Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6302232G>A | CA2839737 | WFS1 | c.2473G>A (p.Val825Met) c.2414G>A c.2437G>A (p.Val813Met) c.2188G>A (p.Val730Met) n.2622G>A c.2446G>A (p.Val816Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302232G>C | CA91797198 | WFS1 | c.2473G>C (p.Val825Leu) c.2414G>C c.2437G>C (p.Val813Leu) c.2188G>C (p.Val730Leu) n.2622G>C c.2446G>C (p.Val816Leu) | dbSNP |
4 | g.6302232G= | CA1435772503 | WFS1 | c.2473G= (p.Val825=) c.2414G= c.2437G= (p.Val813=) c.2188G= (p.Val730=) n.2622G= c.2446G= (p.Val816=) | |
4 | g.6302232G>T | CA356178581 | WFS1 | c.2473G>T (p.Val825Leu) c.2414G>T c.2437G>T (p.Val813Leu) c.2188G>T (p.Val730Leu) n.2622G>T c.2446G>T (p.Val816Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302233T>A | CA356178582 | WFS1 | c.2474T>A (p.Val825Glu) c.2415T>A c.2438T>A (p.Val813Glu) c.2189T>A (p.Val730Glu) n.2623T>A c.2447T>A (p.Val816Glu) | |
4 | g.6302233T>C | CA356178583 | WFS1 | c.2474T>C (p.Val825Ala) c.2415T>C c.2438T>C (p.Val813Ala) c.2189T>C (p.Val730Ala) n.2623T>C c.2447T>C (p.Val816Ala) | |
4 | g.6302233T>G | CA356178584 | WFS1 | c.2474T>G (p.Val825Gly) c.2415T>G c.2438T>G (p.Val813Gly) c.2189T>G (p.Val730Gly) n.2623T>G c.2447T>G (p.Val816Gly) | |
4 | g.6302234G>A | CA438368308 | WFS1 | c.2475G>A (p.Val825=) c.2416G>A c.2439G>A (p.Val813=) c.2190G>A (p.Val730=) n.2624G>A c.2448G>A (p.Val816=) | |
4 | g.6302234G>C | CA438368307 | WFS1 | c.2475G>C (p.Val825=) c.2416G>C c.2439G>C (p.Val813=) c.2190G>C (p.Val730=) n.2624G>C c.2448G>C (p.Val816=) | dbSNP gnomAD v4 |
4 | g.6302234G= | CA1435772505 | WFS1 | c.2475G= (p.Val825=) c.2416G= c.2439G= (p.Val813=) c.2190G= (p.Val730=) n.2624G= c.2448G= (p.Val816=) | |
4 | g.6302234G>T | CA438368306 | WFS1 | c.2475G>T (p.Val825=) c.2416G>T c.2439G>T (p.Val813=) c.2190G>T (p.Val730=) n.2624G>T c.2448G>T (p.Val816=) | gnomAD v4 |
4 | g.6302235C>A | CA356178585 | WFS1 | c.2476C>A (p.Leu826Met) c.2417C>A c.2440C>A (p.Leu814Met) c.2191C>A (p.Leu731Met) n.2625C>A c.2449C>A (p.Leu817Met) | gnomAD v4 |
4 | g.6302235C>G | CA356178586 | WFS1 | c.2476C>G (p.Leu826Val) c.2417C>G c.2440C>G (p.Leu814Val) c.2191C>G (p.Leu731Val) n.2625C>G c.2449C>G (p.Leu817Val) | |
4 | g.6302235C>T | CA438368309 | WFS1 | c.2476C>T (p.Leu826=) c.2417C>T c.2440C>T (p.Leu814=) c.2191C>T (p.Leu731=) n.2625C>T c.2449C>T (p.Leu817=) | gnomAD v4 |
4 | g.6302236T>A | CA356178587 | WFS1 | c.2477T>A (p.Leu826Gln) c.2418T>A c.2441T>A (p.Leu814Gln) c.2192T>A (p.Leu731Gln) n.2626T>A c.2450T>A (p.Leu817Gln) | |
4 | g.6302236T>C | CA356178588 | WFS1 | c.2477T>C (p.Leu826Pro) c.2418T>C c.2441T>C (p.Leu814Pro) c.2192T>C (p.Leu731Pro) n.2626T>C c.2450T>C (p.Leu817Pro) | |
4 | g.6302236T>G | CA356178589 | WFS1 | c.2477T>G (p.Leu826Arg) c.2418T>G c.2441T>G (p.Leu814Arg) c.2192T>G (p.Leu731Arg) n.2626T>G c.2450T>G (p.Leu817Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302236T= | CA1435772506 | WFS1 | c.2477T= (p.Leu826=) c.2418T= c.2441T= (p.Leu814=) c.2192T= (p.Leu731=) n.2626T= c.2450T= (p.Leu817=) | |
4 | g.6302237G>A | CA438368310 | WFS1 | c.2478G>A (p.Leu826=) c.2419G>A c.2442G>A (p.Leu814=) c.2193G>A (p.Leu731=) n.2627G>A c.2451G>A (p.Leu817=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302237G>C | CA438368311 | WFS1 | c.2478G>C (p.Leu826=) c.2419G>C c.2442G>C (p.Leu814=) c.2193G>C (p.Leu731=) n.2627G>C c.2451G>C (p.Leu817=) | gnomAD v4 |
4 | g.6302237G= | CA1435772507 | WFS1 | c.2478G= (p.Leu826=) c.2419G= c.2442G= (p.Leu814=) c.2193G= (p.Leu731=) n.2627G= c.2451G= (p.Leu817=) | |
4 | g.6302237G>T | CA438368312 | WFS1 | c.2478G>T (p.Leu826=) c.2419G>T c.2442G>T (p.Leu814=) c.2193G>T (p.Leu731=) n.2627G>T c.2451G>T (p.Leu817=) | |
4 | g.6302238C>A | CA356178592 | WFS1 | c.2479C>A (p.Leu827Ile) c.2420C>A c.2443C>A (p.Leu815Ile) c.2194C>A (p.Leu732Ile) n.2628C>A c.2452C>A (p.Leu818Ile) | |
4 | g.6302238C= | CA1435772509 | WFS1 | c.2479C= (p.Leu827=) c.2420C= c.2443C= (p.Leu815=) c.2194C= (p.Leu732=) n.2628C= c.2452C= (p.Leu818=) | |
4 | g.6302238C>G | CA356178591 | WFS1 | c.2479C>G (p.Leu827Val) c.2420C>G c.2443C>G (p.Leu815Val) c.2194C>G (p.Leu732Val) n.2628C>G c.2452C>G (p.Leu818Val) | |
4 | g.6302238C>T | CA356178590 | WFS1 | c.2479C>T (p.Leu827Phe) c.2420C>T c.2443C>T (p.Leu815Phe) c.2194C>T (p.Leu732Phe) n.2628C>T c.2452C>T (p.Leu818Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302239T>A | CA356178593 | WFS1 | c.2480T>A (p.Leu827His) c.2421T>A c.2444T>A (p.Leu815His) c.2195T>A (p.Leu732His) n.2629T>A c.2453T>A (p.Leu818His) | |
4 | g.6302239T>C | CA356178594 | WFS1 | c.2480T>C (p.Leu827Pro) c.2421T>C c.2444T>C (p.Leu815Pro) c.2195T>C (p.Leu732Pro) n.2629T>C c.2453T>C (p.Leu818Pro) | |
4 | g.6302239T>G | CA356178595 | WFS1 | c.2480T>G (p.Leu827Arg) c.2421T>G c.2444T>G (p.Leu815Arg) c.2195T>G (p.Leu732Arg) n.2629T>G c.2453T>G (p.Leu818Arg) | gnomAD v4 |
4 | g.6302239_6302240insG | CA2554158005 | WFS1 | c.2480_2481insG (p.Ser828GlnfsTer?) c.2421_2422insG c.2444_2445insG (p.Ser816GlnfsTer?) c.2195_2196insG (p.Ser733GlnfsTer?) n.2629_2630insG c.2453_2454insG (p.Ser819GlnfsTer?) | |
4 | g.6302240C>A | CA2839738 | WFS1 | c.2481C>A (p.Leu827=) c.2422C>A c.2445C>A (p.Leu815=) c.2196C>A (p.Leu732=) n.2630C>A c.2454C>A (p.Leu818=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302240C= | CA1435772511 | WFS1 | c.2481C= (p.Leu827=) c.2422C= c.2445C= (p.Leu815=) c.2196C= (p.Leu732=) n.2630C= c.2454C= (p.Leu818=) | |
4 | g.6302240C>G | CA2839739 | WFS1 | c.2481C>G (p.Leu827=) c.2422C>G c.2445C>G (p.Leu815=) c.2196C>G (p.Leu732=) n.2630C>G c.2454C>G (p.Leu818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302240C>T | CA2839740 | WFS1 | c.2481C>T (p.Leu827=) c.2422C>T c.2445C>T (p.Leu815=) c.2196C>T (p.Leu732=) n.2630C>T c.2454C>T (p.Leu818=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302240_6302241insTTTTTTA | CA2669843467 | WFS1 | c.2481_2482insTTTTTTA (p.Ser828PhefsTer?) c.2422_2423insTTTTTTA c.2445_2446insTTTTTTA (p.Ser816PhefsTer?) c.2196_2197insTTTTTTA (p.Ser733PhefsTer?) n.2630_2631insTTTTTTA c.2454_2455insTTTTTTA (p.Ser819PhefsTer?) | gnomAD v4 |
4 | g.6302241A= | CA1435772514 | WFS1 | c.2482A= (p.Ser828=) c.2423A= c.2446A= (p.Ser816=) c.2197A= (p.Ser733=) n.2631A= c.2455A= (p.Ser819=) | |
4 | g.6302241A>C | CA2839742 | WFS1 | c.2482A>C (p.Ser828Arg) c.2423A>C c.2446A>C (p.Ser816Arg) c.2197A>C (p.Ser733Arg) n.2631A>C c.2455A>C (p.Ser819Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302241A>G | CA2839741 | WFS1 | c.2482A>G (p.Ser828Gly) c.2423A>G c.2446A>G (p.Ser816Gly) c.2197A>G (p.Ser733Gly) n.2631A>G c.2455A>G (p.Ser819Gly) | dbSNP ExAC gnomAD v2 |
4 | g.6302241A>T | CA356178596 | WFS1 | c.2482A>T (p.Ser828Cys) c.2423A>T c.2446A>T (p.Ser816Cys) c.2197A>T (p.Ser733Cys) n.2631A>T c.2455A>T (p.Ser819Cys) | |
4 | g.6302242del | CA2524291021 | WFS1 | c.2483del (p.Ser828ThrfsTer?) c.2424del c.2447del (p.Ser816ThrfsTer?) c.2198del (p.Ser733ThrfsTer?) n.2632del c.2456del (p.Ser819ThrfsTer?) | |
4 | g.6302242G>A | CA356178597 | WFS1 | c.2483G>A (p.Ser828Asn) c.2424G>A c.2447G>A (p.Ser816Asn) c.2198G>A (p.Ser733Asn) n.2632G>A c.2456G>A (p.Ser819Asn) | |
4 | g.6302242G>C | CA356178598 | WFS1 | c.2483G>C (p.Ser828Thr) c.2424G>C c.2447G>C (p.Ser816Thr) c.2198G>C (p.Ser733Thr) n.2632G>C c.2456G>C (p.Ser819Thr) | |
4 | g.6302242G>T | CA356178599 | WFS1 | c.2483G>T (p.Ser828Ile) c.2424G>T c.2447G>T (p.Ser816Ile) c.2198G>T (p.Ser733Ile) n.2632G>T c.2456G>T (p.Ser819Ile) | |
4 | g.6302242_6302244del | CA2669843468 | WFS1 | c.2483_2485del (p.Ser828_Leu829delinsMet) c.2424_2426del c.2447_2449del (p.Ser816_Leu817delinsMet) c.2198_2200del (p.Ser733_Leu734delinsMet) n.2632_2634del c.2456_2458del (p.Ser819_Leu820delinsMet) | gnomAD v4 |
4 | g.6302243C>A | CA356178600 | WFS1 | c.2484C>A (p.Ser828Arg) c.2425C>A c.2448C>A (p.Ser816Arg) c.2199C>A (p.Ser733Arg) n.2633C>A c.2457C>A (p.Ser819Arg) | |
4 | g.6302243C= | CA1435772516 | WFS1 | c.2484C= (p.Ser828=) c.2425C= c.2448C= (p.Ser816=) c.2199C= (p.Ser733=) n.2633C= c.2457C= (p.Ser819=) | |
4 | g.6302243C>G | CA356178601 | WFS1 | c.2484C>G (p.Ser828Arg) c.2425C>G c.2448C>G (p.Ser816Arg) c.2199C>G (p.Ser733Arg) n.2633C>G c.2457C>G (p.Ser819Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302243C>T | CA438368313 | WFS1 | c.2484C>T (p.Ser828=) c.2425C>T c.2448C>T (p.Ser816=) c.2199C>T (p.Ser733=) n.2633C>T c.2457C>T (p.Ser819=) | gnomAD v4 |
4 | g.6302244C>A | CA2839744 | WFS1 | c.2485C>A (p.Leu829Met) c.2426C>A c.2449C>A (p.Leu817Met) c.2200C>A (p.Leu734Met) n.2634C>A c.2458C>A (p.Leu820Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302244C= | CA1435772519 | WFS1 | c.2485C= (p.Leu829=) c.2426C= c.2449C= (p.Leu817=) c.2200C= (p.Leu734=) n.2634C= c.2458C= (p.Leu820=) | |
