| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.6291521_6291524del | CA2760284012 | WFS1 | c.631+154_631+157del (n.631+154_631+157del) c.608+167_608+170del c.*80_*83del (n.*80_*83del) c.382+154_382+157del (n.382+154_382+157del) c.430+154_430+157del (n.430+154_430+157del) c.228+154_228+157del n.816+154_816+157del c.640+154_640+157del (n.640+154_640+157del) | |
| 4 | g.6291530_6291537del | CA3030547169 | WFS1 | c.631+163_631+170del (n.631+163_631+170del) c.608+176_608+183del c.*89_*96del (n.*89_*96del) c.382+163_382+170del (n.382+163_382+170del) c.430+163_430+170del (n.430+163_430+170del) c.228+163_228+170del n.816+163_816+170del c.640+163_640+170del (n.640+163_640+170del) | |
| 4 | g.6291523G>A | CA2760284014 | WFS1 | c.631+156G>A (n.631+156G>A) c.608+169G>A c.*82G>A (n.*82G>A) c.382+156G>A (n.382+156G>A) c.430+156G>A (n.430+156G>A) c.228+156G>A n.816+156G>A c.640+156G>A (n.640+156G>A) | |
| 4 | g.6291523_6291524insA | CA2760284015 | WFS1 | c.631+156_631+157insA (n.631+156_631+157insA) c.608+169_608+170insA c.*82_*83insA (n.*82_*83insA) c.382+156_382+157insA (n.382+156_382+157insA) c.430+156_430+157insA (n.430+156_430+157insA) c.228+156_228+157insA n.816+156_816+157insA c.640+156_640+157insA (n.640+156_640+157insA) | |
| 4 | g.6291525A>T | CA2760284016 | WFS1 | c.631+158A>T (n.631+158A>T) c.608+171A>T c.*84A>T (n.*84A>T) c.382+158A>T (n.382+158A>T) c.430+158A>T (n.430+158A>T) c.228+158A>T n.816+158A>T c.640+158A>T (n.640+158A>T) | |
| 4 | g.6291526_6291527insACA | CA2760284017 | WFS1 | c.631+159_631+160insACA (n.631+159_631+160insACA) c.608+172_608+173insACA c.*85_*86insACA (n.*85_*86insACA) c.382+159_382+160insACA (n.382+159_382+160insACA) c.430+159_430+160insACA (n.430+159_430+160insACA) c.228+159_228+160insACA n.816+159_816+160insACA c.640+159_640+160insACA (n.640+159_640+160insACA) | |
| 4 | g.6291526_6291527insACAA | CA2760284018 | WFS1 | c.631+159_631+160insACAA (n.631+159_631+160insACAA) c.608+172_608+173insACAA c.*85_*86insACAA (n.*85_*86insACAA) c.382+159_382+160insACAA (n.382+159_382+160insACAA) c.430+159_430+160insACAA (n.430+159_430+160insACAA) c.228+159_228+160insACAA n.816+159_816+160insACAA c.640+159_640+160insACAA (n.640+159_640+160insACAA) | |
| 4 | g.6291527C>A | CA2760284019 | WFS1 | c.631+160C>A (n.631+160C>A) c.608+173C>A c.*86C>A (n.*86C>A) c.382+160C>A (n.382+160C>A) c.430+160C>A (n.430+160C>A) c.228+160C>A n.816+160C>A c.640+160C>A (n.640+160C>A) | |
| 4 | g.6291527C= | CA1435768739 | WFS1 | c.631+160C= (n.631+160C=) c.608+173C= c.*86C= (n.*86C=) c.382+160C= (n.382+160C=) c.430+160C= (n.430+160C=) c.228+160C= n.816+160C= c.640+160C= (n.640+160C=) | |
| 4 | g.6291527C>T | CA797128015 | WFS1 | c.631+160C>T (n.631+160C>T) c.608+173C>T c.*86C>T (n.*86C>T) c.382+160C>T (n.382+160C>T) c.430+160C>T (n.430+160C>T) c.228+160C>T n.816+160C>T c.640+160C>T (n.640+160C>T) | dbSNP |
| 4 | g.6291528A= | CA1435768740 | WFS1 | c.631+161A= (n.631+161A=) c.608+174A= c.*87A= (n.*87A=) c.382+161A= (n.382+161A=) c.430+161A= (n.430+161A=) c.228+161A= n.816+161A= c.640+161A= (n.640+161A=) | |
| 4 | g.6291528A>G | CA91794602 | WFS1 | c.631+161A>G (n.631+161A>G) c.608+174A>G c.*87A>G (n.*87A>G) c.382+161A>G (n.382+161A>G) c.430+161A>G (n.430+161A>G) c.228+161A>G n.816+161A>G c.640+161A>G (n.640+161A>G) | dbSNP |
