| 5 | g.171776243C= | CA1600978989 | SMIM23 | c.3+2285C= (n.3+2285C=)
| |
| 5 | g.171776243C>G | CA1084362511 | SMIM23 | c.3+2285C>G (n.3+2285C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776243C>T | CA132480084 | SMIM23 | c.3+2285C>T (n.3+2285C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776244G>A | CA11953029 | SMIM23 | c.3+2286G>A (n.3+2286G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776244G= | CA1600978992 | SMIM23 | c.3+2286G= (n.3+2286G=)
| |
| 5 | g.171776244G>T | CA807545454 | SMIM23 | c.3+2286G>T (n.3+2286G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776245G>A | CA132480085 | SMIM23 | c.3+2287G>A (n.3+2287G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776245G= | CA1600978995 | SMIM23 | c.3+2287G= (n.3+2287G=)
| |
| 5 | g.171776246T>A | CA132480086 | SMIM23 | c.3+2288T>A (n.3+2288T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776246T= | CA1600978996 | SMIM23 | c.3+2288T= (n.3+2288T=)
| |
| 5 | g.171776247C>A | CA132480087 | SMIM23 | c.3+2289C>A (n.3+2289C>A)
| dbSNP |
| 5 | g.171776247C= | CA1600979000 | SMIM23 | c.3+2289C= (n.3+2289C=)
| |
| 5 | g.171776247C>G | CA1084362516 | SMIM23 | c.3+2289C>G (n.3+2289C>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776250A= | CA1600979006 | SMIM23 | c.3+2292A= (n.3+2292A=)
| |
| 5 | g.171776250A>T | CA1084362518 | SMIM23 | c.3+2292A>T (n.3+2292A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776251del | CA2536163970 | SMIM23 | c.3+2293del (n.3+2293del)
| |
| 5 | g.171776251C>A | CA807545458 | SMIM23 | c.3+2293C>A (n.3+2293C>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776251C= | CA1600979012 | SMIM23 | c.3+2293C= (n.3+2293C=)
| |
| 5 | g.171776251C>G | CA1084362525 | SMIM23 | c.3+2293C>G (n.3+2293C>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776252A= | CA1600979015 | SMIM23 | c.3+2294A= (n.3+2294A=)
| |
| 5 | g.171776252A>G | CA1084362530 | SMIM23 | c.3+2294A>G (n.3+2294A>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776252A>T | CA1600979016 | SMIM23 | c.3+2294A>T (n.3+2294A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776253_171776254insGG | CA2606356811 | SMIM23 | c.3+2295_3+2296insGG (n.3+2295_3+2296insGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776254del | CA1084362541 | SMIM23 | c.3+2296del (n.3+2296del)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776254T>G | CA564775645 | SMIM23 | c.3+2296T>G (n.3+2296T>G)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776255_171776256delinsGA | CA1600979018 | SMIM23 | c.3+2297_3+2298delinsGA (n.3+2297_3+2298delinsGA)
| |
| 5 | g.171776255_171776256insGTCTGGGT | CA1084362554 | SMIM23 | c.3+2297_3+2298insGTCTGGGT (n.3+2297_3+2298insGTCTGGGT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776256del | CA1084362556 | SMIM23 | c.3+2298del (n.3+2298del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776256A= | CA1600979020 | SMIM23 | c.3+2298A= (n.3+2298A=)
| |
| 5 | g.171776256A>G | CA564775646 | SMIM23 | c.3+2298A>G (n.3+2298A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776256A>T | CA1600979024 | SMIM23 | c.3+2298A>T (n.3+2298A>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776257_171776258insGGGGG | CA2546247015 | SMIM23 | c.3+2299_3+2300insGGGGG (n.3+2299_3+2300insGGGGG)
| |
| 5 | g.171776257_171776258insGGGGGG | CA1084362564 | SMIM23 | c.3+2299_3+2300insGGGGGG (n.3+2299_3+2300insGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776257_171776258insGGGGGGTGGG | CA1084362560 | SMIM23 | c.3+2299_3+2300insGGGGGGTGGG (n.3+2299_3+2300insGGGGGGTGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776257_171776258delinsGC | CA1600979027 | SMIM23 | c.3+2299_3+2300delinsGC (n.3+2299_3+2300delinsGC)
