Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
4 | g.52038086C>G | CA2670614296 | SGCB | c.33+141G>C (n.33+141G>C) c.19+141G>C | gnomAD v4 |
4 | g.52038086C>T | CA2670614297 | SGCB | c.33+141G>A (n.33+141G>A) c.19+141G>A | gnomAD v4 |
4 | g.52038086_52038087insG | CA2670614298 | SGCB | c.33+140_33+141insC (n.33+140_33+141insC) c.19+140_19+141insC | gnomAD v4 |
4 | g.52038087C>A | CA2670614299 | SGCB | c.33+140G>T (n.33+140G>T) c.19+140G>T | gnomAD v4 |
4 | g.52038087C= | CA1457434065 | SGCB | c.33+140G= (n.33+140G=) c.19+140G= | |
4 | g.52038087C>T | CA2670614300 | SGCB | c.33+140G>A (n.33+140G>A) c.19+140G>A | gnomAD v4 |
4 | g.52038087_52038088insG | CA2670614301 | SGCB | c.33+139_33+140insC (n.33+139_33+140insC) c.19+139_19+140insC | gnomAD v4 |
4 | g.52038087_52038088insGCGA | CA2670614302 | SGCB | c.33+139_33+140insTCGC (n.33+139_33+140insTCGC) c.19+139_19+140insTCGC | gnomAD v4 |
4 | g.52038087_52038088insGAGGATG | CA917194987 | SGCB | c.33+139_33+140insCATCCTC (n.33+139_33+140insCATCCTC) c.19+139_19+140insCATCCTC | dbSNP |
4 | g.52038088C>A | CA2670614303 | SGCB | c.33+139G>T (n.33+139G>T) c.19+139G>T | gnomAD v4 |
4 | g.52038088C>G | CA2670614305 | SGCB | c.33+139G>C (n.33+139G>C) c.19+139G>C | gnomAD v4 |
4 | g.52038088C>T | CA2670614304 | SGCB | c.33+139G>A (n.33+139G>A) c.19+139G>A | gnomAD v4 |
4 | g.52038089C= | CA1457434066 | SGCB | c.33+138G= (n.33+138G=) c.19+138G= | |
4 | g.52038089C>T | CA1457434067 | SGCB | c.33+138G>A (n.33+138G>A) c.19+138G>A | dbSNP gnomAD v4 |
4 | g.52038089_52038090insCCCCCCCAC | CA2670614309 | SGCB | c.33+138_33+139insTGGGGGGGG (n.33+138_33+139insTGGGGGGGG) c.19+138_19+139insTGGGGGGGG | gnomAD v4 |
4 | g.52038089_52038090insCCCCCCCAAC | CA2670614308 | SGCB | c.33+138_33+139insTTGGGGGGGG (n.33+138_33+139insTTGGGGGGGG) c.19+138_19+139insTTGGGGGGGG | gnomAD v4 |
4 | g.52038089_52038090insCCCCCCCAGC | CA2670614307 | SGCB | c.33+138_33+139insCTGGGGGGGG (n.33+138_33+139insCTGGGGGGGG) c.19+138_19+139insCTGGGGGGGG | gnomAD v4 |
4 | g.52038089_52038090insCCCCCCCCAC | CA2670614306 | SGCB | c.33+138_33+139insTGGGGGGGGG (n.33+138_33+139insTGGGGGGGGG) c.19+138_19+139insTGGGGGGGGG | gnomAD v4 |
4 | g.52038089_52038090insCCCCCCAAA | CA2670614310 | SGCB | c.33+137_33+138insTTTGGGGGG (n.33+137_33+138insTTTGGGGGG) c.19+137_19+138insTTTGGGGGG | gnomAD v4 |
4 | g.52038089_52038090insCCCCCCCAAA | CA2670614311 | SGCB | c.33+137_33+138insTTTGGGGGGG (n.33+137_33+138insTTTGGGGGGG) c.19+137_19+138insTTTGGGGGGG | gnomAD v4 |
4 | g.52038090del | CA1062454180 | SGCB | c.33+137del (n.33+137del) c.19+137del | gnomAD v3 gnomAD v4 |
4 | g.52038090G>A | CA2670614313 | SGCB | c.33+137C>T (n.33+137C>T) c.19+137C>T | dbSNP gnomAD v4 |
4 | g.52038090G>C | CA96791457 | SGCB | c.33+137C>G (n.33+137C>G) c.19+137C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038090G= | CA1457434068 | SGCB | c.33+137C= (n.33+137C=) c.19+137C= | |
4 | g.52038090G>T | CA2670614314 | SGCB | c.33+137C>A (n.33+137C>A) c.19+137C>A | gnomAD v4 |
4 | g.52038090_52038100del | CA2670614312 | SGCB | c.33+127_33+137del (n.33+127_33+137del) c.19+127_19+137del | gnomAD v4 |
4 | g.52038091_52038092insA | CA2670614316 | SGCB | c.33+135_33+136insT (n.33+135_33+136insT) c.19+135_19+136insT | gnomAD v4 |
4 | g.52038092C>A | CA2670614315 | SGCB | c.33+135G>T (n.33+135G>T) c.19+135G>T | gnomAD v4 |
4 | g.52038092C= | CA1457434069 | SGCB | c.33+135G= (n.33+135G=) c.19+135G= | |
4 | g.52038092C>T | CA1457434070 | SGCB | c.33+135G>A (n.33+135G>A) c.19+135G>A | dbSNP gnomAD v4 |
4 | g.52038093C>A | CA2670614317 | SGCB | c.33+134G>T (n.33+134G>T) c.19+134G>T | gnomAD v4 |
4 | g.52038093C>G | CA2670614319 | SGCB | c.33+134G>C (n.33+134G>C) c.19+134G>C | gnomAD v4 |
4 | g.52038093C>T | CA2670614318 | SGCB | c.33+134G>A (n.33+134G>A) c.19+134G>A | gnomAD v4 |
