Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52037985_52037986dup | CA551343872 | SGCB | c.33+242_33+243dup (n.33+242_33+243dup) c.19+242_19+243dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52037987C>G | CA2761648121 | SGCB | c.33+240G>C (n.33+240G>C) c.19+240G>C | |
4 | g.52037990G>C | CA1457433982 | SGCB | c.33+237C>G (n.33+237C>G) c.19+237C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52037990G= | CA1457433981 | SGCB | c.33+237C= (n.33+237C=) c.19+237C= | |
4 | g.52037991G>A | CA1062453973 | SGCB | c.33+236C>T (n.33+236C>T) c.19+236C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52037991G= | CA1457433983 | SGCB | c.33+236C= (n.33+236C=) c.19+236C= | |
4 | g.52037991G>T | CA1457433984 | SGCB | c.33+236C>A (n.33+236C>A) c.19+236C>A | dbSNP |
4 | g.52037995A>G | CA2761648122 | SGCB | c.33+232T>C (n.33+232T>C) c.19+232T>C | |
4 | g.52038000G>A | CA796085852 | SGCB | c.33+227C>T (n.33+227C>T) c.19+227C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038000G= | CA1457433985 | SGCB | c.33+227C= (n.33+227C=) c.19+227C= | |
4 | g.52038002C= | CA1457433986 | SGCB | c.33+225G= (n.33+225G=) c.19+225G= | |
4 | g.52038002C>G | CA796085853 | SGCB | c.33+225G>C (n.33+225G>C) c.19+225G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038002_52038009delinsCCGGGCCG | CA1457433987 | SGCB | c.33+218_33+225delinsCGGCCCGG (n.33+218_33+225delinsCGGCCCGG) c.19+218_19+225delinsCGGCCCGG | |
4 | g.52038003_52038009del | CA1457433988 | SGCB | c.33+218_33+224del (n.33+218_33+224del) c.19+218_19+224del | dbSNP |
4 | g.52038004G>C | CA96791377 | SGCB | c.33+223C>G (n.33+223C>G) c.19+223C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038004G= | CA1457433989 | SGCB | c.33+223C= (n.33+223C=) c.19+223C= | |
4 | g.52038008C= | CA1457433990 | SGCB | c.33+219G= (n.33+219G=) c.19+219G= | |
4 | g.52038008C>T | CA1457433991 | SGCB | c.33+219G>A (n.33+219G>A) c.19+219G>A | dbSNP |
4 | g.52038009G>A | CA1457433993 | SGCB | c.33+218C>T (n.33+218C>T) c.19+218C>T | dbSNP |
4 | g.52038009G>C | CA1062453981 | SGCB | c.33+218C>G (n.33+218C>G) c.19+218C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038009G= | CA1457433992 | SGCB | c.33+218C= (n.33+218C=) c.19+218C= | |
4 | g.52038010A= | CA1457433994 | SGCB | c.33+217T= (n.33+217T=) c.19+217T= | |
4 | g.52038010A>G | CA1457433995 | SGCB | c.33+217T>C (n.33+217T>C) c.19+217T>C | dbSNP |
4 | g.52038011G>A | CA796085856 | SGCB | c.33+216C>T (n.33+216C>T) c.19+216C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038011G= | CA1457433996 | SGCB | c.33+216C= (n.33+216C=) c.19+216C= | |
4 | g.52038012C= | CA1457433997 | SGCB | c.33+215G= (n.33+215G=) c.19+215G= | |
4 | g.52038012C>G | CA1062454004 | SGCB | c.33+215G>C (n.33+215G>C) c.19+215G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038012C>T | CA1062454003 | SGCB | c.33+215G>A (n.33+215G>A) c.19+215G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038013C= | CA1457433998 | SGCB | c.33+214G= (n.33+214G=) c.19+214G= | |