| 4 | g.6291532dup | CA91794603 | WFS1 | c.631+165dup (n.631+165dup) c.608+178dup c.*91dup (n.*91dup) c.382+165dup (n.382+165dup) c.430+165dup (n.430+165dup) c.228+165dup n.816+165dup c.640+165dup (n.640+165dup) | dbSNP |
| 4 | g.6291532del | CA2760284020 | WFS1 | c.631+165del (n.631+165del) c.608+178del c.*91del (n.*91del) c.382+165del (n.382+165del) c.430+165del (n.430+165del) c.228+165del n.816+165del c.640+165del (n.640+165del) | |
| 4 | g.6291529_6291535del | CA2760284021 | WFS1 | c.631+162_631+168del (n.631+162_631+168del) c.608+175_608+181del c.*88_*94del (n.*88_*94del) c.382+162_382+168del (n.382+162_382+168del) c.430+162_430+168del (n.430+162_430+168del) c.228+162_228+168del n.816+162_816+168del c.640+162_640+168del (n.640+162_640+168del) | |
| 4 | g.6291529_6291530insACA | CA2760284022 | WFS1 | c.631+162_631+163insACA (n.631+162_631+163insACA) c.608+175_608+176insACA c.*88_*89insACA (n.*88_*89insACA) c.382+162_382+163insACA (n.382+162_382+163insACA) c.430+162_430+163insACA (n.430+162_430+163insACA) c.228+162_228+163insACA n.816+162_816+163insACA c.640+162_640+163insACA (n.640+162_640+163insACA) | |
| 4 | g.6291530_6291531insACT | CA2760284023 | WFS1 | c.631+163_631+164insACT (n.631+163_631+164insACT) c.608+176_608+177insACT c.*89_*90insACT (n.*89_*90insACT) c.382+163_382+164insACT (n.382+163_382+164insACT) c.430+163_430+164insACT (n.430+163_430+164insACT) c.228+163_228+164insACT n.816+163_816+164insACT c.640+163_640+164insACT (n.640+163_640+164insACT) | |
| 4 | g.6291531G>C | CA11805838 | WFS1 | c.631+164G>C (n.631+164G>C) c.608+177G>C c.*90G>C (n.*90G>C) c.382+164G>C (n.382+164G>C) c.430+164G>C (n.430+164G>C) c.228+164G>C n.816+164G>C c.640+164G>C (n.640+164G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291531G= | CA1435768741 | WFS1 | c.631+164G= (n.631+164G=) c.608+177G= c.*90G= (n.*90G=) c.382+164G= (n.382+164G=) c.430+164G= (n.430+164G=) c.228+164G= n.816+164G= c.640+164G= (n.640+164G=) | |
| 4 | g.6291531G>T | CA797128020 | WFS1 | c.631+164G>T (n.631+164G>T) c.608+177G>T c.*90G>T (n.*90G>T) c.382+164G>T (n.382+164G>T) c.430+164G>T (n.430+164G>T) c.228+164G>T n.816+164G>T c.640+164G>T (n.640+164G>T) | dbSNP |
| 4 | g.6291531_6291532insA | CA2760284024 | WFS1 | c.631+164_631+165insA (n.631+164_631+165insA) c.608+177_608+178insA c.*90_*91insA (n.*90_*91insA) c.382+164_382+165insA (n.382+164_382+165insA) c.430+164_430+165insA (n.430+164_430+165insA) c.228+164_228+165insA n.816+164_816+165insA c.640+164_640+165insA (n.640+164_640+165insA) | |
| 4 | g.6291533A>T | CA2505364723 | WFS1 | c.631+166A>T (n.631+166A>T) c.608+179A>T c.*92A>T (n.*92A>T) c.382+166A>T (n.382+166A>T) c.430+166A>T (n.430+166A>T) c.228+166A>T n.816+166A>T c.640+166A>T (n.640+166A>T) | |
| 4 | g.6291534_6291535del | CA2760284026 | WFS1 | c.631+167_631+168del (n.631+167_631+168del) c.608+180_608+181del c.*93_*94del (n.*93_*94del) c.382+167_382+168del (n.382+167_382+168del) c.430+167_430+168del (n.430+167_430+168del) c.228+167_228+168del n.816+167_816+168del c.640+167_640+168del (n.640+167_640+168del) | |
| 4 | g.6291535del | CA2760284025 | WFS1 | c.631+168del (n.631+168del) c.608+181del c.*94del (n.*94del) c.382+168del (n.382+168del) c.430+168del (n.430+168del) c.228+168del n.816+168del c.640+168del (n.640+168del) | |