4 | g.6302244C>G | CA356178602 | WFS1 | c.2485C>G (p.Leu829Val) c.2426C>G c.2449C>G (p.Leu817Val) c.2200C>G (p.Leu734Val) n.2634C>G c.2458C>G (p.Leu820Val) | ClinVar gnomAD v4 |
4 | g.6302244C>T | CA2839743 | WFS1 | c.2485C>T (p.Leu829=) c.2426C>T c.2449C>T (p.Leu817=) c.2200C>T (p.Leu734=) n.2634C>T c.2458C>T (p.Leu820=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302245T>A | CA356178603 | WFS1 | c.2486T>A (p.Leu829Gln) c.2427T>A c.2450T>A (p.Leu817Gln) c.2201T>A (p.Leu734Gln) n.2635T>A c.2459T>A (p.Leu820Gln) | |
4 | g.6302245T>C | CA356178604 | WFS1 | c.2486T>C (p.Leu829Pro) c.2427T>C c.2450T>C (p.Leu817Pro) c.2201T>C (p.Leu734Pro) n.2635T>C c.2459T>C (p.Leu820Pro) | |
4 | g.6302245T>G | CA356178605 | WFS1 | c.2486T>G (p.Leu829Arg) c.2427T>G c.2450T>G (p.Leu817Arg) c.2201T>G (p.Leu734Arg) n.2635T>G c.2459T>G (p.Leu820Arg) | |
4 | g.6302246G>A | CA438368314 | WFS1 | c.2487G>A (p.Leu829=) c.2428G>A c.2451G>A (p.Leu817=) c.2202G>A (p.Leu734=) n.2636G>A c.2460G>A (p.Leu820=) | |
4 | g.6302246G>C | CA438368315 | WFS1 | c.2487G>C (p.Leu829=) c.2428G>C c.2451G>C (p.Leu817=) c.2202G>C (p.Leu734=) n.2636G>C c.2460G>C (p.Leu820=) | |
4 | g.6302246G>T | CA438368316 | WFS1 | c.2487G>T (p.Leu829=) c.2428G>T c.2451G>T (p.Leu817=) c.2202G>T (p.Leu734=) n.2636G>T c.2460G>T (p.Leu820=) | |
4 | g.6302246_6302247insATA | CA2669843469 | WFS1 | c.2487_2488insATA (p.Leu829_Arg830insIle) c.2428_2429insATA c.2451_2452insATA (p.Leu817_Arg818insIle) c.2202_2203insATA (p.Leu734_Arg735insIle) n.2636_2637insATA c.2460_2461insATA (p.Leu820_Arg821insIle) | gnomAD v4 |
4 | g.6302247C>A | CA356178606 | WFS1 | c.2488C>A (p.Arg830Ser) c.2429C>A c.2452C>A (p.Arg818Ser) c.2203C>A (p.Arg735Ser) n.2637C>A c.2461C>A (p.Arg821Ser) | gnomAD v4 |
4 | g.6302247C= | CA1435772520 | WFS1 | c.2488C= (p.Arg830=) c.2429C= c.2452C= (p.Arg818=) c.2203C= (p.Arg735=) n.2637C= c.2461C= (p.Arg821=) | |
4 | g.6302247C>G | CA356178607 | WFS1 | c.2488C>G (p.Arg830Gly) c.2429C>G c.2452C>G (p.Arg818Gly) c.2203C>G (p.Arg735Gly) n.2637C>G c.2461C>G (p.Arg821Gly) | |
4 | g.6302247C>T | CA289140 | WFS1 | c.2488C>T (p.Arg830Cys) c.2429C>T c.2452C>T (p.Arg818Cys) c.2203C>T (p.Arg735Cys) n.2637C>T c.2461C>T (p.Arg821Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302247_6302295delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG | CA1435772522 | WFS1 | c.2488_2536delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg830=) c.2429_2477delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2452_2500delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg818=) c.2203_2251delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg735=) n.2637_2685delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG c.2461_2509delinsCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGG (p.Arg821=) | |
4 | g.6302247_6302248insA | CA2760271236 | WFS1 | c.2488_2489insA (p.Arg830GlnfsTer?) c.2429_2430insA c.2452_2453insA (p.Arg818GlnfsTer?) c.2203_2204insA (p.Arg735GlnfsTer?) n.2637_2638insA c.2461_2462insA (p.Arg821GlnfsTer?) | |
4 | g.6302248G>A | CA321767 | WFS1 | c.2489G>A (p.Arg830His) c.2430G>A c.2453G>A (p.Arg818His) c.2204G>A (p.Arg735His) n.2638G>A c.2462G>A (p.Arg821His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302248G>C | CA356178608 | WFS1 | c.2489G>C (p.Arg830Pro) c.2430G>C c.2453G>C (p.Arg818Pro) c.2204G>C (p.Arg735Pro) n.2638G>C c.2462G>C (p.Arg821Pro) | |
4 | g.6302248G= | CA1435772524 | WFS1 | c.2489G= (p.Arg830=) c.2430G= c.2453G= (p.Arg818=) c.2204G= (p.Arg735=) n.2638G= c.2462G= (p.Arg821=) | |
4 | g.6302248G>T | CA356178609 | WFS1 | c.2489G>T (p.Arg830Leu) c.2430G>T c.2453G>T (p.Arg818Leu) c.2204G>T (p.Arg735Leu) n.2638G>T c.2462G>T (p.Arg821Leu) | gnomAD v4 |
4 | g.6302249_6302253del | CA2669843470 | WFS1 | c.2490_2494del (p.Gly832ProfsTer?) c.2431_2435del c.2454_2458del (p.Gly820ProfsTer?) c.2205_2209del (p.Gly737ProfsTer?) n.2639_2643del c.2463_2467del (p.Gly823ProfsTer?) | gnomAD v4 |
4 | g.6302250_6302297del | CA1435772523 | WFS1 | c.2491_2538del (p.Gln831_Gly846del) c.2432_2479del c.2455_2502del (p.Gln819_Gly834del) c.2206_2253del (p.Gln736_Gly751del) n.2640_2687del c.2464_2511del (p.Gln822_Gly837del) | ClinVar dbSNP gnomAD v4 |
4 | g.6302248_6302249insAGT | CA2760271237 | WFS1 | c.2489_2490insAGT (p.Arg830_Gln831insVal) c.2430_2431insAGT c.2453_2454insAGT (p.Arg818_Gln819insVal) c.2204_2205insAGT (p.Arg735_Gln736insVal) n.2638_2639insAGT c.2462_2463insAGT (p.Arg821_Gln822insVal) | |
4 | g.6302249C>A | CA438368318 | WFS1 | c.2490C>A (p.Arg830=) c.2431C>A c.2454C>A (p.Arg818=) c.2205C>A (p.Arg735=) n.2639C>A c.2463C>A (p.Arg821=) | |
4 | g.6302249C= | CA1435772526 | WFS1 | c.2490C= (p.Arg830=) c.2431C= c.2454C= (p.Arg818=) c.2205C= (p.Arg735=) n.2639C= c.2463C= (p.Arg821=) | |
4 | g.6302249C>G | CA438368317 | WFS1 | c.2490C>G (p.Arg830=) c.2431C>G c.2454C>G (p.Arg818=) c.2205C>G (p.Arg735=) n.2639C>G c.2463C>G (p.Arg821=) | |
4 | g.6302249C>T | CA182630 | WFS1 | c.2490C>T (p.Arg830=) c.2431C>T c.2454C>T (p.Arg818=) c.2205C>T (p.Arg735=) n.2639C>T c.2463C>T (p.Arg821=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302250C>A | CA356178610 | WFS1 | c.2491C>A (p.Gln831Lys) c.2432C>A c.2455C>A (p.Gln819Lys) c.2206C>A (p.Gln736Lys) n.2640C>A c.2464C>A (p.Gln822Lys) | |
4 | g.6302250C= | CA1435772528 | WFS1 | c.2491C= (p.Gln831=) c.2432C= c.2455C= (p.Gln819=) c.2206C= (p.Gln736=) n.2640C= c.2464C= (p.Gln822=) | |
4 | g.6302250C>G | CA356178611 | WFS1 | c.2491C>G (p.Gln831Glu) c.2432C>G c.2455C>G (p.Gln819Glu) c.2206C>G (p.Gln736Glu) n.2640C>G c.2464C>G (p.Gln822Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302250C>T | CA253194 | WFS1 | c.2491C>T (p.Gln831Ter) c.2432C>T c.2455C>T (p.Gln819Ter) c.2206C>T (p.Gln736Ter) n.2640C>T c.2464C>T (p.Gln822Ter) | ClinVar dbSNP |
4 | g.6302251A= | CA1435772531 | WFS1 | c.2492A= (p.Gln831=) c.2433A= c.2456A= (p.Gln819=) c.2207A= (p.Gln736=) n.2641A= c.2465A= (p.Gln822=) | |
4 | g.6302251A>C | CA356178614 | WFS1 | c.2492A>C (p.Gln831Pro) c.2433A>C c.2456A>C (p.Gln819Pro) c.2207A>C (p.Gln736Pro) n.2641A>C c.2465A>C (p.Gln822Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302251A>G | CA356178612 | WFS1 | c.2492A>G (p.Gln831Arg) c.2433A>G c.2456A>G (p.Gln819Arg) c.2207A>G (p.Gln736Arg) n.2641A>G c.2465A>G (p.Gln822Arg) | dbSNP gnomAD v4 |
4 | g.6302251A>T | CA356178613 | WFS1 | c.2492A>T (p.Gln831Leu) c.2433A>T c.2456A>T (p.Gln819Leu) c.2207A>T (p.Gln736Leu) n.2641A>T c.2465A>T (p.Gln822Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302252G>A | CA438368319 | WFS1 | c.2493G>A (p.Gln831=) c.2434G>A c.2457G>A (p.Gln819=) c.2208G>A (p.Gln736=) n.2642G>A c.2466G>A (p.Gln822=) | dbSNP gnomAD v2 |
4 | g.6302252G>C | CA356178615 | WFS1 | c.2493G>C (p.Gln831His) c.2434G>C c.2457G>C (p.Gln819His) c.2208G>C (p.Gln736His) n.2642G>C c.2466G>C (p.Gln822His) | |
4 | g.6302252G= | CA1435772532 | WFS1 | c.2493G= (p.Gln831=) c.2434G= c.2457G= (p.Gln819=) c.2208G= (p.Gln736=) n.2642G= c.2466G= (p.Gln822=) | |
4 | g.6302252G>T | CA356178616 | WFS1 | c.2493G>T (p.Gln831His) c.2434G>T c.2457G>T (p.Gln819His) c.2208G>T (p.Gln736His) n.2642G>T c.2466G>T (p.Gln822His) | |
4 | g.6302254del | CA2841725579 | WFS1 | c.2495del (p.Gly832AlafsTer?) c.2436del c.2459del (p.Gly820AlafsTer?) c.2210del (p.Gly737AlafsTer?) n.2644del c.2468del (p.Gly823AlafsTer?) | |
4 | g.6302253G>A | CA356178617 | WFS1 | c.2494G>A (p.Gly832Ser) c.2435G>A c.2458G>A (p.Gly820Ser) c.2209G>A (p.Gly737Ser) n.2643G>A c.2467G>A (p.Gly823Ser) | |
4 | g.6302253G>C | CA2839745 | WFS1 | c.2494G>C (p.Gly832Arg) c.2435G>C c.2458G>C (p.Gly820Arg) c.2209G>C (p.Gly737Arg) n.2643G>C c.2467G>C (p.Gly823Arg) | dbSNP ExAC gnomAD v2 |
4 | g.6302253G= | CA1435772534 | WFS1 | c.2494G= (p.Gly832=) c.2435G= c.2458G= (p.Gly820=) c.2209G= (p.Gly737=) n.2643G= c.2467G= (p.Gly823=) | |
4 | g.6302253G>T | CA356178618 | WFS1 | c.2494G>T (p.Gly832Cys) c.2435G>T c.2458G>T (p.Gly820Cys) c.2209G>T (p.Gly737Cys) n.2643G>T c.2467G>T (p.Gly823Cys) | |
4 | g.6302254G>A | CA2839747 | WFS1 | c.2495G>A (p.Gly832Asp) c.2436G>A c.2459G>A (p.Gly820Asp) c.2210G>A (p.Gly737Asp) n.2644G>A c.2468G>A (p.Gly823Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302254G>C | CA356178619 | WFS1 | c.2495G>C (p.Gly832Ala) c.2436G>C c.2459G>C (p.Gly820Ala) c.2210G>C (p.Gly737Ala) n.2644G>C c.2468G>C (p.Gly823Ala) | |
4 | g.6302254G= | CA1435772535 | WFS1 | c.2495G= (p.Gly832=) c.2436G= c.2459G= (p.Gly820=) c.2210G= (p.Gly737=) n.2644G= c.2468G= (p.Gly823=) | |