4 | g.52038013C>G | CA1062454007 | SGCB | c.33+214G>C (n.33+214G>C) c.19+214G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038015G>A | CA1457434000 | SGCB | c.33+212C>T (n.33+212C>T) c.19+212C>T | dbSNP |
4 | g.52038015G= | CA1457433999 | SGCB | c.33+212C= (n.33+212C=) c.19+212C= | |
4 | g.52038021G>A | CA96791385 | SGCB | c.33+206C>T (n.33+206C>T) c.19+206C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038021G= | CA1457434001 | SGCB | c.33+206C= (n.33+206C=) c.19+206C= | |
4 | g.52038021G>T | CA2705801377 | SGCB | c.33+206C>A (n.33+206C>A) c.19+206C>A | dbSNP |
4 | g.52038022C= | CA1457434002 | SGCB | c.33+205G= (n.33+205G=) c.19+205G= | |
4 | g.52038022C>G | CA1457434003 | SGCB | c.33+205G>C (n.33+205G>C) c.19+205G>C | dbSNP |
4 | g.52038022C>T | CA796085865 | SGCB | c.33+205G>A (n.33+205G>A) c.19+205G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038023C= | CA1457434004 | SGCB | c.33+204G= (n.33+204G=) c.19+204G= | |
4 | g.52038023C>T | CA796085870 | SGCB | c.33+204G>A (n.33+204G>A) c.19+204G>A | dbSNP |
4 | g.52038026T>A | CA1062454015 | SGCB | c.33+201A>T (n.33+201A>T) c.19+201A>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038026T= | CA1457434005 | SGCB | c.33+201A= (n.33+201A=) c.19+201A= | |
4 | g.52038027G>A | CA796085874 | SGCB | c.33+200C>T (n.33+200C>T) c.19+200C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038027G= | CA1457434006 | SGCB | c.33+200C= (n.33+200C=) c.19+200C= | |
4 | g.52038028G>A | CA1457434008 | SGCB | c.33+199C>T (n.33+199C>T) c.19+199C>T | dbSNP |
4 | g.52038028G>C | CA96791397 | SGCB | c.33+199C>G (n.33+199C>G) c.19+199C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038028G= | CA1457434007 | SGCB | c.33+199C= (n.33+199C=) c.19+199C= | |
4 | g.52038029C= | CA1457434009 | SGCB | c.33+198G= (n.33+198G=) c.19+198G= | |
4 | g.52038029C>T | CA1457434010 | SGCB | c.33+198G>A (n.33+198G>A) c.19+198G>A | dbSNP |
4 | g.52038030T>G | CA796085879 | SGCB | c.33+197A>C (n.33+197A>C) c.19+197A>C | dbSNP |
4 | g.52038030T= | CA1457434011 | SGCB | c.33+197A= (n.33+197A=) c.19+197A= | |
4 | g.52038033T>C | CA96791400 | SGCB | c.33+194A>G (n.33+194A>G) c.19+194A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038033T= | CA1457434012 | SGCB | c.33+194A= (n.33+194A=) c.19+194A= | |
4 | g.52038034G>A | CA796085883 | SGCB | c.33+193C>T (n.33+193C>T) c.19+193C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038034G= | CA1457434013 | SGCB | c.33+193C= (n.33+193C=) c.19+193C= | |
4 | g.52038039C= | CA1457434014 | SGCB | c.33+188G= (n.33+188G=) c.19+188G= | |
4 | g.52038039C>T | CA1062454035 | SGCB | c.33+188G>A (n.33+188G>A) c.19+188G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038040T>C | CA1457434016 | SGCB | c.33+187A>G (n.33+187A>G) c.19+187A>G | dbSNP |
