Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.6277488C>A | CA438210421 | WFS1 | n.203C>A c.33C>A (p.Ser11=) c.23C>A c.-18+7474C>A (n.-18+7474C>A) c.42C>A (p.Ser14=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277488C= | CA1435762307 | WFS1 | n.203C= c.33C= (p.Ser11=) c.23C= c.-18+7474C= (n.-18+7474C=) c.42C= (p.Ser14=) | |
4 | g.6277488C>G | CA438210420 | WFS1 | n.203C>G c.33C>G (p.Ser11=) c.23C>G c.-18+7474C>G (n.-18+7474C>G) c.42C>G (p.Ser14=) | |
4 | g.6277488C>T | CA438210419 | WFS1 | n.203C>T c.33C>T (p.Ser11=) c.23C>T c.-18+7474C>T (n.-18+7474C>T) c.42C>T (p.Ser14=) | |
4 | g.6277489T>A | CA356169407 | WFS1 | n.204T>A c.34T>A (p.Cys12Ser) c.24T>A c.-18+7475T>A (n.-18+7475T>A) c.43T>A (p.Cys15Ser) | |
4 | g.6277489T>C | CA356169409 | WFS1 | n.204T>C c.34T>C (p.Cys12Arg) c.24T>C c.-18+7475T>C (n.-18+7475T>C) c.43T>C (p.Cys15Arg) | |
4 | g.6277489T>G | CA356169411 | WFS1 | n.204T>G c.34T>G (p.Cys12Gly) c.24T>G c.-18+7475T>G (n.-18+7475T>G) c.43T>G (p.Cys15Gly) | |
4 | g.6277490G>A | CA356169416 | WFS1 | n.205G>A c.35G>A (p.Cys12Tyr) c.25G>A c.-18+7476G>A (n.-18+7476G>A) c.44G>A (p.Cys15Tyr) | dbSNP |
4 | g.6277490G>C | CA356169413 | WFS1 | n.205G>C c.35G>C (p.Cys12Ser) c.25G>C c.-18+7476G>C (n.-18+7476G>C) c.44G>C (p.Cys15Ser) | |
4 | g.6277490G= | CA1435762309 | WFS1 | n.205G= c.35G= (p.Cys12=) c.25G= c.-18+7476G= (n.-18+7476G=) c.44G= (p.Cys15=) | |
4 | g.6277490G>T | CA356169415 | WFS1 | n.205G>T c.35G>T (p.Cys12Phe) c.25G>T c.-18+7476G>T (n.-18+7476G>T) c.44G>T (p.Cys15Phe) | |
4 | g.6277491C>A | CA356169419 | WFS1 | n.206C>A c.36C>A (p.Cys12Ter) c.26C>A c.-18+7477C>A (n.-18+7477C>A) c.45C>A (p.Cys15Ter) | gnomAD v4 |
4 | g.6277491C= | CA1435762313 | WFS1 | n.206C= c.36C= (p.Cys12=) c.26C= c.-18+7477C= (n.-18+7477C=) c.45C= (p.Cys15=) | |
4 | g.6277491C>G | CA356169421 | WFS1 | n.206C>G c.36C>G (p.Cys12Trp) c.26C>G c.-18+7477C>G (n.-18+7477C>G) c.45C>G (p.Cys15Trp) | |
4 | g.6277491C>T | CA438210422 | WFS1 | n.206C>T c.36C>T (p.Cys12=) c.26C>T c.-18+7477C>T (n.-18+7477C>T) c.45C>T (p.Cys15=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277492C>A | CA356169424 | WFS1 | n.207C>A c.37C>A (p.Pro13Thr) c.27C>A c.-18+7478C>A (n.-18+7478C>A) c.46C>A (p.Pro16Thr) | gnomAD v4 |
4 | g.6277492C>G | CA356169425 | WFS1 | n.207C>G c.37C>G (p.Pro13Ala) c.27C>G c.-18+7478C>G (n.-18+7478C>G) c.46C>G (p.Pro16Ala) | |
4 | g.6277492C>T | CA356169427 | WFS1 | n.207C>T c.37C>T (p.Pro13Ser) c.27C>T c.-18+7478C>T (n.-18+7478C>T) c.46C>T (p.Pro16Ser) | |
4 | g.6277493C>A | CA356169430 | WFS1 | n.208C>A c.38C>A (p.Pro13Gln) c.28C>A c.-18+7479C>A (n.-18+7479C>A) c.47C>A (p.Pro16Gln) | |
4 | g.6277493C= | CA1435762319 | WFS1 | n.208C= c.38C= (p.Pro13=) c.28C= c.-18+7479C= (n.-18+7479C=) c.47C= (p.Pro16=) | |
4 | g.6277493C>G | CA356169433 | WFS1 | n.208C>G c.38C>G (p.Pro13Arg) c.28C>G c.-18+7479C>G (n.-18+7479C>G) c.47C>G (p.Pro16Arg) | |
4 | g.6277493C>T | CA356169431 | WFS1 | n.208C>T c.38C>T (p.Pro13Leu) c.28C>T c.-18+7479C>T (n.-18+7479C>T) c.47C>T (p.Pro16Leu) | dbSNP gnomAD v4 |
4 | g.6277494A>C | CA438210423 | WFS1 | n.209A>C c.39A>C (p.Pro13=) c.29A>C c.-18+7480A>C (n.-18+7480A>C) c.48A>C (p.Pro16=) | |
4 | g.6277494A>G | CA438210424 | WFS1 | n.209A>G c.39A>G (p.Pro13=) c.29A>G c.-18+7480A>G (n.-18+7480A>G) c.48A>G (p.Pro16=) | |
4 | g.6277494A>T | CA438210425 | WFS1 | n.209A>T c.39A>T (p.Pro13=) c.29A>T c.-18+7480A>T (n.-18+7480A>T) c.48A>T (p.Pro16=) | gnomAD v4 |
4 | g.6277495C>A | CA356169435 | WFS1 | n.210C>A c.40C>A (p.Gln14Lys) c.30C>A c.-18+7481C>A (n.-18+7481C>A) c.49C>A (p.Gln17Lys) | gnomAD v4 |
4 | g.6277495C= | CA1435762322 | WFS1 | n.210C= c.40C= (p.Gln14=) c.30C= c.-18+7481C= (n.-18+7481C=) c.49C= (p.Gln17=) | |
4 | g.6277495C>G | CA356169437 | WFS1 | n.210C>G c.40C>G (p.Gln14Glu) c.30C>G c.-18+7481C>G (n.-18+7481C>G) c.49C>G (p.Gln17Glu) | |
4 | g.6277495C>T | CA356169439 | WFS1 | n.210C>T c.40C>T (p.Gln14Ter) c.30C>T c.-18+7481C>T (n.-18+7481C>T) c.49C>T (p.Gln17Ter) | dbSNP gnomAD v4 |
4 | g.6277496A= | CA1435762329 | WFS1 | n.211A= c.41A= (p.Gln14=) c.31A= c.-18+7482A= (n.-18+7482A=) c.50A= (p.Gln17=) | |
4 | g.6277496A>C | CA356169441 | WFS1 | n.211A>C c.41A>C (p.Gln14Pro) c.31A>C c.-18+7482A>C (n.-18+7482A>C) c.50A>C (p.Gln17Pro) | |
4 | g.6277496A>G | CA2838780 | WFS1 | n.211A>G c.41A>G (p.Gln14Arg) c.31A>G c.-18+7482A>G (n.-18+7482A>G) c.50A>G (p.Gln17Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277496A>T | CA356169444 | WFS1 | n.211A>T c.41A>T (p.Gln14Leu) c.31A>T c.-18+7482A>T (n.-18+7482A>T) c.50A>T (p.Gln17Leu) | gnomAD v4 |
4 | g.6277497G>A | CA438210426 | WFS1 | n.212G>A c.42G>A (p.Gln14=) c.32G>A c.-18+7483G>A (n.-18+7483G>A) c.51G>A (p.Gln17=) | dbSNP |
4 | g.6277497G>C | CA356169446 | WFS1 | n.212G>C c.42G>C (p.Gln14His) c.32G>C c.-18+7483G>C (n.-18+7483G>C) c.51G>C (p.Gln17His) | |
4 | g.6277497G= | CA1435762333 | WFS1 | n.212G= c.42G= (p.Gln14=) c.32G= c.-18+7483G= (n.-18+7483G=) c.51G= (p.Gln17=) | |
4 | g.6277497G>T | CA356169447 | WFS1 | n.212G>T c.42G>T (p.Gln14His) c.32G>T c.-18+7483G>T (n.-18+7483G>T) c.51G>T (p.Gln17His) | gnomAD v4 |
4 | g.6277498C>A | CA356169450 | WFS1 | n.213C>A c.43C>A (p.Pro15Thr) c.33C>A c.-18+7484C>A (n.-18+7484C>A) c.52C>A (p.Pro18Thr) | dbSNP gnomAD v4 |
4 | g.6277498C= | CA1435762339 | WFS1 | n.213C= c.43C= (p.Pro15=) c.33C= c.-18+7484C= (n.-18+7484C=) c.52C= (p.Pro18=) | |
4 | g.6277498C>G | CA356169452 | WFS1 | n.213C>G c.43C>G (p.Pro15Ala) c.33C>G c.-18+7484C>G (n.-18+7484C>G) c.52C>G (p.Pro18Ala) | |
4 | g.6277498C>T | CA356169453 | WFS1 | n.213C>T c.43C>T (p.Pro15Ser) c.33C>T c.-18+7484C>T (n.-18+7484C>T) c.52C>T (p.Pro18Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277502dup | CA2578035658 | WFS1 | n.217dup c.47dup (p.Pro17AlafsTer?) c.37dup c.-18+7488dup (n.-18+7488dup) c.56dup (p.Pro20AlafsTer?) | gnomAD v4 |
4 | g.6277499C>A | CA356169456 | WFS1 | n.214C>A c.44C>A (p.Pro15His) c.34C>A c.-18+7485C>A (n.-18+7485C>A) c.53C>A (p.Pro18His) | ClinVar |
4 | g.6277499C>G | CA356169459 | WFS1 | n.214C>G c.44C>G (p.Pro15Arg) c.34C>G c.-18+7485C>G (n.-18+7485C>G) c.53C>G (p.Pro18Arg) | gnomAD v4 |
4 | g.6277499C>T | CA356169458 | WFS1 | n.214C>T c.44C>T (p.Pro15Leu) c.34C>T c.-18+7485C>T (n.-18+7485C>T) c.53C>T (p.Pro18Leu) | |
4 | g.6277500C>A | CA438210427 | WFS1 | n.215C>A c.45C>A (p.Pro15=) c.35C>A c.-18+7486C>A (n.-18+7486C>A) c.54C>A (p.Pro18=) | ClinVar gnomAD v4 |
4 | g.6277500C= | CA1435762342 | WFS1 | n.215C= c.45C= (p.Pro15=) c.35C= c.-18+7486C= (n.-18+7486C=) c.54C= (p.Pro18=) | |
4 | g.6277500C>G | CA438210428 | WFS1 | n.215C>G c.45C>G (p.Pro15=) c.35C>G c.-18+7486C>G (n.-18+7486C>G) c.54C>G (p.Pro18=) | |
4 | g.6277500C>T | CA2838781 | WFS1 | n.215C>T c.45C>T (p.Pro15=) c.35C>T c.-18+7486C>T (n.-18+7486C>T) c.54C>T (p.Pro18=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277501C>A | CA356169462 | WFS1 | n.216C>A c.46C>A (p.Pro16Thr) c.36C>A c.-18+7487C>A (n.-18+7487C>A) c.55C>A (p.Pro19Thr) | gnomAD v4 |
4 | g.6277501C>G | CA356169463 | WFS1 | n.216C>G c.46C>G (p.Pro16Ala) c.36C>G c.-18+7487C>G (n.-18+7487C>G) c.55C>G (p.Pro19Ala) | gnomAD v4 |
4 | g.6277501C>T | CA356169465 | WFS1 | n.216C>T c.46C>T (p.Pro16Ser) c.36C>T c.-18+7487C>T (n.-18+7487C>T) c.55C>T (p.Pro19Ser) | gnomAD v4 |
4 | g.6277502C>A | CA356169467 | WFS1 | n.217C>A c.47C>A (p.Pro16Gln) c.37C>A c.-18+7488C>A (n.-18+7488C>A) c.56C>A (p.Pro19Gln) | gnomAD v4 |
