Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302357C>A | CA438211513 | WFS1 | c.2598C>A (p.Leu866=) c.2539C>A c.2562C>A (p.Leu854=) c.2313C>A (p.Leu771=) n.2747C>A c.2571C>A (p.Leu857=) | gnomAD v4 |
4 | g.6302357C= | CA1435772667 | WFS1 | c.2598C= (p.Leu866=) c.2539C= c.2562C= (p.Leu854=) c.2313C= (p.Leu771=) n.2747C= c.2571C= (p.Leu857=) | |
4 | g.6302357C>G | CA438211514 | WFS1 | c.2598C>G (p.Leu866=) c.2539C>G c.2562C>G (p.Leu854=) c.2313C>G (p.Leu771=) n.2747C>G c.2571C>G (p.Leu857=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302357C>T | CA438211515 | WFS1 | c.2598C>T (p.Leu866=) c.2539C>T c.2562C>T (p.Leu854=) c.2313C>T (p.Leu771=) n.2747C>T c.2571C>T (p.Leu857=) | gnomAD v4 |
4 | g.6302357_6302359del | CA2760271242 | WFS1 | c.2598_2600del (p.Ser867del) c.2539_2541del c.2562_2564del (p.Ser855del) c.2313_2315del (p.Ser772del) n.2747_2749del c.2571_2573del (p.Ser858del) | |
4 | g.6302358T>A | CA356179241 | WFS1 | c.2599T>A (p.Ser867Thr) c.2540T>A c.2563T>A (p.Ser855Thr) c.2314T>A (p.Ser772Thr) n.2748T>A c.2572T>A (p.Ser858Thr) | |
4 | g.6302358T>C | CA2839780 | WFS1 | c.2599T>C (p.Ser867Pro) c.2540T>C c.2563T>C (p.Ser855Pro) c.2314T>C (p.Ser772Pro) n.2748T>C c.2572T>C (p.Ser858Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302358T>G | CA356179243 | WFS1 | c.2599T>G (p.Ser867Ala) c.2540T>G c.2563T>G (p.Ser855Ala) c.2314T>G (p.Ser772Ala) n.2748T>G c.2572T>G (p.Ser858Ala) | |
4 | g.6302358T= | CA1435772670 | WFS1 | c.2599T= (p.Ser867=) c.2540T= c.2563T= (p.Ser855=) c.2314T= (p.Ser772=) n.2748T= c.2572T= (p.Ser858=) | |
4 | g.6302358_6302360delinsCCG | CA891862708 | WFS1 | c.2599_2601delinsCCG (p.Ser867Pro) c.2540_2542delinsCCG c.2563_2565delinsCCG (p.Ser855Pro) c.2314_2316delinsCCG (p.Ser772Pro) n.2748_2750delinsCCG c.2572_2574delinsCCG (p.Ser858Pro) | ClinVar dbSNP |
4 | g.6302358_6302360delinsTCA | CA1435772672 | WFS1 | c.2599_2601delinsTCA (p.Ser867=) c.2540_2542delinsTCA c.2563_2565delinsTCA (p.Ser855=) c.2314_2316delinsTCA (p.Ser772=) n.2748_2750delinsTCA c.2572_2574delinsTCA (p.Ser858=) | |
4 | g.6302359C>A | CA356179245 | WFS1 | c.2600C>A (p.Ser867Ter) c.2541C>A c.2564C>A (p.Ser855Ter) c.2315C>A (p.Ser772Ter) n.2749C>A c.2573C>A (p.Ser858Ter) | |
4 | g.6302359C= | CA1435772674 | WFS1 | c.2600C= (p.Ser867=) c.2541C= c.2564C= (p.Ser855=) c.2315C= (p.Ser772=) n.2749C= c.2573C= (p.Ser858=) | |
4 | g.6302359C>G | CA356179247 | WFS1 | c.2600C>G (p.Ser867Ter) c.2541C>G c.2564C>G (p.Ser855Ter) c.2315C>G (p.Ser772Ter) n.2749C>G c.2573C>G (p.Ser858Ter) | |
4 | g.6302359C>T | CA2839781 | WFS1 | c.2600C>T (p.Ser867Leu) c.2541C>T c.2564C>T (p.Ser855Leu) c.2315C>T (p.Ser772Leu) n.2749C>T c.2573C>T (p.Ser858Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302359_6302360delinsTG | CA2573138345 | WFS1 | c.2600_2601delinsTG (p.Ser867Leu) c.2541_2542delinsTG c.2564_2565delinsTG (p.Ser855Leu) c.2315_2316delinsTG (p.Ser772Leu) n.2749_2750delinsTG c.2573_2574delinsTG (p.Ser858Leu) | ClinVar |
4 | g.6302360A= | CA1435772676 | WFS1 | c.2601A= (p.Ser867=) c.2542A= c.2565A= (p.Ser855=) c.2316A= (p.Ser772=) n.2750A= c.2574A= (p.Ser858=) | |
4 | g.6302360A>C | CA438211516 | WFS1 | c.2601A>C (p.Ser867=) c.2542A>C c.2565A>C (p.Ser855=) c.2316A>C (p.Ser772=) n.2750A>C c.2574A>C (p.Ser858=) | dbSNP |
4 | g.6302360A>G | CA136356 | WFS1 | c.2601A>G (p.Ser867=) c.2542A>G c.2565A>G (p.Ser855=) c.2316A>G (p.Ser772=) n.2750A>G c.2574A>G (p.Ser858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302360A>T | CA2839782 | WFS1 | c.2601A>T (p.Ser867=) c.2542A>T c.2565A>T (p.Ser855=) c.2316A>T (p.Ser772=) n.2750A>T c.2574A>T (p.Ser858=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302360dup | CA2669843473 | WFS1 | c.2601dup (p.Pro868ThrfsTer?) c.2542dup c.2565dup (p.Pro856ThrfsTer?) c.2316dup (p.Pro773ThrfsTer?) n.2750dup c.2574dup (p.Pro859ThrfsTer?) | gnomAD v4 |
4 | g.6302361C>A | CA356179250 | WFS1 | c.2602C>A (p.Pro868Thr) c.2543C>A c.2566C>A (p.Pro856Thr) c.2317C>A (p.Pro773Thr) n.2751C>A c.2575C>A (p.Pro859Thr) | |
4 | g.6302361C>G | CA356179254 | WFS1 | c.2602C>G (p.Pro868Ala) c.2543C>G c.2566C>G (p.Pro856Ala) c.2317C>G (p.Pro773Ala) n.2751C>G c.2575C>G (p.Pro859Ala) | |
4 | g.6302361C>T | CA356179251 | WFS1 | c.2602C>T (p.Pro868Ser) c.2543C>T c.2566C>T (p.Pro856Ser) c.2317C>T (p.Pro773Ser) n.2751C>T c.2575C>T (p.Pro859Ser) | |
4 | g.6302362C>A | CA356179256 | WFS1 | c.2603C>A (p.Pro868His) c.2544C>A c.2567C>A (p.Pro856His) c.2318C>A (p.Pro773His) n.2752C>A c.2576C>A (p.Pro859His) | |
4 | g.6302362C= | CA1435772679 | WFS1 | c.2603C= (p.Pro868=) c.2544C= c.2567C= (p.Pro856=) c.2318C= (p.Pro773=) n.2752C= c.2576C= (p.Pro859=) | |
4 | g.6302362C>G | CA356179259 | WFS1 | c.2603C>G (p.Pro868Arg) c.2544C>G c.2567C>G (p.Pro856Arg) c.2318C>G (p.Pro773Arg) n.2752C>G c.2576C>G (p.Pro859Arg) | ClinVar |
4 | g.6302362C>T | CA2839783 | WFS1 | c.2603C>T (p.Pro868Leu) c.2544C>T c.2567C>T (p.Pro856Leu) c.2318C>T (p.Pro773Leu) n.2752C>T c.2576C>T (p.Pro859Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302363C>A | CA438211517 | WFS1 | c.2604C>A (p.Pro868=) c.2545C>A c.2568C>A (p.Pro856=) c.2319C>A (p.Pro773=) n.2753C>A c.2577C>A (p.Pro859=) | |
4 | g.6302363C>G | CA438211518 | WFS1 | c.2604C>G (p.Pro868=) c.2545C>G c.2568C>G (p.Pro856=) c.2319C>G (p.Pro773=) n.2753C>G c.2577C>G (p.Pro859=) | |
4 | g.6302363C>T | CA438211519 | WFS1 | c.2604C>T (p.Pro868=) c.2545C>T c.2568C>T (p.Pro856=) c.2319C>T (p.Pro773=) n.2753C>T c.2577C>T (p.Pro859=) | gnomAD v4 |
4 | g.6302364A= | CA1435772680 | WFS1 | c.2605A= (p.Thr869=) c.2546A= c.2569A= (p.Thr857=) c.2320A= (p.Thr774=) n.2754A= c.2578A= (p.Thr860=) | |
4 | g.6302364A>C | CA356179261 | WFS1 | c.2605A>C (p.Thr869Pro) c.2546A>C c.2569A>C (p.Thr857Pro) c.2320A>C (p.Thr774Pro) n.2754A>C c.2578A>C (p.Thr860Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302364A>G | CA356179262 | WFS1 | c.2605A>G (p.Thr869Ala) c.2546A>G c.2569A>G (p.Thr857Ala) c.2320A>G (p.Thr774Ala) n.2754A>G c.2578A>G (p.Thr860Ala) | |
4 | g.6302364A>T | CA356179264 | WFS1 | c.2605A>T (p.Thr869Ser) c.2546A>T c.2569A>T (p.Thr857Ser) c.2320A>T (p.Thr774Ser) n.2754A>T c.2578A>T (p.Thr860Ser) | |
4 | g.6302365C>A | CA356179266 | WFS1 | c.2606C>A (p.Thr869Asn) c.2547C>A c.2570C>A (p.Thr857Asn) c.2321C>A (p.Thr774Asn) n.2755C>A c.2579C>A (p.Thr860Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302365C= | CA1435772682 | WFS1 | c.2606C= (p.Thr869=) c.2547C= c.2570C= (p.Thr857=) c.2321C= (p.Thr774=) n.2755C= c.2579C= (p.Thr860=) | |
4 | g.6302365C>G | CA356179267 | WFS1 | c.2606C>G (p.Thr869Ser) c.2547C>G c.2570C>G (p.Thr857Ser) c.2321C>G (p.Thr774Ser) n.2755C>G c.2579C>G (p.Thr860Ser) | gnomAD v4 |
4 | g.6302365C>T | CA2839784 | WFS1 | c.2606C>T (p.Thr869Ile) c.2547C>T c.2570C>T (p.Thr857Ile) c.2321C>T (p.Thr774Ile) n.2755C>T c.2579C>T (p.Thr860Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302366C>A | CA438211521 | WFS1 | c.2607C>A (p.Thr869=) c.2548C>A c.2571C>A (p.Thr857=) c.2322C>A (p.Thr774=) n.2756C>A c.2580C>A (p.Thr860=) | dbSNP gnomAD v2 |
4 | g.6302366C= | CA1435772683 | WFS1 | c.2607C= (p.Thr869=) c.2548C= c.2571C= (p.Thr857=) c.2322C= (p.Thr774=) n.2756C= c.2580C= (p.Thr860=) | |
4 | g.6302366C>G | CA438211522 | WFS1 | c.2607C>G (p.Thr869=) c.2548C>G c.2571C>G (p.Thr857=) c.2322C>G (p.Thr774=) n.2756C>G c.2580C>G (p.Thr860=) | |
4 | g.6302366C>T | CA91797834 | WFS1 | c.2607C>T (p.Thr869=) c.2548C>T c.2571C>T (p.Thr857=) c.2322C>T (p.Thr774=) n.2756C>T c.2580C>T (p.Thr860=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302367A>C | CA438211524 | WFS1 | c.2608A>C (p.Arg870=) c.2549A>C c.2572A>C (p.Arg858=) c.2323A>C (p.Arg775=) n.2757A>C c.2581A>C (p.Arg861=) | |
4 | g.6302367A>G | CA356179270 | WFS1 | c.2608A>G (p.Arg870Gly) c.2549A>G c.2572A>G (p.Arg858Gly) c.2323A>G (p.Arg775Gly) n.2757A>G c.2581A>G (p.Arg861Gly) | gnomAD v4 |
4 | g.6302367A>T | CA356179271 | WFS1 | c.2608A>T (p.Arg870Trp) c.2549A>T c.2572A>T (p.Arg858Trp) c.2323A>T (p.Arg775Trp) n.2757A>T c.2581A>T (p.Arg861Trp) | |
4 | g.6302368G>A | CA2839785 | WFS1 | c.2609G>A (p.Arg870Lys) c.2550G>A c.2573G>A (p.Arg858Lys) c.2324G>A (p.Arg775Lys) n.2758G>A c.2582G>A (p.Arg861Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302368G>C | CA356179273 | WFS1 | c.2609G>C (p.Arg870Thr) c.2550G>C c.2573G>C (p.Arg858Thr) c.2324G>C (p.Arg775Thr) n.2758G>C c.2582G>C (p.Arg861Thr) | gnomAD v4 |
4 | g.6302368G= | CA1435772685 | WFS1 | c.2609G= (p.Arg870=) c.2550G= c.2573G= (p.Arg858=) c.2324G= (p.Arg775=) n.2758G= c.2582G= (p.Arg861=) | |
4 | g.6302368G>T | CA356179275 | WFS1 | c.2609G>T (p.Arg870Met) c.2550G>T c.2573G>T (p.Arg858Met) c.2324G>T (p.Arg775Met) n.2758G>T c.2582G>T (p.Arg861Met) | gnomAD v4 |
4 | g.6302369G>A | CA438211525 | WFS1 | c.2610G>A (p.Arg870=) c.2551G>A c.2574G>A (p.Arg858=) c.2325G>A (p.Arg775=) n.2759G>A c.2583G>A (p.Arg861=) | dbSNP |
4 | g.6302369G>C | CA356179277 | WFS1 | c.2610G>C (p.Arg870Ser) c.2551G>C c.2574G>C (p.Arg858Ser) c.2325G>C (p.Arg775Ser) n.2759G>C c.2583G>C (p.Arg861Ser) | |
4 | g.6302369G= | CA1435772686 | WFS1 | c.2610G= (p.Arg870=) c.2551G= c.2574G= (p.Arg858=) c.2325G= (p.Arg775=) n.2759G= c.2583G= (p.Arg861=) | |