4 | g.52038040T>G | CA2761648123 | SGCB | c.33+187A>C (n.33+187A>C) c.19+187A>C | |
4 | g.52038040T= | CA1457434015 | SGCB | c.33+187A= (n.33+187A=) c.19+187A= | |
4 | g.52038041A= | CA1457434017 | SGCB | c.33+186T= (n.33+186T=) c.19+186T= | |
4 | g.52038041A>G | CA1457434018 | SGCB | c.33+186T>C (n.33+186T>C) c.19+186T>C | dbSNP |
4 | g.52038042G>C | CA1457434020 | SGCB | c.33+185C>G (n.33+185C>G) c.19+185C>G | dbSNP |
4 | g.52038042G= | CA1457434019 | SGCB | c.33+185C= (n.33+185C=) c.19+185C= | |
4 | g.52038043C= | CA1457434021 | SGCB | c.33+184G= (n.33+184G=) c.19+184G= | |
4 | g.52038043C>T | CA551343873 | SGCB | c.33+184G>A (n.33+184G>A) c.19+184G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038045T>G | CA1457434023 | SGCB | c.33+182A>C (n.33+182A>C) c.19+182A>C | dbSNP |
4 | g.52038045T= | CA1457434022 | SGCB | c.33+182A= (n.33+182A=) c.19+182A= | |
4 | g.52038046G>C | CA1457434025 | SGCB | c.33+181C>G (n.33+181C>G) c.19+181C>G | dbSNP |
4 | g.52038046G= | CA1457434024 | SGCB | c.33+181C= (n.33+181C=) c.19+181C= | |
4 | g.52038049C>A | CA1457434027 | SGCB | c.33+178G>T (n.33+178G>T) c.19+178G>T | dbSNP |
4 | g.52038049C= | CA1457434026 | SGCB | c.33+178G= (n.33+178G=) c.19+178G= | |
4 | g.52038049C>G | CA1457434028 | SGCB | c.33+178G>C (n.33+178G>C) c.19+178G>C | dbSNP |
4 | g.52038051A= | CA1457434030 | SGCB | c.33+176T= (n.33+176T=) c.19+176T= | |
4 | g.52038051A>T | CA1457434029 | SGCB | c.33+176T>A (n.33+176T>A) c.19+176T>A | dbSNP |
4 | g.52038052G= | CA1457434031 | SGCB | c.33+175C= (n.33+175C=) c.19+175C= | |
4 | g.52038052G>T | CA1457434032 | SGCB | c.33+175C>A (n.33+175C>A) c.19+175C>A | dbSNP |
4 | g.52038053C= | CA1457434033 | SGCB | c.33+174G= (n.33+174G=) c.19+174G= | |
4 | g.52038053C>T | CA1457434034 | SGCB | c.33+174G>A (n.33+174G>A) c.19+174G>A | dbSNP |
4 | g.52038056C>A | CA796085886 | SGCB | c.33+171G>T (n.33+171G>T) c.19+171G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038056C= | CA1457434035 | SGCB | c.33+171G= (n.33+171G=) c.19+171G= | |
4 | g.52038056C>T | CA1062454041 | SGCB | c.33+171G>A (n.33+171G>A) c.19+171G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038058T>G | CA96791402 | SGCB | c.33+169A>C (n.33+169A>C) c.19+169A>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038058T= | CA1457434036 | SGCB | c.33+169A= (n.33+169A=) c.19+169A= | |
4 | g.52038059C= | CA1457434037 | SGCB | c.33+168G= (n.33+168G=) c.19+168G= | |
4 | g.52038059C>G | CA1457434038 | SGCB | c.33+168G>C (n.33+168G>C) c.19+168G>C | dbSNP |
4 | g.52038060G>A | CA96791405 | SGCB | c.33+167C>T (n.33+167C>T) c.19+167C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038060G= | CA1457434039 | SGCB | c.33+167C= (n.33+167C=) c.19+167C= | |
4 | g.52038061G>A | CA551343874 | SGCB | c.33+166C>T (n.33+166C>T) c.19+166C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038061G= | CA1457434040 | SGCB | c.33+166C= (n.33+166C=) c.19+166C= | |