4 | g.52038094C>A | CA2670614327 | SGCB | c.33+133G>T (n.33+133G>T) c.19+133G>T | gnomAD v4 |
4 | g.52038094C= | CA1457434072 | SGCB | c.33+133G= (n.33+133G=) c.19+133G= | |
4 | g.52038094C>G | CA2670614328 | SGCB | c.33+133G>C (n.33+133G>C) c.19+133G>C | gnomAD v4 |
4 | g.52038094C>T | CA2670614329 | SGCB | c.33+133G>A (n.33+133G>A) c.19+133G>A | gnomAD v4 |
4 | g.52038094_52038095insCCAC | CA2670614325 | SGCB | c.33+133_33+134insTGGG (n.33+133_33+134insTGGG) c.19+133_19+134insTGGG | gnomAD v4 |
4 | g.52038094_52038095insCTAC | CA2670614323 | SGCB | c.33+133_33+134insTAGG (n.33+133_33+134insTAGG) c.19+133_19+134insTAGG | gnomAD v4 |
4 | g.52038094_52038095insCAAAC | CA2670614326 | SGCB | c.33+133_33+134insTTTGG (n.33+133_33+134insTTTGG) c.19+133_19+134insTTTGG | gnomAD v4 |
4 | g.52038094_52038095insCCAAC | CA2597764738 | SGCB | c.33+133_33+134insTTGGG (n.33+133_33+134insTTGGG) c.19+133_19+134insTTGGG | gnomAD v3 gnomAD v4 |
4 | g.52038094_52038095insCCAGC | CA2670614320 | SGCB | c.33+133_33+134insCTGGG (n.33+133_33+134insCTGGG) c.19+133_19+134insCTGGG | gnomAD v4 |
4 | g.52038094_52038095insCCCAC | CA2670614321 | SGCB | c.33+133_33+134insTGGGG (n.33+133_33+134insTGGGG) c.19+133_19+134insTGGGG | gnomAD v4 |
4 | g.52038094_52038095insCCTAC | CA2670614322 | SGCB | c.33+133_33+134insTAGGG (n.33+133_33+134insTAGGG) c.19+133_19+134insTAGGG | gnomAD v4 |
4 | g.52038094_52038095insTGCGCGCCTGCGCTTGC | CA2670614324 | SGCB | c.33+133_33+134insCAAGCGCAGGCGCGCAG (n.33+133_33+134insCAAGCGCAGGCGCGCAG) c.19+133_19+134insCAAGCGCAGGCGCGCAG | gnomAD v4 |
4 | g.52038094_52038100delinsCGATCGG | CA1457434071 | SGCB | c.33+127_33+133delinsCCGATCG (n.33+127_33+133delinsCCGATCG) c.19+127_19+133delinsCCGATCG | |
4 | g.52038094_52038095insCA | CA2670614339 | SGCB | c.33+132_33+133insTG (n.33+132_33+133insTG) c.19+132_19+133insTG | gnomAD v4 |
4 | g.52038094_52038095insCT | CA2670614333 | SGCB | c.33+132_33+133insAG (n.33+132_33+133insAG) c.19+132_19+133insAG | gnomAD v4 |
4 | g.52038094_52038095insCAA | CA2670614340 | SGCB | c.33+132_33+133insTTG (n.33+132_33+133insTTG) c.19+132_19+133insTTG | gnomAD v4 |
4 | g.52038094_52038095insCAG | CA2670614344 | SGCB | c.33+132_33+133insCTG (n.33+132_33+133insCTG) c.19+132_19+133insCTG | gnomAD v4 |
4 | g.52038094_52038095insCCA | CA2597764739 | SGCB | c.33+132_33+133insTGG (n.33+132_33+133insTGG) c.19+132_19+133insTGG | gnomAD v3 gnomAD v4 |
4 | g.52038094_52038095insCAAA | CA2670614341 | SGCB | c.33+132_33+133insTTTG (n.33+132_33+133insTTTG) c.19+132_19+133insTTTG | gnomAD v4 |
4 | g.52038094_52038095insCAAG | CA2670614342 | SGCB | c.33+132_33+133insCTTG (n.33+132_33+133insCTTG) c.19+132_19+133insCTTG | gnomAD v4 |
4 | g.52038094_52038095insCACA | CA2670614343 | SGCB | c.33+132_33+133insTGTG (n.33+132_33+133insTGTG) c.19+132_19+133insTGTG | gnomAD v4 |
4 | g.52038094_52038095insCAGG | CA2670614345 | SGCB | c.33+132_33+133insCCTG (n.33+132_33+133insCCTG) c.19+132_19+133insCCTG | gnomAD v4 |
4 | g.52038094_52038095insCCAA | CA2670614348 | SGCB | c.33+132_33+133insTTGG (n.33+132_33+133insTTGG) c.19+132_19+133insTTGG | gnomAD v4 |
4 | g.52038094_52038095insCCAG | CA1062454205 | SGCB | c.33+132_33+133insCTGG (n.33+132_33+133insCTGG) c.19+132_19+133insCTGG | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038094_52038095insCCGA | CA2670614330 | SGCB | c.33+132_33+133insTCGG (n.33+132_33+133insTCGG) c.19+132_19+133insTCGG | gnomAD v4 |
4 | g.52038094_52038095insCCAAA | CA2670614347 | SGCB | c.33+132_33+133insTTTGG (n.33+132_33+133insTTTGG) c.19+132_19+133insTTTGG | gnomAD v4 |