| |
| 5 | g.171776258_171776263dup | CA1084362577 | SMIM23 | c.3+2300_3+2305dup (n.3+2300_3+2305dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776258del | CA1084362584 | SMIM23 | c.3+2300del (n.3+2300del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776258C= | CA1600979032 | SMIM23 | c.3+2300C= (n.3+2300C=)
| |
| 5 | g.171776258C>G | CA564775647 | SMIM23 | c.3+2300C>G (n.3+2300C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776258C>T | CA132480088 | SMIM23 | c.3+2300C>T (n.3+2300C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776259G>A | CA807545465 | SMIM23 | c.3+2301G>A (n.3+2301G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776259G>C | CA1084362590 | SMIM23 | c.3+2301G>C (n.3+2301G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776259G= | CA1600979042 | SMIM23 | c.3+2301G= (n.3+2301G=)
| |
| 5 | g.171776259G>T | CA132480089 | SMIM23 | c.3+2301G>T (n.3+2301G>T)
| dbSNP |
| 5 | g.171776263_171776264insGGGGGG | CA1084362602 | SMIM23 | c.3+2305_3+2306insGGGGGG (n.3+2305_3+2306insGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insTGGGGG | CA1084362594 | SMIM23 | c.3+2305_3+2306insTGGGGG (n.3+2305_3+2306insTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insGGGGGGG | CA1084362592 | SMIM23 | c.3+2305_3+2306insGGGGGGG (n.3+2305_3+2306insGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insGGGGGGGG | CA1084362601 | SMIM23 | c.3+2305_3+2306insGGGGGGGG (n.3+2305_3+2306insGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insGGGGGGGGG | CA1084362600 | SMIM23 | c.3+2305_3+2306insGGGGGGGGG (n.3+2305_3+2306insGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insGGGGGGGGGGGGG | CA1084362599 | SMIM23 | c.3+2305_3+2306insGGGGGGGGGGGGG (n.3+2305_3+2306insGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263_171776264insGGGGGGGGGGGGGGG | CA1084362606 | SMIM23 | c.3+2305_3+2306insGGGGGGGGGGGGGGG (n.3+2305_3+2306insGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776263dup | CA1084362605 | SMIM23 | c.3+2305dup (n.3+2305dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776260G>A | CA564775648 | SMIM23 | c.3+2302G>A (n.3+2302G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776260G= | CA1600979048 | SMIM23 | c.3+2302G= (n.3+2302G=)
| |
| 5 | g.171776262G>A | CA1084362612 | SMIM23 | c.3+2304G>A (n.3+2304G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776262G>C | CA2553155762 | SMIM23 | c.3+2304G>C (n.3+2304G>C)
| |
| 5 | g.171776262G= | CA1600979050 | SMIM23 | c.3+2304G= (n.3+2304G=)
| |
| 5 | g.171776263G>A | CA132480090 | SMIM23 | c.3+2305G>A (n.3+2305G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776263G= | CA1600979055 | SMIM23 | c.3+2305G= (n.3+2305G=)
| |
| 5 | g.171776263_171776264delinsGA | CA1600979059 | SMIM23 | c.3+2305_3+2306delinsGA (n.3+2305_3+2306delinsGA)
| |
| 5 | g.171776263_171776264insC | CA1084362619 | SMIM23 | c.3+2305_3+2306insC (n.3+2305_3+2306insC)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776264del | CA807545469 | SMIM23 | c.3+2306del (n.3+2306del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776264A= | CA1600979066 | SMIM23 | c.3+2306A= (n.3+2306A=)
| |
| 5 | g.171776264A>C | CA1600979067 | SMIM23 | c.3+2306A>C (n.3+2306A>C)
| dbSNP |
| 5 | g.171776264A>G | CA132480091 | SMIM23 | c.3+2306A>G (n.3+2306A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776264A>T | CA2606356815 | SMIM23 | c.3+2306A>T (n.3+2306A>T)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776264_171776265delinsAG | CA1600979068 | SMIM23 | c.3+2306_3+2307delinsAG (n.3+2306_3+2307delinsAG)
| |
| 5 | g.171776264_171776265insTGGGGGGTGGGGGGGGGGGG | CA2710643008 | SMIM23 | c.3+2306_3+2307insTGGGGGGTGGGGGGGGGGGG (n.3+2306_3+2307insTGGGGGGTGGGGGGGGGGGG)