4 | g.6302254G>T | CA2839746 | WFS1 | c.2495G>T (p.Gly832Val) c.2436G>T c.2459G>T (p.Gly820Val) c.2210G>T (p.Gly737Val) n.2644G>T c.2468G>T (p.Gly823Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302254_6302255insA | CA2760271238 | WFS1 | c.2495_2496insA (p.Ser833GlnfsTer?) c.2436_2437insA c.2459_2460insA (p.Ser821GlnfsTer?) c.2210_2211insA (p.Ser738GlnfsTer?) n.2644_2645insA c.2468_2469insA (p.Ser824GlnfsTer?) | |
4 | g.6302255C>A | CA438368320 | WFS1 | c.2496C>A (p.Gly832=) c.2437C>A c.2460C>A (p.Gly820=) c.2211C>A (p.Gly737=) n.2645C>A c.2469C>A (p.Gly823=) | |
4 | g.6302255C>G | CA438368321 | WFS1 | c.2496C>G (p.Gly832=) c.2437C>G c.2460C>G (p.Gly820=) c.2211C>G (p.Gly737=) n.2645C>G c.2469C>G (p.Gly823=) | |
4 | g.6302255C>T | CA438368322 | WFS1 | c.2496C>T (p.Gly832=) c.2437C>T c.2460C>T (p.Gly820=) c.2211C>T (p.Gly737=) n.2645C>T c.2469C>T (p.Gly823=) | |
4 | g.6302256del | CA2669843471 | WFS1 | c.2497del (p.Ser833AlafsTer?) c.2438del c.2461del (p.Ser821AlafsTer?) c.2212del (p.Ser738AlafsTer?) n.2646del c.2470del (p.Ser824AlafsTer?) | gnomAD v4 |
4 | g.6302256A>C | CA356178620 | WFS1 | c.2497A>C (p.Ser833Arg) c.2438A>C c.2461A>C (p.Ser821Arg) c.2212A>C (p.Ser738Arg) n.2646A>C c.2470A>C (p.Ser824Arg) | |
4 | g.6302256A>G | CA356178621 | WFS1 | c.2497A>G (p.Ser833Gly) c.2438A>G c.2461A>G (p.Ser821Gly) c.2212A>G (p.Ser738Gly) n.2646A>G c.2470A>G (p.Ser824Gly) | gnomAD v4 |
4 | g.6302256A>T | CA356178622 | WFS1 | c.2497A>T (p.Ser833Cys) c.2438A>T c.2461A>T (p.Ser821Cys) c.2212A>T (p.Ser738Cys) n.2646A>T c.2470A>T (p.Ser824Cys) | |
4 | g.6302257G>A | CA356178625 | WFS1 | c.2498G>A (p.Ser833Asn) c.2439G>A c.2462G>A (p.Ser821Asn) c.2213G>A (p.Ser738Asn) n.2647G>A c.2471G>A (p.Ser824Asn) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302257G>C | CA356178624 | WFS1 | c.2498G>C (p.Ser833Thr) c.2439G>C c.2462G>C (p.Ser821Thr) c.2213G>C (p.Ser738Thr) n.2647G>C c.2471G>C (p.Ser824Thr) | |
4 | g.6302257G= | CA1435772537 | WFS1 | c.2498G= (p.Ser833=) c.2439G= c.2462G= (p.Ser821=) c.2213G= (p.Ser738=) n.2647G= c.2471G= (p.Ser824=) | |
4 | g.6302257G>T | CA356178623 | WFS1 | c.2498G>T (p.Ser833Ile) c.2439G>T c.2462G>T (p.Ser821Ile) c.2213G>T (p.Ser738Ile) n.2647G>T c.2471G>T (p.Ser824Ile) | gnomAD v4 |
4 | g.6302258C>A | CA356178626 | WFS1 | c.2499C>A (p.Ser833Arg) c.2440C>A c.2463C>A (p.Ser821Arg) c.2214C>A (p.Ser738Arg) n.2648C>A c.2472C>A (p.Ser824Arg) | gnomAD v4 |
4 | g.6302258C= | CA1435772539 | WFS1 | c.2499C= (p.Ser833=) c.2440C= c.2463C= (p.Ser821=) c.2214C= (p.Ser738=) n.2648C= c.2472C= (p.Ser824=) | |
4 | g.6302258C>G | CA356178627 | WFS1 | c.2499C>G (p.Ser833Arg) c.2440C>G c.2463C>G (p.Ser821Arg) c.2214C>G (p.Ser738Arg) n.2648C>G c.2472C>G (p.Ser824Arg) | |
4 | g.6302258C>T | CA438368323 | WFS1 | c.2499C>T (p.Ser833=) c.2440C>T c.2463C>T (p.Ser821=) c.2214C>T (p.Ser738=) n.2648C>T c.2472C>T (p.Ser824=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302259C>A | CA356178628 | WFS1 | c.2500C>A (p.Leu834Ile) c.2441C>A c.2464C>A (p.Leu822Ile) c.2215C>A (p.Leu739Ile) n.2649C>A c.2473C>A (p.Leu825Ile) | gnomAD v4 |
4 | g.6302259C>G | CA356178629 | WFS1 | c.2500C>G (p.Leu834Val) c.2441C>G c.2464C>G (p.Leu822Val) c.2215C>G (p.Leu739Val) n.2649C>G c.2473C>G (p.Leu825Val) | |
4 | g.6302259C>T | CA356178630 | WFS1 | c.2500C>T (p.Leu834Phe) c.2441C>T c.2464C>T (p.Leu822Phe) c.2215C>T (p.Leu739Phe) n.2649C>T c.2473C>T (p.Leu825Phe) | |
4 | g.6302259_6302260delinsCT | CA1435772541 | WFS1 | c.2500_2501delinsCT (p.Leu834=) c.2441_2442delinsCT c.2464_2465delinsCT (p.Leu822=) c.2215_2216delinsCT (p.Leu739=) n.2649_2650delinsCT c.2473_2474delinsCT (p.Leu825=) | |
4 | g.6302260_6302261dup | CA917120731 | WFS1 | c.2501_2502dup (p.Ile835SerfsTer?) c.2442_2443dup c.2465_2466dup (p.Ile823SerfsTer?) c.2216_2217dup (p.Ile740SerfsTer?) n.2650_2651dup c.2474_2475dup (p.Ile826SerfsTer?) | dbSNP |
4 | g.6302260del | CA549707949 | WFS1 | c.2501del (p.Leu834ProfsTer?) c.2442del c.2465del (p.Leu822ProfsTer?) c.2216del (p.Leu739ProfsTer?) n.2650del c.2474del (p.Leu825ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302260T>A | CA356178631 | WFS1 | c.2501T>A (p.Leu834His) c.2442T>A c.2465T>A (p.Leu822His) c.2216T>A (p.Leu739His) n.2650T>A c.2474T>A (p.Leu825His) | |
4 | g.6302260T>C | CA356178632 | WFS1 | c.2501T>C (p.Leu834Pro) c.2442T>C c.2465T>C (p.Leu822Pro) c.2216T>C (p.Leu739Pro) n.2650T>C c.2474T>C (p.Leu825Pro) | |
4 | g.6302260T>G | CA356178633 | WFS1 | c.2501T>G (p.Leu834Arg) c.2442T>G c.2465T>G (p.Leu822Arg) c.2216T>G (p.Leu739Arg) n.2650T>G c.2474T>G (p.Leu825Arg) | |
4 | g.6302262_6302264del | CA2586973652 | WFS1 | c.2503_2505del (p.Ile835del) c.2444_2446del c.2467_2469del (p.Ile823del) c.2218_2220del (p.Ile740del) n.2652_2654del c.2476_2478del (p.Ile826del) | |
4 | g.6302261C>A | CA2839749 | WFS1 | c.2502C>A (p.Leu834=) c.2443C>A c.2466C>A (p.Leu822=) c.2217C>A (p.Leu739=) n.2651C>A c.2475C>A (p.Leu825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302261C= | CA1435772544 | WFS1 | c.2502C= (p.Leu834=) c.2443C= c.2466C= (p.Leu822=) c.2217C= (p.Leu739=) n.2651C= c.2475C= (p.Leu825=) | |
4 | g.6302261C>G | CA438368324 | WFS1 | c.2502C>G (p.Leu834=) c.2443C>G c.2466C>G (p.Leu822=) c.2217C>G (p.Leu739=) n.2651C>G c.2475C>G (p.Leu825=) | |
4 | g.6302261C>T | CA2839748 | WFS1 | c.2502C>T (p.Leu834=) c.2443C>T c.2466C>T (p.Leu822=) c.2217C>T (p.Leu739=) n.2651C>T c.2475C>T (p.Leu825=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302261_6302262delinsCA | CA1435772545 | WFS1 | c.2502_2503delinsCA (p.Leu834=) c.2443_2444delinsCA c.2466_2467delinsCA (p.Leu822=) c.2217_2218delinsCA (p.Leu739=) n.2651_2652delinsCA c.2475_2476delinsCA (p.Leu825=) | |
4 | g.6302262del | CA917120736 | WFS1 | c.2503del (p.Ile835SerfsTer?) c.2444del c.2467del (p.Ile823SerfsTer?) c.2218del (p.Ile740SerfsTer?) n.2652del c.2476del (p.Ile826SerfsTer?) | dbSNP |
4 | g.6302262A>C | CA356178634 | WFS1 | c.2503A>C (p.Ile835Leu) c.2444A>C c.2467A>C (p.Ile823Leu) c.2218A>C (p.Ile740Leu) n.2652A>C c.2476A>C (p.Ile826Leu) | |
4 | g.6302262A>G | CA356178635 | WFS1 | c.2503A>G (p.Ile835Val) c.2444A>G c.2467A>G (p.Ile823Val) c.2218A>G (p.Ile740Val) n.2652A>G c.2476A>G (p.Ile826Val) | |
4 | g.6302262A>T | CA356178636 | WFS1 | c.2503A>T (p.Ile835Phe) c.2444A>T c.2467A>T (p.Ile823Phe) c.2218A>T (p.Ile740Phe) n.2652A>T c.2476A>T (p.Ile826Phe) | gnomAD v4 |
4 | g.6302263T>A | CA356178639 | WFS1 | c.2504T>A (p.Ile835Asn) c.2445T>A c.2468T>A (p.Ile823Asn) c.2219T>A (p.Ile740Asn) n.2653T>A c.2477T>A (p.Ile826Asn) | |
4 | g.6302263T>C | CA356178638 | WFS1 | c.2504T>C (p.Ile835Thr) c.2445T>C c.2468T>C (p.Ile823Thr) c.2219T>C (p.Ile740Thr) n.2653T>C c.2477T>C (p.Ile826Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302263T>G | CA356178637 | WFS1 | c.2504T>G (p.Ile835Ser) c.2445T>G c.2468T>G (p.Ile823Ser) c.2219T>G (p.Ile740Ser) n.2653T>G c.2477T>G (p.Ile826Ser) | |
4 | g.6302263T= | CA1435772548 | WFS1 | c.2504T= (p.Ile835=) c.2445T= c.2468T= (p.Ile823=) c.2219T= (p.Ile740=) n.2653T= c.2477T= (p.Ile826=) | |
4 | g.6302264C>A | CA438368325 | WFS1 | c.2505C>A (p.Ile835=) c.2446C>A c.2469C>A (p.Ile823=) c.2220C>A (p.Ile740=) n.2654C>A c.2478C>A (p.Ile826=) | |
4 | g.6302264C= | CA1435772550 | WFS1 | c.2505C= (p.Ile835=) c.2446C= c.2469C= (p.Ile823=) c.2220C= (p.Ile740=) n.2654C= c.2478C= (p.Ile826=) | |
4 | g.6302264C>G | CA2839750 | WFS1 | c.2505C>G (p.Ile835Met) c.2446C>G c.2469C>G (p.Ile823Met) c.2220C>G (p.Ile740Met) n.2654C>G c.2478C>G (p.Ile826Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302264C>T | CA289144 | WFS1 | c.2505C>T (p.Ile835=) c.2446C>T c.2469C>T (p.Ile823=) c.2220C>T (p.Ile740=) n.2654C>T c.2478C>T (p.Ile826=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302265del | CA2760271239 | WFS1 | c.2506del (p.Glu836SerfsTer?) c.2447del c.2470del (p.Glu824SerfsTer?) c.2221del (p.Glu741SerfsTer?) n.2655del c.2479del (p.Glu827SerfsTer?) | |
4 | g.6302265G>A | CA179683 | WFS1 | c.2506G>A (p.Glu836Lys) c.2447G>A c.2470G>A (p.Glu824Lys) c.2221G>A (p.Glu741Lys) n.2655G>A c.2479G>A (p.Glu827Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302265G>C | CA356178640 | WFS1 | c.2506G>C (p.Glu836Gln) c.2447G>C c.2470G>C (p.Glu824Gln) c.2221G>C (p.Glu741Gln) n.2655G>C c.2479G>C (p.Glu827Gln) | |
4 | g.6302265G= | CA1435772552 | WFS1 | c.2506G= (p.Glu836=) c.2447G= c.2470G= (p.Glu824=) c.2221G= (p.Glu741=) n.2655G= c.2479G= (p.Glu827=) | |
4 | g.6302265G>T | CA356178641 | WFS1 | c.2506G>T (p.Glu836Ter) c.2447G>T c.2470G>T (p.Glu824Ter) c.2221G>T (p.Glu741Ter) n.2655G>T c.2479G>T (p.Glu827Ter) | gnomAD v4 |