4 | g.52038061G>T | CA2705820891 | SGCB | c.33+166C>A (n.33+166C>A) c.19+166C>A | dbSNP |
4 | g.52038062C>G | CA2705882311 | SGCB | c.33+165G>C (n.33+165G>C) c.19+165G>C | dbSNP |
4 | g.52038063G>C | CA1457434042 | SGCB | c.33+164C>G (n.33+164C>G) c.19+164C>G | dbSNP |
4 | g.52038063G= | CA1457434041 | SGCB | c.33+164C= (n.33+164C=) c.19+164C= | |
4 | g.52038064G>A | CA1457434044 | SGCB | c.33+163C>T (n.33+163C>T) c.19+163C>T | dbSNP |
4 | g.52038064G= | CA1457434043 | SGCB | c.33+163C= (n.33+163C=) c.19+163C= | |
4 | g.52038066G>C | CA796085892 | SGCB | c.33+161C>G (n.33+161C>G) c.19+161C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038066G= | CA1457434045 | SGCB | c.33+161C= (n.33+161C=) c.19+161C= | |
4 | g.52038067C>A | CA1457434046 | SGCB | c.33+160G>T (n.33+160G>T) c.19+160G>T | dbSNP |
4 | g.52038067C= | CA1457434047 | SGCB | c.33+160G= (n.33+160G=) c.19+160G= | |
4 | g.52038068A>C | CA1062454060 | SGCB | c.33+159T>G (n.33+159T>G) c.19+159T>G | gnomAD v3 gnomAD v4 |
4 | g.52038070A>C | CA2761648124 | SGCB | c.33+157T>G (n.33+157T>G) c.19+157T>G | |
4 | g.52038071G>A | CA1062454061 | SGCB | c.33+156C>T (n.33+156C>T) c.19+156C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038071G= | CA1457434048 | SGCB | c.33+156C= (n.33+156C=) c.19+156C= | |
4 | g.52038072C>A | CA1457434050 | SGCB | c.33+155G>T (n.33+155G>T) c.19+155G>T | dbSNP |
4 | g.52038072C= | CA1457434049 | SGCB | c.33+155G= (n.33+155G=) c.19+155G= | |
4 | g.52038073T>C | CA1062454070 | SGCB | c.33+154A>G (n.33+154A>G) c.19+154A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038073T>G | CA2761648125 | SGCB | c.33+154A>C (n.33+154A>C) c.19+154A>C | |
4 | g.52038073T= | CA1457434051 | SGCB | c.33+154A= (n.33+154A=) c.19+154A= | |
4 | g.52038074C>T | CA2705882333 | SGCB | c.33+153G>A (n.33+153G>A) c.19+153G>A | dbSNP |
4 | g.52038075dup | CA439274981 | SGCB | c.33+153dup (n.33+153dup) c.19+153dup | |
4 | g.52038075C= | CA1457434052 | SGCB | c.33+152G= (n.33+152G=) c.19+152G= | |
4 | g.52038075C>T | CA96791414 | SGCB | c.33+152G>A (n.33+152G>A) c.19+152G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038075_52038076insGGC | CA2761648126 | SGCB | c.33+152_33+153insCCG (n.33+152_33+153insCCG) c.19+152_19+153insCCG | |
4 | g.52038075_52038076insGG | CA2761648127 | SGCB | c.33+151_33+152insCC (n.33+151_33+152insCC) c.19+151_19+152insCC | |
4 | g.52038076T>A | CA2670614246 | SGCB | c.33+151A>T (n.33+151A>T) c.19+151A>T | gnomAD v4 |
4 | g.52038076T>C | CA96791433 | SGCB | c.33+151A>G (n.33+151A>G) c.19+151A>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076T>G | CA2520210233 | SGCB | c.33+151A>C (n.33+151A>C) c.19+151A>C | gnomAD v4 |
4 | g.52038076T= | CA1457434053 | SGCB | c.33+151A= (n.33+151A=) c.19+151A= | |
4 | g.52038076dup | CA1062454083 | SGCB | c.33+151dup (n.33+151dup) c.19+151dup | gnomAD v3 gnomAD v4 |