4 | g.6277502C= | CA1435762347 | WFS1 | n.217C= c.47C= (p.Pro16=) c.37C= c.-18+7488C= (n.-18+7488C=) c.56C= (p.Pro19=) | |
4 | g.6277502C>G | CA356169469 | WFS1 | n.217C>G c.47C>G (p.Pro16Arg) c.37C>G c.-18+7488C>G (n.-18+7488C>G) c.56C>G (p.Pro19Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277502C>T | CA2838782 | WFS1 | n.217C>T c.47C>T (p.Pro16Leu) c.37C>T c.-18+7488C>T (n.-18+7488C>T) c.56C>T (p.Pro19Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277503del | CA2760283574 | WFS1 | n.218del c.48del (p.Pro17GlnfsTer?) c.38del c.-18+7489del (n.-18+7489del) c.57del (p.Pro20GlnfsTer?) | |
4 | g.6277503G>A | CA2838783 | WFS1 | n.218G>A c.48G>A (p.Pro16=) c.38G>A c.-18+7489G>A (n.-18+7489G>A) c.57G>A (p.Pro19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277503G>C | CA438210429 | WFS1 | n.218G>C c.48G>C (p.Pro16=) c.38G>C c.-18+7489G>C (n.-18+7489G>C) c.57G>C (p.Pro19=) | gnomAD v4 |
4 | g.6277503G= | CA1435762350 | WFS1 | n.218G= c.48G= (p.Pro16=) c.38G= c.-18+7489G= (n.-18+7489G=) c.57G= (p.Pro19=) | |
4 | g.6277503G>T | CA438210430 | WFS1 | n.218G>T c.48G>T (p.Pro16=) c.38G>T c.-18+7489G>T (n.-18+7489G>T) c.57G>T (p.Pro19=) | gnomAD v4 |
4 | g.6277504C>A | CA356169473 | WFS1 | n.219C>A c.49C>A (p.Pro17Thr) c.39C>A c.-18+7490C>A (n.-18+7490C>A) c.58C>A (p.Pro20Thr) | gnomAD v4 |
4 | g.6277504C= | CA1435762353 | WFS1 | n.219C= c.49C= (p.Pro17=) c.39C= c.-18+7490C= (n.-18+7490C=) c.58C= (p.Pro20=) | |
4 | g.6277504C>G | CA356169475 | WFS1 | n.219C>G c.49C>G (p.Pro17Ala) c.39C>G c.-18+7490C>G (n.-18+7490C>G) c.58C>G (p.Pro20Ala) | |
4 | g.6277504C>T | CA356169476 | WFS1 | n.219C>T c.49C>T (p.Pro17Ser) c.39C>T c.-18+7490C>T (n.-18+7490C>T) c.58C>T (p.Pro20Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277505C>A | CA356169479 | WFS1 | n.220C>A c.50C>A (p.Pro17Gln) c.40C>A c.-18+7491C>A (n.-18+7491C>A) c.59C>A (p.Pro20Gln) | gnomAD v4 |
4 | g.6277505C= | CA1435762356 | WFS1 | n.220C= c.50C= (p.Pro17=) c.40C= c.-18+7491C= (n.-18+7491C=) c.59C= (p.Pro20=) | |
4 | g.6277505C>G | CA356169481 | WFS1 | n.220C>G c.50C>G (p.Pro17Arg) c.40C>G c.-18+7491C>G (n.-18+7491C>G) c.59C>G (p.Pro20Arg) | dbSNP gnomAD v4 |
4 | g.6277505C>T | CA2838784 | WFS1 | n.220C>T c.50C>T (p.Pro17Leu) c.40C>T c.-18+7491C>T (n.-18+7491C>T) c.59C>T (p.Pro20Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277506A>C | CA438210431 | WFS1 | n.221A>C c.51A>C (p.Pro17=) c.41A>C c.-18+7492A>C (n.-18+7492A>C) c.60A>C (p.Pro20=) | |
4 | g.6277506A>G | CA438210433 | WFS1 | n.221A>G c.51A>G (p.Pro17=) c.41A>G c.-18+7492A>G (n.-18+7492A>G) c.60A>G (p.Pro20=) | gnomAD v4 |
4 | g.6277506A>T | CA438210432 | WFS1 | n.221A>T c.51A>T (p.Pro17=) c.41A>T c.-18+7492A>T (n.-18+7492A>T) c.60A>T (p.Pro20=) | |
4 | g.6277507G>A | CA356169488 | WFS1 | n.222G>A c.52G>A (p.Ala18Thr) c.42G>A c.-18+7493G>A (n.-18+7493G>A) c.61G>A (p.Ala21Thr) | gnomAD v4 |
4 | g.6277507G>C | CA356169484 | WFS1 | n.222G>C c.52G>C (p.Ala18Pro) c.42G>C c.-18+7493G>C (n.-18+7493G>C) c.61G>C (p.Ala21Pro) | |
4 | g.6277507G>T | CA356169486 | WFS1 | n.222G>T c.52G>T (p.Ala18Ser) c.42G>T c.-18+7493G>T (n.-18+7493G>T) c.61G>T (p.Ala21Ser) | gnomAD v4 |
4 | g.6277508C>A | CA91787209 | WFS1 | n.223C>A c.53C>A (p.Ala18Glu) c.43C>A c.-18+7494C>A (n.-18+7494C>A) c.62C>A (p.Ala21Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277508C= | CA1435762360 | WFS1 | n.223C= c.53C= (p.Ala18=) c.43C= c.-18+7494C= (n.-18+7494C=) c.62C= (p.Ala21=) | |
4 | g.6277508C>G | CA356169491 | WFS1 | n.223C>G c.53C>G (p.Ala18Gly) c.43C>G c.-18+7494C>G (n.-18+7494C>G) c.62C>G (p.Ala21Gly) | gnomAD v4 |
4 | g.6277508C>T | CA356169493 | WFS1 | n.223C>T c.53C>T (p.Ala18Val) c.43C>T c.-18+7494C>T (n.-18+7494C>T) c.62C>T (p.Ala21Val) | gnomAD v4 |
4 | g.6277509A>C | CA438210434 | WFS1 | n.224A>C c.54A>C (p.Ala18=) c.44A>C c.-18+7495A>C (n.-18+7495A>C) c.63A>C (p.Ala21=) | |
4 | g.6277509A>G | CA438210435 | WFS1 | n.224A>G c.54A>G (p.Ala18=) c.44A>G c.-18+7495A>G (n.-18+7495A>G) c.63A>G (p.Ala21=) | |
4 | g.6277509A>T | CA438210436 | WFS1 | n.224A>T c.54A>T (p.Ala18=) c.44A>T c.-18+7495A>T (n.-18+7495A>T) c.63A>T (p.Ala21=) | |
4 | g.6277510C>A | CA356169494 | WFS1 | n.225C>A c.55C>A (p.Pro19Thr) c.45C>A c.-18+7496C>A (n.-18+7496C>A) c.64C>A (p.Pro22Thr) | |
4 | g.6277510C= | CA1435762363 | WFS1 | n.225C= c.55C= (p.Pro19=) c.45C= c.-18+7496C= (n.-18+7496C=) c.64C= (p.Pro22=) | |
4 | g.6277510C>G | CA2838785 | WFS1 | n.225C>G c.55C>G (p.Pro19Ala) c.45C>G c.-18+7496C>G (n.-18+7496C>G) c.64C>G (p.Pro22Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277510C>T | CA356169497 | WFS1 | n.225C>T c.55C>T (p.Pro19Ser) c.45C>T c.-18+7496C>T (n.-18+7496C>T) c.64C>T (p.Pro22Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277512_6277519dup | CA2739270013 | WFS1 | n.227_234dup c.57_64dup (p.Gln22ArgfsTer?) c.47_54dup c.-18+7498_-18+7505dup (n.-18+7498_-18+7505dup) c.66_73dup (p.Gln25ArgfsTer?) | ClinVar |
4 | g.6277511C>A | CA356169499 | WFS1 | n.226C>A c.56C>A (p.Pro19Gln) c.46C>A c.-18+7497C>A (n.-18+7497C>A) c.65C>A (p.Pro22Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277511C= | CA1435762368 | WFS1 | n.226C= c.56C= (p.Pro19=) c.46C= c.-18+7497C= (n.-18+7497C=) c.65C= (p.Pro22=) | |
4 | g.6277511C>G | CA356169501 | WFS1 | n.226C>G c.56C>G (p.Pro19Arg) c.46C>G c.-18+7497C>G (n.-18+7497C>G) c.65C>G (p.Pro22Arg) | |
4 | g.6277511C>T | CA320079 | WFS1 | n.226C>T c.56C>T (p.Pro19Leu) c.46C>T c.-18+7497C>T (n.-18+7497C>T) c.65C>T (p.Pro22Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277512G>A | CA438210437 | WFS1 | n.227G>A c.57G>A (p.Pro19=) c.47G>A c.-18+7498G>A (n.-18+7498G>A) c.66G>A (p.Pro22=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277512G>C | CA438210439 | WFS1 | n.227G>C c.57G>C (p.Pro19=) c.47G>C c.-18+7498G>C (n.-18+7498G>C) c.66G>C (p.Pro22=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277512G= | CA1435762371 | WFS1 | n.227G= c.57G= (p.Pro19=) c.47G= c.-18+7498G= (n.-18+7498G=) c.66G= (p.Pro22=) | |
4 | g.6277512G>T | CA438210438 | WFS1 | n.227G>T c.57G>T (p.Pro19=) c.47G>T c.-18+7498G>T (n.-18+7498G>T) c.66G>T (p.Pro22=) | gnomAD v4 |
4 | g.6277513C>A | CA356169504 | WFS1 | n.228C>A c.58C>A (p.Gln20Lys) c.48C>A c.-18+7499C>A (n.-18+7499C>A) c.67C>A (p.Gln23Lys) | gnomAD v4 |
4 | g.6277513C= | CA1435762378 | WFS1 | n.228C= c.58C= (p.Gln20=) c.48C= c.-18+7499C= (n.-18+7499C=) c.67C= (p.Gln23=) | |
4 | g.6277513C>G | CA356169506 | WFS1 | n.228C>G c.58C>G (p.Gln20Glu) c.48C>G c.-18+7499C>G (n.-18+7499C>G) c.67C>G (p.Gln23Glu) | |
4 | g.6277513C>T | CA356169508 | WFS1 | n.228C>T c.58C>T (p.Gln20Ter) c.48C>T c.-18+7499C>T (n.-18+7499C>T) c.67C>T (p.Gln23Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277514A>C | CA356169510 | WFS1 | n.229A>C c.59A>C (p.Gln20Pro) c.49A>C c.-18+7500A>C (n.-18+7500A>C) c.68A>C (p.Gln23Pro) | |
4 | g.6277514A>G | CA356169514 | WFS1 | n.229A>G c.59A>G (p.Gln20Arg) c.49A>G c.-18+7500A>G (n.-18+7500A>G) c.68A>G (p.Gln23Arg) | gnomAD v4 |
4 | g.6277514A>T | CA356169512 | WFS1 | n.229A>T c.59A>T (p.Gln20Leu) c.49A>T c.-18+7500A>T (n.-18+7500A>T) c.68A>T (p.Gln23Leu) | gnomAD v4 |
4 | g.6277515G>A | CA438210440 | WFS1 | n.230G>A c.60G>A (p.Gln20=) c.50G>A c.-18+7501G>A (n.-18+7501G>A) c.69G>A (p.Gln23=) | gnomAD v4 |
4 | g.6277515G>C | CA356169516 | WFS1 | n.230G>C c.60G>C (p.Gln20His) c.50G>C c.-18+7501G>C (n.-18+7501G>C) c.69G>C (p.Gln23His) | gnomAD v4 |
4 | g.6277515G>T | CA356169518 | WFS1 | n.230G>T c.60G>T (p.Gln20His) c.50G>T c.-18+7501G>T (n.-18+7501G>T) c.69G>T (p.Gln23His) | gnomAD v4 |