4 | g.6302266A>C | CA356178642 | WFS1 | c.2507A>C (p.Glu836Ala) c.2448A>C c.2471A>C (p.Glu824Ala) c.2222A>C (p.Glu741Ala) n.2656A>C c.2480A>C (p.Glu827Ala) | |
4 | g.6302266A>G | CA356178643 | WFS1 | c.2507A>G (p.Glu836Gly) c.2448A>G c.2471A>G (p.Glu824Gly) c.2222A>G (p.Glu741Gly) n.2656A>G c.2480A>G (p.Glu827Gly) | |
4 | g.6302266A>T | CA356178644 | WFS1 | c.2507A>T (p.Glu836Val) c.2448A>T c.2471A>T (p.Glu824Val) c.2222A>T (p.Glu741Val) n.2656A>T c.2480A>T (p.Glu827Val) | |
4 | g.6302267G>A | CA2839751 | WFS1 | c.2508G>A (p.Glu836=) c.2449G>A c.2472G>A (p.Glu824=) c.2223G>A (p.Glu741=) n.2657G>A c.2481G>A (p.Glu827=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302267G>C | CA356178645 | WFS1 | c.2508G>C (p.Glu836Asp) c.2449G>C c.2472G>C (p.Glu824Asp) c.2223G>C (p.Glu741Asp) n.2657G>C c.2481G>C (p.Glu827Asp) | gnomAD v4 |
4 | g.6302267G= | CA1435772554 | WFS1 | c.2508G= (p.Glu836=) c.2449G= c.2472G= (p.Glu824=) c.2223G= (p.Glu741=) n.2657G= c.2481G= (p.Glu827=) | |
4 | g.6302267G>T | CA356178646 | WFS1 | c.2508G>T (p.Glu836Asp) c.2449G>T c.2472G>T (p.Glu824Asp) c.2223G>T (p.Glu741Asp) n.2657G>T c.2481G>T (p.Glu827Asp) | |
4 | g.6302267_6302272del | CA2760271240 | WFS1 | c.2508_2513del (p.Glu836_Ser838delinsAsp) c.2449_2454del c.2472_2477del (p.Glu824_Ser826delinsAsp) c.2223_2228del (p.Glu741_Ser743delinsAsp) n.2657_2662del c.2481_2486del (p.Glu827_Ser829delinsAsp) | |
4 | g.6302268T>A | CA356178647 | WFS1 | c.2509T>A (p.Phe837Ile) c.2450T>A c.2473T>A (p.Phe825Ile) c.2224T>A (p.Phe742Ile) n.2658T>A c.2482T>A (p.Phe828Ile) | gnomAD v4 |
4 | g.6302268T>C | CA356178648 | WFS1 | c.2509T>C (p.Phe837Leu) c.2450T>C c.2473T>C (p.Phe825Leu) c.2224T>C (p.Phe742Leu) n.2658T>C c.2482T>C (p.Phe828Leu) | gnomAD v4 |
4 | g.6302268T>G | CA356178649 | WFS1 | c.2509T>G (p.Phe837Val) c.2450T>G c.2473T>G (p.Phe825Val) c.2224T>G (p.Phe742Val) n.2658T>G c.2482T>G (p.Phe828Val) | gnomAD v4 |
4 | g.6302269dup | CA645523671 | WFS1 | c.2510dup (p.Ser838GlnfsTer?) c.2451dup c.2474dup (p.Ser826GlnfsTer?) c.2225dup (p.Ser743GlnfsTer?) n.2659dup c.2483dup (p.Ser829GlnfsTer?) | COSMIC |
4 | g.6302269T>A | CA356178651 | WFS1 | c.2510T>A (p.Phe837Tyr) c.2451T>A c.2474T>A (p.Phe825Tyr) c.2225T>A (p.Phe742Tyr) n.2659T>A c.2483T>A (p.Phe828Tyr) | |
4 | g.6302269T>C | CA356178652 | WFS1 | c.2510T>C (p.Phe837Ser) c.2451T>C c.2474T>C (p.Phe825Ser) c.2225T>C (p.Phe742Ser) n.2659T>C c.2483T>C (p.Phe828Ser) | |
4 | g.6302269T>G | CA356178650 | WFS1 | c.2510T>G (p.Phe837Cys) c.2451T>G c.2474T>G (p.Phe825Cys) c.2225T>G (p.Phe742Cys) n.2659T>G c.2483T>G (p.Phe828Cys) | |
4 | g.6302270C>A | CA356178653 | WFS1 | c.2511C>A (p.Phe837Leu) c.2452C>A c.2475C>A (p.Phe825Leu) c.2226C>A (p.Phe742Leu) n.2660C>A c.2484C>A (p.Phe828Leu) | |
4 | g.6302270C>G | CA356178654 | WFS1 | c.2511C>G (p.Phe837Leu) c.2452C>G c.2475C>G (p.Phe825Leu) c.2226C>G (p.Phe742Leu) n.2660C>G c.2484C>G (p.Phe828Leu) | |
4 | g.6302270C>T | CA438368326 | WFS1 | c.2511C>T (p.Phe837=) c.2452C>T c.2475C>T (p.Phe825=) c.2226C>T (p.Phe742=) n.2660C>T c.2484C>T (p.Phe828=) | gnomAD v4 |
4 | g.6302272_6302274del | CA2578035819 | WFS1 | c.2513_2515del (p.Ser838del) c.2454_2456del c.2477_2479del (p.Ser826del) c.2228_2230del (p.Ser743del) n.2662_2664del c.2486_2488del (p.Ser829del) | |
4 | g.6302271A>C | CA356178655 | WFS1 | c.2512A>C (p.Ser838Arg) c.2453A>C c.2476A>C (p.Ser826Arg) c.2227A>C (p.Ser743Arg) n.2661A>C c.2485A>C (p.Ser829Arg) | dbSNP |
4 | g.6302271A>G | CA356178656 | WFS1 | c.2512A>G (p.Ser838Gly) c.2453A>G c.2476A>G (p.Ser826Gly) c.2227A>G (p.Ser743Gly) n.2661A>G c.2485A>G (p.Ser829Gly) | |
4 | g.6302271A>T | CA356178657 | WFS1 | c.2512A>T (p.Ser838Cys) c.2453A>T c.2476A>T (p.Ser826Cys) c.2227A>T (p.Ser743Cys) n.2661A>T c.2485A>T (p.Ser829Cys) | gnomAD v4 |
4 | g.6302272G>A | CA356178658 | WFS1 | c.2513G>A (p.Ser838Asn) c.2454G>A c.2477G>A (p.Ser826Asn) c.2228G>A (p.Ser743Asn) n.2662G>A c.2486G>A (p.Ser829Asn) | ClinVar dbSNP gnomAD v4 |
4 | g.6302272G>C | CA356178659 | WFS1 | c.2513G>C (p.Ser838Thr) c.2454G>C c.2477G>C (p.Ser826Thr) c.2228G>C (p.Ser743Thr) n.2662G>C c.2486G>C (p.Ser829Thr) | |
4 | g.6302272G= | CA1435772556 | WFS1 | c.2513G= (p.Ser838=) c.2454G= c.2477G= (p.Ser826=) c.2228G= (p.Ser743=) n.2662G= c.2486G= (p.Ser829=) | |
4 | g.6302272G>T | CA356178660 | WFS1 | c.2513G>T (p.Ser838Ile) c.2454G>T c.2477G>T (p.Ser826Ile) c.2228G>T (p.Ser743Ile) n.2662G>T c.2486G>T (p.Ser829Ile) | |
4 | g.6302273C>A | CA356178661 | WFS1 | c.2514C>A (p.Ser838Arg) c.2455C>A c.2478C>A (p.Ser826Arg) c.2229C>A (p.Ser743Arg) n.2663C>A c.2487C>A (p.Ser829Arg) | |
4 | g.6302273C= | CA1435772557 | WFS1 | c.2514C= (p.Ser838=) c.2455C= c.2478C= (p.Ser826=) c.2229C= (p.Ser743=) n.2663C= c.2487C= (p.Ser829=) | |
4 | g.6302273C>G | CA356178662 | WFS1 | c.2514C>G (p.Ser838Arg) c.2455C>G c.2478C>G (p.Ser826Arg) c.2229C>G (p.Ser743Arg) n.2663C>G c.2487C>G (p.Ser829Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302273C>T | CA438368327 | WFS1 | c.2514C>T (p.Ser838=) c.2455C>T c.2478C>T (p.Ser826=) c.2229C>T (p.Ser743=) n.2663C>T c.2487C>T (p.Ser829=) | |
4 | g.6302274A>C | CA356178663 | WFS1 | c.2515A>C (p.Thr839Pro) c.2456A>C c.2479A>C (p.Thr827Pro) c.2230A>C (p.Thr744Pro) n.2664A>C c.2488A>C (p.Thr830Pro) | |
4 | g.6302274A>G | CA356178664 | WFS1 | c.2515A>G (p.Thr839Ala) c.2456A>G c.2479A>G (p.Thr827Ala) c.2230A>G (p.Thr744Ala) n.2664A>G c.2488A>G (p.Thr830Ala) | |
4 | g.6302274A>T | CA356178665 | WFS1 | c.2515A>T (p.Thr839Ser) c.2456A>T c.2479A>T (p.Thr827Ser) c.2230A>T (p.Thr744Ser) n.2664A>T c.2488A>T (p.Thr830Ser) | |
4 | g.6302275C>A | CA356178668 | WFS1 | c.2516C>A (p.Thr839Asn) c.2457C>A c.2480C>A (p.Thr827Asn) c.2231C>A (p.Thr744Asn) n.2665C>A c.2489C>A (p.Thr830Asn) | |
4 | g.6302275C= | CA1435772558 | WFS1 | c.2516C= (p.Thr839=) c.2457C= c.2480C= (p.Thr827=) c.2231C= (p.Thr744=) n.2665C= c.2489C= (p.Thr830=) | |
4 | g.6302275C>G | CA356178666 | WFS1 | c.2516C>G (p.Thr839Ser) c.2457C>G c.2480C>G (p.Thr827Ser) c.2231C>G (p.Thr744Ser) n.2665C>G c.2489C>G (p.Thr830Ser) | |
4 | g.6302275C>T | CA356178667 | WFS1 | c.2516C>T (p.Thr839Ile) c.2457C>T c.2480C>T (p.Thr827Ile) c.2231C>T (p.Thr744Ile) n.2665C>T c.2489C>T (p.Thr830Ile) | ClinVar dbSNP |
4 | g.6302276C>A | CA438368328 | WFS1 | c.2517C>A (p.Thr839=) c.2458C>A c.2481C>A (p.Thr827=) c.2232C>A (p.Thr744=) n.2666C>A c.2490C>A (p.Thr830=) | |
4 | g.6302276C= | CA1435772559 | WFS1 | c.2517C= (p.Thr839=) c.2458C= c.2481C= (p.Thr827=) c.2232C= (p.Thr744=) n.2666C= c.2490C= (p.Thr830=) | |
4 | g.6302276C>G | CA438368329 | WFS1 | c.2517C>G (p.Thr839=) c.2458C>G c.2481C>G (p.Thr827=) c.2232C>G (p.Thr744=) n.2666C>G c.2490C>G (p.Thr830=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302276C>T | CA10618107 | WFS1 | c.2517C>T (p.Thr839=) c.2458C>T c.2481C>T (p.Thr827=) c.2232C>T (p.Thr744=) n.2666C>T c.2490C>T (p.Thr830=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302277A= | CA1435772562 | WFS1 | c.2518A= (p.Ile840=) c.2459A= c.2482A= (p.Ile828=) c.2233A= (p.Ile745=) n.2667A= c.2491A= (p.Ile831=) | |
4 | g.6302277A>C | CA356178669 | WFS1 | c.2518A>C (p.Ile840Leu) c.2459A>C c.2482A>C (p.Ile828Leu) c.2233A>C (p.Ile745Leu) n.2667A>C c.2491A>C (p.Ile831Leu) | gnomAD v4 |
4 | g.6302277A>G | CA2839752 | WFS1 | c.2518A>G (p.Ile840Val) c.2459A>G c.2482A>G (p.Ile828Val) c.2233A>G (p.Ile745Val) n.2667A>G c.2491A>G (p.Ile831Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302277A>T | CA356178670 | WFS1 | c.2518A>T (p.Ile840Phe) c.2459A>T c.2482A>T (p.Ile828Phe) c.2233A>T (p.Ile745Phe) n.2667A>T c.2491A>T (p.Ile831Phe) | |
4 | g.6302278T>A | CA356178672 | WFS1 | c.2519T>A (p.Ile840Asn) c.2460T>A c.2483T>A (p.Ile828Asn) c.2234T>A (p.Ile745Asn) n.2668T>A c.2492T>A (p.Ile831Asn) | |
4 | g.6302278T>C | CA356178674 | WFS1 | c.2519T>C (p.Ile840Thr) c.2460T>C c.2483T>C (p.Ile828Thr) c.2234T>C (p.Ile745Thr) n.2668T>C c.2492T>C (p.Ile831Thr) | gnomAD v4 |
4 | g.6302278T>G | CA356178676 | WFS1 | c.2519T>G (p.Ile840Ser) c.2460T>G c.2483T>G (p.Ile828Ser) c.2234T>G (p.Ile745Ser) n.2668T>G c.2492T>G (p.Ile831Ser) | gnomAD v4 |
4 | g.6302278delinsGGA | CA2586973653 | WFS1 | c.2519delinsGGA (p.Ile840ArgfsTer?) c.2460delinsGGA c.2483delinsGGA (p.Ile828ArgfsTer?) c.2234delinsGGA (p.Ile745ArgfsTer?) n.2668delinsGGA c.2492delinsGGA (p.Ile831ArgfsTer?) | |
4 | g.6302278_6302279insGA | CA2586973654 | WFS1 | c.2519_2520insGA (p.Ile840MetfsTer?) c.2460_2461insGA c.2483_2484insGA (p.Ile828MetfsTer?) c.2234_2235insGA (p.Ile745MetfsTer?) n.2668_2669insGA c.2492_2493insGA (p.Ile831MetfsTer?) | |