4 | g.52038094_52038095insCCAAG | CA2597764740 | SGCB | c.33+132_33+133insCTTGG (n.33+132_33+133insCTTGG) c.19+132_19+133insCTTGG | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038094_52038095insCCAGG | CA2670614337 | SGCB | c.33+132_33+133insCCTGG (n.33+132_33+133insCCTGG) c.19+132_19+133insCCTGG | gnomAD v4 |
4 | g.52038094_52038095insCCCAG | CA2670614338 | SGCB | c.33+132_33+133insCTGGG (n.33+132_33+133insCTGGG) c.19+132_19+133insCTGGG | gnomAD v4 |
4 | g.52038094_52038095insCCGAG | CA2670614331 | SGCB | c.33+132_33+133insCTCGG (n.33+132_33+133insCTCGG) c.19+132_19+133insCTCGG | gnomAD v4 |
4 | g.52038094_52038095insCCGGG | CA2670614332 | SGCB | c.33+132_33+133insCCCGG (n.33+132_33+133insCCCGG) c.19+132_19+133insCCCGG | gnomAD v4 |
4 | g.52038094_52038095insCCAAGG | CA2670614346 | SGCB | c.33+132_33+133insCCTTGG (n.33+132_33+133insCCTTGG) c.19+132_19+133insCCTTGG | gnomAD v4 |
4 | g.52038094_52038095insCCCAGG | CA2761648128 | SGCB | c.33+132_33+133insCCTGGG (n.33+132_33+133insCCTGGG) c.19+132_19+133insCCTGGG | |
4 | g.52038095G>A | CA796085967 | SGCB | c.33+132C>T (n.33+132C>T) c.19+132C>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038095G>C | CA1062454196 | SGCB | c.33+132C>G (n.33+132C>G) c.19+132C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038095G= | CA1457434073 | SGCB | c.33+132C= (n.33+132C=) c.19+132C= | |
4 | g.52038095G>T | CA96791458 | SGCB | c.33+132C>A (n.33+132C>A) c.19+132C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038095_52038096insGAG | CA2670614334 | SGCB | c.33+132_33+133insTCC (n.33+132_33+133insTCC) c.19+132_19+133insTCC | gnomAD v4 |
4 | g.52038095_52038096del | CA1062454200 | SGCB | c.33+131_33+132del (n.33+131_33+132del) c.19+131_19+132del | gnomAD v3 gnomAD v4 |
4 | g.52038095_52038097del | CA551343880 | SGCB | c.33+130_33+132del (n.33+130_33+132del) c.19+130_19+132del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038095_52038100del | CA551343879 | SGCB | c.33+127_33+132del (n.33+127_33+132del) c.19+127_19+132del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038095_52038110del | CA2670614335 | SGCB | c.33+117_33+132del (n.33+117_33+132del) c.19+117_19+132del | gnomAD v4 |
4 | g.52038095_52038116del | CA2670614336 | SGCB | c.33+111_33+132del (n.33+111_33+132del) c.19+111_19+132del | gnomAD v4 |
4 | g.52038096A>C | CA1062454214 | SGCB | c.33+131T>G (n.33+131T>G) c.19+131T>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038096A>G | CA2670614349 | SGCB | c.33+131T>C (n.33+131T>C) c.19+131T>C | gnomAD v4 |
4 | g.52038096_52038097del | CA2597764741 | SGCB | c.33+130_33+131del (n.33+130_33+131del) c.19+130_19+131del | gnomAD v3 gnomAD v4 |
4 | g.52038097del | CA2670614350 | SGCB | c.33+130del (n.33+130del) c.19+130del | gnomAD v4 |
4 | g.52038097T>A | CA1062454247 | SGCB | c.33+130A>T (n.33+130A>T) c.19+130A>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038097T>C | CA1062454248 | SGCB | c.33+130A>G (n.33+130A>G) c.19+130A>G | gnomAD v3 gnomAD v4 |
4 | g.52038097T>G | CA2670614351 | SGCB | c.33+130A>C (n.33+130A>C) c.19+130A>C | gnomAD v4 |
4 | g.52038097_52038098del | CA1062454245 | SGCB | c.33+129_33+130del (n.33+129_33+130del) c.19+129_19+130del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038097_52038098insA | CA2670614355 | SGCB | c.33+129_33+130insT (n.33+129_33+130insT) c.19+129_19+130insT | gnomAD v4 |
4 | g.52038097_52038098insG | CA2670614353 | SGCB | c.33+129_33+130insC (n.33+129_33+130insC) c.19+129_19+130insC | gnomAD v4 |
4 | g.52038098C>A | CA796085973 | SGCB | c.33+129G>T (n.33+129G>T) c.19+129G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038098C= | CA1457434075 | SGCB | c.33+129G= (n.33+129G=) c.19+129G= | |
4 | g.52038098C>G | CA1062454262 | SGCB | c.33+129G>C (n.33+129G>C) c.19+129G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038098C>T | CA2670614352 | SGCB | c.33+129G>A (n.33+129G>A) c.19+129G>A | gnomAD v4 |