4 | g.6302369G>T | CA356179278 | WFS1 | c.2610G>T (p.Arg870Ser) c.2551G>T c.2574G>T (p.Arg858Ser) c.2325G>T (p.Arg775Ser) n.2759G>T c.2583G>T (p.Arg861Ser) | dbSNP gnomAD v2 |
4 | g.6302370del | CA2841725583 | WFS1 | c.2611del (p.Arg871GlyfsTer3) c.2552del c.2575del (p.Arg859GlyfsTer3) c.2326del (p.Arg776GlyfsTer3) n.2760del c.2584del (p.Arg862GlyfsTer3) | |
4 | g.6302370C>A | CA10576642 | WFS1 | c.2611C>A (p.Arg871=) c.2552C>A c.2575C>A (p.Arg859=) c.2326C>A (p.Arg776=) n.2760C>A c.2584C>A (p.Arg862=) | ClinVar dbSNP |
4 | g.6302370C= | CA1435772688 | WFS1 | c.2611C= (p.Arg871=) c.2552C= c.2575C= (p.Arg859=) c.2326C= (p.Arg776=) n.2760C= c.2584C= (p.Arg862=) | |
4 | g.6302370C>G | CA356179281 | WFS1 | c.2611C>G (p.Arg871Gly) c.2552C>G c.2575C>G (p.Arg859Gly) c.2326C>G (p.Arg776Gly) n.2760C>G c.2584C>G (p.Arg862Gly) | |
4 | g.6302370C>T | CA2839786 | WFS1 | c.2611C>T (p.Arg871Trp) c.2552C>T c.2575C>T (p.Arg859Trp) c.2326C>T (p.Arg776Trp) n.2760C>T c.2584C>T (p.Arg862Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302371G>A | CA253207 | WFS1 | c.2612G>A (p.Arg871Gln) c.2553G>A c.2576G>A (p.Arg859Gln) c.2327G>A (p.Arg776Gln) n.2761G>A c.2585G>A (p.Arg862Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302371G>C | CA356179282 | WFS1 | c.2612G>C (p.Arg871Pro) c.2553G>C c.2576G>C (p.Arg859Pro) c.2327G>C (p.Arg776Pro) n.2761G>C c.2585G>C (p.Arg862Pro) | |
4 | g.6302371G= | CA1435772691 | WFS1 | c.2612G= (p.Arg871=) c.2553G= c.2576G= (p.Arg859=) c.2327G= (p.Arg776=) n.2761G= c.2585G= (p.Arg862=) | |
4 | g.6302371G>T | CA356179283 | WFS1 | c.2612G>T (p.Arg871Leu) c.2553G>T c.2576G>T (p.Arg859Leu) c.2327G>T (p.Arg776Leu) n.2761G>T c.2585G>T (p.Arg862Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302372G>A | CA438211527 | WFS1 | c.2613G>A (p.Arg871=) c.2554G>A c.2577G>A (p.Arg859=) c.2328G>A (p.Arg776=) n.2762G>A c.2586G>A (p.Arg862=) | dbSNP gnomAD v2 |
4 | g.6302372G>C | CA438211528 | WFS1 | c.2613G>C (p.Arg871=) c.2554G>C c.2577G>C (p.Arg859=) c.2328G>C (p.Arg776=) n.2762G>C c.2586G>C (p.Arg862=) | |
4 | g.6302372G= | CA1435772693 | WFS1 | c.2613G= (p.Arg871=) c.2554G= c.2577G= (p.Arg859=) c.2328G= (p.Arg776=) n.2762G= c.2586G= (p.Arg862=) | |
4 | g.6302372G>T | CA438211530 | WFS1 | c.2613G>T (p.Arg871=) c.2554G>T c.2577G>T (p.Arg859=) c.2328G>T (p.Arg776=) n.2762G>T c.2586G>T (p.Arg862=) | |
4 | g.6302373C>A | CA356179285 | WFS1 | c.2614C>A (p.His872Asn) c.2555C>A c.2578C>A (p.His860Asn) c.2329C>A (p.His777Asn) n.2763C>A c.2587C>A (p.His863Asn) | |
4 | g.6302373C= | CA1435772694 | WFS1 | c.2614C= (p.His872=) c.2555C= c.2578C= (p.His860=) c.2329C= (p.His777=) n.2763C= c.2587C= (p.His863=) | |
4 | g.6302373C>G | CA356179286 | WFS1 | c.2614C>G (p.His872Asp) c.2555C>G c.2578C>G (p.His860Asp) c.2329C>G (p.His777Asp) n.2763C>G c.2587C>G (p.His863Asp) | |
4 | g.6302373C>T | CA356179287 | WFS1 | c.2614C>T (p.His872Tyr) c.2555C>T c.2578C>T (p.His860Tyr) c.2329C>T (p.His777Tyr) n.2763C>T c.2587C>T (p.His863Tyr) | dbSNP COSMIC |
4 | g.6302373_6302384del | CA2580617581 | WFS1 | c.2614_2625del (p.His872_Ile875del) c.2555_2566del c.2578_2589del (p.His860_Ile863del) c.2329_2340del (p.His777_Ile780del) n.2763_2774del c.2587_2598del (p.His863_Ile866del) | |
4 | g.6302374A>C | CA356179289 | WFS1 | c.2615A>C (p.His872Pro) c.2556A>C c.2579A>C (p.His860Pro) c.2330A>C (p.His777Pro) n.2764A>C c.2588A>C (p.His863Pro) | |
4 | g.6302374A>G | CA356179291 | WFS1 | c.2615A>G (p.His872Arg) c.2556A>G c.2579A>G (p.His860Arg) c.2330A>G (p.His777Arg) n.2764A>G c.2588A>G (p.His863Arg) | |
4 | g.6302374A>T | CA356179294 | WFS1 | c.2615A>T (p.His872Leu) c.2556A>T c.2579A>T (p.His860Leu) c.2330A>T (p.His777Leu) n.2764A>T c.2588A>T (p.His863Leu) | |
4 | g.6302375C>A | CA2839787 | WFS1 | c.2616C>A (p.His872Gln) c.2557C>A c.2580C>A (p.His860Gln) c.2331C>A (p.His777Gln) n.2765C>A c.2589C>A (p.His863Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302375C= | CA1435772696 | WFS1 | c.2616C= (p.His872=) c.2557C= c.2580C= (p.His860=) c.2331C= (p.His777=) n.2765C= c.2589C= (p.His863=) | |
4 | g.6302375C>G | CA16621817 | WFS1 | c.2616C>G (p.His872Gln) c.2557C>G c.2580C>G (p.His860Gln) c.2331C>G (p.His777Gln) n.2765C>G c.2589C>G (p.His863Gln) | ClinVar dbSNP gnomAD v4 |
4 | g.6302375C>T | CA2839788 | WFS1 | c.2616C>T (p.His872=) c.2557C>T c.2580C>T (p.His860=) c.2331C>T (p.His777=) n.2765C>T c.2589C>T (p.His863=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302376G>A | CA2839789 | WFS1 | c.2617G>A (p.Val873Met) c.2558G>A c.2581G>A (p.Val861Met) c.2332G>A (p.Val778Met) n.2766G>A c.2590G>A (p.Val864Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302376G>C | CA356179296 | WFS1 | c.2617G>C (p.Val873Leu) c.2558G>C c.2581G>C (p.Val861Leu) c.2332G>C (p.Val778Leu) n.2766G>C c.2590G>C (p.Val864Leu) | gnomAD v4 |
4 | g.6302376G= | CA1435772699 | WFS1 | c.2617G= (p.Val873=) c.2558G= c.2581G= (p.Val861=) c.2332G= (p.Val778=) n.2766G= c.2590G= (p.Val864=) | |
4 | g.6302376G>T | CA356179298 | WFS1 | c.2617G>T (p.Val873Leu) c.2558G>T c.2581G>T (p.Val861Leu) c.2332G>T (p.Val778Leu) n.2766G>T c.2590G>T (p.Val864Leu) | gnomAD v4 |
4 | g.6302377T>A | CA356179299 | WFS1 | c.2618T>A (p.Val873Glu) c.2559T>A c.2582T>A (p.Val861Glu) c.2333T>A (p.Val778Glu) n.2767T>A c.2591T>A (p.Val864Glu) | dbSNP |
4 | g.6302377T>C | CA356179301 | WFS1 | c.2618T>C (p.Val873Ala) c.2559T>C c.2582T>C (p.Val861Ala) c.2333T>C (p.Val778Ala) n.2767T>C c.2591T>C (p.Val864Ala) | |
4 | g.6302377T>G | CA321956 | WFS1 | c.2618T>G (p.Val873Gly) c.2559T>G c.2582T>G (p.Val861Gly) c.2333T>G (p.Val778Gly) n.2767T>G c.2591T>G (p.Val864Gly) | dbSNP COSMIC |
4 | g.6302377T= | CA1435772701 | WFS1 | c.2618T= (p.Val873=) c.2559T= c.2582T= (p.Val861=) c.2333T= (p.Val778=) n.2767T= c.2591T= (p.Val864=) | |
4 | g.6302378G>A | CA2839790 | WFS1 | c.2619G>A (p.Val873=) c.2560G>A c.2583G>A (p.Val861=) c.2334G>A (p.Val778=) n.2768G>A c.2592G>A (p.Val864=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302378G>C | CA438211534 | WFS1 | c.2619G>C (p.Val873=) c.2560G>C c.2583G>C (p.Val861=) c.2334G>C (p.Val778=) n.2768G>C c.2592G>C (p.Val864=) | |
4 | g.6302378G= | CA1435772702 | WFS1 | c.2619G= (p.Val873=) c.2560G= c.2583G= (p.Val861=) c.2334G= (p.Val778=) n.2768G= c.2592G= (p.Val864=) | |
4 | g.6302378G>T | CA438211535 | WFS1 | c.2619G>T (p.Val873=) c.2560G>T c.2583G>T (p.Val861=) c.2334G>T (p.Val778=) n.2768G>T c.2592G>T (p.Val864=) | |
4 | g.6302380_6302382del | CA2739270018 | WFS1 | c.2621_2623del (p.Lys874del) c.2562_2564del c.2585_2587del (p.Lys862del) c.2336_2338del (p.Lys779del) n.2770_2772del c.2594_2596del (p.Lys865del) | ClinVar |
4 | g.6302379A= | CA1435772704 | WFS1 | c.2620A= (p.Lys874=) c.2561A= c.2584A= (p.Lys862=) c.2335A= (p.Lys779=) n.2769A= c.2593A= (p.Lys865=) | |
4 | g.6302379A>C | CA356179307 | WFS1 | c.2620A>C (p.Lys874Gln) c.2561A>C c.2584A>C (p.Lys862Gln) c.2335A>C (p.Lys779Gln) n.2769A>C c.2593A>C (p.Lys865Gln) | |
4 | g.6302379A>G | CA356179313 | WFS1 | c.2620A>G (p.Lys874Glu) c.2561A>G c.2584A>G (p.Lys862Glu) c.2335A>G (p.Lys779Glu) n.2769A>G c.2593A>G (p.Lys865Glu) | gnomAD v4 |
4 | g.6302379A>T | CA2839791 | WFS1 | c.2620A>T (p.Lys874Ter) c.2561A>T c.2584A>T (p.Lys862Ter) c.2335A>T (p.Lys779Ter) n.2769A>T c.2593A>T (p.Lys865Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302380A= | CA1435772705 | WFS1 | c.2621A= (p.Lys874=) c.2562A= c.2585A= (p.Lys862=) c.2336A= (p.Lys779=) n.2770A= c.2594A= (p.Lys865=) | |
4 | g.6302380A>C | CA356179319 | WFS1 | c.2621A>C (p.Lys874Thr) c.2562A>C c.2585A>C (p.Lys862Thr) c.2336A>C (p.Lys779Thr) n.2770A>C c.2594A>C (p.Lys865Thr) | dbSNP |
4 | g.6302380A>G | CA356179320 | WFS1 | c.2621A>G (p.Lys874Arg) c.2562A>G c.2585A>G (p.Lys862Arg) c.2336A>G (p.Lys779Arg) n.2770A>G c.2594A>G (p.Lys865Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302380A>T | CA356179321 | WFS1 | c.2621A>T (p.Lys874Met) c.2562A>T c.2585A>T (p.Lys862Met) c.2336A>T (p.Lys779Met) n.2770A>T c.2594A>T (p.Lys865Met) | |
4 | g.6302381G>A | CA2839792 | WFS1 | c.2622G>A (p.Lys874=) c.2563G>A c.2586G>A (p.Lys862=) c.2337G>A (p.Lys779=) n.2771G>A c.2595G>A (p.Lys865=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302381G>C | CA356179323 | WFS1 | c.2622G>C (p.Lys874Asn) c.2563G>C c.2586G>C (p.Lys862Asn) c.2337G>C (p.Lys779Asn) n.2771G>C c.2595G>C (p.Lys865Asn) | |
4 | g.6302381G= | CA1435772706 | WFS1 | c.2622G= (p.Lys874=) c.2563G= c.2586G= (p.Lys862=) c.2337G= (p.Lys779=) n.2771G= c.2595G= (p.Lys865=) | |
4 | g.6302381G>T | CA356179325 | WFS1 | c.2622G>T (p.Lys874Asn) c.2563G>T c.2586G>T (p.Lys862Asn) c.2337G>T (p.Lys779Asn) n.2771G>T c.2595G>T (p.Lys865Asn) | ClinVar dbSNP gnomAD v4 |
4 | g.6302382A= | CA1435772707 | WFS1 | c.2623A= (p.Ile875=) c.2564A= c.2587A= (p.Ile863=) c.2338A= (p.Ile780=) n.2772A= c.2596A= (p.Ile866=) | |
4 | g.6302382A>C | CA356179328 | WFS1 | c.2623A>C (p.Ile875Leu) c.2564A>C c.2587A>C (p.Ile863Leu) c.2338A>C (p.Ile780Leu) n.2772A>C c.2596A>C (p.Ile866Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302382A>G | CA356179330 | WFS1 | c.2623A>G (p.Ile875Val) c.2564A>G c.2587A>G (p.Ile863Val) c.2338A>G (p.Ile780Val) n.2772A>G c.2596A>G (p.Ile866Val) | dbSNP |