4 | g.6302279C>A | CA2839753 | WFS1 | c.2520C>A (p.Ile840=) c.2461C>A c.2484C>A (p.Ile828=) c.2235C>A (p.Ile745=) n.2669C>A c.2493C>A (p.Ile831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302279C= | CA1435772563 | WFS1 | c.2520C= (p.Ile840=) c.2461C= c.2484C= (p.Ile828=) c.2235C= (p.Ile745=) n.2669C= c.2493C= (p.Ile831=) | |
4 | g.6302279C>G | CA356178677 | WFS1 | c.2520C>G (p.Ile840Met) c.2461C>G c.2484C>G (p.Ile828Met) c.2235C>G (p.Ile745Met) n.2669C>G c.2493C>G (p.Ile831Met) | ClinVar dbSNP gnomAD v2 |
4 | g.6302279C>T | CA438368330 | WFS1 | c.2520C>T (p.Ile840=) c.2461C>T c.2484C>T (p.Ile828=) c.2235C>T (p.Ile745=) n.2669C>T c.2493C>T (p.Ile831=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302279_6302280insA | CA2760271241 | WFS1 | c.2520_2521insA (p.Leu841ThrfsTer?) c.2461_2462insA c.2484_2485insA (p.Leu829ThrfsTer?) c.2235_2236insA (p.Leu746ThrfsTer?) n.2669_2670insA c.2493_2494insA (p.Leu832ThrfsTer?) | |
4 | g.6302280C>A | CA356178679 | WFS1 | c.2521C>A (p.Leu841Met) c.2462C>A c.2485C>A (p.Leu829Met) c.2236C>A (p.Leu746Met) n.2670C>A c.2494C>A (p.Leu832Met) | |
4 | g.6302280C= | CA1435772564 | WFS1 | c.2521C= (p.Leu841=) c.2462C= c.2485C= (p.Leu829=) c.2236C= (p.Leu746=) n.2670C= c.2494C= (p.Leu832=) | |
4 | g.6302280C>G | CA356178681 | WFS1 | c.2521C>G (p.Leu841Val) c.2462C>G c.2485C>G (p.Leu829Val) c.2236C>G (p.Leu746Val) n.2670C>G c.2494C>G (p.Leu832Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302280C>T | CA438368331 | WFS1 | c.2521C>T (p.Leu841=) c.2462C>T c.2485C>T (p.Leu829=) c.2236C>T (p.Leu746=) n.2670C>T c.2494C>T (p.Leu832=) | |
4 | g.6302281_6302291del | CA2586973655 | WFS1 | c.2522_2532del (p.Leu841ProfsTer?) c.2463_2473del c.2486_2496del (p.Leu829ProfsTer?) c.2237_2247del (p.Leu746ProfsTer?) n.2671_2681del c.2495_2505del (p.Leu832ProfsTer?) | |
4 | g.6302281T>A | CA356178683 | WFS1 | c.2522T>A (p.Leu841Gln) c.2463T>A c.2486T>A (p.Leu829Gln) c.2237T>A (p.Leu746Gln) n.2671T>A c.2495T>A (p.Leu832Gln) | |
4 | g.6302281T>C | CA253199 | WFS1 | c.2522T>C (p.Leu841Pro) c.2463T>C c.2486T>C (p.Leu829Pro) c.2237T>C (p.Leu746Pro) n.2671T>C c.2495T>C (p.Leu832Pro) | ClinVar dbSNP |
4 | g.6302281T>G | CA356178690 | WFS1 | c.2522T>G (p.Leu841Arg) c.2463T>G c.2486T>G (p.Leu829Arg) c.2237T>G (p.Leu746Arg) n.2671T>G c.2495T>G (p.Leu832Arg) | |
4 | g.6302281T= | CA1435772567 | WFS1 | c.2522T= (p.Leu841=) c.2463T= c.2486T= (p.Leu829=) c.2237T= (p.Leu746=) n.2671T= c.2495T= (p.Leu832=) | |
4 | g.6302282G>A | CA438368332 | WFS1 | c.2523G>A (p.Leu841=) c.2464G>A c.2487G>A (p.Leu829=) c.2238G>A (p.Leu746=) n.2672G>A c.2496G>A (p.Leu832=) | ClinVar dbSNP gnomAD v4 |
4 | g.6302282G>C | CA438368333 | WFS1 | c.2523G>C (p.Leu841=) c.2464G>C c.2487G>C (p.Leu829=) c.2238G>C (p.Leu746=) n.2672G>C c.2496G>C (p.Leu832=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302282G= | CA1435772568 | WFS1 | c.2523G= (p.Leu841=) c.2464G= c.2487G= (p.Leu829=) c.2238G= (p.Leu746=) n.2672G= c.2496G= (p.Leu832=) | |
4 | g.6302282G>T | CA438368334 | WFS1 | c.2523G>T (p.Leu841=) c.2464G>T c.2487G>T (p.Leu829=) c.2238G>T (p.Leu746=) n.2672G>T c.2496G>T (p.Leu832=) | |
4 | g.6302283G>A | CA356178693 | WFS1 | c.2524G>A (p.Glu842Lys) c.2465G>A c.2488G>A (p.Glu830Lys) c.2239G>A (p.Glu747Lys) n.2673G>A c.2497G>A (p.Glu833Lys) | |
4 | g.6302283G>C | CA356178698 | WFS1 | c.2524G>C (p.Glu842Gln) c.2465G>C c.2488G>C (p.Glu830Gln) c.2239G>C (p.Glu747Gln) n.2673G>C c.2497G>C (p.Glu833Gln) | |
4 | g.6302283G>T | CA356178695 | WFS1 | c.2524G>T (p.Glu842Ter) c.2465G>T c.2488G>T (p.Glu830Ter) c.2239G>T (p.Glu747Ter) n.2673G>T c.2497G>T (p.Glu833Ter) | |
4 | g.6302284A>C | CA356178701 | WFS1 | c.2525A>C (p.Glu842Ala) c.2466A>C c.2489A>C (p.Glu830Ala) c.2240A>C (p.Glu747Ala) n.2674A>C c.2498A>C (p.Glu833Ala) | |
4 | g.6302284A>G | CA356178703 | WFS1 | c.2525A>G (p.Glu842Gly) c.2466A>G c.2489A>G (p.Glu830Gly) c.2240A>G (p.Glu747Gly) n.2674A>G c.2498A>G (p.Glu833Gly) | |
4 | g.6302284A>T | CA356178702 | WFS1 | c.2525A>T (p.Glu842Val) c.2466A>T c.2489A>T (p.Glu830Val) c.2240A>T (p.Glu747Val) n.2674A>T c.2498A>T (p.Glu833Val) | |
4 | g.6302285G>A | CA438368335 | WFS1 | c.2526G>A (p.Glu842=) c.2467G>A c.2490G>A (p.Glu830=) c.2241G>A (p.Glu747=) n.2675G>A c.2499G>A (p.Glu833=) | |
4 | g.6302285G>C | CA356178706 | WFS1 | c.2526G>C (p.Glu842Asp) c.2467G>C c.2490G>C (p.Glu830Asp) c.2241G>C (p.Glu747Asp) n.2675G>C c.2499G>C (p.Glu833Asp) | dbSNP |
4 | g.6302285G= | CA1435772569 | WFS1 | c.2526G= (p.Glu842=) c.2467G= c.2490G= (p.Glu830=) c.2241G= (p.Glu747=) n.2675G= c.2499G= (p.Glu833=) | |
4 | g.6302285G>T | CA356178708 | WFS1 | c.2526G>T (p.Glu842Asp) c.2467G>T c.2490G>T (p.Glu830Asp) c.2241G>T (p.Glu747Asp) n.2675G>T c.2499G>T (p.Glu833Asp) | |
4 | g.6302286G>A | CA356178709 | WFS1 | c.2527G>A (p.Gly843Ser) c.2468G>A c.2491G>A (p.Gly831Ser) c.2242G>A (p.Gly748Ser) n.2676G>A c.2500G>A (p.Gly834Ser) | |
4 | g.6302286G>C | CA356178713 | WFS1 | c.2527G>C (p.Gly843Arg) c.2468G>C c.2491G>C (p.Gly831Arg) c.2242G>C (p.Gly748Arg) n.2676G>C c.2500G>C (p.Gly834Arg) | |
4 | g.6302286G>T | CA356178711 | WFS1 | c.2527G>T (p.Gly843Cys) c.2468G>T c.2491G>T (p.Gly831Cys) c.2242G>T (p.Gly748Cys) n.2676G>T c.2500G>T (p.Gly834Cys) | |
4 | g.6302287G>A | CA253203 | WFS1 | c.2528G>A (p.Gly843Asp) c.2469G>A c.2492G>A (p.Gly831Asp) c.2243G>A (p.Gly748Asp) n.2677G>A c.2501G>A (p.Gly834Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302287G>C | CA320333 | WFS1 | c.2528G>C (p.Gly843Ala) c.2469G>C c.2492G>C (p.Gly831Ala) c.2243G>C (p.Gly748Ala) n.2677G>C c.2501G>C (p.Gly834Ala) | ClinVar dbSNP |
4 | g.6302287G= | CA1435772570 | WFS1 | c.2528G= (p.Gly843=) c.2469G= c.2492G= (p.Gly831=) c.2243G= (p.Gly748=) n.2677G= c.2501G= (p.Gly834=) | |
4 | g.6302287G>T | CA356178716 | WFS1 | c.2528G>T (p.Gly843Val) c.2469G>T c.2492G>T (p.Gly831Val) c.2243G>T (p.Gly748Val) n.2677G>T c.2501G>T (p.Gly834Val) | |
4 | g.6302288C>A | CA438368336 | WFS1 | c.2529C>A (p.Gly843=) c.2470C>A c.2493C>A (p.Gly831=) c.2244C>A (p.Gly748=) n.2678C>A c.2502C>A (p.Gly834=) | |
4 | g.6302288C= | CA1435772572 | WFS1 | c.2529C= (p.Gly843=) c.2470C= c.2493C= (p.Gly831=) c.2244C= (p.Gly748=) n.2678C= c.2502C= (p.Gly834=) | |
4 | g.6302288C>G | CA438368337 | WFS1 | c.2529C>G (p.Gly843=) c.2470C>G c.2493C>G (p.Gly831=) c.2244C>G (p.Gly748=) n.2678C>G c.2502C>G (p.Gly834=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302288C>T | CA91797243 | WFS1 | c.2529C>T (p.Gly843=) c.2470C>T c.2493C>T (p.Gly831=) c.2244C>T (p.Gly748=) n.2678C>T c.2502C>T (p.Gly834=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302289C>A | CA356178725 | WFS1 | c.2530C>A (p.Arg844Ser) c.2471C>A c.2494C>A (p.Arg832Ser) c.2245C>A (p.Arg749Ser) n.2679C>A c.2503C>A (p.Arg835Ser) | |
4 | g.6302289C= | CA1435772575 | WFS1 | c.2530C= (p.Arg844=) c.2471C= c.2494C= (p.Arg832=) c.2245C= (p.Arg749=) n.2679C= c.2503C= (p.Arg835=) | |
4 | g.6302289C>G | CA2839755 | WFS1 | c.2530C>G (p.Arg844Gly) c.2471C>G c.2494C>G (p.Arg832Gly) c.2245C>G (p.Arg749Gly) n.2679C>G c.2503C>G (p.Arg835Gly) | dbSNP ExAC |
4 | g.6302289C>T | CA2839754 | WFS1 | c.2530C>T (p.Arg844Cys) c.2471C>T c.2494C>T (p.Arg832Cys) c.2245C>T (p.Arg749Cys) n.2679C>T c.2503C>T (p.Arg835Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302290G>A | CA2839756 | WFS1 | c.2531G>A (p.Arg844His) c.2472G>A c.2495G>A (p.Arg832His) c.2246G>A (p.Arg749His) n.2680G>A c.2504G>A (p.Arg835His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302290G>C | CA356178731 | WFS1 | c.2531G>C (p.Arg844Pro) c.2472G>C c.2495G>C (p.Arg832Pro) c.2246G>C (p.Arg749Pro) n.2680G>C c.2504G>C (p.Arg835Pro) | |
4 | g.6302290G= | CA1435772576 | WFS1 | c.2531G= (p.Arg844=) c.2472G= c.2495G= (p.Arg832=) c.2246G= (p.Arg749=) n.2680G= c.2504G= (p.Arg835=) | |
4 | g.6302290G>T | CA356178733 | WFS1 | c.2531G>T (p.Arg844Leu) c.2472G>T c.2495G>T (p.Arg832Leu) c.2246G>T (p.Arg749Leu) n.2680G>T c.2504G>T (p.Arg835Leu) | |
4 | g.6302291C>A | CA438368338 | WFS1 | c.2532C>A (p.Arg844=) c.2473C>A c.2496C>A (p.Arg832=) c.2247C>A (p.Arg749=) n.2681C>A c.2505C>A (p.Arg835=) | |
4 | g.6302291C= | CA1435772578 | WFS1 | c.2532C= (p.Arg844=) c.2473C= c.2496C= (p.Arg832=) c.2247C= (p.Arg749=) n.2681C= c.2505C= (p.Arg835=) | |
4 | g.6302291C>G | CA438368340 | WFS1 | c.2532C>G (p.Arg844=) c.2473C>G c.2496C>G (p.Arg832=) c.2247C>G (p.Arg749=) n.2681C>G c.2505C>G (p.Arg835=) | |
4 | g.6302291C>T | CA438368339 | WFS1 | c.2532C>T (p.Arg844=) c.2473C>T c.2496C>T (p.Arg832=) c.2247C>T (p.Arg749=) n.2681C>T c.2505C>T (p.Arg835=) | dbSNP gnomAD v4 COSMIC |