| dbSNP |
| 5 | g.171776265G>A | CA1600979094 | SMIM23 | c.3+2307G>A (n.3+2307G>A)
| dbSNP |
| 5 | g.171776265G= | CA1600979091 | SMIM23 | c.3+2307G= (n.3+2307G=)
| |
| 5 | g.171776265G>T | CA1084362688 | SMIM23 | c.3+2307G>T (n.3+2307G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776269_171776270insTGTGGGGGGGGGGGGGGG | CA1084362686 | SMIM23 | c.3+2311_3+2312insTGTGGGGGGGGGGGGGGG (n.3+2311_3+2312insTGTGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGG | CA564775652 | SMIM23 | c.3+2313_3+2314insGGGGGGGG (n.3+2313_3+2314insGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGG | CA1084362725 | SMIM23 | c.3+2313_3+2314insGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGG | CA1084362727 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGTGGGGGGGG | CA1084362677 | SMIM23 | c.3+2313_3+2314insGTGGGGGGGG (n.3+2313_3+2314insGTGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGG | CA1084362730 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGG | CA564775653 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGGG | CA1084362732 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGGGG | CA564775654 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGGG)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGGGGG | CA1084362737 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGGGGGGG | CA1084362689 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGTGGGGGGGGGGGGGGGG | CA1084362678 | SMIM23 | c.3+2313_3+2314insGTGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGTGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGTGGGGGGGGGGGGGGGGG | CA1084362679 | SMIM23 | c.3+2313_3+2314insGTGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGTGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGGGGGGGGGGGGG | CA1084362691 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGTGGGGGGGGGGGGGGGG | CA1084362671 | SMIM23 | c.3+2313_3+2314insGGGGGTGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGTGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGTGGGGGGGGGGGGGGGGG | CA1084362676 | SMIM23 | c.3+2313_3+2314insGGGGTGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGTGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776271_171776272insGGGGGGGGGGGGGGGGGGGGGGGGG | CA1084362659 | SMIM23 | c.3+2313_3+2314insGGGGGGGGGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGTGGGGGGGGGGGGGGGG | CA1084362663 | SMIM23 | c.3+2313_3+2314insGGGGGGGGTGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGTGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGGGGGGGGTGGGGGGGGGGGGGGGGG | CA1084362667 | SMIM23 | c.3+2313_3+2314insGGGGGGGGTGGGGGGGGGGGGGGGGG (n.3+2313_3+2314insGGGGGGGGTGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271dup | CA1084362695 | SMIM23 | c.3+2313dup (n.3+2313dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776270_171776271dup | CA1084362700 | SMIM23 | c.3+2312_3+2313dup (n.3+2312_3+2313dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776269_171776271dup | CA1084362702 | SMIM23 | c.3+2311_3+2313dup (n.3+2311_3+2313dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776268_171776271dup | CA1084362714 | SMIM23 | c.3+2310_3+2313dup (n.3+2310_3+2313dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776267_171776271dup | CA1084362720 | SMIM23 | c.3+2309_3+2313dup (n.3+2309_3+2313dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776266_171776271dup | CA564775651 | SMIM23 | c.3+2308_3+2313dup (n.3+2308_3+2313dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776265_171776271dup | CA1084362721 | SMIM23 | c.3+2307_3+2313dup (n.3+2307_3+2313dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271del | CA132480092 | SMIM23 | c.3+2313del (n.3+2313del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGGGGGGGT | CA1084362655 | SMIM23 | c.3+2314_3+2315insGGGGGGGGT (n.3+2314_3+2315insGGGGGGGGT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGT | CA1084362680 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGT (n.3+2314_3+2315insGGGGGGGGGGGGGT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGT | CA1084362681 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGT (n.3+2314_3+2315insGGGGGGGGGGGGGGGGT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGT | CA1084362684 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGT (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGT)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGTGGGGGGGGGGGGGGGGGT | CA2569825935 | SMIM23 | c.3+2314_3+2315insGGTGGGGGGGGGGGGGGGGGT (n.3+2314_3+2315insGGTGGGGGGGGGGGGGGGGGT)
| |
| 5 | g.171776266G>A | CA807545490 | SMIM23 | c.3+2308G>A (n.3+2308G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776266G>C | CA807545491 | SMIM23 | c.3+2308G>C (n.3+2308G>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776266G= | CA1600979116 | SMIM23 | c.3+2308G= (n.3+2308G=)
| |
| 5 | g.171776266G>T | CA132480093 | SMIM23 | c.3+2308G>T (n.3+2308G>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776268G= | CA1600979122 | SMIM23 | c.3+2310G= (n.3+2310G=)
| |
| 5 | g.171776268G>T | CA807545493 | SMIM23 | c.3+2310G>T (n.3+2310G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776269G>A | CA1600979132 | SMIM23 | c.3+2311G>A (n.3+2311G>A)
| dbSNP |
| 5 | g.171776269G= | CA1600979130 | SMIM23 | c.3+2311G= (n.3+2311G=)
| |
| 5 | g.171776270G>A | CA807545495 | SMIM23 | c.3+2312G>A (n.3+2312G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776270G= | CA1600979134 | SMIM23 | c.3+2312G= (n.3+2312G=)
| |
| 5 | g.171776271G>A | CA132480094 | SMIM23 | c.3+2313G>A (n.3+2313G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776271G= | CA1600979140 | SMIM23 | c.3+2313G= (n.3+2313G=)
| |
| 5 | g.171776271G>T | CA1084362752 | SMIM23 | c.3+2313G>T (n.3+2313G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776279del | CA2769418508 | SMIM23 | c.3+2314_3+2321del (n.3+2314_3+2321del)
| |
| 5 | g.171776271_171776272insGGGGGGGT | CA1084362764 | SMIM23 | c.3+2313_3+2314insGGGGGGGT (n.3+2313_3+2314insGGGGGGGT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776271_171776272insGTGGGGGGGGGGGGGGGGC | CA1084362763 | SMIM23 | c.3+2313_3+2314insGTGGGGGGGGGGGGGGGGC (n.3+2313_3+2314insGTGGGGGGGGGGGGGGGGC)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272T>A | CA1084362760 | SMIM23 | c.3+2314T>A (n.3+2314T>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272T>C | CA564775658 | SMIM23 | c.3+2314T>C (n.3+2314T>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776272T>G | CA564775657 | SMIM23 | c.3+2314T>G (n.3+2314T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776272T= | CA1600979146 | SMIM23 | c.3+2314T= (n.3+2314T=)
| |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGTT | CA1084362759 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGTT (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGTT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273del | CA564775659 | SMIM23 | c.3+2314_3+2315del (n.3+2314_3+2315del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776273dup | CA1084362762 | SMIM23 | c.3+2315dup (n.3+2315dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insG | CA1084362768 | SMIM23 | c.3+2314_3+2315insG (n.3+2314_3+2315insG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776272_171776273insGGGGGGG | CA2548874354 | SMIM23 | c.3+2314_3+2315insGGGGGGG (n.3+2314_3+2315insGGGGGGG)