4 | g.6302382A>T | CA356179333 | WFS1 | c.2623A>T (p.Ile875Phe) c.2564A>T c.2587A>T (p.Ile863Phe) c.2338A>T (p.Ile780Phe) n.2772A>T c.2596A>T (p.Ile866Phe) | |
4 | g.6302383T>A | CA356179341 | WFS1 | c.2624T>A (p.Ile875Asn) c.2565T>A c.2588T>A (p.Ile863Asn) c.2339T>A (p.Ile780Asn) n.2773T>A c.2597T>A (p.Ile866Asn) | gnomAD v4 |
4 | g.6302383T>C | CA91797851 | WFS1 | c.2624T>C (p.Ile875Thr) c.2565T>C c.2588T>C (p.Ile863Thr) c.2339T>C (p.Ile780Thr) n.2773T>C c.2597T>C (p.Ile866Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302383T>G | CA356179345 | WFS1 | c.2624T>G (p.Ile875Ser) c.2565T>G c.2588T>G (p.Ile863Ser) c.2339T>G (p.Ile780Ser) n.2773T>G c.2597T>G (p.Ile866Ser) | |
4 | g.6302383T= | CA1435772709 | WFS1 | c.2624T= (p.Ile875=) c.2565T= c.2588T= (p.Ile863=) c.2339T= (p.Ile780=) n.2773T= c.2597T= (p.Ile866=) | |
4 | g.6302384C>A | CA2839795 | WFS1 | c.2625C>A (p.Ile875=) c.2566C>A c.2589C>A (p.Ile863=) c.2340C>A (p.Ile780=) n.2774C>A c.2598C>A (p.Ile866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302384C= | CA1435772710 | WFS1 | c.2625C= (p.Ile875=) c.2566C= c.2589C= (p.Ile863=) c.2340C= (p.Ile780=) n.2774C= c.2598C= (p.Ile866=) | |
4 | g.6302384C>G | CA2839794 | WFS1 | c.2625C>G (p.Ile875Met) c.2566C>G c.2589C>G (p.Ile863Met) c.2340C>G (p.Ile780Met) n.2774C>G c.2598C>G (p.Ile866Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302384C>T | CA2839793 | WFS1 | c.2625C>T (p.Ile875=) c.2566C>T c.2589C>T (p.Ile863=) c.2340C>T (p.Ile780=) n.2774C>T c.2598C>T (p.Ile866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302384_6302385insTCG | CA1058892867 | WFS1 | c.2625_2626insTCG (p.Ile875_Glu876insSer) c.2566_2567insTCG c.2589_2590insTCG (p.Ile863_Glu864insSer) c.2340_2341insTCG (p.Ile780_Glu781insSer) n.2774_2775insTCG c.2598_2599insTCG (p.Ile866_Glu867insSer) | gnomAD v3 gnomAD v4 |
4 | g.6302385G>A | CA116903 | WFS1 | c.2626G>A (p.Glu876Lys) c.2567G>A c.2590G>A (p.Glu864Lys) c.2341G>A (p.Glu781Lys) n.2775G>A c.2599G>A (p.Glu867Lys) | ClinVar dbSNP |
4 | g.6302385G>C | CA356179356 | WFS1 | c.2626G>C (p.Glu876Gln) c.2567G>C c.2590G>C (p.Glu864Gln) c.2341G>C (p.Glu781Gln) n.2775G>C c.2599G>C (p.Glu867Gln) | |
4 | g.6302385G= | CA1435772712 | WFS1 | c.2626G= (p.Glu876=) c.2567G= c.2590G= (p.Glu864=) c.2341G= (p.Glu781=) n.2775G= c.2599G= (p.Glu867=) | |
4 | g.6302385G>T | CA356179358 | WFS1 | c.2626G>T (p.Glu876Ter) c.2567G>T c.2590G>T (p.Glu864Ter) c.2341G>T (p.Glu781Ter) n.2775G>T c.2599G>T (p.Glu867Ter) | gnomAD v4 |
4 | g.6302386A>C | CA356179364 | WFS1 | c.2627A>C (p.Glu876Ala) c.2568A>C c.2591A>C (p.Glu864Ala) c.2342A>C (p.Glu781Ala) n.2776A>C c.2600A>C (p.Glu867Ala) | |
4 | g.6302386A>G | CA356179366 | WFS1 | c.2627A>G (p.Glu876Gly) c.2568A>G c.2591A>G (p.Glu864Gly) c.2342A>G (p.Glu781Gly) n.2776A>G c.2600A>G (p.Glu867Gly) | gnomAD v4 |
4 | g.6302386A>T | CA356179362 | WFS1 | c.2627A>T (p.Glu876Val) c.2568A>T c.2591A>T (p.Glu864Val) c.2342A>T (p.Glu781Val) n.2776A>T c.2600A>T (p.Glu867Val) | |
4 | g.6302386_6302393del | CA1058892874 | WFS1 | c.2627_2634del (p.Glu876ValfsTer?) c.2568_2575del c.2591_2598del (p.Glu864ValfsTer?) c.2342_2349del (p.Glu781ValfsTer?) n.2776_2783del c.2600_2607del (p.Glu867ValfsTer?) | gnomAD v3 gnomAD v4 |
4 | g.6302387G>A | CA438211543 | WFS1 | c.2628G>A (p.Glu876=) c.2569G>A c.2592G>A (p.Glu864=) c.2343G>A (p.Glu781=) n.2777G>A c.2601G>A (p.Glu867=) | gnomAD v4 |
4 | g.6302387G>C | CA356179370 | WFS1 | c.2628G>C (p.Glu876Asp) c.2569G>C c.2592G>C (p.Glu864Asp) c.2343G>C (p.Glu781Asp) n.2777G>C c.2601G>C (p.Glu867Asp) | |
4 | g.6302387G>T | CA356179369 | WFS1 | c.2628G>T (p.Glu876Asp) c.2569G>T c.2592G>T (p.Glu864Asp) c.2343G>T (p.Glu781Asp) n.2777G>T c.2601G>T (p.Glu867Asp) | gnomAD v4 |
4 | g.6302388C>A | CA356179372 | WFS1 | c.2629C>A (p.His877Asn) c.2570C>A c.2593C>A (p.His865Asn) c.2344C>A (p.His782Asn) n.2778C>A c.2602C>A (p.His868Asn) | |
4 | g.6302388C>G | CA356179374 | WFS1 | c.2629C>G (p.His877Asp) c.2570C>G c.2593C>G (p.His865Asp) c.2344C>G (p.His782Asp) n.2778C>G c.2602C>G (p.His868Asp) | gnomAD v4 |
4 | g.6302388C>T | CA356179377 | WFS1 | c.2629C>T (p.His877Tyr) c.2570C>T c.2593C>T (p.His865Tyr) c.2344C>T (p.His782Tyr) n.2778C>T c.2602C>T (p.His868Tyr) | ClinVar gnomAD v4 |
4 | g.6302389A>C | CA356179379 | WFS1 | c.2630A>C (p.His877Pro) c.2571A>C c.2594A>C (p.His865Pro) c.2345A>C (p.His782Pro) n.2779A>C c.2603A>C (p.His868Pro) | |
4 | g.6302389A>G | CA356179383 | WFS1 | c.2630A>G (p.His877Arg) c.2571A>G c.2594A>G (p.His865Arg) c.2345A>G (p.His782Arg) n.2779A>G c.2603A>G (p.His868Arg) | gnomAD v4 |
4 | g.6302389A>T | CA356179385 | WFS1 | c.2630A>T (p.His877Leu) c.2571A>T c.2594A>T (p.His865Leu) c.2345A>T (p.His782Leu) n.2779A>T c.2603A>T (p.His868Leu) | |
4 | g.6302390C>A | CA2839797 | WFS1 | c.2631C>A (p.His877Gln) c.2572C>A c.2595C>A (p.His865Gln) c.2346C>A (p.His782Gln) n.2780C>A c.2604C>A (p.His868Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302390C= | CA1435772714 | WFS1 | c.2631C= (p.His877=) c.2572C= c.2595C= (p.His865=) c.2346C= (p.His782=) n.2780C= c.2604C= (p.His868=) | |
4 | g.6302390C>G | CA356179388 | WFS1 | c.2631C>G (p.His877Gln) c.2572C>G c.2595C>G (p.His865Gln) c.2346C>G (p.His782Gln) n.2780C>G c.2604C>G (p.His868Gln) | |
4 | g.6302390C>T | CA2839796 | WFS1 | c.2631C>T (p.His877=) c.2572C>T c.2595C>T (p.His865=) c.2346C>T (p.His782=) n.2780C>T c.2604C>T (p.His868=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302391G>A | CA182744 | WFS1 | c.2632G>A (p.Asp878Asn) c.2573G>A c.2596G>A (p.Asp866Asn) c.2347G>A (p.Asp783Asn) n.2781G>A c.2605G>A (p.Asp869Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302391G>C | CA356179394 | WFS1 | c.2632G>C (p.Asp878His) c.2573G>C c.2596G>C (p.Asp866His) c.2347G>C (p.Asp783His) n.2781G>C c.2605G>C (p.Asp869His) | |
4 | g.6302391G= | CA1435772716 | WFS1 | c.2632G= (p.Asp878=) c.2573G= c.2596G= (p.Asp866=) c.2347G= (p.Asp783=) n.2781G= c.2605G= (p.Asp869=) | |
4 | g.6302391G>T | CA2839798 | WFS1 | c.2632G>T (p.Asp878Tyr) c.2573G>T c.2596G>T (p.Asp866Tyr) c.2347G>T (p.Asp783Tyr) n.2781G>T c.2605G>T (p.Asp869Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302392A>C | CA356179402 | WFS1 | c.2633A>C (p.Asp878Ala) c.2574A>C c.2597A>C (p.Asp866Ala) c.2348A>C (p.Asp783Ala) n.2782A>C c.2606A>C (p.Asp869Ala) | |
4 | g.6302392A>G | CA356179399 | WFS1 | c.2633A>G (p.Asp878Gly) c.2574A>G c.2597A>G (p.Asp866Gly) c.2348A>G (p.Asp783Gly) n.2782A>G c.2606A>G (p.Asp869Gly) | ClinVar dbSNP gnomAD v4 |
4 | g.6302392A>T | CA356179397 | WFS1 | c.2633A>T (p.Asp878Val) c.2574A>T c.2597A>T (p.Asp866Val) c.2348A>T (p.Asp783Val) n.2782A>T c.2606A>T (p.Asp869Val) | |
4 | g.6302393C>A | CA356179404 | WFS1 | c.2634C>A (p.Asp878Glu) c.2575C>A c.2598C>A (p.Asp866Glu) c.2349C>A (p.Asp783Glu) n.2783C>A c.2607C>A (p.Asp869Glu) | |
4 | g.6302393C= | CA1435772718 | WFS1 | c.2634C= (p.Asp878=) c.2575C= c.2598C= (p.Asp866=) c.2349C= (p.Asp783=) n.2783C= c.2607C= (p.Asp869=) | |
4 | g.6302393C>G | CA2839799 | WFS1 | c.2634C>G (p.Asp878Glu) c.2575C>G c.2598C>G (p.Asp866Glu) c.2349C>G (p.Asp783Glu) n.2783C>G c.2607C>G (p.Asp869Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302393C>T | CA438211546 | WFS1 | c.2634C>T (p.Asp878=) c.2575C>T c.2598C>T (p.Asp866=) c.2349C>T (p.Asp783=) n.2783C>T c.2607C>T (p.Asp869=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302394T>A | CA356179409 | WFS1 | c.2635T>A (p.Trp879Arg) c.2576T>A c.2599T>A (p.Trp867Arg) c.2350T>A (p.Trp784Arg) n.2784T>A c.2608T>A (p.Trp870Arg) | |
4 | g.6302394T>C | CA356179410 | WFS1 | c.2635T>C (p.Trp879Arg) c.2576T>C c.2599T>C (p.Trp867Arg) c.2350T>C (p.Trp784Arg) n.2784T>C c.2608T>C (p.Trp870Arg) | dbSNP |
4 | g.6302394T>G | CA356179414 | WFS1 | c.2635T>G (p.Trp879Gly) c.2576T>G c.2599T>G (p.Trp867Gly) c.2350T>G (p.Trp784Gly) n.2784T>G c.2608T>G (p.Trp870Gly) | gnomAD v4 |
4 | g.6302394T= | CA1435772720 | WFS1 | c.2635T= (p.Trp879=) c.2576T= c.2599T= (p.Trp867=) c.2350T= (p.Trp784=) n.2784T= c.2608T= (p.Trp870=) | |
4 | g.6302400_6302416dup | CA2669843475 | WFS1 | c.2641_2657dup (p.Val887AlafsTer7) c.2582_2598dup c.2605_2621dup (p.Val875AlafsTer7) c.2356_2372dup (p.Val792AlafsTer7) n.2790_2806dup c.2614_2630dup (p.Val878AlafsTer7) | gnomAD v4 |
4 | g.6302400_6302416del | CA2669843476 | WFS1 | c.2641_2657del (p.Ser881ArgfsTer?) c.2582_2598del c.2605_2621del (p.Ser869ArgfsTer?) c.2356_2372del (p.Ser786ArgfsTer?) n.2790_2806del c.2614_2630del (p.Ser872ArgfsTer?) | gnomAD v4 |
4 | g.6302395G>A | CA356179417 | WFS1 | c.2636G>A (p.Trp879Ter) c.2577G>A c.2600G>A (p.Trp867Ter) c.2351G>A (p.Trp784Ter) n.2785G>A c.2609G>A (p.Trp870Ter) | ClinVar dbSNP gnomAD v4 |
4 | g.6302395G>C | CA356179420 | WFS1 | c.2636G>C (p.Trp879Ser) c.2577G>C c.2600G>C (p.Trp867Ser) c.2351G>C (p.Trp784Ser) n.2785G>C c.2609G>C (p.Trp870Ser) | |
4 | g.6302395G= | CA1435772721 | WFS1 | c.2636G= (p.Trp879=) c.2577G= c.2600G= (p.Trp867=) c.2351G= (p.Trp784=) n.2785G= c.2609G= (p.Trp870=) | |
4 | g.6302395G>T | CA356179422 | WFS1 | c.2636G>T (p.Trp879Leu) c.2577G>T c.2600G>T (p.Trp867Leu) c.2351G>T (p.Trp784Leu) n.2785G>T c.2609G>T (p.Trp870Leu) | |