4 | g.6302292C>A | CA356178736 | WFS1 | c.2533C>A (p.Leu845Met) c.2474C>A c.2497C>A (p.Leu833Met) c.2248C>A (p.Leu750Met) n.2682C>A c.2506C>A (p.Leu836Met) | |
4 | g.6302292C= | CA1435772580 | WFS1 | c.2533C= (p.Leu845=) c.2474C= c.2497C= (p.Leu833=) c.2248C= (p.Leu750=) n.2682C= c.2506C= (p.Leu836=) | |
4 | g.6302292C>G | CA356178735 | WFS1 | c.2533C>G (p.Leu845Val) c.2474C>G c.2497C>G (p.Leu833Val) c.2248C>G (p.Leu750Val) n.2682C>G c.2506C>G (p.Leu836Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302292C>T | CA2839757 | WFS1 | c.2533C>T (p.Leu845=) c.2474C>T c.2497C>T (p.Leu833=) c.2248C>T (p.Leu750=) n.2682C>T c.2506C>T (p.Leu836=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302293T>A | CA356178737 | WFS1 | c.2534T>A (p.Leu845Gln) c.2475T>A c.2498T>A (p.Leu833Gln) c.2249T>A (p.Leu750Gln) n.2683T>A c.2507T>A (p.Leu836Gln) | ClinVar dbSNP |
4 | g.6302293T>C | CA356178738 | WFS1 | c.2534T>C (p.Leu845Pro) c.2475T>C c.2498T>C (p.Leu833Pro) c.2249T>C (p.Leu750Pro) n.2683T>C c.2507T>C (p.Leu836Pro) | |
4 | g.6302293T>G | CA356178739 | WFS1 | c.2534T>G (p.Leu845Arg) c.2475T>G c.2498T>G (p.Leu833Arg) c.2249T>G (p.Leu750Arg) n.2683T>G c.2507T>G (p.Leu836Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302293T= | CA1435772581 | WFS1 | c.2534T= (p.Leu845=) c.2475T= c.2498T= (p.Leu833=) c.2249T= (p.Leu750=) n.2683T= c.2507T= (p.Leu836=) | |
4 | g.6302294G>A | CA438368341 | WFS1 | c.2535G>A (p.Leu845=) c.2476G>A c.2499G>A (p.Leu833=) c.2250G>A (p.Leu750=) n.2684G>A c.2508G>A (p.Leu836=) | ClinVar dbSNP |
4 | g.6302294G>C | CA438368342 | WFS1 | c.2535G>C (p.Leu845=) c.2476G>C c.2499G>C (p.Leu833=) c.2250G>C (p.Leu750=) n.2684G>C c.2508G>C (p.Leu836=) | dbSNP gnomAD v4 |
4 | g.6302294G= | CA1435772584 | WFS1 | c.2535G= (p.Leu845=) c.2476G= c.2499G= (p.Leu833=) c.2250G= (p.Leu750=) n.2684G= c.2508G= (p.Leu836=) | |
4 | g.6302294G>T | CA438368343 | WFS1 | c.2535G>T (p.Leu845=) c.2476G>T c.2499G>T (p.Leu833=) c.2250G>T (p.Leu750=) n.2684G>T c.2508G>T (p.Leu836=) | ClinVar dbSNP |
4 | g.6302296del | CA2841725580 | WFS1 | c.2537del (p.Gly846AlafsTer28) c.2478del c.2501del (p.Gly834AlafsTer28) c.2252del (p.Gly751AlafsTer28) n.2686del c.2510del (p.Gly837AlafsTer28) | |
4 | g.6302295G>A | CA222903 | WFS1 | c.2536G>A (p.Gly846Ser) c.2477G>A c.2500G>A (p.Gly834Ser) c.2251G>A (p.Gly751Ser) n.2685G>A c.2509G>A (p.Gly837Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.6302295G>C | CA356178741 | WFS1 | c.2536G>C (p.Gly846Arg) c.2477G>C c.2500G>C (p.Gly834Arg) c.2251G>C (p.Gly751Arg) n.2685G>C c.2509G>C (p.Gly837Arg) | dbSNP |
4 | g.6302295G= | CA1435772585 | WFS1 | c.2536G= (p.Gly846=) c.2477G= c.2500G= (p.Gly834=) c.2251G= (p.Gly751=) n.2685G= c.2509G= (p.Gly837=) | |
4 | g.6302295G>T | CA356178742 | WFS1 | c.2536G>T (p.Gly846Cys) c.2477G>T c.2500G>T (p.Gly834Cys) c.2251G>T (p.Gly751Cys) n.2685G>T c.2509G>T (p.Gly837Cys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302296G>A | CA356178744 | WFS1 | c.2537G>A (p.Gly846Asp) c.2478G>A c.2501G>A (p.Gly834Asp) c.2252G>A (p.Gly751Asp) n.2686G>A c.2510G>A (p.Gly837Asp) | ClinVar dbSNP |
4 | g.6302296G>C | CA356178747 | WFS1 | c.2537G>C (p.Gly846Ala) c.2478G>C c.2501G>C (p.Gly834Ala) c.2252G>C (p.Gly751Ala) n.2686G>C c.2510G>C (p.Gly837Ala) | |
4 | g.6302296G>T | CA356178746 | WFS1 | c.2537G>T (p.Gly846Val) c.2478G>T c.2501G>T (p.Gly834Val) c.2252G>T (p.Gly751Val) n.2686G>T c.2510G>T (p.Gly837Val) | gnomAD v4 |
4 | g.6302297C>A | CA438368344 | WFS1 | c.2538C>A (p.Gly846=) c.2479C>A c.2502C>A (p.Gly834=) c.2253C>A (p.Gly751=) n.2687C>A c.2511C>A (p.Gly837=) | dbSNP |
4 | g.6302297C= | CA1435772588 | WFS1 | c.2538C= (p.Gly846=) c.2479C= c.2502C= (p.Gly834=) c.2253C= (p.Gly751=) n.2687C= c.2511C= (p.Gly837=) | |
4 | g.6302297C>G | CA438368345 | WFS1 | c.2538C>G (p.Gly846=) c.2479C>G c.2502C>G (p.Gly834=) c.2253C>G (p.Gly751=) n.2687C>G c.2511C>G (p.Gly837=) | |
4 | g.6302297C>T | CA438368346 | WFS1 | c.2538C>T (p.Gly846=) c.2479C>T c.2502C>T (p.Gly834=) c.2253C>T (p.Gly751=) n.2687C>T c.2511C>T (p.Gly837=) | ClinVar gnomAD v4 |
4 | g.6302298A>C | CA356178748 | WFS1 | c.2539A>C (p.Ser847Arg) c.2480A>C c.2503A>C (p.Ser835Arg) c.2254A>C (p.Ser752Arg) n.2688A>C c.2512A>C (p.Ser838Arg) | |
4 | g.6302298A>G | CA356178750 | WFS1 | c.2539A>G (p.Ser847Gly) c.2480A>G c.2503A>G (p.Ser835Gly) c.2254A>G (p.Ser752Gly) n.2688A>G c.2512A>G (p.Ser838Gly) | |
4 | g.6302298A>T | CA356178752 | WFS1 | c.2539A>T (p.Ser847Cys) c.2480A>T c.2503A>T (p.Ser835Cys) c.2254A>T (p.Ser752Cys) n.2688A>T c.2512A>T (p.Ser838Cys) | |
4 | g.6302299G>A | CA356178755 | WFS1 | c.2540G>A (p.Ser847Asn) c.2481G>A c.2504G>A (p.Ser835Asn) c.2255G>A (p.Ser752Asn) n.2689G>A c.2513G>A (p.Ser838Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302299G>C | CA356178756 | WFS1 | c.2540G>C (p.Ser847Thr) c.2481G>C c.2504G>C (p.Ser835Thr) c.2255G>C (p.Ser752Thr) n.2689G>C c.2513G>C (p.Ser838Thr) | |
4 | g.6302299G= | CA1435772589 | WFS1 | c.2540G= (p.Ser847=) c.2481G= c.2504G= (p.Ser835=) c.2255G= (p.Ser752=) n.2689G= c.2513G= (p.Ser838=) | |
4 | g.6302299G>T | CA356178758 | WFS1 | c.2540G>T (p.Ser847Ile) c.2481G>T c.2504G>T (p.Ser835Ile) c.2255G>T (p.Ser752Ile) n.2689G>T c.2513G>T (p.Ser838Ile) | |
4 | g.6302300C>A | CA356178759 | WFS1 | c.2541C>A (p.Ser847Arg) c.2482C>A c.2505C>A (p.Ser835Arg) c.2256C>A (p.Ser752Arg) n.2690C>A c.2514C>A (p.Ser838Arg) | COSMIC |
4 | g.6302300C>G | CA356178761 | WFS1 | c.2541C>G (p.Ser847Arg) c.2482C>G c.2505C>G (p.Ser835Arg) c.2256C>G (p.Ser752Arg) n.2690C>G c.2514C>G (p.Ser838Arg) | |
4 | g.6302300C>T | CA438368347 | WFS1 | c.2541C>T (p.Ser847=) c.2482C>T c.2505C>T (p.Ser835=) c.2256C>T (p.Ser752=) n.2690C>T c.2514C>T (p.Ser838=) | |
4 | g.6302300dup | CA2586973656 | WFS1 | c.2541dup (p.Lys848GlnfsTer?) c.2482dup c.2505dup (p.Lys836GlnfsTer?) c.2256dup (p.Lys753GlnfsTer?) n.2690dup c.2514dup (p.Lys839GlnfsTer?) | |
4 | g.6302301A>C | CA356178763 | WFS1 | c.2542A>C (p.Lys848Gln) c.2483A>C c.2506A>C (p.Lys836Gln) c.2257A>C (p.Lys753Gln) n.2691A>C c.2515A>C (p.Lys839Gln) | |
4 | g.6302301A>G | CA356178764 | WFS1 | c.2542A>G (p.Lys848Glu) c.2483A>G c.2506A>G (p.Lys836Glu) c.2257A>G (p.Lys753Glu) n.2691A>G c.2515A>G (p.Lys839Glu) | gnomAD v4 |
4 | g.6302301A>T | CA356178766 | WFS1 | c.2542A>T (p.Lys848Ter) c.2483A>T c.2506A>T (p.Lys836Ter) c.2257A>T (p.Lys753Ter) n.2691A>T c.2515A>T (p.Lys839Ter) | |
4 | g.6302302A>C | CA356178771 | WFS1 | c.2543A>C (p.Lys848Thr) c.2484A>C c.2507A>C (p.Lys836Thr) c.2258A>C (p.Lys753Thr) n.2692A>C c.2516A>C (p.Lys839Thr) | |
4 | g.6302302A>G | CA356178768 | WFS1 | c.2543A>G (p.Lys848Arg) c.2484A>G c.2507A>G (p.Lys836Arg) c.2258A>G (p.Lys753Arg) n.2692A>G c.2516A>G (p.Lys839Arg) | |
4 | g.6302302A>T | CA356178770 | WFS1 | c.2543A>T (p.Lys848Met) c.2484A>T c.2507A>T (p.Lys836Met) c.2258A>T (p.Lys753Met) n.2692A>T c.2516A>T (p.Lys839Met) | |
4 | g.6302303G>A | CA438368348 | WFS1 | c.2544G>A (p.Lys848=) c.2485G>A c.2508G>A (p.Lys836=) c.2259G>A (p.Lys753=) n.2693G>A c.2517G>A (p.Lys839=) | |
4 | g.6302303G>C | CA10576641 | WFS1 | c.2544G>C (p.Lys848Asn) c.2485G>C c.2508G>C (p.Lys836Asn) c.2259G>C (p.Lys753Asn) n.2693G>C c.2517G>C (p.Lys839Asn) | ClinVar dbSNP |
4 | g.6302303G= | CA1435772591 | WFS1 | c.2544G= (p.Lys848=) c.2485G= c.2508G= (p.Lys836=) c.2259G= (p.Lys753=) n.2693G= c.2517G= (p.Lys839=) | |
4 | g.6302303G>T | CA356178774 | WFS1 | c.2544G>T (p.Lys848Asn) c.2485G>T c.2508G>T (p.Lys836Asn) c.2259G>T (p.Lys753Asn) n.2693G>T c.2517G>T (p.Lys839Asn) | |
4 | g.6302304T>A | CA356178776 | WFS1 | c.2545T>A (p.Trp849Arg) c.2486T>A c.2509T>A (p.Trp837Arg) c.2260T>A (p.Trp754Arg) n.2694T>A c.2518T>A (p.Trp840Arg) | |
4 | g.6302304T>C | CA356178777 | WFS1 | c.2545T>C (p.Trp849Arg) c.2486T>C c.2509T>C (p.Trp837Arg) c.2260T>C (p.Trp754Arg) n.2694T>C c.2518T>C (p.Trp840Arg) | gnomAD v4 |
4 | g.6302304T>G | CA356178778 | WFS1 | c.2545T>G (p.Trp849Gly) c.2486T>G c.2509T>G (p.Trp837Gly) c.2260T>G (p.Trp754Gly) n.2694T>G c.2518T>G (p.Trp840Gly) | dbSNP gnomAD v4 |
4 | g.6302304T= | CA1435772592 | WFS1 | c.2545T= (p.Trp849=) c.2486T= c.2509T= (p.Trp837=) c.2260T= (p.Trp754=) n.2694T= c.2518T= (p.Trp840=) | |
4 | g.6302305G>A | CA356178782 | WFS1 | c.2546G>A (p.Trp849Ter) c.2487G>A c.2510G>A (p.Trp837Ter) c.2261G>A (p.Trp754Ter) n.2695G>A c.2519G>A (p.Trp840Ter) | gnomAD v4 |
4 | g.6302305G>C | CA356178781 | WFS1 | c.2546G>C (p.Trp849Ser) c.2487G>C c.2510G>C (p.Trp837Ser) c.2261G>C (p.Trp754Ser) n.2695G>C c.2519G>C (p.Trp840Ser) | |