| 4 | g.6291534_6291535insACA | CA2760284028 | WFS1 | c.631+167_631+168insACA (n.631+167_631+168insACA) c.608+180_608+181insACA c.*93_*94insACA (n.*93_*94insACA) c.382+167_382+168insACA (n.382+167_382+168insACA) c.430+167_430+168insACA (n.430+167_430+168insACA) c.228+167_228+168insACA n.816+167_816+168insACA c.640+167_640+168insACA (n.640+167_640+168insACA) | |
| 4 | g.6291535_6291538del | CA2760284029 | WFS1 | c.631+168_631+171del (n.631+168_631+171del) c.608+181_608+184del c.*94_*97del (n.*94_*97del) c.382+168_382+171del (n.382+168_382+171del) c.430+168_430+171del (n.430+168_430+171del) c.228+168_228+171del n.816+168_816+171del c.640+168_640+171del (n.640+168_640+171del) | |
| 4 | g.6291537_6291538del | CA2760284030 | WFS1 | c.631+170_631+171del (n.631+170_631+171del) c.608+183_608+184del c.*96_*97del (n.*96_*97del) c.382+170_382+171del (n.382+170_382+171del) c.430+170_430+171del (n.430+170_430+171del) c.228+170_228+171del n.816+170_816+171del c.640+170_640+171del (n.640+170_640+171del) | |
| 4 | g.6291536_6291537insC | CA2760284031 | WFS1 | c.631+169_631+170insC (n.631+169_631+170insC) c.608+182_608+183insC c.*95_*96insC (n.*95_*96insC) c.382+169_382+170insC (n.382+169_382+170insC) c.430+169_430+170insC (n.430+169_430+170insC) c.228+169_228+170insC n.816+169_816+170insC c.640+169_640+170insC (n.640+169_640+170insC) | |
| 4 | g.6291537G>C | CA2760284032 | WFS1 | c.631+170G>C (n.631+170G>C) c.608+183G>C c.*96G>C (n.*96G>C) c.382+170G>C (n.382+170G>C) c.430+170G>C (n.430+170G>C) c.228+170G>C n.816+170G>C c.640+170G>C (n.640+170G>C) | |
| 4 | g.6291537G>T | CA2760284033 | WFS1 | c.631+170G>T (n.631+170G>T) c.608+183G>T c.*96G>T (n.*96G>T) c.382+170G>T (n.382+170G>T) c.430+170G>T (n.430+170G>T) c.228+170G>T n.816+170G>T c.640+170G>T (n.640+170G>T) | |
| 4 | g.6291537_6291542delinsGAACCT | CA1435768742 | WFS1 | c.631+170_631+175delinsGAACCT (n.631+170_631+175delinsGAACCT) c.608+183_608+188delinsGAACCT c.*96_*101delinsGAACCT (n.*96_*101delinsGAACCT) c.382+170_382+175delinsGAACCT (n.382+170_382+175delinsGAACCT) c.430+170_430+175delinsGAACCT (n.430+170_430+175delinsGAACCT) c.228+170_228+175delinsGAACCT n.816+170_816+175delinsGAACCT c.640+170_640+175delinsGAACCT (n.640+170_640+175delinsGAACCT) | |
| 4 | g.6291538A= | CA1435768744 | WFS1 | c.631+171A= (n.631+171A=) c.608+184A= c.*97A= (n.*97A=) c.382+171A= (n.382+171A=) c.430+171A= (n.430+171A=) c.228+171A= n.816+171A= c.640+171A= (n.640+171A=) | |
| 4 | g.6291538A>G | CA1435768743 | WFS1 | c.631+171A>G (n.631+171A>G) c.608+184A>G c.*97A>G (n.*97A>G) c.382+171A>G (n.382+171A>G) c.430+171A>G (n.430+171A>G) c.228+171A>G n.816+171A>G c.640+171A>G (n.640+171A>G) | dbSNP |
| 4 | g.6291538A>T | CA2760284034 | WFS1 | c.631+171A>T (n.631+171A>T) c.608+184A>T c.*97A>T (n.*97A>T) c.382+171A>T (n.382+171A>T) c.430+171A>T (n.430+171A>T) c.228+171A>T n.816+171A>T c.640+171A>T (n.640+171A>T) | |
| 4 | g.6291538_6291542del | CA549707994 | WFS1 | c.631+171_631+175del (n.631+171_631+175del) c.608+184_608+188del c.*97_*101del (n.*97_*101del) c.382+171_382+175del (n.382+171_382+175del) c.430+171_430+175del (n.430+171_430+175del) c.228+171_228+175del n.816+171_816+175del c.640+171_640+175del (n.640+171_640+175del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.6291539A= | CA1435768745 | WFS1 | c.631+172A= (n.631+172A=) c.608+185A= c.*98A= (n.*98A=) c.382+172A= (n.382+172A=) c.430+172A= (n.430+172A=) c.228+172A= n.816+172A= c.640+172A= (n.640+172A=) | |