4 | g.52038076_52038086delinsTCCCGCCCCGC | CA1457434054 | SGCB | c.33+141_33+151delinsGCGGGGCGGGA (n.33+141_33+151delinsGCGGGGCGGGA) c.19+141_19+151delinsGCGGGGCGGGA | |
4 | g.52038076_52038077insA | CA1062454139 | SGCB | c.33+150_33+151insT (n.33+150_33+151insT) c.19+150_19+151insT | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insG | CA1062454129 | SGCB | c.33+150_33+151insC (n.33+150_33+151insC) c.19+150_19+151insC | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insAA | CA2670614259 | SGCB | c.33+150_33+151insTT (n.33+150_33+151insTT) c.19+150_19+151insTT | gnomAD v4 |
4 | g.52038076_52038077insAC | CA1062454142 | SGCB | c.33+150_33+151insGT (n.33+150_33+151insGT) c.19+150_19+151insGT | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insAG | CA2670614261 | SGCB | c.33+150_33+151insCT (n.33+150_33+151insCT) c.19+150_19+151insCT | gnomAD v4 |
4 | g.52038076_52038077insGA | CA2670614263 | SGCB | c.33+150_33+151insTC (n.33+150_33+151insTC) c.19+150_19+151insTC | gnomAD v4 |
4 | g.52038076_52038077insGC | CA1062454133 | SGCB | c.33+150_33+151insGC (n.33+150_33+151insGC) c.19+150_19+151insGC | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insGG | CA2670614247 | SGCB | c.33+150_33+151insCC (n.33+150_33+151insCC) c.19+150_19+151insCC | gnomAD v4 |
4 | g.52038076_52038077insTC | CA1062454116 | SGCB | c.33+150_33+151insGA (n.33+150_33+151insGA) c.19+150_19+151insGA | gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insTG | CA2670614251 | SGCB | c.33+150_33+151insCA (n.33+150_33+151insCA) c.19+150_19+151insCA | gnomAD v4 |
4 | g.52038076_52038077insACC | CA2536860891 | SGCB | c.33+150_33+151insGGT (n.33+150_33+151insGGT) c.19+150_19+151insGGT | gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insGAC | CA2670614264 | SGCB | c.33+150_33+151insGTC (n.33+150_33+151insGTC) c.19+150_19+151insGTC | gnomAD v4 |
4 | g.52038076_52038077insGCC | CA1062454125 | SGCB | c.33+150_33+151insGGC (n.33+150_33+151insGGC) c.19+150_19+151insGGC | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insGGC | CA2670614248 | SGCB | c.33+150_33+151insGCC (n.33+150_33+151insGCC) c.19+150_19+151insGCC | gnomAD v4 |
4 | g.52038076_52038077insTCC | CA2597764735 | SGCB | c.33+150_33+151insGGA (n.33+150_33+151insGGA) c.19+150_19+151insGGA | gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insTGC | CA2670614252 | SGCB | c.33+150_33+151insGCA (n.33+150_33+151insGCA) c.19+150_19+151insGCA | gnomAD v4 |
4 | g.52038076_52038077insGGCC | CA2670614249 | SGCB | c.33+150_33+151insGGCC (n.33+150_33+151insGGCC) c.19+150_19+151insGGCC | gnomAD v4 |
4 | g.52038076_52038077insTGCC | CA2670614253 | SGCB | c.33+150_33+151insGGCA (n.33+150_33+151insGGCA) c.19+150_19+151insGGCA | gnomAD v4 |
4 | g.52038076_52038077insACCCC | CA2670614260 | SGCB | c.33+150_33+151insGGGGT (n.33+150_33+151insGGGGT) c.19+150_19+151insGGGGT | gnomAD v4 |