4 | g.6302305G>T | CA356178779 | WFS1 | c.2546G>T (p.Trp849Leu) c.2487G>T c.2510G>T (p.Trp837Leu) c.2261G>T (p.Trp754Leu) n.2695G>T c.2519G>T (p.Trp840Leu) | |
4 | g.6302306G>A | CA356178783 | WFS1 | c.2547G>A (p.Trp849Ter) c.2488G>A c.2511G>A (p.Trp837Ter) c.2262G>A (p.Trp754Ter) n.2696G>A c.2520G>A (p.Trp840Ter) | |
4 | g.6302306G>C | CA356178784 | WFS1 | c.2547G>C (p.Trp849Cys) c.2488G>C c.2511G>C (p.Trp837Cys) c.2262G>C (p.Trp754Cys) n.2696G>C c.2520G>C (p.Trp840Cys) | |
4 | g.6302306G= | CA1435772593 | WFS1 | c.2547G= (p.Trp849=) c.2488G= c.2511G= (p.Trp837=) c.2262G= (p.Trp754=) n.2696G= c.2520G= (p.Trp840=) | |
4 | g.6302306G>T | CA356178785 | WFS1 | c.2547G>T (p.Trp849Cys) c.2488G>T c.2511G>T (p.Trp837Cys) c.2262G>T (p.Trp754Cys) n.2696G>T c.2520G>T (p.Trp840Cys) | ClinVar dbSNP gnomAD v2 |
4 | g.6302307C>A | CA356178787 | WFS1 | c.2548C>A (p.Pro850Thr) c.2489C>A c.2512C>A (p.Pro838Thr) c.2263C>A (p.Pro755Thr) n.2697C>A c.2521C>A (p.Pro841Thr) | |
4 | g.6302307C>G | CA356178789 | WFS1 | c.2548C>G (p.Pro850Ala) c.2489C>G c.2512C>G (p.Pro838Ala) c.2263C>G (p.Pro755Ala) n.2697C>G c.2521C>G (p.Pro841Ala) | ClinVar dbSNP |
4 | g.6302307C>T | CA356178790 | WFS1 | c.2548C>T (p.Pro850Ser) c.2489C>T c.2512C>T (p.Pro838Ser) c.2263C>T (p.Pro755Ser) n.2697C>T c.2521C>T (p.Pro841Ser) | |
4 | g.6302308C>A | CA356178792 | WFS1 | c.2549C>A (p.Pro850His) c.2490C>A c.2513C>A (p.Pro838His) c.2264C>A (p.Pro755His) n.2698C>A c.2522C>A (p.Pro841His) | |
4 | g.6302308C= | CA1435772594 | WFS1 | c.2549C= (p.Pro850=) c.2490C= c.2513C= (p.Pro838=) c.2264C= (p.Pro755=) n.2698C= c.2522C= (p.Pro841=) | |
4 | g.6302308C>G | CA356178795 | WFS1 | c.2549C>G (p.Pro850Arg) c.2490C>G c.2513C>G (p.Pro838Arg) c.2264C>G (p.Pro755Arg) n.2698C>G c.2522C>G (p.Pro841Arg) | |
4 | g.6302308C>T | CA91797255 | WFS1 | c.2549C>T (p.Pro850Leu) c.2490C>T c.2513C>T (p.Pro838Leu) c.2264C>T (p.Pro755Leu) n.2698C>T c.2522C>T (p.Pro841Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302309T>A | CA438368349 | WFS1 | c.2550T>A (p.Pro850=) c.2491T>A c.2514T>A (p.Pro838=) c.2265T>A (p.Pro755=) n.2699T>A c.2523T>A (p.Pro841=) | |
4 | g.6302309T>C | CA2839758 | WFS1 | c.2550T>C (p.Pro850=) c.2491T>C c.2514T>C (p.Pro838=) c.2265T>C (p.Pro755=) n.2699T>C c.2523T>C (p.Pro841=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302309T>G | CA438368350 | WFS1 | c.2550T>G (p.Pro850=) c.2491T>G c.2514T>G (p.Pro838=) c.2265T>G (p.Pro755=) n.2699T>G c.2523T>G (p.Pro841=) | |
4 | g.6302309T= | CA1435772596 | WFS1 | c.2550T= (p.Pro850=) c.2491T= c.2514T= (p.Pro838=) c.2265T= (p.Pro755=) n.2699T= c.2523T= (p.Pro841=) | |
4 | g.6302310G>A | CA356178797 | WFS1 | c.2551G>A (p.Val851Ile) c.2492G>A c.2515G>A (p.Val839Ile) c.2266G>A (p.Val756Ile) n.2700G>A c.2524G>A (p.Val842Ile) | |
4 | g.6302310G>C | CA356178799 | WFS1 | c.2551G>C (p.Val851Leu) c.2492G>C c.2515G>C (p.Val839Leu) c.2266G>C (p.Val756Leu) n.2700G>C c.2524G>C (p.Val842Leu) | gnomAD v4 |
4 | g.6302310G>T | CA356178801 | WFS1 | c.2551G>T (p.Val851Phe) c.2492G>T c.2515G>T (p.Val839Phe) c.2266G>T (p.Val756Phe) n.2700G>T c.2524G>T (p.Val842Phe) | gnomAD v4 |
4 | g.6302311T>A | CA356178803 | WFS1 | c.2552T>A (p.Val851Asp) c.2493T>A c.2516T>A (p.Val839Asp) c.2267T>A (p.Val756Asp) n.2701T>A c.2525T>A (p.Val842Asp) | dbSNP |
4 | g.6302311T>C | CA2839760 | WFS1 | c.2552T>C (p.Val851Ala) c.2493T>C c.2516T>C (p.Val839Ala) c.2267T>C (p.Val756Ala) n.2701T>C c.2525T>C (p.Val842Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302311T>G | CA2839759 | WFS1 | c.2552T>G (p.Val851Gly) c.2493T>G c.2516T>G (p.Val839Gly) c.2267T>G (p.Val756Gly) n.2701T>G c.2525T>G (p.Val842Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302311T= | CA1435772597 | WFS1 | c.2552T= (p.Val851=) c.2493T= c.2516T= (p.Val839=) c.2267T= (p.Val756=) n.2701T= c.2525T= (p.Val842=) | |
4 | g.6302312C>A | CA438368351 | WFS1 | c.2553C>A (p.Val851=) c.2494C>A c.2517C>A (p.Val839=) c.2268C>A (p.Val756=) n.2702C>A c.2526C>A (p.Val842=) | gnomAD v4 |
4 | g.6302312C= | CA1435772599 | WFS1 | c.2553C= (p.Val851=) c.2494C= c.2517C= (p.Val839=) c.2268C= (p.Val756=) n.2702C= c.2526C= (p.Val842=) | |
4 | g.6302312C>G | CA91797264 | WFS1 | c.2553C>G (p.Val851=) c.2494C>G c.2517C>G (p.Val839=) c.2268C>G (p.Val756=) n.2702C>G c.2526C>G (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302312C>T | CA438368352 | WFS1 | c.2553C>T (p.Val851=) c.2494C>T c.2517C>T (p.Val839=) c.2268C>T (p.Val756=) n.2702C>T c.2526C>T (p.Val842=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302313T>A | CA356178809 | WFS1 | c.2554T>A (p.Phe852Ile) c.2495T>A c.2518T>A (p.Phe840Ile) c.2269T>A (p.Phe757Ile) n.2703T>A c.2527T>A (p.Phe843Ile) | |
4 | g.6302313T>C | CA356178811 | WFS1 | c.2554T>C (p.Phe852Leu) c.2495T>C c.2518T>C (p.Phe840Leu) c.2269T>C (p.Phe757Leu) n.2703T>C c.2527T>C (p.Phe843Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302313T>G | CA356178812 | WFS1 | c.2554T>G (p.Phe852Val) c.2495T>G c.2518T>G (p.Phe840Val) c.2269T>G (p.Phe757Val) n.2703T>G c.2527T>G (p.Phe843Val) | |
4 | g.6302313T= | CA1435772600 | WFS1 | c.2554T= (p.Phe852=) c.2495T= c.2518T= (p.Phe840=) c.2269T= (p.Phe757=) n.2703T= c.2527T= (p.Phe843=) | |
4 | g.6302314T>A | CA356178815 | WFS1 | c.2555T>A (p.Phe852Tyr) c.2496T>A c.2519T>A (p.Phe840Tyr) c.2270T>A (p.Phe757Tyr) n.2704T>A c.2528T>A (p.Phe843Tyr) | |
4 | g.6302314T>C | CA356178818 | WFS1 | c.2555T>C (p.Phe852Ser) c.2496T>C c.2519T>C (p.Phe840Ser) c.2270T>C (p.Phe757Ser) n.2704T>C c.2528T>C (p.Phe843Ser) | |
4 | g.6302314T>G | CA356178817 | WFS1 | c.2555T>G (p.Phe852Cys) c.2496T>G c.2519T>G (p.Phe840Cys) c.2270T>G (p.Phe757Cys) n.2704T>G c.2528T>G (p.Phe843Cys) | |
4 | g.6302315C>A | CA356178821 | WFS1 | c.2556C>A (p.Phe852Leu) c.2497C>A c.2520C>A (p.Phe840Leu) c.2271C>A (p.Phe757Leu) n.2705C>A c.2529C>A (p.Phe843Leu) | |
4 | g.6302315C= | CA1435772602 | WFS1 | c.2556C= (p.Phe852=) c.2497C= c.2520C= (p.Phe840=) c.2271C= (p.Phe757=) n.2705C= c.2529C= (p.Phe843=) | |
4 | g.6302315C>G | CA356178822 | WFS1 | c.2556C>G (p.Phe852Leu) c.2497C>G c.2520C>G (p.Phe840Leu) c.2271C>G (p.Phe757Leu) n.2705C>G c.2529C>G (p.Phe843Leu) | |
4 | g.6302315C>T | CA2839761 | WFS1 | c.2556C>T (p.Phe852=) c.2497C>T c.2520C>T (p.Phe840=) c.2271C>T (p.Phe757=) n.2705C>T c.2529C>T (p.Phe843=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302316G>A | CA356178825 | WFS1 | c.2557G>A (p.Glu853Lys) c.2498G>A c.2521G>A (p.Glu841Lys) c.2272G>A (p.Glu758Lys) n.2706G>A c.2530G>A (p.Glu844Lys) | |
4 | g.6302316G>C | CA356178826 | WFS1 | c.2557G>C (p.Glu853Gln) c.2498G>C c.2521G>C (p.Glu841Gln) c.2272G>C (p.Glu758Gln) n.2706G>C c.2530G>C (p.Glu844Gln) | ClinVar dbSNP |
4 | g.6302316G= | CA1435772603 | WFS1 | c.2557G= (p.Glu853=) c.2498G= c.2521G= (p.Glu841=) c.2272G= (p.Glu758=) n.2706G= c.2530G= (p.Glu844=) | |
4 | g.6302316G>T | CA2839762 | WFS1 | c.2557G>T (p.Glu853Ter) c.2498G>T c.2521G>T (p.Glu841Ter) c.2272G>T (p.Glu758Ter) n.2706G>T c.2530G>T (p.Glu844Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302317A>C | CA356178831 | WFS1 | c.2558A>C (p.Glu853Ala) c.2499A>C c.2522A>C (p.Glu841Ala) c.2273A>C (p.Glu758Ala) n.2707A>C c.2531A>C (p.Glu844Ala) | |
4 | g.6302317A>G | CA356178828 | WFS1 | c.2558A>G (p.Glu853Gly) c.2499A>G c.2522A>G (p.Glu841Gly) c.2273A>G (p.Glu758Gly) n.2707A>G c.2531A>G (p.Glu844Gly) | |
4 | g.6302317A>T | CA356178830 | WFS1 | c.2558A>T (p.Glu853Val) c.2499A>T c.2522A>T (p.Glu841Val) c.2273A>T (p.Glu758Val) n.2707A>T c.2531A>T (p.Glu844Val) | |
4 | g.6302318G>A | CA438368353 | WFS1 | c.2559G>A (p.Glu853=) c.2500G>A c.2523G>A (p.Glu841=) c.2274G>A (p.Glu758=) n.2708G>A c.2532G>A (p.Glu844=) | gnomAD v4 |
4 | g.6302318G>C | CA356178833 | WFS1 | c.2559G>C (p.Glu853Asp) c.2500G>C c.2523G>C (p.Glu841Asp) c.2274G>C (p.Glu758Asp) n.2708G>C c.2532G>C (p.Glu844Asp) | |
4 | g.6302318G>T | CA356178835 | WFS1 | c.2559G>T (p.Glu853Asp) c.2500G>T c.2523G>T (p.Glu841Asp) c.2274G>T (p.Glu758Asp) n.2708G>T c.2532G>T (p.Glu844Asp) | gnomAD v4 |
4 | g.6302319C>A | CA356178837 | WFS1 | c.2560C>A (p.Leu854Ile) c.2501C>A c.2524C>A (p.Leu842Ile) c.2275C>A (p.Leu759Ile) n.2709C>A c.2533C>A (p.Leu845Ile) | |
4 | g.6302319C= | CA1435772605 | WFS1 | c.2560C= (p.Leu854=) c.2501C= c.2524C= (p.Leu842=) c.2275C= (p.Leu759=) n.2709C= c.2533C= (p.Leu845=) | |
4 | g.6302319C>G | CA356178838 | WFS1 | c.2560C>G (p.Leu854Val) c.2501C>G c.2524C>G (p.Leu842Val) c.2275C>G (p.Leu759Val) n.2709C>G c.2533C>G (p.Leu845Val) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302319C>T | CA91797271 | WFS1 | c.2560C>T (p.Leu854Phe) c.2501C>T c.2524C>T (p.Leu842Phe) c.2275C>T (p.Leu759Phe) n.2709C>T c.2533C>T (p.Leu845Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6302320T>A | CA356178841 | WFS1 | c.2561T>A (p.Leu854His) c.2502T>A c.2525T>A (p.Leu842His) c.2276T>A (p.Leu759His) n.2710T>A c.2534T>A (p.Leu845His) | |