4 | g.52038098dup | CA2670614354 | SGCB | c.33+129dup (n.33+129dup) c.19+129dup | gnomAD v4 |
4 | g.52038098_52038100delinsCGG | CA1457434074 | SGCB | c.33+127_33+129delinsCCG (n.33+127_33+129delinsCCG) c.19+127_19+129delinsCCG | |
4 | g.52038103_52038148del | CA2761648129 | SGCB | c.33+84_33+129del (n.33+84_33+129del) c.19+84_19+129del | |
4 | g.52038098_52038099insAG | CA2670614365 | SGCB | c.33+128_33+129insCT (n.33+128_33+129insCT) c.19+128_19+129insCT | gnomAD v4 |
4 | g.52038098_52038099insCAA | CA2670614364 | SGCB | c.33+128_33+129insTTG (n.33+128_33+129insTTG) c.19+128_19+129insTTG | dbSNP gnomAD v4 |
4 | g.52038098_52038099insCAG | CA2670614363 | SGCB | c.33+128_33+129insCTG (n.33+128_33+129insCTG) c.19+128_19+129insCTG | gnomAD v4 |
4 | g.52038098_52038099insCCA | CA2670614362 | SGCB | c.33+128_33+129insTGG (n.33+128_33+129insTGG) c.19+128_19+129insTGG | gnomAD v4 |
4 | g.52038098_52038099insTAG | CA2670614359 | SGCB | c.33+128_33+129insCTA (n.33+128_33+129insCTA) c.19+128_19+129insCTA | gnomAD v4 |
4 | g.52038098_52038099insAAAG | CA2670614366 | SGCB | c.33+128_33+129insCTTT (n.33+128_33+129insCTTT) c.19+128_19+129insCTTT | gnomAD v4 |
4 | g.52038098_52038099insCACG | CA2670614358 | SGCB | c.33+128_33+129insCGTG (n.33+128_33+129insCGTG) c.19+128_19+129insCGTG | gnomAD v4 |
4 | g.52038098_52038099insCTAG | CA2670614361 | SGCB | c.33+128_33+129insCTAG (n.33+128_33+129insCTAG) c.19+128_19+129insCTAG | gnomAD v4 |
4 | g.52038099G>A | CA2670614356 | SGCB | c.33+128C>T (n.33+128C>T) c.19+128C>T | gnomAD v4 |
4 | g.52038099G>C | CA1062454269 | SGCB | c.33+128C>G (n.33+128C>G) c.19+128C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038099G= | CA1457434076 | SGCB | c.33+128C= (n.33+128C=) c.19+128C= | |
4 | g.52038099G>T | CA796085976 | SGCB | c.33+128C>A (n.33+128C>A) c.19+128C>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038099_52038100del | CA551343881 | SGCB | c.33+127_33+128del (n.33+127_33+128del) c.19+127_19+128del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038100dup | CA2670614360 | SGCB | c.33+128dup (n.33+128dup) c.19+128dup | gnomAD v4 |
4 | g.52038100del | CA2670614357 | SGCB | c.33+128del (n.33+128del) c.19+128del | gnomAD v4 |
4 | g.52038100G>A | CA2670614368 | SGCB | c.33+127C>T (n.33+127C>T) c.19+127C>T | gnomAD v4 |
4 | g.52038100G>C | CA1062454277 | SGCB | c.33+127C>G (n.33+127C>G) c.19+127C>G | gnomAD v3 gnomAD v4 |
4 | g.52038100G>T | CA2670614367 | SGCB | c.33+127C>A (n.33+127C>A) c.19+127C>A | gnomAD v4 |
4 | g.52038100_52038101insGC | CA2522016008 | SGCB | c.33+126_33+127insGC (n.33+126_33+127insGC) c.19+126_19+127insGC | gnomAD v4 |
4 | g.52038101C>A | CA2670614370 | SGCB | c.33+126G>T (n.33+126G>T) c.19+126G>T | gnomAD v4 |
4 | g.52038101C= | CA1457434077 | SGCB | c.33+126G= (n.33+126G=) c.19+126G= | |
4 | g.52038101C>G | CA2670614371 | SGCB | c.33+126G>C (n.33+126G>C) c.19+126G>C | gnomAD v4 |
4 | g.52038101C>T | CA96791470 | SGCB | c.33+126G>A (n.33+126G>A) c.19+126G>A | dbSNP gnomAD v4 |
4 | g.52038104dup | CA2670614369 | SGCB | c.33+126dup (n.33+126dup) c.19+126dup | gnomAD v4 |
4 | g.52038103C>A | CA1062454282 | SGCB | c.33+124G>T (n.33+124G>T) c.19+124G>T | gnomAD v3 gnomAD v4 |
4 | g.52038103C>G | CA2670614372 | SGCB | c.33+124G>C (n.33+124G>C) c.19+124G>C | gnomAD v4 |
4 | g.52038104C>A | CA2670614375 | SGCB | c.33+123G>T (n.33+123G>T) c.19+123G>T | gnomAD v4 |
4 | g.52038104C= | CA1457434078 | SGCB | c.33+123G= (n.33+123G=) c.19+123G= | |
4 | g.52038104C>T | CA1457434079 | SGCB | c.33+123G>A (n.33+123G>A) c.19+123G>A | dbSNP gnomAD v4 |
4 | g.52038105_52038106del | CA2670614373 | SGCB | c.33+122_33+123del (n.33+122_33+123del) c.19+122_19+123del | gnomAD v4 |
4 | g.52038105_52038111del | CA2670614374 | SGCB | c.33+117_33+123del (n.33+117_33+123del) c.19+117_19+123del | gnomAD v4 |