4 | g.6302396G>A | CA356179424 | WFS1 | c.2637G>A (p.Trp879Ter) c.2578G>A c.2601G>A (p.Trp867Ter) c.2352G>A (p.Trp784Ter) n.2786G>A c.2610G>A (p.Trp870Ter) | |
4 | g.6302396G>C | CA356179426 | WFS1 | c.2637G>C (p.Trp879Cys) c.2578G>C c.2601G>C (p.Trp867Cys) c.2352G>C (p.Trp784Cys) n.2786G>C c.2610G>C (p.Trp870Cys) | ClinVar dbSNP gnomAD v4 |
4 | g.6302396G>T | CA356179429 | WFS1 | c.2637G>T (p.Trp879Cys) c.2578G>T c.2601G>T (p.Trp867Cys) c.2352G>T (p.Trp784Cys) n.2786G>T c.2610G>T (p.Trp870Cys) | |
4 | g.6302396_6302397insT | CA1058892891 | WFS1 | c.2637_2638insT (p.Arg880SerfsTer?) c.2578_2579insT c.2601_2602insT (p.Arg868SerfsTer?) c.2352_2353insT (p.Arg785SerfsTer?) n.2786_2787insT c.2610_2611insT (p.Arg871SerfsTer?) | gnomAD v3 gnomAD v4 |
4 | g.6302397C>A | CA356179434 | WFS1 | c.2638C>A (p.Arg880Ser) c.2579C>A c.2602C>A (p.Arg868Ser) c.2353C>A (p.Arg785Ser) n.2787C>A c.2611C>A (p.Arg871Ser) | |
4 | g.6302397C= | CA1435772723 | WFS1 | c.2638C= (p.Arg880=) c.2579C= c.2602C= (p.Arg868=) c.2353C= (p.Arg785=) n.2787C= c.2611C= (p.Arg871=) | |
4 | g.6302397C>G | CA356179436 | WFS1 | c.2638C>G (p.Arg880Gly) c.2579C>G c.2602C>G (p.Arg868Gly) c.2353C>G (p.Arg785Gly) n.2787C>G c.2611C>G (p.Arg871Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302397C>T | CA2839800 | WFS1 | c.2638C>T (p.Arg880Cys) c.2579C>T c.2602C>T (p.Arg868Cys) c.2353C>T (p.Arg785Cys) n.2787C>T c.2611C>T (p.Arg871Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G>A | CA324220 | WFS1 | c.2639G>A (p.Arg880His) c.2580G>A c.2603G>A (p.Arg868His) c.2354G>A (p.Arg785His) n.2788G>A c.2612G>A (p.Arg871His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G>C | CA91797871 | WFS1 | c.2639G>C (p.Arg880Pro) c.2580G>C c.2603G>C (p.Arg868Pro) c.2354G>C (p.Arg785Pro) n.2788G>C c.2612G>C (p.Arg871Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302398G= | CA1435772725 | WFS1 | c.2639G= (p.Arg880=) c.2580G= c.2603G= (p.Arg868=) c.2354G= (p.Arg785=) n.2788G= c.2612G= (p.Arg871=) | |
4 | g.6302398G>T | CA356179437 | WFS1 | c.2639G>T (p.Arg880Leu) c.2580G>T c.2603G>T (p.Arg868Leu) c.2354G>T (p.Arg785Leu) n.2788G>T c.2612G>T (p.Arg871Leu) | |
4 | g.6302399C>A | CA438211551 | WFS1 | c.2640C>A (p.Arg880=) c.2581C>A c.2604C>A (p.Arg868=) c.2355C>A (p.Arg785=) n.2789C>A c.2613C>A (p.Arg871=) | gnomAD v4 |
4 | g.6302399C= | CA1435772727 | WFS1 | c.2640C= (p.Arg880=) c.2581C= c.2604C= (p.Arg868=) c.2355C= (p.Arg785=) n.2789C= c.2613C= (p.Arg871=) | |
4 | g.6302399C>G | CA438211552 | WFS1 | c.2640C>G (p.Arg880=) c.2581C>G c.2604C>G (p.Arg868=) c.2355C>G (p.Arg785=) n.2789C>G c.2613C>G (p.Arg871=) | |
4 | g.6302399C>T | CA2839801 | WFS1 | c.2640C>T (p.Arg880=) c.2581C>T c.2604C>T (p.Arg868=) c.2355C>T (p.Arg785=) n.2789C>T c.2613C>T (p.Arg871=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302400A= | CA1435772729 | WFS1 | c.2641A= (p.Ser881=) c.2582A= c.2605A= (p.Ser869=) c.2356A= (p.Ser786=) n.2790A= c.2614A= (p.Ser872=) | |
4 | g.6302400A>C | CA356179439 | WFS1 | c.2641A>C (p.Ser881Arg) c.2582A>C c.2605A>C (p.Ser869Arg) c.2356A>C (p.Ser786Arg) n.2790A>C c.2614A>C (p.Ser872Arg) | |
4 | g.6302400A>G | CA91797876 | WFS1 | c.2641A>G (p.Ser881Gly) c.2582A>G c.2605A>G (p.Ser869Gly) c.2356A>G (p.Ser786Gly) n.2790A>G c.2614A>G (p.Ser872Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302400A>T | CA356179442 | WFS1 | c.2641A>T (p.Ser881Cys) c.2582A>T c.2605A>T (p.Ser869Cys) c.2356A>T (p.Ser786Cys) n.2790A>T c.2614A>T (p.Ser872Cys) | |
4 | g.6302400_6302411del | CA2586973657 | WFS1 | c.2641_2652del (p.Ser881_His884del) c.2582_2593del c.2605_2616del (p.Ser869_His872del) c.2356_2367del (p.Ser786_His789del) n.2790_2801del c.2614_2625del (p.Ser872_His875del) | |
4 | g.6302400_6302401insAGCACCGTGCAT | CA2586973659 | WFS1 | c.2641_2642insAGCACCGTGCAT (p.Ser881delinsLysHisArgAlaCys) c.2582_2583insAGCACCGTGCAT c.2605_2606insAGCACCGTGCAT (p.Ser869delinsLysHisArgAlaCys) c.2356_2357insAGCACCGTGCAT (p.Ser786delinsLysHisArgAlaCys) n.2790_2791insAGCACCGTGCAT c.2614_2615insAGCACCGTGCAT (p.Ser872delinsLysHisArgAlaCys) | |
4 | g.6302401G>A | CA2839802 | WFS1 | c.2642G>A (p.Ser881Asn) c.2583G>A c.2606G>A (p.Ser869Asn) c.2357G>A (p.Ser786Asn) n.2791G>A c.2615G>A (p.Ser872Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302401G>C | CA356179448 | WFS1 | c.2642G>C (p.Ser881Thr) c.2583G>C c.2606G>C (p.Ser869Thr) c.2357G>C (p.Ser786Thr) n.2791G>C c.2615G>C (p.Ser872Thr) | |
4 | g.6302401G= | CA1435772730 | WFS1 | c.2642G= (p.Ser881=) c.2583G= c.2606G= (p.Ser869=) c.2357G= (p.Ser786=) n.2791G= c.2615G= (p.Ser872=) | |
4 | g.6302401G>T | CA356179450 | WFS1 | c.2642G>T (p.Ser881Ile) c.2583G>T c.2606G>T (p.Ser869Ile) c.2357G>T (p.Ser786Ile) n.2791G>T c.2615G>T (p.Ser872Ile) | |
4 | g.6302403_6302414dup | CA2586973658 | WFS1 | c.2644_2655dup (p.Gly885_Ala886insThrValHisGly) c.2585_2596dup c.2608_2619dup (p.Gly873_Ala874insThrValHisGly) c.2359_2370dup (p.Gly790_Ala791insThrValHisGly) n.2793_2804dup c.2617_2628dup (p.Gly876_Ala877insThrValHisGly) | |
4 | g.6302403_6302414del | CA2669843477 | WFS1 | c.2644_2655del (p.Thr882_Gly885del) c.2585_2596del c.2608_2619del (p.Thr870_Gly873del) c.2359_2370del (p.Thr787_Gly790del) n.2793_2804del c.2617_2628del (p.Thr873_Gly876del) | gnomAD v4 |
4 | g.6302402_6302418dup | CA2669843478 | WFS1 | c.2643_2659dup (p.Val887AlafsTer7) c.2584_2600dup c.2607_2623dup (p.Val875AlafsTer7) c.2358_2374dup (p.Val792AlafsTer7) n.2792_2808dup c.2616_2632dup (p.Val878AlafsTer7) | gnomAD v4 |
4 | g.6302402C>A | CA356179453 | WFS1 | c.2643C>A (p.Ser881Arg) c.2584C>A c.2607C>A (p.Ser869Arg) c.2358C>A (p.Ser786Arg) n.2792C>A c.2616C>A (p.Ser872Arg) | |
4 | g.6302402C= | CA1435772732 | WFS1 | c.2643C= (p.Ser881=) c.2584C= c.2607C= (p.Ser869=) c.2358C= (p.Ser786=) n.2792C= c.2616C= (p.Ser872=) | |
4 | g.6302402C>G | CA356179454 | WFS1 | c.2643C>G (p.Ser881Arg) c.2584C>G c.2607C>G (p.Ser869Arg) c.2358C>G (p.Ser786Arg) n.2792C>G c.2616C>G (p.Ser872Arg) | gnomAD v4 |
4 | g.6302402C>T | CA438211556 | WFS1 | c.2643C>T (p.Ser881=) c.2584C>T c.2607C>T (p.Ser869=) c.2358C>T (p.Ser786=) n.2792C>T c.2616C>T (p.Ser872=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302403A= | CA1435772734 | WFS1 | c.2644A= (p.Thr882=) c.2585A= c.2608A= (p.Thr870=) c.2359A= (p.Thr787=) n.2793A= c.2617A= (p.Thr873=) | |
4 | g.6302403A>C | CA2839803 | WFS1 | c.2644A>C (p.Thr882Pro) c.2585A>C c.2608A>C (p.Thr870Pro) c.2359A>C (p.Thr787Pro) n.2793A>C c.2617A>C (p.Thr873Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302403A>G | CA356179458 | WFS1 | c.2644A>G (p.Thr882Ala) c.2585A>G c.2608A>G (p.Thr870Ala) c.2359A>G (p.Thr787Ala) n.2793A>G c.2617A>G (p.Thr873Ala) | |
4 | g.6302403A>T | CA356179461 | WFS1 | c.2644A>T (p.Thr882Ser) c.2585A>T c.2608A>T (p.Thr870Ser) c.2359A>T (p.Thr787Ser) n.2793A>T c.2617A>T (p.Thr873Ser) | |
4 | g.6302404C>A | CA356179468 | WFS1 | c.2645C>A (p.Thr882Asn) c.2586C>A c.2609C>A (p.Thr870Asn) c.2360C>A (p.Thr787Asn) n.2794C>A c.2618C>A (p.Thr873Asn) | |
4 | g.6302404C= | CA1435772736 | WFS1 | c.2645C= (p.Thr882=) c.2586C= c.2609C= (p.Thr870=) c.2360C= (p.Thr787=) n.2794C= c.2618C= (p.Thr873=) | |
4 | g.6302404C>G | CA356179466 | WFS1 | c.2645C>G (p.Thr882Ser) c.2586C>G c.2609C>G (p.Thr870Ser) c.2360C>G (p.Thr787Ser) n.2794C>G c.2618C>G (p.Thr873Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302404C>T | CA356179463 | WFS1 | c.2645C>T (p.Thr882Ile) c.2586C>T c.2609C>T (p.Thr870Ile) c.2360C>T (p.Thr787Ile) n.2794C>T c.2618C>T (p.Thr873Ile) | gnomAD v4 |
4 | g.6302409_6302420del | CA2586973660 | WFS1 | c.2650_2661del (p.His884_Val887del) c.2591_2602del c.2614_2625del (p.His872_Val875del) c.2365_2376del (p.His789_Val792del) n.2799_2810del c.2623_2634del (p.His875_Val878del) | ClinVar gnomAD v4 |
4 | g.6302405C>A | CA438211559 | WFS1 | c.2646C>A (p.Thr882=) c.2587C>A c.2610C>A (p.Thr870=) c.2361C>A (p.Thr787=) n.2795C>A c.2619C>A (p.Thr873=) | |
4 | g.6302405C= | CA1435772738 | WFS1 | c.2646C= (p.Thr882=) c.2587C= c.2610C= (p.Thr870=) c.2361C= (p.Thr787=) n.2795C= c.2619C= (p.Thr873=) | |
4 | g.6302405C>G | CA438211561 | WFS1 | c.2646C>G (p.Thr882=) c.2587C>G c.2610C>G (p.Thr870=) c.2361C>G (p.Thr787=) n.2795C>G c.2619C>G (p.Thr873=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302405C>T | CA179685 | WFS1 | c.2646C>T (p.Thr882=) c.2587C>T c.2610C>T (p.Thr870=) c.2361C>T (p.Thr787=) n.2795C>T c.2619C>T (p.Thr873=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G>A | CA285655 | WFS1 | c.2647G>A (p.Val883Met) c.2588G>A c.2611G>A (p.Val871Met) c.2362G>A (p.Val788Met) n.2796G>A c.2620G>A (p.Val874Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G>C | CA356179472 | WFS1 | c.2647G>C (p.Val883Leu) c.2588G>C c.2611G>C (p.Val871Leu) c.2362G>C (p.Val788Leu) n.2796G>C c.2620G>C (p.Val874Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302406G= | CA1435772740 | WFS1 | c.2647G= (p.Val883=) c.2588G= c.2611G= (p.Val871=) c.2362G= (p.Val788=) n.2796G= c.2620G= (p.Val874=) | |
4 | g.6302406G>T | CA356179475 | WFS1 | c.2647G>T (p.Val883Leu) c.2588G>T c.2611G>T (p.Val871Leu) c.2362G>T (p.Val788Leu) n.2796G>T c.2620G>T (p.Val874Leu) | |