4 | g.6302320T>C | CA356178843 | WFS1 | c.2561T>C (p.Leu854Pro) c.2502T>C c.2525T>C (p.Leu842Pro) c.2276T>C (p.Leu759Pro) n.2710T>C c.2534T>C (p.Leu845Pro) | |
4 | g.6302320T>G | CA356178842 | WFS1 | c.2561T>G (p.Leu854Arg) c.2502T>G c.2525T>G (p.Leu842Arg) c.2276T>G (p.Leu759Arg) n.2710T>G c.2534T>G (p.Leu845Arg) | |
4 | g.6302321C>A | CA438368354 | WFS1 | c.2562C>A (p.Leu854=) c.2503C>A c.2526C>A (p.Leu842=) c.2277C>A (p.Leu759=) n.2711C>A c.2535C>A (p.Leu845=) | |
4 | g.6302321C= | CA1435772607 | WFS1 | c.2562C= (p.Leu854=) c.2503C= c.2526C= (p.Leu842=) c.2277C= (p.Leu759=) n.2711C= c.2535C= (p.Leu845=) | |
4 | g.6302321C>G | CA438368355 | WFS1 | c.2562C>G (p.Leu854=) c.2503C>G c.2526C>G (p.Leu842=) c.2277C>G (p.Leu759=) n.2711C>G c.2535C>G (p.Leu845=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302321C>T | CA438368356 | WFS1 | c.2562C>T (p.Leu854=) c.2503C>T c.2526C>T (p.Leu842=) c.2277C>T (p.Leu759=) n.2711C>T c.2535C>T (p.Leu845=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302322A>C | CA356178845 | WFS1 | c.2563A>C (p.Lys855Gln) c.2504A>C c.2527A>C (p.Lys843Gln) c.2278A>C (p.Lys760Gln) n.2712A>C c.2536A>C (p.Lys846Gln) | |
4 | g.6302322A>G | CA356178846 | WFS1 | c.2563A>G (p.Lys855Glu) c.2504A>G c.2527A>G (p.Lys843Glu) c.2278A>G (p.Lys760Glu) n.2712A>G c.2536A>G (p.Lys846Glu) | |
4 | g.6302322A>T | CA356178848 | WFS1 | c.2563A>T (p.Lys855Ter) c.2504A>T c.2527A>T (p.Lys843Ter) c.2278A>T (p.Lys760Ter) n.2712A>T c.2536A>T (p.Lys846Ter) | |
4 | g.6302323A= | CA1435772610 | WFS1 | c.2564A= (p.Lys855=) c.2505A= c.2528A= (p.Lys843=) c.2279A= (p.Lys760=) n.2713A= c.2537A= (p.Lys846=) | |
4 | g.6302323A>C | CA356178851 | WFS1 | c.2564A>C (p.Lys855Thr) c.2505A>C c.2528A>C (p.Lys843Thr) c.2279A>C (p.Lys760Thr) n.2713A>C c.2537A>C (p.Lys846Thr) | |
4 | g.6302323A>G | CA2839763 | WFS1 | c.2564A>G (p.Lys855Arg) c.2505A>G c.2528A>G (p.Lys843Arg) c.2279A>G (p.Lys760Arg) n.2713A>G c.2537A>G (p.Lys846Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302323A>T | CA356178853 | WFS1 | c.2564A>T (p.Lys855Met) c.2505A>T c.2528A>T (p.Lys843Met) c.2279A>T (p.Lys760Met) n.2713A>T c.2537A>T (p.Lys846Met) | ClinVar dbSNP gnomAD v4 |
4 | g.6302324G>A | CA438368357 | WFS1 | c.2565G>A (p.Lys855=) c.2506G>A c.2529G>A (p.Lys843=) c.2280G>A (p.Lys760=) n.2714G>A c.2538G>A (p.Lys846=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6302324G>C | CA356178855 | WFS1 | c.2565G>C (p.Lys855Asn) c.2506G>C c.2529G>C (p.Lys843Asn) c.2280G>C (p.Lys760Asn) n.2714G>C c.2538G>C (p.Lys846Asn) | |
4 | g.6302324G= | CA1435772611 | WFS1 | c.2565G= (p.Lys855=) c.2506G= c.2529G= (p.Lys843=) c.2280G= (p.Lys760=) n.2714G= c.2538G= (p.Lys846=) | |
4 | g.6302324G>T | CA356178857 | WFS1 | c.2565G>T (p.Lys855Asn) c.2506G>T c.2529G>T (p.Lys843Asn) c.2280G>T (p.Lys760Asn) n.2714G>T c.2538G>T (p.Lys846Asn) | |
4 | g.6302325G>A | CA356178859 | WFS1 | c.2566G>A (p.Ala856Thr) c.2507G>A c.2530G>A (p.Ala844Thr) c.2281G>A (p.Ala761Thr) n.2715G>A c.2539G>A (p.Ala847Thr) | |
4 | g.6302325G>C | CA356178861 | WFS1 | c.2566G>C (p.Ala856Pro) c.2507G>C c.2530G>C (p.Ala844Pro) c.2281G>C (p.Ala761Pro) n.2715G>C c.2539G>C (p.Ala847Pro) | |
4 | g.6302325G>T | CA356178863 | WFS1 | c.2566G>T (p.Ala856Ser) c.2507G>T c.2530G>T (p.Ala844Ser) c.2281G>T (p.Ala761Ser) n.2715G>T c.2539G>T (p.Ala847Ser) | |
4 | g.6302326C>A | CA356178865 | WFS1 | c.2567C>A (p.Ala856Asp) c.2508C>A c.2531C>A (p.Ala844Asp) c.2282C>A (p.Ala761Asp) n.2716C>A c.2540C>A (p.Ala847Asp) | |
4 | g.6302326C= | CA1435772612 | WFS1 | c.2567C= (p.Ala856=) c.2508C= c.2531C= (p.Ala844=) c.2282C= (p.Ala761=) n.2716C= c.2540C= (p.Ala847=) | |
4 | g.6302326C>G | CA2839765 | WFS1 | c.2567C>G (p.Ala856Gly) c.2508C>G c.2531C>G (p.Ala844Gly) c.2282C>G (p.Ala761Gly) n.2716C>G c.2540C>G (p.Ala847Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302326C>T | CA2839764 | WFS1 | c.2567C>T (p.Ala856Val) c.2508C>T c.2531C>T (p.Ala844Val) c.2282C>T (p.Ala761Val) n.2716C>T c.2540C>T (p.Ala847Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302327C>A | CA438368359 | WFS1 | c.2568C>A (p.Ala856=) c.2509C>A c.2532C>A (p.Ala844=) c.2283C>A (p.Ala761=) n.2717C>A c.2541C>A (p.Ala847=) | |
4 | g.6302327C= | CA1435772614 | WFS1 | c.2568C= (p.Ala856=) c.2509C= c.2532C= (p.Ala844=) c.2283C= (p.Ala761=) n.2717C= c.2541C= (p.Ala847=) | |
4 | g.6302327C>G | CA438368358 | WFS1 | c.2568C>G (p.Ala856=) c.2509C>G c.2532C>G (p.Ala844=) c.2283C>G (p.Ala761=) n.2717C>G c.2541C>G (p.Ala847=) | |
4 | g.6302327C>T | CA2839766 | WFS1 | c.2568C>T (p.Ala856=) c.2509C>T c.2532C>T (p.Ala844=) c.2283C>T (p.Ala761=) n.2717C>T c.2541C>T (p.Ala847=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
4 | g.6302328A= | CA1435772616 | WFS1 | c.2569A= (p.Ile857=) c.2510A= c.2533A= (p.Ile845=) c.2284A= (p.Ile762=) n.2718A= c.2542A= (p.Ile848=) | |
4 | g.6302328A>C | CA356179155 | WFS1 | c.2569A>C (p.Ile857Leu) c.2510A>C c.2533A>C (p.Ile845Leu) c.2284A>C (p.Ile762Leu) n.2718A>C c.2542A>C (p.Ile848Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302328A>G | CA2839767 | WFS1 | c.2569A>G (p.Ile857Val) c.2510A>G c.2533A>G (p.Ile845Val) c.2284A>G (p.Ile762Val) n.2718A>G c.2542A>G (p.Ile848Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302328A>T | CA356179156 | WFS1 | c.2569A>T (p.Ile857Phe) c.2510A>T c.2533A>T (p.Ile845Phe) c.2284A>T (p.Ile762Phe) n.2718A>T c.2542A>T (p.Ile848Phe) | ClinVar gnomAD v4 |
4 | g.6302329T>A | CA356179157 | WFS1 | c.2570T>A (p.Ile857Asn) c.2511T>A c.2534T>A (p.Ile845Asn) c.2285T>A (p.Ile762Asn) n.2719T>A c.2543T>A (p.Ile848Asn) | |
4 | g.6302329T>C | CA356179158 | WFS1 | c.2570T>C (p.Ile857Thr) c.2511T>C c.2534T>C (p.Ile845Thr) c.2285T>C (p.Ile762Thr) n.2719T>C c.2543T>C (p.Ile848Thr) | |
4 | g.6302329T>G | CA2839768 | WFS1 | c.2570T>G (p.Ile857Ser) c.2511T>G c.2534T>G (p.Ile845Ser) c.2285T>G (p.Ile762Ser) n.2719T>G c.2543T>G (p.Ile848Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6302329T= | CA1435772618 | WFS1 | c.2570T= (p.Ile857=) c.2511T= c.2534T= (p.Ile845=) c.2285T= (p.Ile762=) n.2719T= c.2543T= (p.Ile848=) | |
4 | g.6302330C>A | CA438211504 | WFS1 | c.2571C>A (p.Ile857=) c.2512C>A c.2535C>A (p.Ile845=) c.2286C>A (p.Ile762=) n.2720C>A c.2544C>A (p.Ile848=) | |
4 | g.6302330C= | CA1435772621 | WFS1 | c.2571C= (p.Ile857=) c.2512C= c.2535C= (p.Ile845=) c.2286C= (p.Ile762=) n.2720C= c.2544C= (p.Ile848=) | |
4 | g.6302330C>G | CA356179159 | WFS1 | c.2571C>G (p.Ile857Met) c.2512C>G c.2535C>G (p.Ile845Met) c.2286C>G (p.Ile762Met) n.2720C>G c.2544C>G (p.Ile848Met) | dbSNP gnomAD v2 |
4 | g.6302330C>T | CA91797798 | WFS1 | c.2571C>T (p.Ile857=) c.2512C>T c.2535C>T (p.Ile845=) c.2286C>T (p.Ile762=) n.2720C>T c.2544C>T (p.Ile848=) | dbSNP gnomAD v4 |
4 | g.6302331A= | CA1435772624 | WFS1 | c.2572A= (p.Ser858=) c.2513A= c.2536A= (p.Ser846=) c.2287A= (p.Ser763=) n.2721A= c.2545A= (p.Ser849=) | |
4 | g.6302331A>C | CA356179160 | WFS1 | c.2572A>C (p.Ser858Arg) c.2513A>C c.2536A>C (p.Ser846Arg) c.2287A>C (p.Ser763Arg) n.2721A>C c.2545A>C (p.Ser849Arg) | |
4 | g.6302331A>G | CA2839769 | WFS1 | c.2572A>G (p.Ser858Gly) c.2513A>G c.2536A>G (p.Ser846Gly) c.2287A>G (p.Ser763Gly) n.2721A>G c.2545A>G (p.Ser849Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6302331A>T | CA356179161 | WFS1 | c.2572A>T (p.Ser858Cys) c.2513A>T c.2536A>T (p.Ser846Cys) c.2287A>T (p.Ser763Cys) n.2721A>T c.2545A>T (p.Ser849Cys) | |
4 | g.6302331_6302334dup | CA549708053 | WFS1 | c.2572_2575dup (p.Cys859Ter) c.2513_2516dup c.2536_2539dup (p.Cys847Ter) c.2287_2290dup (p.Cys764Ter) n.2721_2724dup c.2545_2548dup (p.Cys850Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302332G>A | CA356179164 | WFS1 | c.2573G>A (p.Ser858Asn) c.2514G>A c.2537G>A (p.Ser846Asn) c.2288G>A (p.Ser763Asn) n.2722G>A c.2546G>A (p.Ser849Asn) | gnomAD v4 |
4 | g.6302332G>C | CA356179162 | WFS1 | c.2573G>C (p.Ser858Thr) c.2514G>C c.2537G>C (p.Ser846Thr) c.2288G>C (p.Ser763Thr) n.2722G>C c.2546G>C (p.Ser849Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6302332G= | CA1435772626 | WFS1 | c.2573G= (p.Ser858=) c.2514G= c.2537G= (p.Ser846=) c.2288G= (p.Ser763=) n.2722G= c.2546G= (p.Ser849=) | |
4 | g.6302332G>T | CA356179163 | WFS1 | c.2573G>T (p.Ser858Ile) c.2514G>T c.2537G>T (p.Ser846Ile) c.2288G>T (p.Ser763Ile) n.2722G>T c.2546G>T (p.Ser849Ile) | gnomAD v4 COSMIC |