4 | g.6277516C>A | CA2838787 | WFS1 | n.231C>A c.61C>A (p.Pro21Thr) c.51C>A c.-18+7502C>A (n.-18+7502C>A) c.70C>A (p.Pro24Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277516C= | CA1435762384 | WFS1 | n.231C= c.61C= (p.Pro21=) c.51C= c.-18+7502C= (n.-18+7502C=) c.70C= (p.Pro24=) | |
4 | g.6277516C>G | CA2838786 | WFS1 | n.231C>G c.61C>G (p.Pro21Ala) c.51C>G c.-18+7502C>G (n.-18+7502C>G) c.70C>G (p.Pro24Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277516C>T | CA356169520 | WFS1 | n.231C>T c.61C>T (p.Pro21Ser) c.51C>T c.-18+7502C>T (n.-18+7502C>T) c.70C>T (p.Pro24Ser) | dbSNP gnomAD v4 |
4 | g.6277517C>A | CA356169522 | WFS1 | n.232C>A c.62C>A (p.Pro21His) c.52C>A c.-18+7503C>A (n.-18+7503C>A) c.71C>A (p.Pro24His) | gnomAD v4 |
4 | g.6277517C= | CA1435762390 | WFS1 | n.232C= c.62C= (p.Pro21=) c.52C= c.-18+7503C= (n.-18+7503C=) c.71C= (p.Pro24=) | |
4 | g.6277517C>G | CA356169523 | WFS1 | n.232C>G c.62C>G (p.Pro21Arg) c.52C>G c.-18+7503C>G (n.-18+7503C>G) c.71C>G (p.Pro24Arg) | |
4 | g.6277517C>T | CA356169525 | WFS1 | n.232C>T c.62C>T (p.Pro21Leu) c.52C>T c.-18+7503C>T (n.-18+7503C>T) c.71C>T (p.Pro24Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277518C>A | CA438210441 | WFS1 | n.233C>A c.63C>A (p.Pro21=) c.53C>A c.-18+7504C>A (n.-18+7504C>A) c.72C>A (p.Pro24=) | gnomAD v4 |
4 | g.6277518C= | CA1435762394 | WFS1 | n.233C= c.63C= (p.Pro21=) c.53C= c.-18+7504C= (n.-18+7504C=) c.72C= (p.Pro24=) | |
4 | g.6277518C>G | CA438210442 | WFS1 | n.233C>G c.63C>G (p.Pro21=) c.53C>G c.-18+7504C>G (n.-18+7504C>G) c.72C>G (p.Pro24=) | dbSNP gnomAD v4 |
4 | g.6277518C>T | CA438210443 | WFS1 | n.233C>T c.63C>T (p.Pro21=) c.53C>T c.-18+7504C>T (n.-18+7504C>T) c.72C>T (p.Pro24=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277519C>A | CA356169527 | WFS1 | n.234C>A c.64C>A (p.Gln22Lys) c.54C>A c.-18+7505C>A (n.-18+7505C>A) c.73C>A (p.Gln25Lys) | gnomAD v4 |
4 | g.6277519C= | CA1435762395 | WFS1 | n.234C= c.64C= (p.Gln22=) c.54C= c.-18+7505C= (n.-18+7505C=) c.73C= (p.Gln25=) | |
4 | g.6277519C>G | CA356169529 | WFS1 | n.234C>G c.64C>G (p.Gln22Glu) c.54C>G c.-18+7505C>G (n.-18+7505C>G) c.73C>G (p.Gln25Glu) | |
4 | g.6277519C>T | CA356169531 | WFS1 | n.234C>T c.64C>T (p.Gln22Ter) c.54C>T c.-18+7505C>T (n.-18+7505C>T) c.73C>T (p.Gln25Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277520A>C | CA356169537 | WFS1 | n.235A>C c.65A>C (p.Gln22Pro) c.55A>C c.-18+7506A>C (n.-18+7506A>C) c.74A>C (p.Gln25Pro) | gnomAD v4 |
4 | g.6277520A>G | CA356169535 | WFS1 | n.235A>G c.65A>G (p.Gln22Arg) c.55A>G c.-18+7506A>G (n.-18+7506A>G) c.74A>G (p.Gln25Arg) | gnomAD v4 |
4 | g.6277520A>T | CA356169533 | WFS1 | n.235A>T c.65A>T (p.Gln22Leu) c.55A>T c.-18+7506A>T (n.-18+7506A>T) c.74A>T (p.Gln25Leu) | |
4 | g.6277521G>A | CA438210444 | WFS1 | n.236G>A c.66G>A (p.Gln22=) c.56G>A c.-18+7507G>A (n.-18+7507G>A) c.75G>A (p.Gln25=) | gnomAD v4 |
4 | g.6277521G>C | CA356169538 | WFS1 | n.236G>C c.66G>C (p.Gln22His) c.56G>C c.-18+7507G>C (n.-18+7507G>C) c.75G>C (p.Gln25His) | gnomAD v4 |
4 | g.6277521G>T | CA356169540 | WFS1 | n.236G>T c.66G>T (p.Gln22His) c.56G>T c.-18+7507G>T (n.-18+7507G>T) c.75G>T (p.Gln25His) | gnomAD v4 |
4 | g.6277522G>A | CA356169542 | WFS1 | n.237G>A c.67G>A (p.Ala23Thr) c.57G>A c.-18+7508G>A (n.-18+7508G>A) c.66+1G>A (n.66+1G>A) c.76G>A (p.Ala26Thr) | gnomAD v4 |
4 | g.6277522G>C | CA356169544 | WFS1 | n.237G>C c.67G>C (p.Ala23Pro) c.57G>C c.-18+7508G>C (n.-18+7508G>C) c.66+1G>C (n.66+1G>C) c.76G>C (p.Ala26Pro) | |
4 | g.6277522G>T | CA356169546 | WFS1 | n.237G>T c.67G>T (p.Ala23Ser) c.57G>T c.-18+7508G>T (n.-18+7508G>T) c.66+1G>T (n.66+1G>T) c.76G>T (p.Ala26Ser) | ClinVar dbSNP |
4 | g.6277523C>A | CA356169548 | WFS1 | n.238C>A c.68C>A (p.Ala23Glu) c.58C>A c.-18+7509C>A (n.-18+7509C>A) c.66+2C>A (n.66+2C>A) c.77C>A (p.Ala26Glu) | gnomAD v4 |
4 | g.6277523C= | CA1435762397 | WFS1 | n.238C= c.68C= (p.Ala23=) c.58C= c.-18+7509C= (n.-18+7509C=) c.66+2C= (n.66+2C=) c.77C= (p.Ala26=) | |
4 | g.6277523C>G | CA356169550 | WFS1 | n.238C>G c.68C>G (p.Ala23Gly) c.58C>G c.-18+7509C>G (n.-18+7509C>G) c.66+2C>G (n.66+2C>G) c.77C>G (p.Ala26Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277523C>T | CA91787256 | WFS1 | n.238C>T c.68C>T (p.Ala23Val) c.58C>T c.-18+7509C>T (n.-18+7509C>T) c.66+2C>T (n.66+2C>T) c.77C>T (p.Ala26Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277524G>A | CA2838788 | WFS1 | n.239G>A c.69G>A (p.Ala23=) c.59G>A c.-18+7510G>A (n.-18+7510G>A) c.66+3G>A (n.66+3G>A) c.78G>A (p.Ala26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277524G>C | CA438210445 | WFS1 | n.239G>C c.69G>C (p.Ala23=) c.59G>C c.-18+7510G>C (n.-18+7510G>C) c.66+3G>C (n.66+3G>C) c.78G>C (p.Ala26=) | |
4 | g.6277524G= | CA1435762400 | WFS1 | n.239G= c.69G= (p.Ala23=) c.59G= c.-18+7510G= (n.-18+7510G=) c.66+3G= (n.66+3G=) c.78G= (p.Ala26=) | |
4 | g.6277524G>T | CA438210446 | WFS1 | n.239G>T c.69G>T (p.Ala23=) c.59G>T c.-18+7510G>T (n.-18+7510G>T) c.66+3G>T (n.66+3G>T) c.78G>T (p.Ala26=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277525C>A | CA356169553 | WFS1 | n.240C>A c.70C>A (p.Arg24Ser) c.60C>A c.-18+7511C>A (n.-18+7511C>A) c.66+4C>A (n.66+4C>A) c.79C>A (p.Arg27Ser) | gnomAD v4 |
4 | g.6277525C= | CA1435762407 | WFS1 | n.240C= c.70C= (p.Arg24=) c.60C= c.-18+7511C= (n.-18+7511C=) c.66+4C= (n.66+4C=) c.79C= (p.Arg27=) | |
4 | g.6277525C>G | CA356169554 | WFS1 | n.240C>G c.70C>G (p.Arg24Gly) c.60C>G c.-18+7511C>G (n.-18+7511C>G) c.66+4C>G (n.66+4C>G) c.79C>G (p.Arg27Gly) | |
4 | g.6277525C>T | CA2838789 | WFS1 | n.240C>T c.70C>T (p.Arg24Cys) c.60C>T c.-18+7511C>T (n.-18+7511C>T) c.66+4C>T (n.66+4C>T) c.79C>T (p.Arg27Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277526G>A | CA2838790 | WFS1 | n.241G>A c.71G>A (p.Arg24His) c.61G>A c.-18+7512G>A (n.-18+7512G>A) c.66+5G>A (n.66+5G>A) c.80G>A (p.Arg27His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277526G>C | CA356169559 | WFS1 | n.241G>C c.71G>C (p.Arg24Pro) c.61G>C c.-18+7512G>C (n.-18+7512G>C) c.66+5G>C (n.66+5G>C) c.80G>C (p.Arg27Pro) | |
4 | g.6277526G= | CA1435762410 | WFS1 | n.241G= c.71G= (p.Arg24=) c.61G= c.-18+7512G= (n.-18+7512G=) c.66+5G= (n.66+5G=) c.80G= (p.Arg27=) | |
4 | g.6277526G>T | CA356169558 | WFS1 | n.241G>T c.71G>T (p.Arg24Leu) c.61G>T c.-18+7512G>T (n.-18+7512G>T) c.66+5G>T (n.66+5G>T) c.80G>T (p.Arg27Leu) | gnomAD v4 |
4 | g.6277527T>A | CA438210447 | WFS1 | n.242T>A c.72T>A (p.Arg24=) c.62T>A c.-18+7513T>A (n.-18+7513T>A) c.66+6T>A (n.66+6T>A) c.81T>A (p.Arg27=) | |
4 | g.6277527T>C | CA438210449 | WFS1 | n.242T>C c.72T>C (p.Arg24=) c.62T>C c.-18+7513T>C (n.-18+7513T>C) c.66+6T>C (n.66+6T>C) c.81T>C (p.Arg27=) | gnomAD v4 |
4 | g.6277527T>G | CA438210448 | WFS1 | n.242T>G c.72T>G (p.Arg24=) c.62T>G c.-18+7513T>G (n.-18+7513T>G) c.66+6T>G (n.66+6T>G) c.81T>G (p.Arg27=) | |
4 | g.6277528T>A | CA356169563 | WFS1 | n.243T>A c.73T>A (p.Ser25Thr) c.63T>A c.-18+7514T>A (n.-18+7514T>A) c.66+7T>A (n.66+7T>A) c.82T>A (p.Ser28Thr) | |
4 | g.6277528T>C | CA356169567 | WFS1 | n.243T>C c.73T>C (p.Ser25Pro) c.63T>C c.-18+7514T>C (n.-18+7514T>C) c.66+7T>C (n.66+7T>C) c.82T>C (p.Ser28Pro) | |
4 | g.6277528T>G | CA356169565 | WFS1 | n.243T>G c.73T>G (p.Ser25Ala) c.63T>G c.-18+7514T>G (n.-18+7514T>G) c.66+7T>G (n.66+7T>G) c.82T>G (p.Ser28Ala) | |