4 | g.6302407T>A | CA356179477 | WFS1 | c.2648T>A (p.Val883Glu) c.2589T>A c.2612T>A (p.Val871Glu) c.2363T>A (p.Val788Glu) n.2797T>A c.2621T>A (p.Val874Glu) | |
4 | g.6302407T>C | CA356179480 | WFS1 | c.2648T>C (p.Val883Ala) c.2589T>C c.2612T>C (p.Val871Ala) c.2363T>C (p.Val788Ala) n.2797T>C c.2621T>C (p.Val874Ala) | |
4 | g.6302407T>G | CA2839804 | WFS1 | c.2648T>G (p.Val883Gly) c.2589T>G c.2612T>G (p.Val871Gly) c.2363T>G (p.Val788Gly) n.2797T>G c.2621T>G (p.Val874Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302407T= | CA1435772741 | WFS1 | c.2648T= (p.Val883=) c.2589T= c.2612T= (p.Val871=) c.2363T= (p.Val788=) n.2797T= c.2621T= (p.Val874=) | |
4 | g.6302408G>A | CA438211566 | WFS1 | c.2649G>A (p.Val883=) c.2590G>A c.2613G>A (p.Val871=) c.2364G>A (p.Val788=) n.2798G>A c.2622G>A (p.Val874=) | |
4 | g.6302408G>C | CA438211568 | WFS1 | c.2649G>C (p.Val883=) c.2590G>C c.2613G>C (p.Val871=) c.2364G>C (p.Val788=) n.2798G>C c.2622G>C (p.Val874=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302408G= | CA1435772743 | WFS1 | c.2649G= (p.Val883=) c.2590G= c.2613G= (p.Val871=) c.2364G= (p.Val788=) n.2798G= c.2622G= (p.Val874=) | |
4 | g.6302408G>T | CA438211567 | WFS1 | c.2649G>T (p.Val883=) c.2590G>T c.2613G>T (p.Val871=) c.2364G>T (p.Val788=) n.2798G>T c.2622G>T (p.Val874=) | gnomAD v3 gnomAD v4 |
4 | g.6302409C>A | CA356179483 | WFS1 | c.2650C>A (p.His884Asn) c.2591C>A c.2614C>A (p.His872Asn) c.2365C>A (p.His789Asn) n.2799C>A c.2623C>A (p.His875Asn) | |
4 | g.6302409C= | CA1435772744 | WFS1 | c.2650C= (p.His884=) c.2591C= c.2614C= (p.His872=) c.2365C= (p.His789=) n.2799C= c.2623C= (p.His875=) | |
4 | g.6302409C>G | CA356179485 | WFS1 | c.2650C>G (p.His884Asp) c.2591C>G c.2614C>G (p.His872Asp) c.2365C>G (p.His789Asp) n.2799C>G c.2623C>G (p.His875Asp) | |
4 | g.6302409C>T | CA356179486 | WFS1 | c.2650C>T (p.His884Tyr) c.2591C>T c.2614C>T (p.His872Tyr) c.2365C>T (p.His789Tyr) n.2799C>T c.2623C>T (p.His875Tyr) | dbSNP |
4 | g.6302410A= | CA1435772746 | WFS1 | c.2651A= (p.His884=) c.2592A= c.2615A= (p.His872=) c.2366A= (p.His789=) n.2800A= c.2624A= (p.His875=) | |
4 | g.6302410A>C | CA356179488 | WFS1 | c.2651A>C (p.His884Pro) c.2592A>C c.2615A>C (p.His872Pro) c.2366A>C (p.His789Pro) n.2800A>C c.2624A>C (p.His875Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302410A>G | CA2839805 | WFS1 | c.2651A>G (p.His884Arg) c.2592A>G c.2615A>G (p.His872Arg) c.2366A>G (p.His789Arg) n.2800A>G c.2624A>G (p.His875Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302410A>T | CA356179491 | WFS1 | c.2651A>T (p.His884Leu) c.2592A>T c.2615A>T (p.His872Leu) c.2366A>T (p.His789Leu) n.2800A>T c.2624A>T (p.His875Leu) | gnomAD v4 |
4 | g.6302411T>A | CA356179498 | WFS1 | c.2652T>A (p.His884Gln) c.2593T>A c.2616T>A (p.His872Gln) c.2367T>A (p.His789Gln) n.2801T>A c.2625T>A (p.His875Gln) | |
4 | g.6302411T>C | CA438211569 | WFS1 | c.2652T>C (p.His884=) c.2593T>C c.2616T>C (p.His872=) c.2367T>C (p.His789=) n.2801T>C c.2625T>C (p.His875=) | |
4 | g.6302411T>G | CA356179496 | WFS1 | c.2652T>G (p.His884Gln) c.2593T>G c.2616T>G (p.His872Gln) c.2367T>G (p.His789Gln) n.2801T>G c.2625T>G (p.His875Gln) | |
4 | g.6302412G>A | CA356179500 | WFS1 | c.2653G>A (p.Gly885Ser) c.2594G>A c.2617G>A (p.Gly873Ser) c.2368G>A (p.Gly790Ser) n.2802G>A c.2626G>A (p.Gly876Ser) | |
4 | g.6302412G>C | CA356179501 | WFS1 | c.2653G>C (p.Gly885Arg) c.2594G>C c.2617G>C (p.Gly873Arg) c.2368G>C (p.Gly790Arg) n.2802G>C c.2626G>C (p.Gly876Arg) | |
4 | g.6302412G>T | CA356179504 | WFS1 | c.2653G>T (p.Gly885Cys) c.2594G>T c.2617G>T (p.Gly873Cys) c.2368G>T (p.Gly790Cys) n.2802G>T c.2626G>T (p.Gly876Cys) | |
4 | g.6302413del | CA2834000483 | WFS1 | c.2654del (p.Gly885AlafsTer3) c.2595del c.2618del (p.Gly873AlafsTer3) c.2369del (p.Gly790AlafsTer3) n.2803del c.2627del (p.Gly876AlafsTer3) | |
4 | g.6302413G>A | CA356179505 | WFS1 | c.2654G>A (p.Gly885Asp) c.2595G>A c.2618G>A (p.Gly873Asp) c.2369G>A (p.Gly790Asp) n.2803G>A c.2627G>A (p.Gly876Asp) | dbSNP |
4 | g.6302413G>C | CA356179508 | WFS1 | c.2654G>C (p.Gly885Ala) c.2595G>C c.2618G>C (p.Gly873Ala) c.2369G>C (p.Gly790Ala) n.2803G>C c.2627G>C (p.Gly876Ala) | |
4 | g.6302413G= | CA1435772747 | WFS1 | c.2654G= (p.Gly885=) c.2595G= c.2618G= (p.Gly873=) c.2369G= (p.Gly790=) n.2803G= c.2627G= (p.Gly876=) | |
4 | g.6302413G>T | CA356179510 | WFS1 | c.2654G>T (p.Gly885Val) c.2595G>T c.2618G>T (p.Gly873Val) c.2369G>T (p.Gly790Val) n.2803G>T c.2627G>T (p.Gly876Val) | gnomAD v4 |
4 | g.6302414C>A | CA438211571 | WFS1 | c.2655C>A (p.Gly885=) c.2596C>A c.2619C>A (p.Gly873=) c.2370C>A (p.Gly790=) n.2804C>A c.2628C>A (p.Gly876=) | |
4 | g.6302414C= | CA1435772749 | WFS1 | c.2655C= (p.Gly885=) c.2596C= c.2619C= (p.Gly873=) c.2370C= (p.Gly790=) n.2804C= c.2628C= (p.Gly876=) | |
4 | g.6302414C>G | CA438211573 | WFS1 | c.2655C>G (p.Gly885=) c.2596C>G c.2619C>G (p.Gly873=) c.2370C>G (p.Gly790=) n.2804C>G c.2628C>G (p.Gly876=) | |
4 | g.6302414C>T | CA2839806 | WFS1 | c.2655C>T (p.Gly885=) c.2596C>T c.2619C>T (p.Gly873=) c.2370C>T (p.Gly790=) n.2804C>T c.2628C>T (p.Gly876=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302415G>A | CA2839807 | WFS1 | c.2656G>A (p.Ala886Thr) c.2597G>A c.2620G>A (p.Ala874Thr) c.2371G>A (p.Ala791Thr) n.2805G>A c.2629G>A (p.Ala877Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302415G>C | CA356179517 | WFS1 | c.2656G>C (p.Ala886Pro) c.2597G>C c.2620G>C (p.Ala874Pro) c.2371G>C (p.Ala791Pro) n.2805G>C c.2629G>C (p.Ala877Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.6302415G= | CA1435772751 | WFS1 | c.2656G= (p.Ala886=) c.2597G= c.2620G= (p.Ala874=) c.2371G= (p.Ala791=) n.2805G= c.2629G= (p.Ala877=) | |
4 | g.6302415G>T | CA356179519 | WFS1 | c.2656G>T (p.Ala886Ser) c.2597G>T c.2620G>T (p.Ala874Ser) c.2371G>T (p.Ala791Ser) n.2805G>T c.2629G>T (p.Ala877Ser) | |
4 | g.6302416C>A | CA356179521 | WFS1 | c.2657C>A (p.Ala886Asp) c.2598C>A c.2621C>A (p.Ala874Asp) c.2372C>A (p.Ala791Asp) n.2806C>A c.2630C>A (p.Ala877Asp) | ClinVar dbSNP |
4 | g.6302416C= | CA1435772753 | WFS1 | c.2657C= (p.Ala886=) c.2598C= c.2621C= (p.Ala874=) c.2372C= (p.Ala791=) n.2806C= c.2630C= (p.Ala877=) | |
4 | g.6302416C>G | CA2839808 | WFS1 | c.2657C>G (p.Ala886Gly) c.2598C>G c.2621C>G (p.Ala874Gly) c.2372C>G (p.Ala791Gly) n.2806C>G c.2630C>G (p.Ala877Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302416C>T | CA356179524 | WFS1 | c.2657C>T (p.Ala886Val) c.2598C>T c.2621C>T (p.Ala874Val) c.2372C>T (p.Ala791Val) n.2806C>T c.2630C>T (p.Ala877Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302417C>A | CA438211574 | WFS1 | c.2658C>A (p.Ala886=) c.2599C>A c.2622C>A (p.Ala874=) c.2373C>A (p.Ala791=) n.2807C>A c.2631C>A (p.Ala877=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302417C= | CA1435772755 | WFS1 | c.2658C= (p.Ala886=) c.2599C= c.2622C= (p.Ala874=) c.2373C= (p.Ala791=) n.2807C= c.2631C= (p.Ala877=) | |
4 | g.6302417C>G | CA438211576 | WFS1 | c.2658C>G (p.Ala886=) c.2599C>G c.2622C>G (p.Ala874=) c.2373C>G (p.Ala791=) n.2807C>G c.2631C>G (p.Ala877=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302417C>T | CA2839809 | WFS1 | c.2658C>T (p.Ala886=) c.2599C>T c.2622C>T (p.Ala874=) c.2373C>T (p.Ala791=) n.2807C>T c.2631C>T (p.Ala877=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302418G>A | CA2839810 | WFS1 | c.2659G>A (p.Val887Met) c.2600G>A c.2623G>A (p.Val875Met) c.2374G>A (p.Val792Met) n.2808G>A c.2632G>A (p.Val878Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302418G>C | CA356179529 | WFS1 | c.2659G>C (p.Val887Leu) c.2600G>C c.2623G>C (p.Val875Leu) c.2374G>C (p.Val792Leu) n.2808G>C c.2632G>C (p.Val878Leu) | dbSNP |
4 | g.6302418G= | CA1435772758 | WFS1 | c.2659G= (p.Val887=) c.2600G= c.2623G= (p.Val875=) c.2374G= (p.Val792=) n.2808G= c.2632G= (p.Val878=) | |
4 | g.6302418G>T | CA356179527 | WFS1 | c.2659G>T (p.Val887Leu) c.2600G>T c.2623G>T (p.Val875Leu) c.2374G>T (p.Val792Leu) n.2808G>T c.2632G>T (p.Val878Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302419T>A | CA356179532 | WFS1 | c.2660T>A (p.Val887Glu) c.2601T>A c.2624T>A (p.Val875Glu) c.2375T>A (p.Val792Glu) n.2809T>A c.2633T>A (p.Val878Glu) | |
4 | g.6302419T>C | CA356179534 | WFS1 | c.2660T>C (p.Val887Ala) c.2601T>C c.2624T>C (p.Val875Ala) c.2375T>C (p.Val792Ala) n.2809T>C c.2633T>C (p.Val878Ala) | ClinVar dbSNP gnomAD v4 |
4 | g.6302419T>G | CA356179536 | WFS1 | c.2660T>G (p.Val887Gly) c.2601T>G c.2624T>G (p.Val875Gly) c.2375T>G (p.Val792Gly) n.2809T>G c.2633T>G (p.Val878Gly) | |
4 | g.6302419T= | CA1435772760 | WFS1 | c.2660T= (p.Val887=) c.2601T= c.2624T= (p.Val875=) c.2375T= (p.Val792=) n.2809T= c.2633T= (p.Val878=) | |
4 | g.6302420G>A | CA438211578 | WFS1 | c.2661G>A (p.Val887=) c.2602G>A c.2625G>A (p.Val875=) c.2376G>A (p.Val792=) n.2810G>A c.2634G>A (p.Val878=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302420G>C | CA438211579 | WFS1 | c.2661G>C (p.Val887=) c.2602G>C c.2625G>C (p.Val875=) c.2376G>C (p.Val792=) n.2810G>C c.2634G>C (p.Val878=) | gnomAD v4 |
4 | g.6302420G= | CA1435772762 | WFS1 | c.2661G= (p.Val887=) c.2602G= c.2625G= (p.Val875=) c.2376G= (p.Val792=) n.2810G= c.2634G= (p.Val878=) | |