4 | g.52038076_52038077insGCCCC | CA1062454119 | SGCB | c.33+150_33+151insGGGGC (n.33+150_33+151insGGGGC) c.19+150_19+151insGGGGC | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038076_52038077insTCCCC | CA2670614250 | SGCB | c.33+150_33+151insGGGGA (n.33+150_33+151insGGGGA) c.19+150_19+151insGGGGA | gnomAD v4 |
4 | g.52038076_52038077insGCCCCC | CA2670614265 | SGCB | c.33+150_33+151insGGGGGC (n.33+150_33+151insGGGGGC) c.19+150_19+151insGGGGGC | gnomAD v4 |
4 | g.52038076_52038077insGCCCCCC | CA2670614266 | SGCB | c.33+150_33+151insGGGGGGC (n.33+150_33+151insGGGGGGC) c.19+150_19+151insGGGGGGC | gnomAD v4 |
4 | g.52038076_52038077insGCCCCCCC | CA2670614267 | SGCB | c.33+150_33+151insGGGGGGGC (n.33+150_33+151insGGGGGGGC) c.19+150_19+151insGGGGGGGC | gnomAD v4 |
4 | g.52038076_52038077insGCCCCCCCCC | CA2670614268 | SGCB | c.33+150_33+151insGGGGGGGGGC (n.33+150_33+151insGGGGGGGGGC) c.19+150_19+151insGGGGGGGGGC | gnomAD v4 |
4 | g.52038076_52038077insGCCCCCCCCCCCCCC | CA2670614257 | SGCB | c.33+150_33+151insGGGGGGGGGGGGGGC (n.33+150_33+151insGGGGGGGGGGGGGGC) c.19+150_19+151insGGGGGGGGGGGGGGC | gnomAD v4 |
4 | g.52038076_52038077insGCCCCCCCCCCCCCCC | CA2670614258 | SGCB | c.33+150_33+151insGGGGGGGGGGGGGGGC (n.33+150_33+151insGGGGGGGGGGGGGGGC) c.19+150_19+151insGGGGGGGGGGGGGGGC | gnomAD v4 |
4 | g.52038077C>A | CA1062454112 | SGCB | c.33+150G>T (n.33+150G>T) c.19+150G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038077C= | CA1457434055 | SGCB | c.33+150G= (n.33+150G=) c.19+150G= | |
4 | g.52038077C>G | CA796085904 | SGCB | c.33+150G>C (n.33+150G>C) c.19+150G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038077C>T | CA1062454107 | SGCB | c.33+150G>A (n.33+150G>A) c.19+150G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038077_52038079del | CA1062454115 | SGCB | c.33+148_33+150del (n.33+148_33+150del) c.19+148_19+150del | gnomAD v3 gnomAD v4 |
4 | g.52038079dup | CA1062454143 | SGCB | c.33+150dup (n.33+150dup) c.19+150dup | gnomAD v3 gnomAD v4 |
4 | g.52038078_52038079dup | CA2670614262 | SGCB | c.33+149_33+150dup (n.33+149_33+150dup) c.19+149_19+150dup | gnomAD v4 |
4 | g.52038079del | CA2670614254 | SGCB | c.33+150del (n.33+150del) c.19+150del | gnomAD v4 |
4 | g.52038078_52038079del | CA2670614255 | SGCB | c.33+149_33+150del (n.33+149_33+150del) c.19+149_19+150del | gnomAD v4 |
4 | g.52038080_52038083del | CA2670614256 | SGCB | c.33+147_33+150del (n.33+147_33+150del) c.19+147_19+150del | gnomAD v4 |
4 | g.52038091_52038095dup | CA551343875 | SGCB | c.33+146_33+150dup (n.33+146_33+150dup) c.19+146_19+150dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038086_52038095dup | CA551343876 | SGCB | c.33+141_33+150dup (n.33+141_33+150dup) c.19+141_19+150dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038091_52038095del | CA96791443 | SGCB | c.33+146_33+150del (n.33+146_33+150del) c.19+146_19+150del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038086_52038095del | CA796085899 | SGCB | c.33+141_33+150del (n.33+141_33+150del) c.19+141_19+150del | dbSNP gnomAD v4 |