4 | g.6277529C>A | CA356169569 | WFS1 | n.244C>A c.74C>A (p.Ser25Tyr) c.64C>A c.-18+7515C>A (n.-18+7515C>A) c.66+8C>A (n.66+8C>A) c.83C>A (p.Ser28Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277529C= | CA1435762414 | WFS1 | n.244C= c.74C= (p.Ser25=) c.64C= c.-18+7515C= (n.-18+7515C=) c.66+8C= (n.66+8C=) c.83C= (p.Ser28=) | |
4 | g.6277529C>G | CA356169572 | WFS1 | n.244C>G c.74C>G (p.Ser25Cys) c.64C>G c.-18+7515C>G (n.-18+7515C>G) c.66+8C>G (n.66+8C>G) c.83C>G (p.Ser28Cys) | |
4 | g.6277529C>T | CA356169573 | WFS1 | n.244C>T c.74C>T (p.Ser25Phe) c.64C>T c.-18+7515C>T (n.-18+7515C>T) c.66+8C>T (n.66+8C>T) c.83C>T (p.Ser28Phe) | gnomAD v4 COSMIC |
4 | g.6277530C>A | CA438210450 | WFS1 | n.245C>A c.75C>A (p.Ser25=) c.65C>A c.-18+7516C>A (n.-18+7516C>A) c.66+9C>A (n.66+9C>A) c.84C>A (p.Ser28=) | gnomAD v4 |
4 | g.6277530C= | CA1435762418 | WFS1 | n.245C= c.75C= (p.Ser25=) c.65C= c.-18+7516C= (n.-18+7516C=) c.66+9C= (n.66+9C=) c.84C= (p.Ser28=) | |
4 | g.6277530C>G | CA438210451 | WFS1 | n.245C>G c.75C>G (p.Ser25=) c.65C>G c.-18+7516C>G (n.-18+7516C>G) c.66+9C>G (n.66+9C>G) c.84C>G (p.Ser28=) | |
4 | g.6277530C>T | CA438210452 | WFS1 | n.245C>T c.75C>T (p.Ser25=) c.65C>T c.-18+7516C>T (n.-18+7516C>T) c.66+9C>T (n.66+9C>T) c.84C>T (p.Ser28=) | dbSNP |
4 | g.6277531C>A | CA438210453 | WFS1 | n.246C>A c.76C>A (p.Arg26=) c.66C>A c.-18+7517C>A (n.-18+7517C>A) c.66+10C>A (n.66+10C>A) c.85C>A (p.Arg29=) | gnomAD v4 |
4 | g.6277531C= | CA1435762422 | WFS1 | n.246C= c.76C= (p.Arg26=) c.66C= c.-18+7517C= (n.-18+7517C=) c.66+10C= (n.66+10C=) c.85C= (p.Arg29=) | |
4 | g.6277531C>G | CA356169576 | WFS1 | n.246C>G c.76C>G (p.Arg26Gly) c.66C>G c.-18+7517C>G (n.-18+7517C>G) c.66+10C>G (n.66+10C>G) c.85C>G (p.Arg29Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277531C>T | CA2838791 | WFS1 | n.246C>T c.76C>T (p.Arg26Ter) c.66C>T c.-18+7517C>T (n.-18+7517C>T) c.66+10C>T (n.66+10C>T) c.85C>T (p.Arg29Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277532G>A | CA2838792 | WFS1 | n.247G>A c.77G>A (p.Arg26Gln) c.67G>A c.-18+7518G>A (n.-18+7518G>A) c.66+11G>A (n.66+11G>A) c.86G>A (p.Arg29Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277532G>C | CA356169580 | WFS1 | n.247G>C c.77G>C (p.Arg26Pro) c.67G>C c.-18+7518G>C (n.-18+7518G>C) c.66+11G>C (n.66+11G>C) c.86G>C (p.Arg29Pro) | |
4 | g.6277532G= | CA1435762427 | WFS1 | n.247G= c.77G= (p.Arg26=) c.67G= c.-18+7518G= (n.-18+7518G=) c.66+11G= (n.66+11G=) c.86G= (p.Arg29=) | |
4 | g.6277532G>T | CA356169582 | WFS1 | n.247G>T c.77G>T (p.Arg26Leu) c.67G>T c.-18+7518G>T (n.-18+7518G>T) c.66+11G>T (n.66+11G>T) c.86G>T (p.Arg29Leu) | gnomAD v4 |
4 | g.6277533A>C | CA438210454 | WFS1 | n.248A>C c.78A>C (p.Arg26=) c.68A>C c.-18+7519A>C (n.-18+7519A>C) c.66+12A>C (n.66+12A>C) c.87A>C (p.Arg29=) | |
4 | g.6277533A>G | CA438210456 | WFS1 | n.248A>G c.78A>G (p.Arg26=) c.68A>G c.-18+7519A>G (n.-18+7519A>G) c.66+12A>G (n.66+12A>G) c.87A>G (p.Arg29=) | |
4 | g.6277533A>T | CA438210455 | WFS1 | n.248A>T c.78A>T (p.Arg26=) c.68A>T c.-18+7519A>T (n.-18+7519A>T) c.66+12A>T (n.66+12A>T) c.87A>T (p.Arg29=) | |
4 | g.6277534C>A | CA356169584 | WFS1 | n.249C>A c.79C>A (p.Leu27Ile) c.69C>A c.-18+7520C>A (n.-18+7520C>A) c.66+13C>A (n.66+13C>A) c.88C>A (p.Leu30Ile) | gnomAD v4 |
4 | g.6277534C= | CA1435762430 | WFS1 | n.249C= c.79C= (p.Leu27=) c.69C= c.-18+7520C= (n.-18+7520C=) c.66+13C= (n.66+13C=) c.88C= (p.Leu30=) | |
4 | g.6277534C>G | CA356169587 | WFS1 | n.249C>G c.79C>G (p.Leu27Val) c.69C>G c.-18+7520C>G (n.-18+7520C>G) c.66+13C>G (n.66+13C>G) c.88C>G (p.Leu30Val) | gnomAD v4 |
4 | g.6277534C>T | CA356169585 | WFS1 | n.249C>T c.79C>T (p.Leu27Phe) c.69C>T c.-18+7520C>T (n.-18+7520C>T) c.66+13C>T (n.66+13C>T) c.88C>T (p.Leu30Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277535T>A | CA356169590 | WFS1 | n.250T>A c.80T>A (p.Leu27His) c.70T>A c.-18+7521T>A (n.-18+7521T>A) c.66+14T>A (n.66+14T>A) c.89T>A (p.Leu30His) | |
4 | g.6277535T>C | CA356169591 | WFS1 | n.250T>C c.80T>C (p.Leu27Pro) c.70T>C c.-18+7521T>C (n.-18+7521T>C) c.66+14T>C (n.66+14T>C) c.89T>C (p.Leu30Pro) | |
4 | g.6277535T>G | CA356169593 | WFS1 | n.250T>G c.80T>G (p.Leu27Arg) c.70T>G c.-18+7521T>G (n.-18+7521T>G) c.66+14T>G (n.66+14T>G) c.89T>G (p.Leu30Arg) | |
4 | g.6277536C>A | CA438210457 | WFS1 | n.251C>A c.81C>A (p.Leu27=) c.71C>A c.-18+7522C>A (n.-18+7522C>A) c.66+15C>A (n.66+15C>A) c.90C>A (p.Leu30=) | gnomAD v4 |
4 | g.6277536C= | CA1435762436 | WFS1 | n.251C= c.81C= (p.Leu27=) c.71C= c.-18+7522C= (n.-18+7522C=) c.66+15C= (n.66+15C=) c.90C= (p.Leu30=) | |
4 | g.6277536C>G | CA91787290 | WFS1 | n.251C>G c.81C>G (p.Leu27=) c.71C>G c.-18+7522C>G (n.-18+7522C>G) c.66+15C>G (n.66+15C>G) c.90C>G (p.Leu30=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277536C>T | CA2838793 | WFS1 | n.251C>T c.81C>T (p.Leu27=) c.71C>T c.-18+7522C>T (n.-18+7522C>T) c.66+15C>T (n.66+15C>T) c.90C>T (p.Leu30=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277537A>C | CA356169597 | WFS1 | n.252A>C c.82A>C (p.Asn28His) c.72A>C c.-18+7523A>C (n.-18+7523A>C) c.66+16A>C (n.66+16A>C) c.91A>C (p.Asn31His) | |
4 | g.6277537A>G | CA356169601 | WFS1 | n.252A>G c.82A>G (p.Asn28Asp) c.72A>G c.-18+7523A>G (n.-18+7523A>G) c.66+16A>G (n.66+16A>G) c.91A>G (p.Asn31Asp) | |
4 | g.6277537A>T | CA356169599 | WFS1 | n.252A>T c.82A>T (p.Asn28Tyr) c.72A>T c.-18+7523A>T (n.-18+7523A>T) c.66+16A>T (n.66+16A>T) c.91A>T (p.Asn31Tyr) | |
4 | g.6277538A= | CA1435762440 | WFS1 | n.253A= c.83A= (p.Asn28=) c.73A= c.-18+7524A= (n.-18+7524A=) c.66+17A= (n.66+17A=) c.92A= (p.Asn31=) | |
4 | g.6277538A>C | CA356169602 | WFS1 | n.253A>C c.83A>C (p.Asn28Thr) c.73A>C c.-18+7524A>C (n.-18+7524A>C) c.66+17A>C (n.66+17A>C) c.92A>C (p.Asn31Thr) | ClinVar |
4 | g.6277538A>G | CA136361 | WFS1 | n.253A>G c.83A>G (p.Asn28Ser) c.73A>G c.-18+7524A>G (n.-18+7524A>G) c.66+17A>G (n.66+17A>G) c.92A>G (p.Asn31Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277538A>T | CA356169605 | WFS1 | n.253A>T c.83A>T (p.Asn28Ile) c.73A>T c.-18+7524A>T (n.-18+7524A>T) c.66+17A>T (n.66+17A>T) c.92A>T (p.Asn31Ile) | |
4 | g.6277539T>A | CA356169607 | WFS1 | n.254T>A c.84T>A (p.Asn28Lys) c.74T>A c.-18+7525T>A (n.-18+7525T>A) c.66+18T>A (n.66+18T>A) c.93T>A (p.Asn31Lys) | gnomAD v4 |
4 | g.6277539T>C | CA438210458 | WFS1 | n.254T>C c.84T>C (p.Asn28=) c.74T>C c.-18+7525T>C (n.-18+7525T>C) c.66+18T>C (n.66+18T>C) c.93T>C (p.Asn31=) | gnomAD v4 COSMIC |
4 | g.6277539T>G | CA356169608 | WFS1 | n.254T>G c.84T>G (p.Asn28Lys) c.74T>G c.-18+7525T>G (n.-18+7525T>G) c.66+18T>G (n.66+18T>G) c.93T>G (p.Asn31Lys) | |
4 | g.6277540G>A | CA356169609 | WFS1 | n.255G>A c.85G>A (p.Ala29Thr) c.75G>A c.-18+7526G>A (n.-18+7526G>A) c.66+19G>A (n.66+19G>A) c.94G>A (p.Ala32Thr) | dbSNP gnomAD v4 |
4 | g.6277540G>C | CA91787295 | WFS1 | n.255G>C c.85G>C (p.Ala29Pro) c.75G>C c.-18+7526G>C (n.-18+7526G>C) c.66+19G>C (n.66+19G>C) c.94G>C (p.Ala32Pro) | dbSNP |
4 | g.6277540G= | CA1435762447 | WFS1 | n.255G= c.85G= (p.Ala29=) c.75G= c.-18+7526G= (n.-18+7526G=) c.66+19G= (n.66+19G=) c.94G= (p.Ala32=) | |
4 | g.6277540G>T | CA356169610 | WFS1 | n.255G>T c.85G>T (p.Ala29Ser) c.75G>T c.-18+7526G>T (n.-18+7526G>T) c.66+19G>T (n.66+19G>T) c.94G>T (p.Ala32Ser) | gnomAD v4 |
4 | g.6277541C>A | CA356169611 | WFS1 | n.256C>A c.86C>A (p.Ala29Asp) c.76C>A c.-18+7527C>A (n.-18+7527C>A) c.66+20C>A (n.66+20C>A) c.95C>A (p.Ala32Asp) | gnomAD v4 |
4 | g.6277541C>G | CA356169612 | WFS1 | n.256C>G c.86C>G (p.Ala29Gly) c.76C>G c.-18+7527C>G (n.-18+7527C>G) c.66+20C>G (n.66+20C>G) c.95C>G (p.Ala32Gly) | |