4 | g.6302420G>T | CA438211580 | WFS1 | c.2661G>T (p.Val887=) c.2602G>T c.2625G>T (p.Val875=) c.2376G>T (p.Val792=) n.2810G>T c.2634G>T (p.Val878=) | |
4 | g.6302421A= | CA1435772764 | WFS1 | c.2662A= (p.Lys888=) c.2603A= c.2626A= (p.Lys876=) c.2377A= (p.Lys793=) n.2811A= c.2635A= (p.Lys879=) | |
4 | g.6302421A>C | CA356179539 | WFS1 | c.2662A>C (p.Lys888Gln) c.2603A>C c.2626A>C (p.Lys876Gln) c.2377A>C (p.Lys793Gln) n.2811A>C c.2635A>C (p.Lys879Gln) | dbSNP gnomAD v4 |
4 | g.6302421A>G | CA356179542 | WFS1 | c.2662A>G (p.Lys888Glu) c.2603A>G c.2626A>G (p.Lys876Glu) c.2377A>G (p.Lys793Glu) n.2811A>G c.2635A>G (p.Lys879Glu) | |
4 | g.6302421A>T | CA356179544 | WFS1 | c.2662A>T (p.Lys888Ter) c.2603A>T c.2626A>T (p.Lys876Ter) c.2377A>T (p.Lys793Ter) n.2811A>T c.2635A>T (p.Lys879Ter) | |
4 | g.6302422A= | CA1435772766 | WFS1 | c.2663A= (p.Lys888=) c.2604A= c.2627A= (p.Lys876=) c.2378A= (p.Lys793=) n.2812A= c.2636A= (p.Lys879=) | |
4 | g.6302422A>C | CA2839811 | WFS1 | c.2663A>C (p.Lys888Thr) c.2604A>C c.2627A>C (p.Lys876Thr) c.2378A>C (p.Lys793Thr) n.2812A>C c.2636A>C (p.Lys879Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302422A>G | CA2839812 | WFS1 | c.2663A>G (p.Lys888Arg) c.2604A>G c.2627A>G (p.Lys876Arg) c.2378A>G (p.Lys793Arg) n.2812A>G c.2636A>G (p.Lys879Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302422A>T | CA356179549 | WFS1 | c.2663A>T (p.Lys888Met) c.2604A>T c.2627A>T (p.Lys876Met) c.2378A>T (p.Lys793Met) n.2812A>T c.2636A>T (p.Lys879Met) | |
4 | g.6302423G>A | CA438211581 | WFS1 | c.2664G>A (p.Lys888=) c.2605G>A c.2628G>A (p.Lys876=) c.2379G>A (p.Lys793=) n.2813G>A c.2637G>A (p.Lys879=) | dbSNP |
4 | g.6302423G>C | CA356179552 | WFS1 | c.2664G>C (p.Lys888Asn) c.2605G>C c.2628G>C (p.Lys876Asn) c.2379G>C (p.Lys793Asn) n.2813G>C c.2637G>C (p.Lys879Asn) | |
4 | g.6302423G= | CA1435772768 | WFS1 | c.2664G= (p.Lys888=) c.2605G= c.2628G= (p.Lys876=) c.2379G= (p.Lys793=) n.2813G= c.2637G= (p.Lys879=) | |
4 | g.6302423G>T | CA356179554 | WFS1 | c.2664G>T (p.Lys888Asn) c.2605G>T c.2628G>T (p.Lys876Asn) c.2379G>T (p.Lys793Asn) n.2813G>T c.2637G>T (p.Lys879Asn) | |
4 | g.6302424T>A | CA356179557 | WFS1 | c.2665T>A (p.Phe889Ile) c.2606T>A c.2629T>A (p.Phe877Ile) c.2380T>A (p.Phe794Ile) n.2814T>A c.2638T>A (p.Phe880Ile) | |
4 | g.6302424T>C | CA356179559 | WFS1 | c.2665T>C (p.Phe889Leu) c.2606T>C c.2629T>C (p.Phe877Leu) c.2380T>C (p.Phe794Leu) n.2814T>C c.2638T>C (p.Phe880Leu) | |
4 | g.6302424T>G | CA356179561 | WFS1 | c.2665T>G (p.Phe889Val) c.2606T>G c.2629T>G (p.Phe877Val) c.2380T>G (p.Phe794Val) n.2814T>G c.2638T>G (p.Phe880Val) | gnomAD v4 |
4 | g.6302425T>A | CA356179566 | WFS1 | c.2666T>A (p.Phe889Tyr) c.2607T>A c.2630T>A (p.Phe877Tyr) c.2381T>A (p.Phe794Tyr) n.2815T>A c.2639T>A (p.Phe880Tyr) | |
4 | g.6302425T>C | CA356179567 | WFS1 | c.2666T>C (p.Phe889Ser) c.2607T>C c.2630T>C (p.Phe877Ser) c.2381T>C (p.Phe794Ser) n.2815T>C c.2639T>C (p.Phe880Ser) | |
4 | g.6302425T>G | CA356179564 | WFS1 | c.2666T>G (p.Phe889Cys) c.2607T>G c.2630T>G (p.Phe877Cys) c.2381T>G (p.Phe794Cys) n.2815T>G c.2639T>G (p.Phe880Cys) | |
4 | g.6302426C>A | CA356179570 | WFS1 | c.2667C>A (p.Phe889Leu) c.2608C>A c.2631C>A (p.Phe877Leu) c.2382C>A (p.Phe794Leu) n.2816C>A c.2640C>A (p.Phe880Leu) | |
4 | g.6302426C= | CA1435772770 | WFS1 | c.2667C= (p.Phe889=) c.2608C= c.2631C= (p.Phe877=) c.2382C= (p.Phe794=) n.2816C= c.2640C= (p.Phe880=) | |
4 | g.6302426C>G | CA356179572 | WFS1 | c.2667C>G (p.Phe889Leu) c.2608C>G c.2631C>G (p.Phe877Leu) c.2382C>G (p.Phe794Leu) n.2816C>G c.2640C>G (p.Phe880Leu) | |
4 | g.6302426C>T | CA2839813 | WFS1 | c.2667C>T (p.Phe889=) c.2608C>T c.2631C>T (p.Phe877=) c.2382C>T (p.Phe794=) n.2816C>T c.2640C>T (p.Phe880=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302427G>A | CA2839814 | WFS1 | c.2668G>A (p.Ala890Thr) c.2609G>A c.2632G>A (p.Ala878Thr) c.2383G>A (p.Ala795Thr) n.2817G>A c.2641G>A (p.Ala881Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302427G>C | CA356179579 | WFS1 | c.2668G>C (p.Ala890Pro) c.2609G>C c.2632G>C (p.Ala878Pro) c.2383G>C (p.Ala795Pro) n.2817G>C c.2641G>C (p.Ala881Pro) | gnomAD v4 |
4 | g.6302427G= | CA1435772772 | WFS1 | c.2668G= (p.Ala890=) c.2609G= c.2632G= (p.Ala878=) c.2383G= (p.Ala795=) n.2817G= c.2641G= (p.Ala881=) | |
4 | g.6302427G>T | CA356179581 | WFS1 | c.2668G>T (p.Ala890Ser) c.2609G>T c.2632G>T (p.Ala878Ser) c.2383G>T (p.Ala795Ser) n.2817G>T c.2641G>T (p.Ala881Ser) | gnomAD v4 |
4 | g.6302428C>A | CA356179584 | WFS1 | c.2669C>A (p.Ala890Asp) c.2610C>A c.2633C>A (p.Ala878Asp) c.2384C>A (p.Ala795Asp) n.2818C>A c.2642C>A (p.Ala881Asp) | |
4 | g.6302428C>G | CA356179586 | WFS1 | c.2669C>G (p.Ala890Gly) c.2610C>G c.2633C>G (p.Ala878Gly) c.2384C>G (p.Ala795Gly) n.2818C>G c.2642C>G (p.Ala881Gly) | |
4 | g.6302428C>T | CA356179588 | WFS1 | c.2669C>T (p.Ala890Val) c.2610C>T c.2633C>T (p.Ala878Val) c.2384C>T (p.Ala795Val) n.2818C>T c.2642C>T (p.Ala881Val) | |
4 | g.6302428_6302434delinsCCTTCGA | CA1435772775 | WFS1 | c.2669_2675delinsCCTTCGA (p.Ala890=) c.2610_2616delinsCCTTCGA c.2633_2639delinsCCTTCGA (p.Ala878=) c.2384_2390delinsCCTTCGA (p.Ala795=) n.2818_2824delinsCCTTCGA c.2642_2648delinsCCTTCGA (p.Ala881=) | |
4 | g.6302429C>A | CA438211586 | WFS1 | c.2670C>A (p.Ala890=) c.2611C>A c.2634C>A (p.Ala878=) c.2385C>A (p.Ala795=) n.2819C>A c.2643C>A (p.Ala881=) | |
4 | g.6302429C= | CA1435772778 | WFS1 | c.2670C= (p.Ala890=) c.2611C= c.2634C= (p.Ala878=) c.2385C= (p.Ala795=) n.2819C= c.2643C= (p.Ala881=) | |
4 | g.6302429C>G | CA438211588 | WFS1 | c.2670C>G (p.Ala890=) c.2611C>G c.2634C>G (p.Ala878=) c.2385C>G (p.Ala795=) n.2819C>G c.2643C>G (p.Ala881=) | |
4 | g.6302429C>T | CA438211587 | WFS1 | c.2670C>T (p.Ala890=) c.2611C>T c.2634C>T (p.Ala878=) c.2385C>T (p.Ala795=) n.2819C>T c.2643C>T (p.Ala881=) | dbSNP gnomAD v4 |
4 | g.6302433_6302438del | CA797211390 | WFS1 | c.2674_2679del (p.Asp892_Phe893del) c.2615_2620del c.2638_2643del (p.Asp880_Phe881del) c.2389_2394del (p.Asp797_Phe798del) n.2823_2828del c.2647_2652del (p.Asp883_Phe884del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302430T>A | CA356179591 | WFS1 | c.2671T>A (p.Phe891Ile) c.2612T>A c.2635T>A (p.Phe879Ile) c.2386T>A (p.Phe796Ile) n.2820T>A c.2644T>A (p.Phe882Ile) | |
4 | g.6302430T>C | CA356179593 | WFS1 | c.2671T>C (p.Phe891Leu) c.2612T>C c.2635T>C (p.Phe879Leu) c.2386T>C (p.Phe796Leu) n.2820T>C c.2644T>C (p.Phe882Leu) | |
4 | g.6302430T>G | CA356179596 | WFS1 | c.2671T>G (p.Phe891Val) c.2612T>G c.2635T>G (p.Phe879Val) c.2386T>G (p.Phe796Val) n.2820T>G c.2644T>G (p.Phe882Val) | |
4 | g.6302431T>A | CA356179603 | WFS1 | c.2672T>A (p.Phe891Tyr) c.2613T>A c.2636T>A (p.Phe879Tyr) c.2387T>A (p.Phe796Tyr) n.2821T>A c.2645T>A (p.Phe882Tyr) | |
4 | g.6302431T>C | CA356179609 | WFS1 | c.2672T>C (p.Phe891Ser) c.2613T>C c.2636T>C (p.Phe879Ser) c.2387T>C (p.Phe796Ser) n.2821T>C c.2645T>C (p.Phe882Ser) | |
4 | g.6302431T>G | CA356179600 | WFS1 | c.2672T>G (p.Phe891Cys) c.2613T>G c.2636T>G (p.Phe879Cys) c.2387T>G (p.Phe796Cys) n.2821T>G c.2645T>G (p.Phe882Cys) | |
4 | g.6302432C>A | CA356179612 | WFS1 | c.2673C>A (p.Phe891Leu) c.2614C>A c.2637C>A (p.Phe879Leu) c.2388C>A (p.Phe796Leu) n.2822C>A c.2646C>A (p.Phe882Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302432C= | CA1435772783 | WFS1 | c.2673C= (p.Phe891=) c.2614C= c.2637C= (p.Phe879=) c.2388C= (p.Phe796=) n.2822C= c.2646C= (p.Phe882=) | |
4 | g.6302432C>G | CA356179613 | WFS1 | c.2673C>G (p.Phe891Leu) c.2614C>G c.2637C>G (p.Phe879Leu) c.2388C>G (p.Phe796Leu) n.2822C>G c.2646C>G (p.Phe882Leu) | |
4 | g.6302432C>T | CA2839815 | WFS1 | c.2673C>T (p.Phe891=) c.2614C>T c.2637C>T (p.Phe879=) c.2388C>T (p.Phe796=) n.2822C>T c.2646C>T (p.Phe882=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302432_6302436delinsCGACT | CA1435772782 | WFS1 | c.2673_2677delinsCGACT (p.Phe891=) c.2614_2618delinsCGACT c.2637_2641delinsCGACT (p.Phe879=) c.2388_2392delinsCGACT (p.Phe796=) n.2822_2826delinsCGACT c.2646_2650delinsCGACT (p.Phe882=) | |
4 | g.6302433G>A | CA2839816 | WFS1 | c.2674G>A (p.Asp892Asn) c.2615G>A c.2638G>A (p.Asp880Asn) c.2389G>A (p.Asp797Asn) n.2823G>A c.2647G>A (p.Asp883Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302433G>C | CA2839817 | WFS1 | c.2674G>C (p.Asp892His) c.2615G>C c.2638G>C (p.Asp880His) c.2389G>C (p.Asp797His) n.2823G>C c.2647G>C (p.Asp883His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302433G= | CA1435772784 | WFS1 | c.2674G= (p.Asp892=) c.2615G= c.2638G= (p.Asp880=) c.2389G= (p.Asp797=) n.2823G= c.2647G= (p.Asp883=) | |
4 | g.6302433G>T | CA356179620 | WFS1 | c.2674G>T (p.Asp892Tyr) c.2615G>T c.2638G>T (p.Asp880Tyr) c.2389G>T (p.Asp797Tyr) n.2823G>T c.2647G>T (p.Asp883Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302433dup | CA2841725584 | WFS1 | c.2674dup (p.Asp892GlyfsTer?) c.2615dup c.2638dup (p.Asp880GlyfsTer?) c.2389dup (p.Asp797GlyfsTer?) n.2823dup c.2647dup (p.Asp883GlyfsTer?) | |
4 | g.6302433_6302436del | CA1058892966 | WFS1 | c.2674_2677del (p.Asp892SerfsTer?) c.2615_2618del c.2638_2641del (p.Asp880SerfsTer?) c.2389_2392del (p.Asp797SerfsTer?) n.2823_2826del c.2647_2650del (p.Asp883SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302434A= | CA1435772787 | WFS1 | c.2675A= (p.Asp892=) c.2616A= c.2639A= (p.Asp880=) c.2390A= (p.Asp797=) n.2824A= c.2648A= (p.Asp883=) | |