4 | g.52038104_52038105insAA | CA2670614378 | SGCB | c.33+122_33+123insTT (n.33+122_33+123insTT) c.19+122_19+123insTT | gnomAD v4 |
4 | g.52038105del | CA2670614377 | SGCB | c.33+122del (n.33+122del) c.19+122del | dbSNP gnomAD v4 |
4 | g.52038105G>A | CA1062454285 | SGCB | c.33+122C>T (n.33+122C>T) c.19+122C>T | gnomAD v3 gnomAD v4 |
4 | g.52038105G>C | CA1062454286 | SGCB | c.33+122C>G (n.33+122C>G) c.19+122C>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038105G= | CA1457434080 | SGCB | c.33+122C= (n.33+122C=) c.19+122C= | |
4 | g.52038105G>T | CA2670614376 | SGCB | c.33+122C>A (n.33+122C>A) c.19+122C>A | gnomAD v4 |
4 | g.52038105_52038108del | CA1062454283 | SGCB | c.33+119_33+122del (n.33+119_33+122del) c.19+119_19+122del | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038105_52038109del | CA2761648130 | SGCB | c.33+118_33+122del (n.33+118_33+122del) c.19+118_19+122del | |
4 | g.52038105_52038110del | CA1062454284 | SGCB | c.33+117_33+122del (n.33+117_33+122del) c.19+117_19+122del | gnomAD v3 gnomAD v4 |
4 | g.52038106C>A | CA2670614379 | SGCB | c.33+121G>T (n.33+121G>T) c.19+121G>T | dbSNP gnomAD v4 |
4 | g.52038106C= | CA1457434081 | SGCB | c.33+121G= (n.33+121G=) c.19+121G= | |
4 | g.52038106C>G | CA96791483 | SGCB | c.33+121G>C (n.33+121G>C) c.19+121G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038106C>T | CA2670614380 | SGCB | c.33+121G>A (n.33+121G>A) c.19+121G>A | gnomAD v4 |
4 | g.52038107C= | CA1457434082 | SGCB | c.33+120G= (n.33+120G=) c.19+120G= | |
4 | g.52038107C>G | CA796085978 | SGCB | c.33+120G>C (n.33+120G>C) c.19+120G>C | dbSNP |
4 | g.52038107C>T | CA1062454296 | SGCB | c.33+120G>A (n.33+120G>A) c.19+120G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038108G>A | CA1457434084 | SGCB | c.33+119C>T (n.33+119C>T) c.19+119C>T | dbSNP gnomAD v4 |
4 | g.52038108G>C | CA1062454299 | SGCB | c.33+119C>G (n.33+119C>G) c.19+119C>G | gnomAD v3 gnomAD v4 |
4 | g.52038108G= | CA1457434083 | SGCB | c.33+119C= (n.33+119C=) c.19+119C= | |
4 | g.52038108G>T | CA2670614381 | SGCB | c.33+119C>A (n.33+119C>A) c.19+119C>A | gnomAD v4 |
4 | g.52038108_52038109del | CA2670614382 | SGCB | c.33+118_33+119del (n.33+118_33+119del) c.19+118_19+119del | gnomAD v4 |
4 | g.52038108_52038110del | CA1062454298 | SGCB | c.33+117_33+119del (n.33+117_33+119del) c.19+117_19+119del | gnomAD v3 gnomAD v4 |
4 | g.52038109A>C | CA2670614383 | SGCB | c.33+118T>G (n.33+118T>G) c.19+118T>G | gnomAD v4 |
4 | g.52038109A>T | CA2670614384 | SGCB | c.33+118T>A (n.33+118T>A) c.19+118T>A | gnomAD v4 |
4 | g.52038110A= | CA1457434085 | SGCB | c.33+117T= (n.33+117T=) c.19+117T= | |
4 | g.52038110A>C | CA2670614385 | SGCB | c.33+117T>G (n.33+117T>G) c.19+117T>G | gnomAD v4 |
4 | g.52038110A>G | CA796085981 | SGCB | c.33+117T>C (n.33+117T>C) c.19+117T>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038111C>A | CA2670614386 | SGCB | c.33+116G>T (n.33+116G>T) c.19+116G>T | gnomAD v4 |
4 | g.52038111C>G | CA2670614388 | SGCB | c.33+116G>C (n.33+116G>C) c.19+116G>C | gnomAD v4 |
4 | g.52038111C>T | CA2670614387 | SGCB | c.33+116G>A (n.33+116G>A) c.19+116G>A | gnomAD v4 |
4 | g.52038113_52038114insCCCC | CA2556478867 | SGCB | c.33+116_33+117insGGGG (n.33+116_33+117insGGGG) c.19+116_19+117insGGGG | |
4 | g.52038113dup | CA2670614390 | SGCB | c.33+116dup (n.33+116dup) c.19+116dup | gnomAD v4 |
4 | g.52038112_52038129del | CA2670614389 | SGCB | c.33+99_33+116del (n.33+99_33+116del) c.19+99_19+116del | gnomAD v4 |
4 | g.52038112C>A | CA2670614391 | SGCB | c.33+115G>T (n.33+115G>T) c.19+115G>T | gnomAD v4 |
4 | g.52038112C>G | CA2670614392 | SGCB | c.33+115G>C (n.33+115G>C) c.19+115G>C | gnomAD v4 |