4 | g.52038078C>A | CA2670614269 | SGCB | c.33+149G>T (n.33+149G>T) c.19+149G>T | gnomAD v4 |
4 | g.52038078C>T | CA2670614270 | SGCB | c.33+149G>A (n.33+149G>A) c.19+149G>A | gnomAD v4 |
4 | g.52038079C>A | CA2670614274 | SGCB | c.33+148G>T (n.33+148G>T) c.19+148G>T | gnomAD v4 |
4 | g.52038079C>G | CA2670614272 | SGCB | c.33+148G>C (n.33+148G>C) c.19+148G>C | gnomAD v4 |
4 | g.52038079C>T | CA2670614271 | SGCB | c.33+148G>A (n.33+148G>A) c.19+148G>A | gnomAD v4 |
4 | g.52038079_52038080delinsCG | CA1457434056 | SGCB | c.33+147_33+148delinsCG (n.33+147_33+148delinsCG) c.19+147_19+148delinsCG | |
4 | g.52038080_52038081del | CA2670614273 | SGCB | c.33+147_33+148del (n.33+147_33+148del) c.19+147_19+148del | gnomAD v4 |
4 | g.52038080del | CA551343877 | SGCB | c.33+147del (n.33+147del) c.19+147del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038080G>A | CA2670614275 | SGCB | c.33+147C>T (n.33+147C>T) c.19+147C>T | gnomAD v4 |
4 | g.52038080G>C | CA96791445 | SGCB | c.33+147C>G (n.33+147C>G) c.19+147C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038080G= | CA1457434057 | SGCB | c.33+147C= (n.33+147C=) c.19+147C= | |
4 | g.52038080G>T | CA2670614276 | SGCB | c.33+147C>A (n.33+147C>A) c.19+147C>A | gnomAD v4 |
4 | g.52038081C>A | CA2670614279 | SGCB | c.33+146G>T (n.33+146G>T) c.19+146G>T | gnomAD v4 |
4 | g.52038081C= | CA1457434058 | SGCB | c.33+146G= (n.33+146G=) c.19+146G= | |
4 | g.52038081C>T | CA1457434059 | SGCB | c.33+146G>A (n.33+146G>A) c.19+146G>A | dbSNP gnomAD v4 |
4 | g.52038084dup | CA2670614277 | SGCB | c.33+146dup (n.33+146dup) c.19+146dup | gnomAD v4 |
4 | g.52038082_52038084del | CA2670614278 | SGCB | c.33+144_33+146del (n.33+144_33+146del) c.19+144_19+146del | gnomAD v4 |
4 | g.52038081_52038082insG | CA2670614280 | SGCB | c.33+145_33+146insC (n.33+145_33+146insC) c.19+145_19+146insC | gnomAD v4 |
4 | g.52038082C>A | CA2670614281 | SGCB | c.33+145G>T (n.33+145G>T) c.19+145G>T | gnomAD v4 |
4 | g.52038082C= | CA1457434060 | SGCB | c.33+145G= (n.33+145G=) c.19+145G= | |
4 | g.52038082C>T | CA796085922 | SGCB | c.33+145G>A (n.33+145G>A) c.19+145G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038082_52038083insG | CA2670614284 | SGCB | c.33+144_33+145insC (n.33+144_33+145insC) c.19+144_19+145insC | gnomAD v4 |
4 | g.52038083C>A | CA2670614283 | SGCB | c.33+144G>T (n.33+144G>T) c.19+144G>T | gnomAD v4 |
4 | g.52038083C= | CA1457434061 | SGCB | c.33+144G= (n.33+144G=) c.19+144G= | |
4 | g.52038083C>T | CA796085929 | SGCB | c.33+144G>A (n.33+144G>A) c.19+144G>A | dbSNP gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCACC | CA2670614282 | SGCB | c.33+144_33+145insTGGGGGGGGGGGGGG (n.33+144_33+145insTGGGGGGGGGGGGGG) c.19+144_19+145insTGGGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084C>A | CA2670614286 | SGCB | c.33+143G>T (n.33+143G>T) c.19+143G>T | gnomAD v4 |