4 | g.6302434A>C | CA356179623 | WFS1 | c.2675A>C (p.Asp892Ala) c.2616A>C c.2639A>C (p.Asp880Ala) c.2390A>C (p.Asp797Ala) n.2824A>C c.2648A>C (p.Asp883Ala) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302434A>G | CA356179631 | WFS1 | c.2675A>G (p.Asp892Gly) c.2616A>G c.2639A>G (p.Asp880Gly) c.2390A>G (p.Asp797Gly) n.2824A>G c.2648A>G (p.Asp883Gly) | |
4 | g.6302434A>T | CA356179628 | WFS1 | c.2675A>T (p.Asp892Val) c.2616A>T c.2639A>T (p.Asp880Val) c.2390A>T (p.Asp797Val) n.2824A>T c.2648A>T (p.Asp883Val) | |
4 | g.6302434_6302437delinsACTT | CA1435772786 | WFS1 | c.2675_2678delinsACTT (p.Asp892=) c.2616_2619delinsACTT c.2639_2642delinsACTT (p.Asp880=) c.2390_2393delinsACTT (p.Asp797=) n.2824_2827delinsACTT c.2648_2651delinsACTT (p.Asp883=) | |
4 | g.6302435C>A | CA356179633 | WFS1 | c.2676C>A (p.Asp892Glu) c.2617C>A c.2640C>A (p.Asp880Glu) c.2391C>A (p.Asp797Glu) n.2825C>A c.2649C>A (p.Asp883Glu) | |
4 | g.6302435C= | CA1435772791 | WFS1 | c.2676C= (p.Asp892=) c.2617C= c.2640C= (p.Asp880=) c.2391C= (p.Asp797=) n.2825C= c.2649C= (p.Asp883=) | |
4 | g.6302435C>G | CA356179635 | WFS1 | c.2676C>G (p.Asp892Glu) c.2617C>G c.2640C>G (p.Asp880Glu) c.2391C>G (p.Asp797Glu) n.2825C>G c.2649C>G (p.Asp883Glu) | gnomAD v4 |
4 | g.6302435C>T | CA2839819 | WFS1 | c.2676C>T (p.Asp892=) c.2617C>T c.2640C>T (p.Asp880=) c.2391C>T (p.Asp797=) n.2825C>T c.2649C>T (p.Asp883=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302435_6302439delinsCTTCT | CA1435772792 | WFS1 | c.2676_2680delinsCTTCT (p.Asp892=) c.2617_2621delinsCTTCT c.2640_2644delinsCTTCT (p.Asp880=) c.2391_2395delinsCTTCT (p.Asp797=) n.2825_2829delinsCTTCT c.2649_2653delinsCTTCT (p.Asp883=) | |
4 | g.6302438_6302440dup | CA1435772790 | WFS1 | c.2679_2681dup (p.Phe894_Phe895insPhe) c.2620_2622dup c.2643_2645dup (p.Phe882_Phe883insPhe) c.2394_2396dup (p.Phe799_Phe800insPhe) n.2828_2830dup c.2652_2654dup (p.Phe885_Phe886insPhe) | ClinVar dbSNP gnomAD v4 |
4 | g.6302438_6302440del | CA2839818 | WFS1 | c.2679_2681del (p.Phe894del) c.2620_2622del c.2643_2645del (p.Phe882del) c.2394_2396del (p.Phe799del) n.2828_2830del c.2652_2654del (p.Phe885del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302436T>A | CA356179642 | WFS1 | c.2677T>A (p.Phe893Ile) c.2618T>A c.2641T>A (p.Phe881Ile) c.2392T>A (p.Phe798Ile) n.2826T>A c.2650T>A (p.Phe884Ile) | |
4 | g.6302436T>C | CA356179647 | WFS1 | c.2677T>C (p.Phe893Leu) c.2618T>C c.2641T>C (p.Phe881Leu) c.2392T>C (p.Phe798Leu) n.2826T>C c.2650T>C (p.Phe884Leu) | |
4 | g.6302436T>G | CA356179645 | WFS1 | c.2677T>G (p.Phe893Val) c.2618T>G c.2641T>G (p.Phe881Val) c.2392T>G (p.Phe798Val) n.2826T>G c.2650T>G (p.Phe884Val) | |
4 | g.6302436_6302438delinsTTC | CA1435772794 | WFS1 | c.2677_2679delinsTTC (p.Phe893=) c.2618_2620delinsTTC c.2641_2643delinsTTC (p.Phe881=) c.2392_2394delinsTTC (p.Phe798=) n.2826_2828delinsTTC c.2650_2652delinsTTC (p.Phe884=) | |
4 | g.6302438_6302441del | CA549708054 | WFS1 | c.2679_2682del (p.Phe894SerfsTer?) c.2620_2623del c.2643_2646del (p.Phe882SerfsTer?) c.2394_2397del (p.Phe799SerfsTer?) n.2828_2831del c.2652_2655del (p.Phe885SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302437T>A | CA356179650 | WFS1 | c.2678T>A (p.Phe893Tyr) c.2619T>A c.2642T>A (p.Phe881Tyr) c.2393T>A (p.Phe798Tyr) n.2827T>A c.2651T>A (p.Phe884Tyr) | |
4 | g.6302437T>C | CA356179657 | WFS1 | c.2678T>C (p.Phe893Ser) c.2619T>C c.2642T>C (p.Phe881Ser) c.2393T>C (p.Phe798Ser) n.2827T>C c.2651T>C (p.Phe884Ser) | |
4 | g.6302437T>G | CA356179656 | WFS1 | c.2678T>G (p.Phe893Cys) c.2619T>G c.2642T>G (p.Phe881Cys) c.2393T>G (p.Phe798Cys) n.2827T>G c.2651T>G (p.Phe884Cys) | |
4 | g.6302438_6302439del | CA324155 | WFS1 | c.2679_2680del (p.Phe895LeufsTer?) c.2620_2621del c.2643_2644del (p.Phe883LeufsTer?) c.2394_2395del (p.Phe800LeufsTer?) n.2828_2829del c.2652_2653del (p.Phe886LeufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302438C>A | CA356179660 | WFS1 | c.2679C>A (p.Phe893Leu) c.2620C>A c.2643C>A (p.Phe881Leu) c.2394C>A (p.Phe798Leu) n.2828C>A c.2652C>A (p.Phe884Leu) | |
4 | g.6302438C>G | CA356179661 | WFS1 | c.2679C>G (p.Phe893Leu) c.2620C>G c.2643C>G (p.Phe881Leu) c.2394C>G (p.Phe798Leu) n.2828C>G c.2652C>G (p.Phe884Leu) | |
4 | g.6302438C>T | CA438211591 | WFS1 | c.2679C>T (p.Phe893=) c.2620C>T c.2643C>T (p.Phe881=) c.2394C>T (p.Phe798=) n.2828C>T c.2652C>T (p.Phe884=) | gnomAD v4 |
4 | g.6302438_6302441delinsCTTT | CA1435772797 | WFS1 | c.2679_2682delinsCTTT (p.Phe893=) c.2620_2623delinsCTTT c.2643_2646delinsCTTT (p.Phe881=) c.2394_2397delinsCTTT (p.Phe798=) n.2828_2831delinsCTTT c.2652_2655delinsCTTT (p.Phe884=) | |
4 | g.6302439T>A | CA356179662 | WFS1 | c.2680T>A (p.Phe894Ile) c.2621T>A c.2644T>A (p.Phe882Ile) c.2395T>A (p.Phe799Ile) n.2829T>A c.2653T>A (p.Phe885Ile) | |
4 | g.6302439T>C | CA356179663 | WFS1 | c.2680T>C (p.Phe894Leu) c.2621T>C c.2644T>C (p.Phe882Leu) c.2395T>C (p.Phe799Leu) n.2829T>C c.2653T>C (p.Phe885Leu) | |
4 | g.6302439T>G | CA356179664 | WFS1 | c.2680T>G (p.Phe894Val) c.2621T>G c.2644T>G (p.Phe882Val) c.2395T>G (p.Phe799Val) n.2829T>G c.2653T>G (p.Phe885Val) | |
4 | g.6302442_6302443del | CA2839820 | WFS1 | c.2683_2684del (p.Phe895LeufsTer?) c.2624_2625del c.2647_2648del (p.Phe883LeufsTer?) c.2398_2399del (p.Phe800LeufsTer?) n.2832_2833del c.2656_2657del (p.Phe886LeufsTer?) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.6302441_6302443del | CA549708055 | WFS1 | c.2682_2684del (p.Phe895del) c.2623_2625del c.2646_2648del (p.Phe883del) c.2397_2399del (p.Phe800del) n.2831_2833del c.2655_2657del (p.Phe886del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302440T>A | CA356179666 | WFS1 | c.2681T>A (p.Phe894Tyr) c.2622T>A c.2645T>A (p.Phe882Tyr) c.2396T>A (p.Phe799Tyr) n.2830T>A c.2654T>A (p.Phe885Tyr) | |
4 | g.6302440T>C | CA356179668 | WFS1 | c.2681T>C (p.Phe894Ser) c.2622T>C c.2645T>C (p.Phe882Ser) c.2396T>C (p.Phe799Ser) n.2830T>C c.2654T>C (p.Phe885Ser) | dbSNP |
4 | g.6302440T>G | CA2839821 | WFS1 | c.2681T>G (p.Phe894Cys) c.2622T>G c.2645T>G (p.Phe882Cys) c.2396T>G (p.Phe799Cys) n.2830T>G c.2654T>G (p.Phe885Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302440T= | CA1435772800 | WFS1 | c.2681T= (p.Phe894=) c.2622T= c.2645T= (p.Phe882=) c.2396T= (p.Phe799=) n.2830T= c.2654T= (p.Phe885=) | |
4 | g.6302440_6302444delinsTTTTC | CA1435772801 | WFS1 | c.2681_2685delinsTTTTC (p.Phe894=) c.2622_2626delinsTTTTC c.2645_2649delinsTTTTC (p.Phe882=) c.2396_2400delinsTTTTC (p.Phe799=) n.2830_2834delinsTTTTC c.2654_2658delinsTTTTC (p.Phe885=) | |
4 | g.6302441T>A | CA91797914 | WFS1 | c.2682T>A (p.Phe894Leu) c.2623T>A c.2646T>A (p.Phe882Leu) c.2397T>A (p.Phe799Leu) n.2831T>A c.2655T>A (p.Phe885Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302441T>C | CA438211593 | WFS1 | c.2682T>C (p.Phe894=) c.2623T>C c.2646T>C (p.Phe882=) c.2397T>C (p.Phe799=) n.2831T>C c.2655T>C (p.Phe885=) | gnomAD v4 |
4 | g.6302441T>G | CA356179678 | WFS1 | c.2682T>G (p.Phe894Leu) c.2623T>G c.2646T>G (p.Phe882Leu) c.2397T>G (p.Phe799Leu) n.2831T>G c.2655T>G (p.Phe885Leu) | dbSNP |
4 | g.6302441T= | CA1435772804 | WFS1 | c.2682T= (p.Phe894=) c.2623T= c.2646T= (p.Phe882=) c.2397T= (p.Phe799=) n.2831T= c.2655T= (p.Phe885=) | |
4 | g.6302443_6302446del | CA276185 | WFS1 | c.2684_2687del (p.Phe895SerfsTer?) c.2625_2628del c.2648_2651del (p.Phe883SerfsTer?) c.2399_2402del (p.Phe800SerfsTer?) n.2833_2836del c.2657_2660del (p.Phe886SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302442T>A | CA356179690 | WFS1 | c.2683T>A (p.Phe895Ile) c.2624T>A c.2647T>A (p.Phe883Ile) c.2398T>A (p.Phe800Ile) n.2832T>A c.2656T>A (p.Phe886Ile) | |
4 | g.6302442T>C | CA356179688 | WFS1 | c.2683T>C (p.Phe895Leu) c.2624T>C c.2647T>C (p.Phe883Leu) c.2398T>C (p.Phe800Leu) n.2832T>C c.2656T>C (p.Phe886Leu) | |
4 | g.6302442T>G | CA356179686 | WFS1 | c.2683T>G (p.Phe895Val) c.2624T>G c.2647T>G (p.Phe883Val) c.2398T>G (p.Phe800Val) n.2832T>G c.2656T>G (p.Phe886Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302442T= | CA1435772805 | WFS1 | c.2683T= (p.Phe895=) c.2624T= c.2647T= (p.Phe883=) c.2398T= (p.Phe800=) n.2832T= c.2656T= (p.Phe886=) | |
4 | g.6302443T>A | CA356179692 | WFS1 | c.2684T>A (p.Phe895Tyr) c.2625T>A c.2648T>A (p.Phe883Tyr) c.2399T>A (p.Phe800Tyr) n.2833T>A c.2657T>A (p.Phe886Tyr) | |
4 | g.6302443T>C | CA356179695 | WFS1 | c.2684T>C (p.Phe895Ser) c.2625T>C c.2648T>C (p.Phe883Ser) c.2399T>C (p.Phe800Ser) n.2833T>C c.2657T>C (p.Phe886Ser) | |
4 | g.6302443T>G | CA356179697 | WFS1 | c.2684T>G (p.Phe895Cys) c.2625T>G c.2648T>G (p.Phe883Cys) c.2399T>G (p.Phe800Cys) n.2833T>G c.2657T>G (p.Phe886Cys) | |
4 | g.6302443_6302444delinsTC | CA1435772807 | WFS1 | c.2684_2685delinsTC (p.Phe895=) c.2625_2626delinsTC c.2648_2649delinsTC (p.Phe883=) c.2399_2400delinsTC (p.Phe800=) n.2833_2834delinsTC c.2657_2658delinsTC (p.Phe886=) | |
