (n.640+131G=) | |
| 4 | g.6291498G>T | CA549707991 | WFS1 | c.631+131G>T (n.631+131G>T) c.608+144G>T c.*57G>T (n.*57G>T) c.382+131G>T (n.382+131G>T) c.430+131G>T (n.430+131G>T) c.228+131G>T n.816+131G>T c.640+131G>T (n.640+131G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291499T>A | CA2669826084 | WFS1 | c.631+132T>A (n.631+132T>A) c.608+145T>A c.*58T>A (n.*58T>A) c.382+132T>A (n.382+132T>A) c.430+132T>A (n.430+132T>A) c.228+132T>A n.816+132T>A c.640+132T>A (n.640+132T>A) | gnomAD v4 |
| 4 | g.6291499_6291500insCCTCACA | CA2669826085 | WFS1 | c.631+132_631+133insCCTCACA (n.631+132_631+133insCCTCACA) c.608+145_608+146insCCTCACA c.*58_*59insCCTCACA (n.*58_*59insCCTCACA) c.382+132_382+133insCCTCACA (n.382+132_382+133insCCTCACA) c.430+132_430+133insCCTCACA (n.430+132_430+133insCCTCACA) c.228+132_228+133insCCTCACA n.816+132_816+133insCCTCACA c.640+132_640+133insCCTCACA (n.640+132_640+133insCCTCACA) | gnomAD v4 |
| 4 | g.6291499_6291500insCCTCACAGG | CA2669826086 | WFS1 | c.631+132_631+133insCCTCACAGG (n.631+132_631+133insCCTCACAGG) c.608+145_608+146insCCTCACAGG c.*58_*59insCCTCACAGG (n.*58_*59insCCTCACAGG) c.382+132_382+133insCCTCACAGG (n.382+132_382+133insCCTCACAGG) c.430+132_430+133insCCTCACAGG (n.430+132_430+133insCCTCACAGG) c.228+132_228+133insCCTCACAGG n.816+132_816+133insCCTCACAGG c.640+132_640+133insCCTCACAGG (n.640+132_640+133insCCTCACAGG) | gnomAD v4 |
| 4 | g.6291500G>A | CA1435768724 | WFS1 | c.631+133G>A (n.631+133G>A) c.608+146G>A c.*59G>A (n.*59G>A) c.382+133G>A (n.382+133G>A) c.430+133G>A (n.430+133G>A) c.228+133G>A n.816+133G>A c.640+133G>A (n.640+133G>A) | dbSNP gnomAD v4 |