4 | g.6277541C>T | CA356169613 | WFS1 | n.256C>T c.86C>T (p.Ala29Val) c.76C>T c.-18+7527C>T (n.-18+7527C>T) c.66+20C>T (n.66+20C>T) c.95C>T (p.Ala32Val) | gnomAD v4 |
4 | g.6277542C>A | CA438210461 | WFS1 | n.257C>A c.87C>A (p.Ala29=) c.77C>A c.-18+7528C>A (n.-18+7528C>A) c.66+21C>A (n.66+21C>A) c.96C>A (p.Ala32=) | |
4 | g.6277542C>G | CA438210459 | WFS1 | n.257C>G c.87C>G (p.Ala29=) c.77C>G c.-18+7528C>G (n.-18+7528C>G) c.66+21C>G (n.66+21C>G) c.96C>G (p.Ala32=) | |
4 | g.6277542C>T | CA438210460 | WFS1 | n.257C>T c.87C>T (p.Ala29=) c.77C>T c.-18+7528C>T (n.-18+7528C>T) c.66+21C>T (n.66+21C>T) c.96C>T (p.Ala32=) | gnomAD v4 |
4 | g.6277543A>C | CA356169614 | WFS1 | n.258A>C c.88A>C (p.Thr30Pro) c.78A>C c.-18+7529A>C (n.-18+7529A>C) c.66+22A>C (n.66+22A>C) c.97A>C (p.Thr33Pro) | |
4 | g.6277543A>G | CA356169616 | WFS1 | n.258A>G c.88A>G (p.Thr30Ala) c.78A>G c.-18+7529A>G (n.-18+7529A>G) c.66+22A>G (n.66+22A>G) c.97A>G (p.Thr33Ala) | |
4 | g.6277543A>T | CA356169615 | WFS1 | n.258A>T c.88A>T (p.Thr30Ser) c.78A>T c.-18+7529A>T (n.-18+7529A>T) c.66+22A>T (n.66+22A>T) c.97A>T (p.Thr33Ser) | gnomAD v4 |
4 | g.6277544C>A | CA356169617 | WFS1 | n.259C>A c.89C>A (p.Thr30Lys) c.79C>A c.-18+7530C>A (n.-18+7530C>A) c.66+23C>A (n.66+23C>A) c.98C>A (p.Thr33Lys) | gnomAD v4 |
4 | g.6277544C>G | CA356169618 | WFS1 | n.259C>G c.89C>G (p.Thr30Arg) c.79C>G c.-18+7530C>G (n.-18+7530C>G) c.66+23C>G (n.66+23C>G) c.98C>G (p.Thr33Arg) | |
4 | g.6277544C>T | CA356169619 | WFS1 | n.259C>T c.89C>T (p.Thr30Ile) c.79C>T c.-18+7530C>T (n.-18+7530C>T) c.66+23C>T (n.66+23C>T) c.98C>T (p.Thr33Ile) | gnomAD v4 |
4 | g.6277545A= | CA1435762450 | WFS1 | n.260A= c.90A= (p.Thr30=) c.80A= c.-18+7531A= (n.-18+7531A=) c.66+24A= (n.66+24A=) c.99A= (p.Thr33=) | |
4 | g.6277545A>C | CA438210462 | WFS1 | n.260A>C c.90A>C (p.Thr30=) c.80A>C c.-18+7531A>C (n.-18+7531A>C) c.66+24A>C (n.66+24A>C) c.99A>C (p.Thr33=) | |
4 | g.6277545A>G | CA438210463 | WFS1 | n.260A>G c.90A>G (p.Thr30=) c.80A>G c.-18+7531A>G (n.-18+7531A>G) c.66+24A>G (n.66+24A>G) c.99A>G (p.Thr33=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277545A>T | CA438210464 | WFS1 | n.260A>T c.90A>T (p.Thr30=) c.80A>T c.-18+7531A>T (n.-18+7531A>T) c.66+24A>T (n.66+24A>T) c.99A>T (p.Thr33=) | |
4 | g.6277546G>A | CA2838794 | WFS1 | n.261G>A c.91G>A (p.Ala31Thr) c.81G>A c.-18+7532G>A (n.-18+7532G>A) c.66+25G>A (n.66+25G>A) c.100G>A (p.Ala34Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277546G>C | CA356169620 | WFS1 | n.261G>C c.91G>C (p.Ala31Pro) c.81G>C c.-18+7532G>C (n.-18+7532G>C) c.66+25G>C (n.66+25G>C) c.100G>C (p.Ala34Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277546G= | CA1435762453 | WFS1 | n.261G= c.91G= (p.Ala31=) c.81G= c.-18+7532G= (n.-18+7532G=) c.66+25G= (n.66+25G=) c.100G= (p.Ala34=) | |
4 | g.6277546G>T | CA356169621 | WFS1 | n.261G>T c.91G>T (p.Ala31Ser) c.81G>T c.-18+7532G>T (n.-18+7532G>T) c.66+25G>T (n.66+25G>T) c.100G>T (p.Ala34Ser) | gnomAD v4 |
4 | g.6277547C>A | CA356169622 | WFS1 | n.262C>A c.92C>A (p.Ala31Asp) c.82C>A c.-18+7533C>A (n.-18+7533C>A) c.66+26C>A (n.66+26C>A) c.101C>A (p.Ala34Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277547C= | CA1435762460 | WFS1 | n.262C= c.92C= (p.Ala31=) c.82C= c.-18+7533C= (n.-18+7533C=) c.66+26C= (n.66+26C=) c.101C= (p.Ala34=) | |
4 | g.6277547C>G | CA322377 | WFS1 | n.262C>G c.92C>G (p.Ala31Gly) c.82C>G c.-18+7533C>G (n.-18+7533C>G) c.66+26C>G (n.66+26C>G) c.101C>G (p.Ala34Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277547C>T | CA356169623 | WFS1 | n.262C>T c.92C>T (p.Ala31Val) c.82C>T c.-18+7533C>T (n.-18+7533C>T) c.66+26C>T (n.66+26C>T) c.101C>T (p.Ala34Val) | gnomAD v4 |
4 | g.6277548C>A | CA438210465 | WFS1 | n.263C>A c.93C>A (p.Ala31=) c.83C>A c.-18+7534C>A (n.-18+7534C>A) c.66+27C>A (n.66+27C>A) c.102C>A (p.Ala34=) | |
4 | g.6277548C= | CA1435762468 | WFS1 | n.263C= c.93C= (p.Ala31=) c.83C= c.-18+7534C= (n.-18+7534C=) c.66+27C= (n.66+27C=) c.102C= (p.Ala34=) | |
4 | g.6277548C>G | CA438210466 | WFS1 | n.263C>G c.93C>G (p.Ala31=) c.83C>G c.-18+7534C>G (n.-18+7534C>G) c.66+27C>G (n.66+27C>G) c.102C>G (p.Ala34=) | |
4 | g.6277548C>T | CA438210467 | WFS1 | n.263C>T c.93C>T (p.Ala31=) c.83C>T c.-18+7534C>T (n.-18+7534C>T) c.66+27C>T (n.66+27C>T) c.102C>T (p.Ala34=) | dbSNP gnomAD v4 |
4 | g.6277549T>A | CA356169624 | WFS1 | n.264T>A c.94T>A (p.Ser32Thr) c.84T>A c.-18+7535T>A (n.-18+7535T>A) c.66+28T>A (n.66+28T>A) c.103T>A (p.Ser35Thr) | |
4 | g.6277549T>C | CA356169625 | WFS1 | n.264T>C c.94T>C (p.Ser32Pro) c.84T>C c.-18+7535T>C (n.-18+7535T>C) c.66+28T>C (n.66+28T>C) c.103T>C (p.Ser35Pro) | gnomAD v4 |
4 | g.6277549T>G | CA356169626 | WFS1 | n.264T>G c.94T>G (p.Ser32Ala) c.84T>G c.-18+7535T>G (n.-18+7535T>G) c.66+28T>G (n.66+28T>G) c.103T>G (p.Ser35Ala) | |
4 | g.6277550C>A | CA356169628 | WFS1 | n.265C>A c.95C>A (p.Ser32Ter) c.85C>A c.-18+7536C>A (n.-18+7536C>A) c.66+29C>A (n.66+29C>A) c.104C>A (p.Ser35Ter) | gnomAD v4 |
4 | g.6277550C= | CA1435762474 | WFS1 | n.265C= c.95C= (p.Ser32=) c.85C= c.-18+7536C= (n.-18+7536C=) c.66+29C= (n.66+29C=) c.104C= (p.Ser35=) | |
4 | g.6277550C>G | CA356169627 | WFS1 | n.265C>G c.95C>G (p.Ser32Trp) c.85C>G c.-18+7536C>G (n.-18+7536C>G) c.66+29C>G (n.66+29C>G) c.104C>G (p.Ser35Trp) | dbSNP |
4 | g.6277550C>T | CA184028 | WFS1 | n.265C>T c.95C>T (p.Ser32Leu) c.85C>T c.-18+7536C>T (n.-18+7536C>T) c.66+29C>T (n.66+29C>T) c.104C>T (p.Ser35Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.6277551G>A | CA295566 | WFS1 | n.266G>A c.96G>A (p.Ser32=) c.86G>A c.-18+7537G>A (n.-18+7537G>A) c.66+30G>A (n.66+30G>A) c.105G>A (p.Ser35=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277551G>C | CA438210468 | WFS1 | n.266G>C c.96G>C (p.Ser32=) c.86G>C c.-18+7537G>C (n.-18+7537G>C) c.66+30G>C (n.66+30G>C) c.105G>C (p.Ser35=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277551G= | CA1435762481 | WFS1 | n.266G= c.96G= (p.Ser32=) c.86G= c.-18+7537G= (n.-18+7537G=) c.66+30G= (n.66+30G=) c.105G= (p.Ser35=) | |
4 | g.6277551G>T | CA438210469 | WFS1 | n.266G>T c.96G>T (p.Ser32=) c.86G>T c.-18+7537G>T (n.-18+7537G>T) c.66+30G>T (n.66+30G>T) c.105G>T (p.Ser35=) | |
4 | g.6277552T>A | CA356169629 | WFS1 | n.267T>A c.97T>A (p.Leu33Met) c.87T>A c.-18+7538T>A (n.-18+7538T>A) c.66+31T>A (n.66+31T>A) c.106T>A (p.Leu36Met) | gnomAD v4 |
4 | g.6277552T>C | CA438210470 | WFS1 | n.267T>C c.97T>C (p.Leu33=) c.87T>C c.-18+7538T>C (n.-18+7538T>C) c.66+31T>C (n.66+31T>C) c.106T>C (p.Leu36=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277552T>G | CA356169630 | WFS1 | n.267T>G c.97T>G (p.Leu33Val) c.87T>G c.-18+7538T>G (n.-18+7538T>G) c.66+31T>G (n.66+31T>G) c.106T>G (p.Leu36Val) | |
4 | g.6277552T= | CA1435762484 | WFS1 | n.267T= c.97T= (p.Leu33=) c.87T= c.-18+7538T= (n.-18+7538T=) c.66+31T= (n.66+31T=) c.106T= (p.Leu36=) | |
4 | g.6277553T>A | CA356169631 | WFS1 | n.268T>A c.98T>A (p.Leu33Ter) c.88T>A c.-18+7539T>A (n.-18+7539T>A) c.66+32T>A (n.66+32T>A) c.107T>A (p.Leu36Ter) | |
4 | g.6277553T>C | CA356169632 | WFS1 | n.268T>C c.98T>C (p.Leu33Ser) c.88T>C c.-18+7539T>C (n.-18+7539T>C) c.66+32T>C (n.66+32T>C) c.107T>C (p.Leu36Ser) | |
4 | g.6277553T>G | CA356169633 | WFS1 | n.268T>G c.98T>G (p.Leu33Trp) c.88T>G c.-18+7539T>G (n.-18+7539T>G) c.66+32T>G (n.66+32T>G) c.107T>G (p.Leu36Trp) | |
4 | g.6277554G>A | CA438210471 | WFS1 | n.269G>A c.99G>A (p.Leu33=) c.89G>A c.-18+7540G>A (n.-18+7540G>A) c.66+33G>A (n.66+33G>A) c.108G>A (p.Leu36=) | dbSNP gnomAD v4 |