| dbSNP |
| 5 | g.171776272_171776273insGGGGGGGG | CA2769418509 | SMIM23 | c.3+2314_3+2315insGGGGGGGG (n.3+2314_3+2315insGGGGGGGG)
| |
| 5 | g.171776272_171776273insGGGGGGGGG | CA2769418513 | SMIM23 | c.3+2314_3+2315insGGGGGGGGG (n.3+2314_3+2315insGGGGGGGGG)
| |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGG | CA2769418512 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGG (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGGGG | CA2769418511 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGG (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGGGGG | CA2769418510 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGGG (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776272_171776273insGGGGGGGGGGGGGGGGGGGGGGGGG | CA1084362769 | SMIM23 | c.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGGGGGGG (n.3+2314_3+2315insGGGGGGGGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776273T>G | CA132480095 | SMIM23 | c.3+2315T>G (n.3+2315T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.171776273T= | CA1600979149 | SMIM23 | c.3+2315T= (n.3+2315T=)
| |
| 5 | g.171776273_171776274insTTGGGGGGGGGGGGGGGGGGGGGG | CA2606356818 | SMIM23 | c.3+2315_3+2316insTTGGGGGGGGGGGGGGGGGGGGGG (n.3+2315_3+2316insTTGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776274G>T | CA2769418514 | SMIM23 | c.3+2316G>T (n.3+2316G>T)
| |
| 5 | g.171776277_171776278insGGGGGGGGG | CA1084362776 | SMIM23 | c.3+2319_3+2320insGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGG | CA1084362800 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGG | CA2769418515 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGG)
| |
| 5 | g.171776277_171776278insGGGGGTGGGGG | CA1084362777 | SMIM23 | c.3+2319_3+2320insGGGGGTGGGGG (n.3+2319_3+2320insGGGGGTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGG | CA2769418517 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGG)
| |
| 5 | g.171776277_171776278insGGGGGGTGGGGG | CA1084362781 | SMIM23 | c.3+2319_3+2320insGGGGGGTGGGGG (n.3+2319_3+2320insGGGGGGTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGG | CA2606356822 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGG | CA2570518023 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGG | CA2769418516 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGG)
| |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGG | CA1084362798 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGG | CA1084362796 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGTGGGGG | CA1084362782 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGTGGGGG (n.3+2319_3+2320insGGGGGGGGGGGTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGG | CA2606356819 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGG | CA564775660 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGTGGGGG | CA564775662 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGTGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGTGGGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGGG | CA2606356817 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGTGGGGG | CA1084362784 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGTGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGGGG | CA1084362802 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGGGGG | CA1084362792 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGGGGGG | CA2556019295 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776277_171776278insGGGGGGGGGGGGGGGGGGGTGGGGG | CA1084362786 | SMIM23 | c.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGTGGGGG (n.3+2319_3+2320insGGGGGGGGGGGGGGGGGGGTGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277dup | CA564775661 | SMIM23 | c.3+2319dup (n.3+2319dup)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776276_171776277dup | CA1084362801 | SMIM23 | c.3+2318_3+2319dup (n.3+2318_3+2319dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776275_171776277dup | CA2606356821 | SMIM23 | c.3+2317_3+2319dup (n.3+2317_3+2319dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776275G>A | CA1084362806 | SMIM23 | c.3+2317G>A (n.3+2317G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776275G= | CA1600979155 | SMIM23 | c.3+2317G= (n.3+2317G=)