4 | g.6302444del | CA91797917 | WFS1 | c.2685del (p.Phe896SerfsTer?) c.2626del c.2649del (p.Phe884SerfsTer?) c.2400del (p.Phe801SerfsTer?) n.2834del c.2658del (p.Phe887SerfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302444C>A | CA356179700 | WFS1 | c.2685C>A (p.Phe895Leu) c.2626C>A c.2649C>A (p.Phe883Leu) c.2400C>A (p.Phe800Leu) n.2834C>A c.2658C>A (p.Phe886Leu) | |
4 | g.6302444C>G | CA356179702 | WFS1 | c.2685C>G (p.Phe895Leu) c.2626C>G c.2649C>G (p.Phe883Leu) c.2400C>G (p.Phe800Leu) n.2834C>G c.2658C>G (p.Phe886Leu) | ClinVar |
4 | g.6302444C>T | CA438211599 | WFS1 | c.2685C>T (p.Phe895=) c.2626C>T c.2649C>T (p.Phe883=) c.2400C>T (p.Phe800=) n.2834C>T c.2658C>T (p.Phe886=) | |
4 | g.6302445T>A | CA356179705 | WFS1 | c.2686T>A (p.Phe896Ile) c.2627T>A c.2650T>A (p.Phe884Ile) c.2401T>A (p.Phe801Ile) n.2835T>A c.2659T>A (p.Phe887Ile) | |
4 | g.6302445T>C | CA356179708 | WFS1 | c.2686T>C (p.Phe896Leu) c.2627T>C c.2650T>C (p.Phe884Leu) c.2401T>C (p.Phe801Leu) n.2835T>C c.2659T>C (p.Phe887Leu) | |
4 | g.6302445T>G | CA2839822 | WFS1 | c.2686T>G (p.Phe896Val) c.2627T>G c.2650T>G (p.Phe884Val) c.2401T>G (p.Phe801Val) n.2835T>G c.2659T>G (p.Phe887Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302445T= | CA1435772809 | WFS1 | c.2686T= (p.Phe896=) c.2627T= c.2650T= (p.Phe884=) c.2401T= (p.Phe801=) n.2835T= c.2659T= (p.Phe887=) | |
4 | g.6302446T>A | CA320140 | WFS1 | c.2687T>A (p.Phe896Tyr) c.2628T>A c.2651T>A (p.Phe884Tyr) c.2402T>A (p.Phe801Tyr) n.2836T>A c.2660T>A (p.Phe887Tyr) | ClinVar dbSNP gnomAD v2 |
4 | g.6302446T>C | CA356179723 | WFS1 | c.2687T>C (p.Phe896Ser) c.2628T>C c.2651T>C (p.Phe884Ser) c.2402T>C (p.Phe801Ser) n.2836T>C c.2660T>C (p.Phe887Ser) | gnomAD v4 |
4 | g.6302446T>G | CA356179713 | WFS1 | c.2687T>G (p.Phe896Cys) c.2628T>G c.2651T>G (p.Phe884Cys) c.2402T>G (p.Phe801Cys) n.2836T>G c.2660T>G (p.Phe887Cys) | |
4 | g.6302446T= | CA1435772812 | WFS1 | c.2687T= (p.Phe896=) c.2628T= c.2651T= (p.Phe884=) c.2402T= (p.Phe801=) n.2836T= c.2660T= (p.Phe887=) | |
4 | g.6302447C>A | CA356179725 | WFS1 | c.2688C>A (p.Phe896Leu) c.2629C>A c.2652C>A (p.Phe884Leu) c.2403C>A (p.Phe801Leu) n.2837C>A c.2661C>A (p.Phe887Leu) | |
4 | g.6302447C= | CA1435772814 | WFS1 | c.2688C= (p.Phe896=) c.2629C= c.2652C= (p.Phe884=) c.2403C= (p.Phe801=) n.2837C= c.2661C= (p.Phe887=) | |
4 | g.6302447C>G | CA356179728 | WFS1 | c.2688C>G (p.Phe896Leu) c.2629C>G c.2652C>G (p.Phe884Leu) c.2403C>G (p.Phe801Leu) n.2837C>G c.2661C>G (p.Phe887Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.6302447C>T | CA438211602 | WFS1 | c.2688C>T (p.Phe896=) c.2629C>T c.2652C>T (p.Phe884=) c.2403C>T (p.Phe801=) n.2837C>T c.2661C>T (p.Phe887=) | gnomAD v4 COSMIC |
4 | g.6302448C>A | CA356179731 | WFS1 | c.2689C>A (p.Pro897Thr) c.2630C>A c.2653C>A (p.Pro885Thr) c.2404C>A (p.Pro802Thr) n.2838C>A c.2662C>A (p.Pro888Thr) | |
4 | g.6302448C= | CA1435772816 | WFS1 | c.2689C= (p.Pro897=) c.2630C= c.2653C= (p.Pro885=) c.2404C= (p.Pro802=) n.2838C= c.2662C= (p.Pro888=) | |
4 | g.6302448C>G | CA356179734 | WFS1 | c.2689C>G (p.Pro897Ala) c.2630C>G c.2653C>G (p.Pro885Ala) c.2404C>G (p.Pro802Ala) n.2838C>G c.2662C>G (p.Pro888Ala) | |
4 | g.6302448C>T | CA356179739 | WFS1 | c.2689C>T (p.Pro897Ser) c.2630C>T c.2653C>T (p.Pro885Ser) c.2404C>T (p.Pro802Ser) n.2838C>T c.2662C>T (p.Pro888Ser) | dbSNP COSMIC |
4 | g.6302449C>A | CA356179742 | WFS1 | c.2690C>A (p.Pro897Gln) c.2631C>A c.2654C>A (p.Pro885Gln) c.2405C>A (p.Pro802Gln) n.2839C>A c.2663C>A (p.Pro888Gln) | |
4 | g.6302449C= | CA1435772818 | WFS1 | c.2690C= (p.Pro897=) c.2631C= c.2654C= (p.Pro885=) c.2405C= (p.Pro802=) n.2839C= c.2663C= (p.Pro888=) | |
4 | g.6302449C>G | CA356179743 | WFS1 | c.2690C>G (p.Pro897Arg) c.2631C>G c.2654C>G (p.Pro885Arg) c.2405C>G (p.Pro802Arg) n.2839C>G c.2663C>G (p.Pro888Arg) | dbSNP gnomAD v4 |
4 | g.6302449C>T | CA2839823 | WFS1 | c.2690C>T (p.Pro897Leu) c.2631C>T c.2654C>T (p.Pro885Leu) c.2405C>T (p.Pro802Leu) n.2839C>T c.2663C>T (p.Pro888Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302450A= | CA1435772819 | WFS1 | c.2691A= (p.Pro897=) c.2632A= c.2655A= (p.Pro885=) c.2406A= (p.Pro802=) n.2840A= c.2664A= (p.Pro888=) | |
4 | g.6302450A>C | CA438211608 | WFS1 | c.2691A>C (p.Pro897=) c.2632A>C c.2655A>C (p.Pro885=) c.2406A>C (p.Pro802=) n.2840A>C c.2664A>C (p.Pro888=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302450A>G | CA438211606 | WFS1 | c.2691A>G (p.Pro897=) c.2632A>G c.2655A>G (p.Pro885=) c.2406A>G (p.Pro802=) n.2840A>G c.2664A>G (p.Pro888=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302450A>T | CA438211604 | WFS1 | c.2691A>T (p.Pro897=) c.2632A>T c.2655A>T (p.Pro885=) c.2406A>T (p.Pro802=) n.2840A>T c.2664A>T (p.Pro888=) | |
4 | g.6302451T>A | CA356179749 | WFS1 | c.2692T>A (p.Phe898Ile) c.2633T>A c.2656T>A (p.Phe886Ile) c.2407T>A (p.Phe803Ile) n.2841T>A c.2665T>A (p.Phe889Ile) | |
4 | g.6302451T>C | CA356179759 | WFS1 | c.2692T>C (p.Phe898Leu) c.2633T>C c.2656T>C (p.Phe886Leu) c.2407T>C (p.Phe803Leu) n.2841T>C c.2665T>C (p.Phe889Leu) | |
4 | g.6302451T>G | CA356179762 | WFS1 | c.2692T>G (p.Phe898Val) c.2633T>G c.2656T>G (p.Phe886Val) c.2407T>G (p.Phe803Val) n.2841T>G c.2665T>G (p.Phe889Val) | |
4 | g.6302451_6302452insA | CA2586973661 | WFS1 | c.2692_2693insA (p.Phe898TyrfsTer?) c.2633_2634insA c.2656_2657insA (p.Phe886TyrfsTer?) c.2407_2408insA (p.Phe803TyrfsTer?) n.2841_2842insA c.2665_2666insA (p.Phe889TyrfsTer?) | gnomAD v4 |
4 | g.6302452T>A | CA356179772 | WFS1 | c.2693T>A (p.Phe898Tyr) c.2634T>A c.2657T>A (p.Phe886Tyr) c.2408T>A (p.Phe803Tyr) n.2842T>A c.2666T>A (p.Phe889Tyr) | |
4 | g.6302452T>C | CA356179774 | WFS1 | c.2693T>C (p.Phe898Ser) c.2634T>C c.2657T>C (p.Phe886Ser) c.2408T>C (p.Phe803Ser) n.2842T>C c.2666T>C (p.Phe889Ser) | |
4 | g.6302452T>G | CA356179766 | WFS1 | c.2693T>G (p.Phe898Cys) c.2634T>G c.2657T>G (p.Phe886Cys) c.2408T>G (p.Phe803Cys) n.2842T>G c.2666T>G (p.Phe889Cys) | gnomAD v4 |
4 | g.6302453C>A | CA356179776 | WFS1 | c.2694C>A (p.Phe898Leu) c.2635C>A c.2658C>A (p.Phe886Leu) c.2409C>A (p.Phe803Leu) n.2843C>A c.2667C>A (p.Phe889Leu) | dbSNP |
4 | g.6302453C= | CA1435772821 | WFS1 | c.2694C= (p.Phe898=) c.2635C= c.2658C= (p.Phe886=) c.2409C= (p.Phe803=) n.2843C= c.2667C= (p.Phe889=) | |
4 | g.6302453C>G | CA356179780 | WFS1 | c.2694C>G (p.Phe898Leu) c.2635C>G c.2658C>G (p.Phe886Leu) c.2409C>G (p.Phe803Leu) n.2843C>G c.2667C>G (p.Phe889Leu) | dbSNP gnomAD v4 |
4 | g.6302453C>T | CA2839824 | WFS1 | c.2694C>T (p.Phe898=) c.2635C>T c.2658C>T (p.Phe886=) c.2409C>T (p.Phe803=) n.2843C>T c.2667C>T (p.Phe889=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302454C>A | CA356179786 | WFS1 | c.2695C>A (p.Leu899Met) c.2636C>A c.2659C>A (p.Leu887Met) c.2410C>A (p.Leu804Met) n.2844C>A c.2668C>A (p.Leu890Met) | |
4 | g.6302454C= | CA1435772822 | WFS1 | c.2695C= (p.Leu899=) c.2636C= c.2659C= (p.Leu887=) c.2410C= (p.Leu804=) n.2844C= c.2668C= (p.Leu890=) | |
4 | g.6302454C>G | CA356179791 | WFS1 | c.2695C>G (p.Leu899Val) c.2636C>G c.2659C>G (p.Leu887Val) c.2410C>G (p.Leu804Val) n.2844C>G c.2668C>G (p.Leu890Val) | gnomAD v4 |
4 | g.6302454C>T | CA438211609 | WFS1 | c.2695C>T (p.Leu899=) c.2636C>T c.2659C>T (p.Leu887=) c.2410C>T (p.Leu804=) n.2844C>T c.2668C>T (p.Leu890=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302455T>A | CA356179796 | WFS1 | c.2696T>A (p.Leu899Gln) c.2637T>A c.2660T>A (p.Leu887Gln) c.2411T>A (p.Leu804Gln) n.2845T>A c.2669T>A (p.Leu890Gln) | |
4 | g.6302455T>C | CA356179794 | WFS1 | c.2696T>C (p.Leu899Pro) c.2637T>C c.2660T>C (p.Leu887Pro) c.2411T>C (p.Leu804Pro) n.2845T>C c.2669T>C (p.Leu890Pro) | |
4 | g.6302455T>G | CA356179795 | WFS1 | c.2696T>G (p.Leu899Arg) c.2637T>G c.2660T>G (p.Leu887Arg) c.2411T>G (p.Leu804Arg) n.2845T>G c.2669T>G (p.Leu890Arg) | |
4 | g.6302456G>A | CA438211610 | WFS1 | c.2697G>A (p.Leu899=) c.2638G>A c.2661G>A (p.Leu887=) c.2412G>A (p.Leu804=) n.2846G>A c.2670G>A (p.Leu890=) | dbSNP gnomAD v4 |
4 | g.6302456G>C | CA438211611 | WFS1 | c.2697G>C (p.Leu899=) c.2638G>C c.2661G>C (p.Leu887=) c.2412G>C (p.Leu804=) n.2846G>C c.2670G>C (p.Leu890=) | |
4 | g.6302456G= | CA1435772823 | WFS1 | c.2697G= (p.Leu899=) c.2638G= c.2661G= (p.Leu887=) c.2412G= (p.Leu804=) n.2846G= c.2670G= (p.Leu890=) | |
4 | g.6302456G>T | CA438211612 | WFS1 | c.2697G>T (p.Leu899=) c.2638G>T c.2661G>T (p.Leu887=) c.2412G>T (p.Leu804=) n.2846G>T c.2670G>T (p.Leu890=) | |
4 | g.6302457T>A | CA356179797 | WFS1 | c.2698T>A (p.Ser900Thr) c.2639T>A c.2662T>A (p.Ser888Thr) c.2413T>A (p.Ser805Thr) n.2847T>A c.2671T>A (p.Ser891Thr) | |
4 | g.6302457T>C | CA356179798 | WFS1 | c.2698T>C (p.Ser900Pro) c.2639T>C c.2662T>C (p.Ser888Pro) c.2413T>C (p.Ser805Pro) n.2847T>C c.2671T>C (p.Ser891Pro) | |
4 | g.6302457T>G | CA356179806 | WFS1 | c.2698T>G (p.Ser900Ala) c.2639T>G c.2662T>G (p.Ser888Ala) c.2413T>G (p.Ser805Ala) n.2847T>G c.2671T>G (p.Ser891Ala) | ClinVar dbSNP |
4 | g.6302457T= | CA1435772825 | WFS1 | c.2698T= (p.Ser900=) c.2639T= c.2662T= (p.Ser888=) c.2413T= (p.Ser805=) n.2847T= c.2671T= (p.Ser891=) | |
4 | g.6302457_6302460delinsTCGG | CA1435772824 | WFS1 | c.2698_2701delinsTCGG (p.Ser900=) c.2639_2642delinsTCGG c.2662_2665delinsTCGG (p.Ser888=) c.2413_2416delinsTCGG (p.Ser805=) n.2847_2850delinsTCGG c.2671_2674delinsTCGG (p.Ser891=) |