4 | g.6277554G>C | CA356169634 | WFS1 | n.269G>C c.99G>C (p.Leu33Phe) c.89G>C c.-18+7540G>C (n.-18+7540G>C) c.66+33G>C (n.66+33G>C) c.108G>C (p.Leu36Phe) | |
4 | g.6277554G= | CA1435762486 | WFS1 | n.269G= c.99G= (p.Leu33=) c.89G= c.-18+7540G= (n.-18+7540G=) c.66+33G= (n.66+33G=) c.108G= (p.Leu36=) | |
4 | g.6277554G>T | CA356169635 | WFS1 | n.269G>T c.99G>T (p.Leu33Phe) c.89G>T c.-18+7540G>T (n.-18+7540G>T) c.66+33G>T (n.66+33G>T) c.108G>T (p.Leu36Phe) | gnomAD v4 |
4 | g.6277555G>A | CA356169636 | WFS1 | n.270G>A c.100G>A (p.Glu34Lys) c.90G>A c.-18+7541G>A (n.-18+7541G>A) c.66+34G>A (n.66+34G>A) c.109G>A (p.Glu37Lys) | gnomAD v4 |
4 | g.6277555G>C | CA356169637 | WFS1 | n.270G>C c.100G>C (p.Glu34Gln) c.90G>C c.-18+7541G>C (n.-18+7541G>C) c.66+34G>C (n.66+34G>C) c.109G>C (p.Glu37Gln) | |
4 | g.6277555G>T | CA356169638 | WFS1 | n.270G>T c.100G>T (p.Glu34Ter) c.90G>T c.-18+7541G>T (n.-18+7541G>T) c.66+34G>T (n.66+34G>T) c.109G>T (p.Glu37Ter) | gnomAD v4 |
4 | g.6277556A= | CA1435762491 | WFS1 | n.271A= c.101A= (p.Glu34=) c.91A= c.-18+7542A= (n.-18+7542A=) c.66+35A= (n.66+35A=) c.110A= (p.Glu37=) | |
4 | g.6277556A>C | CA356169641 | WFS1 | n.271A>C c.101A>C (p.Glu34Ala) c.91A>C c.-18+7542A>C (n.-18+7542A>C) c.66+35A>C (n.66+35A>C) c.110A>C (p.Glu37Ala) | |
4 | g.6277556A>G | CA356169640 | WFS1 | n.271A>G c.101A>G (p.Glu34Gly) c.91A>G c.-18+7542A>G (n.-18+7542A>G) c.66+35A>G (n.66+35A>G) c.110A>G (p.Glu37Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277556A>T | CA356169639 | WFS1 | n.271A>T c.101A>T (p.Glu34Val) c.91A>T c.-18+7542A>T (n.-18+7542A>T) c.66+35A>T (n.66+35A>T) c.110A>T (p.Glu37Val) | |
4 | g.6277557G>A | CA438210472 | WFS1 | n.272G>A c.102G>A (p.Glu34=) c.92G>A c.-18+7543G>A (n.-18+7543G>A) c.66+36G>A (n.66+36G>A) c.111G>A (p.Glu37=) | gnomAD v4 |
4 | g.6277557G>C | CA356169642 | WFS1 | n.272G>C c.102G>C (p.Glu34Asp) c.92G>C c.-18+7543G>C (n.-18+7543G>C) c.66+36G>C (n.66+36G>C) c.111G>C (p.Glu37Asp) | |
4 | g.6277557G>T | CA356169643 | WFS1 | n.272G>T c.102G>T (p.Glu34Asp) c.92G>T c.-18+7543G>T (n.-18+7543G>T) c.66+36G>T (n.66+36G>T) c.111G>T (p.Glu37Asp) | gnomAD v4 |
4 | g.6277558C>A | CA356169644 | WFS1 | n.273C>A c.103C>A (p.Gln35Lys) c.93C>A c.-18+7544C>A (n.-18+7544C>A) c.66+37C>A (n.66+37C>A) c.112C>A (p.Gln38Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277558C= | CA1435762496 | WFS1 | n.273C= c.103C= (p.Gln35=) c.93C= c.-18+7544C= (n.-18+7544C=) c.66+37C= (n.66+37C=) c.112C= (p.Gln38=) | |
4 | g.6277558C>G | CA356169645 | WFS1 | n.273C>G c.103C>G (p.Gln35Glu) c.93C>G c.-18+7544C>G (n.-18+7544C>G) c.66+37C>G (n.66+37C>G) c.112C>G (p.Gln38Glu) | dbSNP gnomAD v4 |
4 | g.6277558C>T | CA356169646 | WFS1 | n.273C>T c.103C>T (p.Gln35Ter) c.93C>T c.-18+7544C>T (n.-18+7544C>T) c.66+37C>T (n.66+37C>T) c.112C>T (p.Gln38Ter) | gnomAD v4 |
4 | g.6277559A= | CA1435762500 | WFS1 | n.274A= c.104A= (p.Gln35=) c.94A= c.-18+7545A= (n.-18+7545A=) c.66+38A= (n.66+38A=) c.113A= (p.Gln38=) | |
4 | g.6277559A>C | CA356169647 | WFS1 | n.274A>C c.104A>C (p.Gln35Pro) c.94A>C c.-18+7545A>C (n.-18+7545A>C) c.66+38A>C (n.66+38A>C) c.113A>C (p.Gln38Pro) | |
4 | g.6277559A>G | CA356169648 | WFS1 | n.274A>G c.104A>G (p.Gln35Arg) c.94A>G c.-18+7545A>G (n.-18+7545A>G) c.66+38A>G (n.66+38A>G) c.113A>G (p.Gln38Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277559A>T | CA356169649 | WFS1 | n.274A>T c.104A>T (p.Gln35Leu) c.94A>T c.-18+7545A>T (n.-18+7545A>T) c.66+38A>T (n.66+38A>T) c.113A>T (p.Gln38Leu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277560G>A | CA438210474 | WFS1 | n.275G>A c.105G>A (p.Gln35=) c.95G>A c.-18+7546G>A (n.-18+7546G>A) c.66+39G>A (n.66+39G>A) c.114G>A (p.Gln38=) | gnomAD v4 |
4 | g.6277560G>C | CA356169650 | WFS1 | n.275G>C c.105G>C (p.Gln35His) c.95G>C c.-18+7546G>C (n.-18+7546G>C) c.66+39G>C (n.66+39G>C) c.114G>C (p.Gln38His) | |
4 | g.6277560G= | CA1435762505 | WFS1 | n.275G= c.105G= (p.Gln35=) c.95G= c.-18+7546G= (n.-18+7546G=) c.66+39G= (n.66+39G=) c.114G= (p.Gln38=) | |
4 | g.6277560G>T | CA356169651 | WFS1 | n.275G>T c.105G>T (p.Gln35His) c.95G>T c.-18+7546G>T (n.-18+7546G>T) c.66+39G>T (n.66+39G>T) c.114G>T (p.Gln38His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277561G>A | CA356169652 | WFS1 | n.276G>A c.106G>A (p.Glu36Lys) c.96G>A c.-18+7547G>A (n.-18+7547G>A) c.66+40G>A (n.66+40G>A) c.115G>A (p.Glu39Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277561G>C | CA2838795 | WFS1 | n.276G>C c.106G>C (p.Glu36Gln) c.96G>C c.-18+7547G>C (n.-18+7547G>C) c.66+40G>C (n.66+40G>C) c.115G>C (p.Glu39Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277561G= | CA1435762508 | WFS1 | n.276G= c.106G= (p.Glu36=) c.96G= c.-18+7547G= (n.-18+7547G=) c.66+40G= (n.66+40G=) c.115G= (p.Glu39=) | |
4 | g.6277561G>T | CA356169653 | WFS1 | n.276G>T c.106G>T (p.Glu36Ter) c.96G>T c.-18+7547G>T (n.-18+7547G>T) c.66+40G>T (n.66+40G>T) c.115G>T (p.Glu39Ter) | |
4 | g.6277562A>C | CA356169656 | WFS1 | n.277A>C c.107A>C (p.Glu36Ala) c.97A>C c.-18+7548A>C (n.-18+7548A>C) c.66+41A>C (n.66+41A>C) c.116A>C (p.Glu39Ala) | |
4 | g.6277562A>G | CA356169655 | WFS1 | n.277A>G c.107A>G (p.Glu36Gly) c.97A>G c.-18+7548A>G (n.-18+7548A>G) c.66+41A>G (n.66+41A>G) c.116A>G (p.Glu39Gly) | |
4 | g.6277562A>T | CA356169654 | WFS1 | n.277A>T c.107A>T (p.Glu36Val) c.97A>T c.-18+7548A>T (n.-18+7548A>T) c.66+41A>T (n.66+41A>T) c.116A>T (p.Glu39Val) | |
4 | g.6277563G>A | CA438210475 | WFS1 | n.278G>A c.108G>A (p.Glu36=) c.98G>A c.-18+7549G>A (n.-18+7549G>A) c.66+42G>A (n.66+42G>A) c.117G>A (p.Glu39=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277563G>C | CA356169657 | WFS1 | n.278G>C c.108G>C (p.Glu36Asp) c.98G>C c.-18+7549G>C (n.-18+7549G>C) c.66+42G>C (n.66+42G>C) c.117G>C (p.Glu39Asp) | |
4 | g.6277563G= | CA1435762512 | WFS1 | n.278G= c.108G= (p.Glu36=) c.98G= c.-18+7549G= (n.-18+7549G=) c.66+42G= (n.66+42G=) c.117G= (p.Glu39=) | |
4 | g.6277563G>T | CA356169658 | WFS1 | n.278G>T c.108G>T (p.Glu36Asp) c.98G>T c.-18+7549G>T (n.-18+7549G>T) c.66+42G>T (n.66+42G>T) c.117G>T (p.Glu39Asp) | gnomAD v4 |
4 | g.6277564A>C | CA438210476 | WFS1 | n.279A>C c.109A>C (p.Arg37=) c.99A>C c.-18+7550A>C (n.-18+7550A>C) c.66+43A>C (n.66+43A>C) c.118A>C (p.Arg40=) | |
4 | g.6277564A>G | CA356169659 | WFS1 | n.279A>G c.109A>G (p.Arg37Gly) c.99A>G c.-18+7550A>G (n.-18+7550A>G) c.66+43A>G (n.66+43A>G) c.118A>G (p.Arg40Gly) | gnomAD v4 |
4 | g.6277564A>T | CA356169660 | WFS1 | n.279A>T c.109A>T (p.Arg37Trp) c.99A>T c.-18+7550A>T (n.-18+7550A>T) c.66+43A>T (n.66+43A>T) c.118A>T (p.Arg40Trp) | |
4 | g.6277565G>A | CA356169661 | WFS1 | n.280G>A c.110G>A (p.Arg37Lys) c.100G>A c.-18+7551G>A (n.-18+7551G>A) c.66+44G>A (n.66+44G>A) c.119G>A (p.Arg40Lys) | gnomAD v4 |
4 | g.6277565G>C | CA356169662 | WFS1 | n.280G>C c.110G>C (p.Arg37Thr) c.100G>C c.-18+7551G>C (n.-18+7551G>C) c.66+44G>C (n.66+44G>C) c.119G>C (p.Arg40Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277565G= | CA1435762515 | WFS1 | n.280G= c.110G= (p.Arg37=) c.100G= c.-18+7551G= (n.-18+7551G=) c.66+44G= (n.66+44G=) c.119G= (p.Arg40=) | |
4 | g.6277565G>T | CA356169663 | WFS1 | n.280G>T c.110G>T (p.Arg37Met) c.100G>T c.-18+7551G>T (n.-18+7551G>T) c.66+44G>T (n.66+44G>T) c.119G>T (p.Arg40Met) | gnomAD v4 |
4 | g.6277566G>A | CA438210478 | WFS1 | n.281G>A c.111G>A (p.Arg37=) c.101G>A c.-18+7552G>A (n.-18+7552G>A) c.66+45G>A (n.66+45G>A) c.120G>A (p.Arg40=) | |