| |
| 5 | g.171776276_171776277insT | CA1084362808 | SMIM23 | c.3+2318_3+2319insT (n.3+2318_3+2319insT)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776277G>A | CA807545519 | SMIM23 | c.3+2319G>A (n.3+2319G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776277G= | CA1600979157 | SMIM23 | c.3+2319G= (n.3+2319G=)
| |
| 5 | g.171776277_171776278insGGGGGC | CA2769418518 | SMIM23 | c.3+2319_3+2320insGGGGGC (n.3+2319_3+2320insGGGGGC)
| |
| 5 | g.171776278del | CA1084362811 | SMIM23 | c.3+2320del (n.3+2320del)
| |
| 5 | g.171776278T>G | CA132480096 | SMIM23 | c.3+2320T>G (n.3+2320T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776278T= | CA1600979161 | SMIM23 | c.3+2320T= (n.3+2320T=)
| |
| 5 | g.171776278_171776279delinsTG | CA1600979160 | SMIM23 | c.3+2320_3+2321delinsTG (n.3+2320_3+2321delinsTG)
| |
| 5 | g.171776282_171776283insGGGGGG | CA564775664 | SMIM23 | c.3+2324_3+2325insGGGGGG (n.3+2324_3+2325insGGGGGG)
| gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776282_171776283insGGGGGGG | CA1084362813 | SMIM23 | c.3+2324_3+2325insGGGGGGG (n.3+2324_3+2325insGGGGGGG)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776282_171776283insGGGGGGGG | CA2541410200 | SMIM23 | c.3+2324_3+2325insGGGGGGGG (n.3+2324_3+2325insGGGGGGGG)
| |
| 5 | g.171776282_171776283insGGGGGGGGGGGTGGGGGGGGGG | CA2769418519 | SMIM23 | c.3+2324_3+2325insGGGGGGGGGGGTGGGGGGGGGG (n.3+2324_3+2325insGGGGGGGGGGGTGGGGGGGGGG)
| |
| 5 | g.171776282_171776283insGGGGGGGGGGGGGGGGGGGGGGGG | CA1084362814 | SMIM23 | c.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGG (n.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776282_171776283insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2769418521 | SMIM23 | c.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGGG (n.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGGG)
| |
| 5 | g.171776282_171776283insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1084362815 | SMIM23 | c.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGGGG (n.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGGGGGG)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776282_171776283insGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG | CA2769418520 | SMIM23 | c.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG (n.3+2324_3+2325insGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGG)
| |
| 5 | g.171776282dup | CA1084362812 | SMIM23 | c.3+2324dup (n.3+2324dup)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776282del | CA1600979163 | SMIM23 | c.3+2324del (n.3+2324del)
| dbSNP |
| 5 | g.171776280G>A | CA2606356824 | SMIM23 | c.3+2322G>A (n.3+2322G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776282G= | CA1600979167 | SMIM23 | c.3+2324G= (n.3+2324G=)
| |
| 5 | g.171776282G>T | CA807545537 | SMIM23 | c.3+2324G>T (n.3+2324G>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776283T>A | CA2606356825 | SMIM23 | c.3+2325T>A (n.3+2325T>A)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776283T>G | CA1084362817 | SMIM23 | c.3+2325T>G (n.3+2325T>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776288T>G | CA1084362819 | SMIM23 | c.3+2330T>G (n.3+2330T>G)