4 | g.52038084C>T | CA2670614287 | SGCB | c.33+143G>A (n.33+143G>A) c.19+143G>A | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCAAC | CA2670614285 | SGCB | c.33+143_33+144insTTGGGGGGGGGGGGG (n.33+143_33+144insTTGGGGGGGGGGGGG) c.19+143_19+144insTTGGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085delinsCG | CA1457434062 | SGCB | c.33+142_33+143delinsCG (n.33+142_33+143delinsCG) c.19+142_19+143delinsCG | |
4 | g.52038084_52038099delinsCGCCCCGCCCCGATCG | CA1457434063 | SGCB | c.33+128_33+143delinsCGATCGGGGCGGGGCG (n.33+128_33+143delinsCGATCGGGGCGGGGCG) c.19+128_19+143delinsCGATCGGGGCGGGGCG | |
4 | g.52038084_52038085insCCCCCCCCCCCAAA | CA2670614293 | SGCB | c.33+142_33+143insTTTGGGGGGGGGGG (n.33+142_33+143insTTTGGGGGGGGGGG) c.19+142_19+143insTTTGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCACA | CA2670614289 | SGCB | c.33+142_33+143insTGTGGGGGGGGGGG (n.33+142_33+143insTGTGGGGGGGGGGG) c.19+142_19+143insTGTGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCAA | CA2670614294 | SGCB | c.33+142_33+143insTTGGGGGGGGGGGG (n.33+142_33+143insTTGGGGGGGGGGGG) c.19+142_19+143insTTGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCAAA | CA2670614295 | SGCB | c.33+142_33+143insTTTGGGGGGGGGGGG (n.33+142_33+143insTTTGGGGGGGGGGGG) c.19+142_19+143insTTTGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCAAG | CA1062454164 | SGCB | c.33+142_33+143insCTTGGGGGGGGGGGG (n.33+142_33+143insCTTGGGGGGGGGGGG) c.19+142_19+143insCTTGGGGGGGGGGGG | gnomAD v3 gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCACA | CA2670614292 | SGCB | c.33+142_33+143insTGTGGGGGGGGGGGG (n.33+142_33+143insTGTGGGGGGGGGGGG) c.19+142_19+143insTGTGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038084_52038085insCCCCCCCCCCCCAAGG | CA2670614291 | SGCB | c.33+142_33+143insCCTTGGGGGGGGGGGG (n.33+142_33+143insCCTTGGGGGGGGGGGG) c.19+142_19+143insCCTTGGGGGGGGGGGG | gnomAD v4 |
4 | g.52038085del | CA551343878 | SGCB | c.33+142del (n.33+142del) c.19+142del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038085G>A | CA2670614290 | SGCB | c.33+142C>T (n.33+142C>T) c.19+142C>T | gnomAD v4 |
4 | g.52038085G>C | CA96791455 | SGCB | c.33+142C>G (n.33+142C>G) c.19+142C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038085G= | CA1457434064 | SGCB | c.33+142C= (n.33+142C=) c.19+142C= | |
4 | g.52038085G>T | CA2670614288 | SGCB | c.33+142C>A (n.33+142C>A) c.19+142C>A | gnomAD v4 |
4 | g.52038093_52038107dup | CA796085939 | SGCB | c.33+128_33+142dup (n.33+128_33+142dup) c.19+128_19+142dup | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038093_52038107del | CA1062454168 | SGCB | c.33+128_33+142del (n.33+128_33+142del) c.19+128_19+142del | dbSNP |