4 | g.6277566G>C | CA356169664 | WFS1 | n.281G>C c.111G>C (p.Arg37Ser) c.101G>C c.-18+7552G>C (n.-18+7552G>C) c.66+45G>C (n.66+45G>C) c.120G>C (p.Arg40Ser) | |
4 | g.6277566G= | CA1435762517 | WFS1 | n.281G= c.111G= (p.Arg37=) c.101G= c.-18+7552G= (n.-18+7552G=) c.66+45G= (n.66+45G=) c.120G= (p.Arg40=) | |
4 | g.6277566G>T | CA356169665 | WFS1 | n.281G>T c.111G>T (p.Arg37Ser) c.101G>T c.-18+7552G>T (n.-18+7552G>T) c.66+45G>T (n.66+45G>T) c.120G>T (p.Arg40Ser) | dbSNP gnomAD v4 |
4 | g.6277567A>C | CA356169666 | WFS1 | n.282A>C c.112A>C (p.Ser38Arg) c.102A>C c.-18+7553A>C (n.-18+7553A>C) c.66+46A>C (n.66+46A>C) c.121A>C (p.Ser41Arg) | gnomAD v4 |
4 | g.6277567A>G | CA356169667 | WFS1 | n.282A>G c.112A>G (p.Ser38Gly) c.102A>G c.-18+7553A>G (n.-18+7553A>G) c.66+46A>G (n.66+46A>G) c.121A>G (p.Ser41Gly) | gnomAD v4 |
4 | g.6277567A>T | CA356169668 | WFS1 | n.282A>T c.112A>T (p.Ser38Cys) c.102A>T c.-18+7553A>T (n.-18+7553A>T) c.66+46A>T (n.66+46A>T) c.121A>T (p.Ser41Cys) | |
4 | g.6277568G>A | CA2838796 | WFS1 | n.283G>A c.113G>A (p.Ser38Asn) c.103G>A c.-18+7554G>A (n.-18+7554G>A) c.66+47G>A (n.66+47G>A) c.122G>A (p.Ser41Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277568G>C | CA356169669 | WFS1 | n.283G>C c.113G>C (p.Ser38Thr) c.103G>C c.-18+7554G>C (n.-18+7554G>C) c.66+47G>C (n.66+47G>C) c.122G>C (p.Ser41Thr) | |
4 | g.6277568G= | CA1435762523 | WFS1 | n.283G= c.113G= (p.Ser38=) c.103G= c.-18+7554G= (n.-18+7554G=) c.66+47G= (n.66+47G=) c.122G= (p.Ser41=) | |
4 | g.6277568G>T | CA2838797 | WFS1 | n.283G>T c.113G>T (p.Ser38Ile) c.103G>T c.-18+7554G>T (n.-18+7554G>T) c.66+47G>T (n.66+47G>T) c.122G>T (p.Ser41Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277569C>A | CA356169670 | WFS1 | n.284C>A c.114C>A (p.Ser38Arg) c.104C>A c.-18+7555C>A (n.-18+7555C>A) c.66+48C>A (n.66+48C>A) c.123C>A (p.Ser41Arg) | gnomAD v4 |
4 | g.6277569C= | CA1435762526 | WFS1 | n.284C= c.114C= (p.Ser38=) c.104C= c.-18+7555C= (n.-18+7555C=) c.66+48C= (n.66+48C=) c.123C= (p.Ser41=) | |
4 | g.6277569C>G | CA356169671 | WFS1 | n.284C>G c.114C>G (p.Ser38Arg) c.104C>G c.-18+7555C>G (n.-18+7555C>G) c.66+48C>G (n.66+48C>G) c.123C>G (p.Ser41Arg) | |
4 | g.6277569C>T | CA2838798 | WFS1 | n.284C>T c.114C>T (p.Ser38=) c.104C>T c.-18+7555C>T (n.-18+7555C>T) c.66+48C>T (n.66+48C>T) c.123C>T (p.Ser41=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277570G>A | CA10621472 | WFS1 | n.285G>A c.115G>A (p.Glu39Lys) c.105G>A c.-18+7556G>A (n.-18+7556G>A) c.66+49G>A (n.66+49G>A) c.124G>A (p.Glu42Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277570G>C | CA356169672 | WFS1 | n.285G>C c.115G>C (p.Glu39Gln) c.105G>C c.-18+7556G>C (n.-18+7556G>C) c.66+49G>C (n.66+49G>C) c.124G>C (p.Glu42Gln) | |
4 | g.6277570G= | CA1435762531 | WFS1 | n.285G= c.115G= (p.Glu39=) c.105G= c.-18+7556G= (n.-18+7556G=) c.66+49G= (n.66+49G=) c.124G= (p.Glu42=) | |
4 | g.6277570G>T | CA2838799 | WFS1 | n.285G>T c.115G>T (p.Glu39Ter) c.105G>T c.-18+7556G>T (n.-18+7556G>T) c.66+49G>T (n.66+49G>T) c.124G>T (p.Glu42Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277571A>C | CA356169673 | WFS1 | n.286A>C c.116A>C (p.Glu39Ala) c.106A>C c.-18+7557A>C (n.-18+7557A>C) c.66+50A>C (n.66+50A>C) c.125A>C (p.Glu42Ala) | |
4 | g.6277571A>G | CA356169674 | WFS1 | n.286A>G c.116A>G (p.Glu39Gly) c.106A>G c.-18+7557A>G (n.-18+7557A>G) c.66+50A>G (n.66+50A>G) c.125A>G (p.Glu42Gly) | gnomAD v4 |
4 | g.6277571A>T | CA356169675 | WFS1 | n.286A>T c.116A>T (p.Glu39Val) c.106A>T c.-18+7557A>T (n.-18+7557A>T) c.66+50A>T (n.66+50A>T) c.125A>T (p.Glu42Val) | |
4 | g.6277573del | CA2669824630 | WFS1 | n.288del c.118del (p.Arg40GlyfsTer?) c.108del c.-18+7559del (n.-18+7559del) c.66+52del (n.66+52del) c.127del (p.Arg43GlyfsTer?) | gnomAD v4 |
4 | g.6277572A>C | CA356169676 | WFS1 | n.287A>C c.117A>C (p.Glu39Asp) c.107A>C c.-18+7558A>C (n.-18+7558A>C) c.66+51A>C (n.66+51A>C) c.126A>C (p.Glu42Asp) | |
4 | g.6277572A>G | CA438210482 | WFS1 | n.287A>G c.117A>G (p.Glu39=) c.107A>G c.-18+7558A>G (n.-18+7558A>G) c.66+51A>G (n.66+51A>G) c.126A>G (p.Glu42=) | |
4 | g.6277572A>T | CA356169677 | WFS1 | n.287A>T c.117A>T (p.Glu39Asp) c.107A>T c.-18+7558A>T (n.-18+7558A>T) c.66+51A>T (n.66+51A>T) c.126A>T (p.Glu42Asp) | |
4 | g.6277573A= | CA1435762536 | WFS1 | n.288A= c.118A= (p.Arg40=) c.108A= c.-18+7559A= (n.-18+7559A=) c.66+52A= (n.66+52A=) c.127A= (p.Arg43=) | |
4 | g.6277573A>C | CA438210483 | WFS1 | n.288A>C c.118A>C (p.Arg40=) c.108A>C c.-18+7559A>C (n.-18+7559A>C) c.66+52A>C (n.66+52A>C) c.127A>C (p.Arg43=) | |
4 | g.6277573A>G | CA2838800 | WFS1 | n.288A>G c.118A>G (p.Arg40Gly) c.108A>G c.-18+7559A>G (n.-18+7559A>G) c.66+52A>G (n.66+52A>G) c.127A>G (p.Arg43Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277573A>T | CA356169678 | WFS1 | n.288A>T c.118A>T (p.Arg40Trp) c.108A>T c.-18+7559A>T (n.-18+7559A>T) c.66+52A>T (n.66+52A>T) c.127A>T (p.Arg43Trp) | gnomAD v4 |
4 | g.6277574G>A | CA356169681 | WFS1 | n.289G>A c.119G>A (p.Arg40Lys) c.109G>A c.-18+7560G>A (n.-18+7560G>A) c.66+53G>A (n.66+53G>A) c.128G>A (p.Arg43Lys) | gnomAD v4 |
4 | g.6277574G>C | CA356169680 | WFS1 | n.289G>C c.119G>C (p.Arg40Thr) c.109G>C c.-18+7560G>C (n.-18+7560G>C) c.66+53G>C (n.66+53G>C) c.128G>C (p.Arg43Thr) | gnomAD v4 |
4 | g.6277574G>T | CA356169679 | WFS1 | n.289G>T c.119G>T (p.Arg40Met) c.109G>T c.-18+7560G>T (n.-18+7560G>T) c.66+53G>T (n.66+53G>T) c.128G>T (p.Arg43Met) | gnomAD v4 |
4 | g.6277575G>A | CA438210487 | WFS1 | n.290G>A c.120G>A (p.Arg40=) c.110G>A c.-18+7561G>A (n.-18+7561G>A) c.66+54G>A (n.66+54G>A) c.129G>A (p.Arg43=) | gnomAD v4 |
4 | g.6277575G>C | CA356169682 | WFS1 | n.290G>C c.120G>C (p.Arg40Ser) c.110G>C c.-18+7561G>C (n.-18+7561G>C) c.66+54G>C (n.66+54G>C) c.129G>C (p.Arg43Ser) | |
4 | g.6277575G>T | CA356169683 | WFS1 | n.290G>T c.120G>T (p.Arg40Ser) c.110G>T c.-18+7561G>T (n.-18+7561G>T) c.66+54G>T (n.66+54G>T) c.129G>T (p.Arg43Ser) | gnomAD v4 |
4 | g.6277575_6277576delinsGC | CA1435762539 | WFS1 | n.290_291delinsGC c.120_121delinsGC (p.Arg40=) c.110_111delinsGC c.-18+7561_-18+7562delinsGC (n.-18+7561_-18+7562delinsGC) c.66+54_66+55delinsGC (n.66+54_66+55delinsGC) c.129_130delinsGC (p.Arg43=) | |
4 | g.6277576C>A | CA356169684 | WFS1 | n.291C>A c.121C>A (p.Pro41Thr) c.111C>A c.-18+7562C>A (n.-18+7562C>A) c.66+55C>A (n.66+55C>A) c.130C>A (p.Pro44Thr) | gnomAD v4 |
4 | g.6277576C>G | CA356169685 | WFS1 | n.291C>G c.121C>G (p.Pro41Ala) c.111C>G c.-18+7562C>G (n.-18+7562C>G) c.66+55C>G (n.66+55C>G) c.130C>G (p.Pro44Ala) | |
4 | g.6277576C>T | CA356169686 | WFS1 | n.291C>T c.121C>T (p.Pro41Ser) c.111C>T c.-18+7562C>T (n.-18+7562C>T) c.66+55C>T (n.66+55C>T) c.130C>T (p.Pro44Ser) | gnomAD v4 |
4 | g.6277579del | CA16618050 | WFS1 | n.294del c.124del (p.Arg42GlufsTer?) c.114del c.-18+7565del (n.-18+7565del) c.66+58del (n.66+58del) c.133del (p.Arg45GlufsTer?) | ClinVar dbSNP |
4 | g.6277577C>A | CA356169687 | WFS1 | n.292C>A c.122C>A (p.Pro41His) c.112C>A c.-18+7563C>A (n.-18+7563C>A) c.66+56C>A (n.66+56C>A) c.131C>A (p.Pro44His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277577C= | CA1435762544 | WFS1 | n.292C= c.122C= (p.Pro41=) c.112C= c.-18+7563C= (n.-18+7563C=) c.66+56C= (n.66+56C=) c.131C= (p.Pro44=) | |
4 | g.6277577C>G | CA356169688 | WFS1 | n.292C>G c.122C>G (p.Pro41Arg) c.112C>G c.-18+7563C>G (n.-18+7563C>G) c.66+56C>G (n.66+56C>G) c.131C>G (p.Pro44Arg) | |