| 4 | g.6291539A>G | CA797128028 | WFS1 | c.631+172A>G (n.631+172A>G) c.608+185A>G c.*98A>G (n.*98A>G) c.382+172A>G (n.382+172A>G) c.430+172A>G (n.430+172A>G) c.228+172A>G n.816+172A>G c.640+172A>G (n.640+172A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291540_6291548del | CA2760284036 | WFS1 | c.631+173_631+181del (n.631+173_631+181del) c.608+186_608+194del c.*99_*107del (n.*99_*107del) c.382+173_382+181del (n.382+173_382+181del) c.430+173_430+181del (n.430+173_430+181del) c.228+173_228+181del n.816+173_816+181del c.640+173_640+181del (n.640+173_640+181del) | |
| 4 | g.6291540_6291541insA | CA2760284040 | WFS1 | c.631+173_631+174insA (n.631+173_631+174insA) c.608+186_608+187insA c.*99_*100insA (n.*99_*100insA) c.382+173_382+174insA (n.382+173_382+174insA) c.430+173_430+174insA (n.430+173_430+174insA) c.228+173_228+174insA n.816+173_816+174insA c.640+173_640+174insA (n.640+173_640+174insA) | |
| 4 | g.6291540_6291541insACA | CA2760284037 | WFS1 | c.631+173_631+174insACA (n.631+173_631+174insACA) c.608+186_608+187insACA c.*99_*100insACA (n.*99_*100insACA) c.382+173_382+174insACA (n.382+173_382+174insACA) c.430+173_430+174insACA (n.430+173_430+174insACA) c.228+173_228+174insACA n.816+173_816+174insACA c.640+173_640+174insACA (n.640+173_640+174insACA) | |
| 4 | g.6291541C>A | CA2760284038 | WFS1 | c.631+174C>A (n.631+174C>A) c.608+187C>A c.*100C>A (n.*100C>A) c.382+174C>A (n.382+174C>A) c.430+174C>A (n.430+174C>A) c.228+174C>A n.816+174C>A c.640+174C>A (n.640+174C>A) | |
| 4 | g.6291541_6291548del | CA2760284039 | WFS1 | c.631+174_631+181del (n.631+174_631+181del) c.608+187_608+194del c.*100_*107del (n.*100_*107del) c.382+174_382+181del (n.382+174_382+181del) c.430+174_430+181del (n.430+174_430+181del) c.228+174_228+181del n.816+174_816+181del c.640+174_640+181del (n.640+174_640+181del) | |
| 4 | g.6291541_6291542insA | CA2760284041 | WFS1 | c.631+174_631+175insA (n.631+174_631+175insA) c.608+187_608+188insA c.*100_*101insA (n.*100_*101insA) c.382+174_382+175insA (n.382+174_382+175insA) c.430+174_430+175insA (n.430+174_430+175insA) c.228+174_228+175insA n.816+174_816+175insA c.640+174_640+175insA (n.640+174_640+175insA) | |
| 4 | g.6291541_6291542insAG | CA2760284042 | WFS1 | c.631+174_631+175insAG (n.631+174_631+175insAG) c.608+187_608+188insAG c.*100_*101insAG (n.*100_*101insAG) c.382+174_382+175insAG (n.382+174_382+175insAG) c.430+174_430+175insAG (n.430+174_430+175insAG) c.228+174_228+175insAG n.816+174_816+175insAG c.640+174_640+175insAG (n.640+174_640+175insAG) | |
| 4 | g.6291542T>A | CA2760284045 | WFS1 | c.631+175T>A (n.631+175T>A) c.608+188T>A c.*101T>A (n.*101T>A) c.382+175T>A (n.382+175T>A) c.430+175T>A (n.430+175T>A) c.228+175T>A n.816+175T>A c.640+175T>A (n.640+175T>A) | |
| 4 | g.6291542T>C | CA2591901875 | WFS1 | c.631+175T>C (n.631+175T>C) c.608+188T>C c.*101T>C (n.*101T>C) c.382+175T>C (n.382+175T>C) c.430+175T>C (n.430+175T>C) c.228+175T>C n.816+175T>C c.640+175T>C (n.640+175T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.6291542_6291543del | CA2760284043 | WFS1 | c.631+175_631+176del (n.631+175_631+176del) c.608+188_608+189del c.*101_*102del (n.*101_*102del) c.382+175_382+176del (n.382+175_382+176del) c.430+175_430+176del (n.430+175_430+176del) c.228+175_228+176del n.816+175_816+176del c.640+175_640+176del (n.640+175_640+176del) |