| gnomAD v3 gnomAD v4 |
| 5 | g.171776293C= | CA1600979171 | SMIM23 | c.3+2335C= (n.3+2335C=)
| |
| 5 | g.171776293C>T | CA1600979174 | SMIM23 | c.3+2335C>T (n.3+2335C>T)
| dbSNP |
| 5 | g.171776296C= | CA1600979176 | SMIM23 | c.3+2338C= (n.3+2338C=)
| |
| 5 | g.171776296C>T | CA1600979178 | SMIM23 | c.3+2338C>T (n.3+2338C>T)
| dbSNP |
| 5 | g.171776299G>A | CA807545539 | SMIM23 | c.3+2341G>A (n.3+2341G>A)
| dbSNP |
| 5 | g.171776299G= | CA1600979180 | SMIM23 | c.3+2341G= (n.3+2341G=)
| |
| 5 | g.171776299G>T | CA1600979183 | SMIM23 | c.3+2341G>T (n.3+2341G>T)
| dbSNP |
| 5 | g.171776302G>A | CA1600979188 | SMIM23 | c.3+2344G>A (n.3+2344G>A)
| dbSNP |
| 5 | g.171776302G= | CA1600979186 | SMIM23 | c.3+2344G= (n.3+2344G=)
| |
| 5 | g.171776303C= | CA1600979194 | SMIM23 | c.3+2345C= (n.3+2345C=)
| |
| 5 | g.171776303C>T | CA807545548 | SMIM23 | c.3+2345C>T (n.3+2345C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776306G>A | CA132480097 | SMIM23 | c.3+2348G>A (n.3+2348G>A)
| dbSNP |
| 5 | g.171776306G= | CA1600979197 | SMIM23 | c.3+2348G= (n.3+2348G=)
| |
| 5 | g.171776308C= | CA1600979200 | SMIM23 | c.3+2350C= (n.3+2350C=)
| |
| 5 | g.171776308C>T | CA1600979201 | SMIM23 | c.3+2350C>T (n.3+2350C>T)
| dbSNP |
| 5 | g.171776313C>T | CA2606356827 | SMIM23 | c.3+2355C>T (n.3+2355C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776314_171776315delinsAG | CA1600979202 | SMIM23 | c.3+2356_3+2357delinsAG (n.3+2356_3+2357delinsAG)
| |
| 5 | g.171776315del | CA1084362820 | SMIM23 | c.3+2357del (n.3+2357del)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776316C= | CA1600979204 | SMIM23 | c.3+2358C= (n.3+2358C=)
| |
| 5 | g.171776316C>G | CA564775665 | SMIM23 | c.3+2358C>G (n.3+2358C>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776317C>T | CA2504726850 | SMIM23 | c.3+2359C>T (n.3+2359C>T)
| |
| 5 | g.171776324C= | CA1600979207 | SMIM23 | c.3+2366C= (n.3+2366C=)
| |
| 5 | g.171776324C>T | CA132480098 | SMIM23 | c.3+2366C>T (n.3+2366C>T)
| dbSNP |
| 5 | g.171776325C= | CA1600979210 | SMIM23 | c.3+2367C= (n.3+2367C=)
| |
| 5 | g.171776325C>T | CA564775666 | SMIM23 | c.3+2367C>T (n.3+2367C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776327G>A | CA132480099 | SMIM23 | c.3+2369G>A (n.3+2369G>A)
| dbSNP |
| 5 | g.171776327G>C | CA1600979216 | SMIM23 | c.3+2369G>C (n.3+2369G>C)
| dbSNP |
| 5 | g.171776327G= | CA1600979215 | SMIM23 | c.3+2369G= (n.3+2369G=)
| |
| 5 | g.171776329C>T | CA2549268716 | SMIM23 | c.3+2371C>T (n.3+2371C>T)
| |
| 5 | g.171776331A= | CA1600979220 | SMIM23 | c.3+2373A= (n.3+2373A=)
| |
| 5 | g.171776331A>G | CA807545564 | SMIM23 | c.3+2373A>G (n.3+2373A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.171776332C= | CA1600979224 | SMIM23 | c.3+2374C= (n.3+2374C=)
| |
| 5 | g.171776332C>T | CA132480100 | SMIM23 | c.3+2374C>T (n.3+2374C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.171776334del | CA2559042266 | SMIM23 | c.3+2376del (n.3+2376del)
| |
| 5 | g.171776334A= | CA1600979227 | SMIM23 | c.3+2376A= (n.3+2376A=)
| |
| 5 | g.171776334A>C | CA1600979228 | SMIM23 | c.3+2376A>C (n.3+2376A>C)
| dbSNP |
| 5 | g.171776334A>G | CA132480101 | SMIM23 | c.3+2376A>G (n.3+2376A>G)
| dbSNP |
| 5 | g.171776336A= | CA1600979234 | SMIM23 | c.3+2378A= (n.3+2378A=)
| |
| 5 | g.171776336A>G | CA807545567 | SMIM23 | c.3+2378A>G (n.3+2378A>G)
| dbSNP |
| 5 | g.171776336A>T | CA1600979232 | SMIM23 | c.3+2378A>T (n.3+2378A>T)
| dbSNP |
| 5 | g.171776340C= | CA1600979236 | SMIM23 | c.3+2382C= (n.3+2382C=)
| |
| 5 | g.171776340C>T | CA132480102 | SMIM23 | c.3+2382C>T (n.3+2382C>T)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