4 | g.6277577C>T | CA356169689 | WFS1 | n.292C>T c.122C>T (p.Pro41Leu) c.112C>T c.-18+7563C>T (n.-18+7563C>T) c.66+56C>T (n.66+56C>T) c.131C>T (p.Pro44Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277578C>A | CA438210491 | WFS1 | n.293C>A c.123C>A (p.Pro41=) c.113C>A c.-18+7564C>A (n.-18+7564C>A) c.66+57C>A (n.66+57C>A) c.132C>A (p.Pro44=) | |
4 | g.6277578C= | CA1435762546 | WFS1 | n.293C= c.123C= (p.Pro41=) c.113C= c.-18+7564C= (n.-18+7564C=) c.66+57C= (n.66+57C=) c.132C= (p.Pro44=) | |
4 | g.6277578C>G | CA438210493 | WFS1 | n.293C>G c.123C>G (p.Pro41=) c.113C>G c.-18+7564C>G (n.-18+7564C>G) c.66+57C>G (n.66+57C>G) c.132C>G (p.Pro44=) | |
4 | g.6277578C>T | CA438210495 | WFS1 | n.293C>T c.123C>T (p.Pro41=) c.113C>T c.-18+7564C>T (n.-18+7564C>T) c.66+57C>T (n.66+57C>T) c.132C>T (p.Pro44=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
4 | g.6277579C>A | CA438210496 | WFS1 | n.294C>A c.124C>A (p.Arg42=) c.114C>A c.-18+7565C>A (n.-18+7565C>A) c.66+58C>A (n.66+58C>A) c.133C>A (p.Arg45=) | gnomAD v4 |
4 | g.6277579C= | CA1435762550 | WFS1 | n.294C= c.124C= (p.Arg42=) c.114C= c.-18+7565C= (n.-18+7565C=) c.66+58C= (n.66+58C=) c.133C= (p.Arg45=) | |
4 | g.6277579C>G | CA91787384 | WFS1 | n.294C>G c.124C>G (p.Arg42Gly) c.114C>G c.-18+7565C>G (n.-18+7565C>G) c.66+58C>G (n.66+58C>G) c.133C>G (p.Arg45Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.6277579C>T | CA274502 | WFS1 | n.294C>T c.124C>T (p.Arg42Ter) c.114C>T c.-18+7565C>T (n.-18+7565C>T) c.66+58C>T (n.66+58C>T) c.133C>T (p.Arg45Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277580G>A | CA2838801 | WFS1 | n.295G>A c.125G>A (p.Arg42Gln) c.115G>A c.-18+7566G>A (n.-18+7566G>A) c.66+59G>A (n.66+59G>A) c.134G>A (p.Arg45Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277580G>C | CA356169690 | WFS1 | n.295G>C c.125G>C (p.Arg42Pro) c.115G>C c.-18+7566G>C (n.-18+7566G>C) c.66+59G>C (n.66+59G>C) c.134G>C (p.Arg45Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277580G= | CA1435762559 | WFS1 | n.295G= c.125G= (p.Arg42=) c.115G= c.-18+7566G= (n.-18+7566G=) c.66+59G= (n.66+59G=) c.134G= (p.Arg45=) | |
4 | g.6277580G>T | CA356169691 | WFS1 | n.295G>T c.125G>T (p.Arg42Leu) c.115G>T c.-18+7566G>T (n.-18+7566G>T) c.66+59G>T (n.66+59G>T) c.134G>T (p.Arg45Leu) | ClinVar dbSNP gnomAD v4 |
4 | g.6277581A>C | CA438210497 | WFS1 | n.296A>C c.126A>C (p.Arg42=) c.116A>C c.-18+7567A>C (n.-18+7567A>C) c.66+60A>C (n.66+60A>C) c.135A>C (p.Arg45=) | |
4 | g.6277581A>G | CA438210498 | WFS1 | n.296A>G c.126A>G (p.Arg42=) c.116A>G c.-18+7567A>G (n.-18+7567A>G) c.66+60A>G (n.66+60A>G) c.135A>G (p.Arg45=) | |
4 | g.6277581A>T | CA438210499 | WFS1 | n.296A>T c.126A>T (p.Arg42=) c.116A>T c.-18+7567A>T (n.-18+7567A>T) c.66+60A>T (n.66+60A>T) c.135A>T (p.Arg45=) | |
4 | g.6277582G>A | CA356169692 | WFS1 | n.297G>A c.127G>A (p.Ala43Thr) c.117G>A c.-18+7568G>A (n.-18+7568G>A) c.66+61G>A (n.66+61G>A) c.136G>A (p.Ala46Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277582G>C | CA356169694 | WFS1 | n.297G>C c.127G>C (p.Ala43Pro) c.117G>C c.-18+7568G>C (n.-18+7568G>C) c.66+61G>C (n.66+61G>C) c.136G>C (p.Ala46Pro) | |
4 | g.6277582G= | CA1435762565 | WFS1 | n.297G= c.127G= (p.Ala43=) c.117G= c.-18+7568G= (n.-18+7568G=) c.66+61G= (n.66+61G=) c.136G= (p.Ala46=) | |
4 | g.6277582G>T | CA356169693 | WFS1 | n.297G>T c.127G>T (p.Ala43Ser) c.117G>T c.-18+7568G>T (n.-18+7568G>T) c.66+61G>T (n.66+61G>T) c.136G>T (p.Ala46Ser) | gnomAD v4 |
4 | g.6277583C>A | CA356169695 | WFS1 | n.298C>A c.128C>A (p.Ala43Glu) c.118C>A c.-18+7569C>A (n.-18+7569C>A) c.66+62C>A (n.66+62C>A) c.137C>A (p.Ala46Glu) | gnomAD v4 |
4 | g.6277583C= | CA1435762569 | WFS1 | n.298C= c.128C= (p.Ala43=) c.118C= c.-18+7569C= (n.-18+7569C=) c.66+62C= (n.66+62C=) c.137C= (p.Ala46=) | |
4 | g.6277583C>G | CA356169696 | WFS1 | n.298C>G c.128C>G (p.Ala43Gly) c.118C>G c.-18+7569C>G (n.-18+7569C>G) c.66+62C>G (n.66+62C>G) c.137C>G (p.Ala46Gly) | |
4 | g.6277583C>T | CA179627 | WFS1 | n.298C>T c.128C>T (p.Ala43Val) c.118C>T c.-18+7569C>T (n.-18+7569C>T) c.66+62C>T (n.66+62C>T) c.137C>T (p.Ala46Val) | ClinVar dbSNP gnomAD v4 |
4 | g.6277584A= | CA1435762576 | WFS1 | n.299A= c.129A= (p.Ala43=) c.119A= c.-18+7570A= (n.-18+7570A=) c.67-64A= (n.67-64A=) c.138A= (p.Ala46=) | |
4 | g.6277584A>C | CA438210501 | WFS1 | n.299A>C c.129A>C (p.Ala43=) c.119A>C c.-18+7570A>C (n.-18+7570A>C) c.67-64A>C (n.67-64A>C) c.138A>C (p.Ala46=) | |
4 | g.6277584A>G | CA438210502 | WFS1 | n.299A>G c.129A>G (p.Ala43=) c.119A>G c.-18+7570A>G (n.-18+7570A>G) c.67-64A>G (n.67-64A>G) c.138A>G (p.Ala46=) | |
4 | g.6277584A>T | CA2838802 | WFS1 | n.299A>T c.129A>T (p.Ala43=) c.119A>T c.-18+7570A>T (n.-18+7570A>T) c.67-64A>T (n.67-64A>T) c.138A>T (p.Ala46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277585C>A | CA91787399 | WFS1 | n.300C>A c.130C>A (p.Pro44Thr) c.120C>A c.-18+7571C>A (n.-18+7571C>A) c.67-63C>A (n.67-63C>A) c.139C>A (p.Pro47Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277585C= | CA1435762582 | WFS1 | n.300C= c.130C= (p.Pro44=) c.120C= c.-18+7571C= (n.-18+7571C=) c.67-63C= (n.67-63C=) c.139C= (p.Pro47=) | |
4 | g.6277585C>G | CA356169697 | WFS1 | n.300C>G c.130C>G (p.Pro44Ala) c.120C>G c.-18+7571C>G (n.-18+7571C>G) c.67-63C>G (n.67-63C>G) c.139C>G (p.Pro47Ala) | |
4 | g.6277585C>T | CA2838803 | WFS1 | n.300C>T c.130C>T (p.Pro44Ser) c.120C>T c.-18+7571C>T (n.-18+7571C>T) c.67-63C>T (n.67-63C>T) c.139C>T (p.Pro47Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.6277586C>A | CA356169698 | WFS1 | n.301C>A c.131C>A (p.Pro44His) c.121C>A c.-18+7572C>A (n.-18+7572C>A) c.67-62C>A (n.67-62C>A) c.140C>A (p.Pro47His) | gnomAD v4 |
4 | g.6277586C>G | CA356169699 | WFS1 | n.301C>G c.131C>G (p.Pro44Arg) c.121C>G c.-18+7572C>G (n.-18+7572C>G) c.67-62C>G (n.67-62C>G) c.140C>G (p.Pro47Arg) | |
4 | g.6277586C>T | CA356169700 | WFS1 | n.301C>T c.131C>T (p.Pro44Leu) c.121C>T c.-18+7572C>T (n.-18+7572C>T) c.67-62C>T (n.67-62C>T) c.140C>T (p.Pro47Leu) | gnomAD v4 |
4 | g.6277587C>A | CA2838804 | WFS1 | n.302C>A c.132C>A (p.Pro44=) c.122C>A c.-18+7573C>A (n.-18+7573C>A) c.67-61C>A (n.67-61C>A) c.141C>A (p.Pro47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277587C= | CA1435762591 | WFS1 | n.302C= c.132C= (p.Pro44=) c.122C= c.-18+7573C= (n.-18+7573C=) c.67-61C= (n.67-61C=) c.141C= (p.Pro47=) | |
4 | g.6277587C>G | CA438210507 | WFS1 | n.302C>G c.132C>G (p.Pro44=) c.122C>G c.-18+7573C>G (n.-18+7573C>G) c.67-61C>G (n.67-61C>G) c.141C>G (p.Pro47=) | |
4 | g.6277587C>T | CA2838805 | WFS1 | n.302C>T c.132C>T (p.Pro44=) c.122C>T c.-18+7573C>T (n.-18+7573C>T) c.67-61C>T (n.67-61C>T) c.141C>T (p.Pro47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277588G>A | CA91787424 | WFS1 | n.303G>A c.133G>A (p.Gly45Arg) c.123G>A c.-18+7574G>A (n.-18+7574G>A) c.67-60G>A (n.67-60G>A) c.142G>A (p.Gly48Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.6277588G>C | CA356169701 | WFS1 | n.303G>C c.133G>C (p.Gly45Arg) c.123G>C c.-18+7574G>C (n.-18+7574G>C) c.67-60G>C (n.67-60G>C) c.142G>C (p.Gly48Arg) | |
4 | g.6277588G= | CA1435762597 | WFS1 | n.303G= c.133G= (p.Gly45=) c.123G= c.-18+7574G= (n.-18+7574G=) c.67-60G= (n.67-60G=) c.142G= (p.Gly48=) | |
4 | g.6277588G>T | CA356169702 | WFS1 | n.303G>T c.133G>T (p.Gly45Ter) c.123G>T c.-18+7574G>T (n.-18+7574G>T) c.67-60G>T (n.67-60G>T) c.142G>T (p.Gly48Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.6277589del | CA2669824657 | WFS1 | n.304del c.134del (p.Gly45AspfsTer?) c.124del c.-18+7575del (n.-18+7575del) c.67-59del (n.67-59del) c.143del (p.Gly48AspfsTer?) | gnomAD v4 |