4 | g.52038112C>T | CA2525092344 | SGCB | c.33+115G>A (n.33+115G>A) c.19+115G>A | gnomAD v4 |
4 | g.52038112_52038123del | CA2597764744 | SGCB | c.33+104_33+115del (n.33+104_33+115del) c.19+104_19+115del | gnomAD v3 gnomAD v4 |
4 | g.52038113C>A | CA2670614393 | SGCB | c.33+114G>T (n.33+114G>T) c.19+114G>T | gnomAD v4 |
4 | g.52038113C>T | CA2670614394 | SGCB | c.33+114G>A (n.33+114G>A) c.19+114G>A | gnomAD v4 |
4 | g.52038114del | CA2670614399 | SGCB | c.33+113del (n.33+113del) c.19+113del | gnomAD v4 |
4 | g.52038114A= | CA1457434086 | SGCB | c.33+113T= (n.33+113T=) c.19+113T= | |
4 | g.52038114A>C | CA796085989 | SGCB | c.33+113T>G (n.33+113T>G) c.19+113T>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038114A>G | CA2670614397 | SGCB | c.33+113T>C (n.33+113T>C) c.19+113T>C | gnomAD v4 |
4 | g.52038114A>T | CA2670614396 | SGCB | c.33+113T>A (n.33+113T>A) c.19+113T>A | gnomAD v4 |
4 | g.52038114_52038116del | CA2670614398 | SGCB | c.33+111_33+113del (n.33+111_33+113del) c.19+111_19+113del | gnomAD v4 |
4 | g.52038115_52038116del | CA2670614395 | SGCB | c.33+112_33+113del (n.33+112_33+113del) c.19+112_19+113del | gnomAD v4 |
4 | g.52038114_52038128del | CA2524549534 | SGCB | c.33+99_33+113del (n.33+99_33+113del) c.19+99_19+113del | |
4 | g.52038115del | CA2670614406 | SGCB | c.33+112del (n.33+112del) c.19+112del | gnomAD v4 |
4 | g.52038115G>A | CA2670614403 | SGCB | c.33+112C>T (n.33+112C>T) c.19+112C>T | gnomAD v4 |
4 | g.52038115G>C | CA2670614402 | SGCB | c.33+112C>G (n.33+112C>G) c.19+112C>G | gnomAD v4 |
4 | g.52038115G>T | CA2670614401 | SGCB | c.33+112C>A (n.33+112C>A) c.19+112C>A | gnomAD v4 |
4 | g.52038115_52038128del | CA2670614404 | SGCB | c.33+99_33+112del (n.33+99_33+112del) c.19+99_19+112del | gnomAD v4 |
4 | g.52038116_52038128del | CA2670614405 | SGCB | c.33+100_33+112del (n.33+100_33+112del) c.19+100_19+112del | gnomAD v4 |
4 | g.52038118_52038177del | CA2670614400 | SGCB | c.33+53_33+112del (n.33+53_33+112del) c.19+53_19+112del | gnomAD v4 |
4 | g.52038116A>C | CA1062454331 | SGCB | c.33+111T>G (n.33+111T>G) c.19+111T>G | gnomAD v3 gnomAD v4 |
4 | g.52038116A>G | CA2670614407 | SGCB | c.33+111T>C (n.33+111T>C) c.19+111T>C | gnomAD v4 |
4 | g.52038116A>T | CA2670614408 | SGCB | c.33+111T>A (n.33+111T>A) c.19+111T>A | gnomAD v4 |
4 | g.52038117C>A | CA2670614409 | SGCB | c.33+110G>T (n.33+110G>T) c.19+110G>T | gnomAD v4 |
4 | g.52038117C= | CA1457434087 | SGCB | c.33+110G= (n.33+110G=) c.19+110G= | |
4 | g.52038117C>T | CA1062454335 | SGCB | c.33+110G>A (n.33+110G>A) c.19+110G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038118C>A | CA1457434089 | SGCB | c.33+109G>T (n.33+109G>T) c.19+109G>T | dbSNP gnomAD v4 |
4 | g.52038118C= | CA1457434088 | SGCB | c.33+109G= (n.33+109G=) c.19+109G= | |
4 | g.52038118C>T | CA796085997 | SGCB | c.33+109G>A (n.33+109G>A) c.19+109G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038120_52038126dup | CA2597764746 | SGCB | c.33+103_33+109dup (n.33+103_33+109dup) c.19+103_19+109dup | gnomAD v3 gnomAD v4 |
4 | g.52038119C>A | CA2670614411 | SGCB | c.33+108G>T (n.33+108G>T) c.19+108G>T | gnomAD v4 |
4 | g.52038119C>G | CA2670614412 | SGCB | c.33+108G>C (n.33+108G>C) c.19+108G>C | gnomAD v4 |
4 | g.52038119C>T | CA2670614413 | SGCB | c.33+108G>A (n.33+108G>A) c.19+108G>A | gnomAD v4 |
4 | g.52038119_52038123del | CA2670614410 | SGCB | c.33+104_33+108del (n.33+104_33+108del) c.19+104_19+108del | gnomAD v4 |
4 | g.52038120T>A | CA2670614415 | SGCB | c.33+107A>T (n.33+107A>T) c.19+107A>T | gnomAD v4 |
4 | g.52038120T>C | CA796085998 | SGCB | c.33+107A>G (n.33+107A>G) c.19+107A>G | dbSNP gnomAD v4 |
4 | g.52038120T>G | CA2670614414 | SGCB | c.33+107A>C (n.33+107A>C) c.19+107A>C | gnomAD v4 |
4 | g.52038120T= | CA1457434090 | SGCB | c.33+107A= (n.33+107A=) c.19+107A= | |
4 | g.52038121G>A | CA2670614417 | SGCB | c.33+106C>T (n.33+106C>T) c.19+106C>T | gnomAD v4 |
4 | g.52038121G>T | CA2670614418 | SGCB | c.33+106C>A (n.33+106C>A) c.19+106C>A | gnomAD v4 |
4 | g.52038124_52038130del | CA2670614416 | SGCB | c.33+100_33+106del (n.33+100_33+106del) c.19+100_19+106del | gnomAD v4 |
4 | g.52038122del | CA2670614419 | SGCB | c.33+105del (n.33+105del) c.19+105del | gnomAD v4 |
4 | g.52038122C>A | CA1457434092 | SGCB | c.33+105G>T (n.33+105G>T) c.19+105G>T | dbSNP gnomAD v4 |
4 | g.52038122C= | CA1457434091 | SGCB | c.33+105G= (n.33+105G=) c.19+105G= | |
4 | g.52038122C>T | CA2670614420 | SGCB | c.33+105G>A (n.33+105G>A) c.19+105G>A | gnomAD v4 |
4 | g.52038123G>A | CA796086014 | SGCB | c.33+104C>T (n.33+104C>T) c.19+104C>T | dbSNP gnomAD v4 |
4 | g.52038123G= | CA1457434093 | SGCB | c.33+104C= (n.33+104C=) c.19+104C= | |
4 | g.52038123G>T | CA2670614421 | SGCB | c.33+104C>A (n.33+104C>A) c.19+104C>A | gnomAD v4 |
4 | g.52038124G>A | CA2670614422 | SGCB | c.33+103C>T (n.33+103C>T) c.19+103C>T | gnomAD v4 |
4 | g.52038124G>T | CA2670614423 | SGCB | c.33+103C>A (n.33+103C>A) c.19+103C>A | gnomAD v4 |
4 | g.52038124_52038133delinsGCCCGCGCCC | CA1457434094 | SGCB | c.33+94_33+103delinsGGGCGCGGGC (n.33+94_33+103delinsGGGCGCGGGC) c.19+94_19+103delinsGGGCGCGGGC | |
4 | g.52038125C>A | CA2670614424 | SGCB | c.33+102G>T (n.33+102G>T) c.19+102G>T | gnomAD v4 |
4 | g.52038125C>T | CA2670614425 | SGCB | c.33+102G>A (n.33+102G>A) c.19+102G>A | gnomAD v4 |
4 | g.52038130_52038138del | CA796086016 | SGCB | c.33+94_33+102del (n.33+94_33+102del) c.19+94_19+102del | dbSNP gnomAD v4 |
4 | g.52038126C>A | CA96791485 | SGCB | c.33+101G>T (n.33+101G>T) c.19+101G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038126C= | CA1457434095 | SGCB | c.33+101G= (n.33+101G=) c.19+101G= | |
4 | g.52038126C>T | CA2597764747 | SGCB | c.33+101G>A (n.33+101G>A) c.19+101G>A | gnomAD v3 gnomAD v4 |
4 | g.52038127C>A | CA2670614427 | SGCB | c.33+100G>T (n.33+100G>T) c.19+100G>T | gnomAD v4 |
4 | g.52038127C= | CA1457434096 | SGCB | c.33+100G= (n.33+100G=) c.19+100G= | |
4 | g.52038127C>T | CA1457434097 | SGCB | c.33+100G>A (n.33+100G>A) c.19+100G>A | dbSNP gnomAD v4 |
4 | g.52038130_52038131del | CA2670614426 | SGCB | c.33+99_33+100del (n.33+99_33+100del) c.19+99_19+100del | gnomAD v4 |
4 | g.52038128G>A | CA2670614429 | SGCB | c.33+99C>T (n.33+99C>T) c.19+99C>T | gnomAD v4 |
4 | g.52038128G>C | CA2597764748 | SGCB | c.33+99C>G (n.33+99C>G) c.19+99C>G | gnomAD v3 gnomAD v4 |
4 | g.52038128G>T | CA2670614430 | SGCB | c.33+99C>A (n.33+99C>A) c.19+99C>A | gnomAD v4 |
4 | g.52038128_52038130del | CA2670614428 | SGCB | c.33+97_33+99del (n.33+97_33+99del) c.19+97_19+99del | gnomAD v4 |
4 | g.52038129C>A | CA2670614431 | SGCB | c.33+98G>T (n.33+98G>T) c.19+98G>T | gnomAD v4 |
4 | g.52038129C= | CA1457434098 | SGCB | c.33+98G= (n.33+98G=) c.19+98G= | |
4 | g.52038129C>T | CA96791487 | SGCB | c.33+98G>A (n.33+98G>A) c.19+98G>A | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038130del | CA2670614432 | SGCB | c.33+97del (n.33+97del) c.19+97del | gnomAD v4 |
4 | g.52038130G>A | CA2670614433 | SGCB | c.33+97C>T (n.33+97C>T) c.19+97C>T | gnomAD v4 |
4 | g.52038130G>C | CA2670614434 | SGCB | c.33+97C>G (n.33+97C>G) c.19+97C>G | gnomAD v4 |
4 | g.52038130G= | CA1457434099 | SGCB | c.33+97C= (n.33+97C=) c.19+97C= | |
4 | g.52038130G>T | CA2670614435 | SGCB | c.33+97C>A (n.33+97C>A) c.19+97C>A | gnomAD v4 |
4 | g.52038131C>A | CA2578086718 | SGCB | c.33+96G>T (n.33+96G>T) c.19+96G>T | gnomAD v4 |
4 | g.52038131C>T | CA2670614436 | SGCB | c.33+96G>A (n.33+96G>A) c.19+96G>A | gnomAD v4 |
4 | g.52038136dup | CA796086021 | SGCB | c.33+96dup (n.33+96dup) c.19+96dup | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038136del | CA2578086717 | SGCB | c.33+96del (n.33+96del) c.19+96del | gnomAD v4 |
4 | g.52038136_52038144dup | CA2670614437 | SGCB | c.33+88_33+96dup (n.33+88_33+96dup) c.19+88_19+96dup | gnomAD v4 |
4 | g.52038136_52038144del | CA2670614438 | SGCB | c.33+88_33+96del (n.33+88_33+96del) c.19+88_19+96del | gnomAD v4 |
4 | g.52038132C>A | CA2670614439 | SGCB | c.33+95G>T (n.33+95G>T) c.19+95G>T | gnomAD v4 |
4 | g.52038132C>T | CA2670614440 | SGCB | c.33+95G>A (n.33+95G>A) c.19+95G>A | gnomAD v4 |
4 | g.52038133C>A | CA1457434101 | SGCB | c.33+94G>T (n.33+94G>T) c.19+94G>T | dbSNP gnomAD v4 |
4 | g.52038133C= | CA1457434100 | SGCB | c.33+94G= (n.33+94G=) c.19+94G= | |
4 | g.52038133C>T | CA2670614441 | SGCB | c.33+94G>A (n.33+94G>A) c.19+94G>A | gnomAD v4 |
4 | g.52038134C>A | CA2670614444 | SGCB | c.33+93G>T (n.33+93G>T) c.19+93G>T | gnomAD v4 |
4 | g.52038134C>G | CA2670614443 | SGCB | c.33+93G>C (n.33+93G>C) c.19+93G>C | gnomAD v4 |
4 | g.52038134C>T | CA2670614442 | SGCB | c.33+93G>A (n.33+93G>A) c.19+93G>A | gnomAD v4 |
4 | g.52038135C= | CA1457434102 | SGCB | c.33+92G= (n.33+92G=) c.19+92G= | |
4 | g.52038135C>G | CA796086030 | SGCB | c.33+92G>C (n.33+92G>C) c.19+92G>C | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038135C>T | CA1457434103 | SGCB | c.33+92G>A (n.33+92G>A) c.19+92G>A | dbSNP gnomAD v4 |
4 | g.52038136C>A | CA1062454348 | SGCB | c.33+91G>T (n.33+91G>T) c.19+91G>T | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038136C= | CA1457434104 | SGCB | c.33+91G= (n.33+91G=) c.19+91G= | |
4 | g.52038136C>G | CA2670614445 | SGCB | c.33+91G>C (n.33+91G>C) c.19+91G>C | gnomAD v4 |
4 | g.52038136C>T | CA2670614446 | SGCB | c.33+91G>A (n.33+91G>A) c.19+91G>A | gnomAD v4 |
4 | g.52038137del | CA2670614450 | SGCB | c.33+90del (n.33+90del) c.19+90del | gnomAD v4 |
4 | g.52038137G>A | CA551343882 | SGCB | c.33+90C>T (n.33+90C>T) c.19+90C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038137G>C | CA2670614448 | SGCB | c.33+90C>G (n.33+90C>G) c.19+90C>G | gnomAD v4 |
4 | g.52038137G= | CA1457434105 | SGCB | c.33+90C= (n.33+90C=) c.19+90C= | |
4 | g.52038137G>T | CA2670614447 | SGCB | c.33+90C>A (n.33+90C>A) c.19+90C>A | gnomAD v4 |
4 | g.52038139_52038147del | CA2670614449 | SGCB | c.33+82_33+90del (n.33+82_33+90del) c.19+82_19+90del | gnomAD v4 |
4 | g.52038138C>A | CA2670614451 | SGCB | c.33+89G>T (n.33+89G>T) c.19+89G>T | gnomAD v4 |
4 | g.52038138C>T | CA2670614452 | SGCB | c.33+89G>A (n.33+89G>A) c.19+89G>A | gnomAD v4 |
4 | g.52038139A= | CA1457434106 | SGCB | c.33+88T= (n.33+88T=) c.19+88T= | |
4 | g.52038139A>C | CA1062454360 | SGCB | c.33+88T>G (n.33+88T>G) c.19+88T>G | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038139A>G | CA2670614453 | SGCB | c.33+88T>C (n.33+88T>C) c.19+88T>C | gnomAD v4 |
4 | g.52038140C>A | CA2670614455 | SGCB | c.33+87G>T (n.33+87G>T) c.19+87G>T | gnomAD v4 |
4 | g.52038140C= | CA1457434107 | SGCB | c.33+87G= (n.33+87G=) c.19+87G= | |
4 | g.52038140C>G | CA1457434108 | SGCB | c.33+87G>C (n.33+87G>C) c.19+87G>C | dbSNP |
4 | g.52038140C>T | CA551343883 | SGCB | c.33+87G>A (n.33+87G>A) c.19+87G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52038144dup | CA96791489 | SGCB | c.33+87dup (n.33+87dup) c.19+87dup | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52038144del | CA2670614454 | SGCB | c.33+87del (n.33+87del) c.19+87del | gnomAD v4 |
4 | g.52038141C>A | CA2670614456 | SGCB | c.33+86G>T (n.33+86G>T) c.19+86G>T | gnomAD v4 |
4 | g.52038141C>T | CA2578086719 | SGCB | c.33+86G>A (n.33+86G>A) c.19+86G>A | gnomAD v4 |
4 | g.52038142C>A | CA2670614457 | SGCB | c.33+85G>T (n.33+85G>T) c.19+85G>T | gnomAD v4 |
4 | g.52038142C>T | CA2670614458 | SGCB | c.33+85G>A (n.33+85G>A) c.19+85G>A | gnomAD v4 |