Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.45804005_45804006insGAAAAAAAAAGAAAAGAAAAAGGAAAAAAAAAAAAAAAAA | CA996342801 | RSPH6A | c.1653+258_1653+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT) c.861+258_861+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT (n.861+258_861+259insTTTTTCCTTTTTCTTTTCTTTTTTTTTCTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAAAAAAAAAAAAAA | CA996342820 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTT) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAAAAAAAAAAAAAAA | CA996342810 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAAAAAAAAAAAAAAAA | CA996342808 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAAAAAAAAAAAAAAAAA | CA2814566565 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTT) | |
19 | g.45804006_45804007insAAAAAAAAAAAAAAAAAAAAA | CA996342807 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAAAAAAAAAAAAAAAAAAAAAAA | CA2582198548 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006_45804007insAGAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA996342804 | RSPH6A | c.1653+258_1653+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT (n.1653+258_1653+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT) c.861+258_861+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT (n.861+258_861+259insTTTTTTTTTTTTTTTTCTTTTTTTTTTCTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804006dup | CA633359344 | RSPH6A | c.1653+258dup (n.1653+258dup) c.861+258dup (n.861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804005_45804006dup | CA308996899 | RSPH6A | c.1653+257_1653+258dup (n.1653+257_1653+258dup) c.861+257_861+258dup (n.861+257_861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804004_45804006dup | CA633359345 | RSPH6A | c.1653+256_1653+258dup (n.1653+256_1653+258dup) c.861+256_861+258dup (n.861+256_861+258dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804003_45804006dup | CA920119526 | RSPH6A | c.1653+255_1653+258dup (n.1653+255_1653+258dup) c.861+255_861+258dup (n.861+255_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804002_45804006dup | CA996342850 | RSPH6A | c.1653+254_1653+258dup (n.1653+254_1653+258dup) c.861+254_861+258dup (n.861+254_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804001_45804006dup | CA996342831 | RSPH6A | c.1653+253_1653+258dup (n.1653+253_1653+258dup) c.861+253_861+258dup (n.861+253_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804000_45804006dup | CA996342829 | RSPH6A | c.1653+252_1653+258dup (n.1653+252_1653+258dup) c.861+252_861+258dup (n.861+252_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45803999_45804006dup | CA996342828 | RSPH6A | c.1653+251_1653+258dup (n.1653+251_1653+258dup) c.861+251_861+258dup (n.861+251_861+258dup) | gnomAD v3 gnomAD v4 |
19 | g.45803998_45804006dup | CA996342825 | RSPH6A | c.1653+250_1653+258dup (n.1653+250_1653+258dup) c.861+250_861+258dup (n.861+250_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45803997_45804006dup | CA996342793 | RSPH6A | c.1653+249_1653+258dup (n.1653+249_1653+258dup) c.861+249_861+258dup (n.861+249_861+258dup) | gnomAD v3 gnomAD v4 |
19 | g.45803996_45804006dup | CA996342822 | RSPH6A | c.1653+248_1653+258dup (n.1653+248_1653+258dup) c.861+248_861+258dup (n.861+248_861+258dup) | gnomAD v3 gnomAD v4 |
19 | g.45803995_45804006dup | CA996342821 | RSPH6A | c.1653+247_1653+258dup (n.1653+247_1653+258dup) c.861+247_861+258dup (n.861+247_861+258dup) | gnomAD v3 gnomAD v4 |
19 | g.45803994_45804006dup | CA996342857 | RSPH6A | c.1653+246_1653+258dup (n.1653+246_1653+258dup) c.861+246_861+258dup (n.861+246_861+258dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804006del | CA308996901 | RSPH6A | c.1653+258del (n.1653+258del) c.861+258del (n.861+258del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804005_45804006del | CA633359342 | RSPH6A | c.1653+257_1653+258del (n.1653+257_1653+258del) c.861+257_861+258del (n.861+257_861+258del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804004_45804006del | CA996342797 | RSPH6A | c.1653+256_1653+258del (n.1653+256_1653+258del) c.861+256_861+258del (n.861+256_861+258del) | gnomAD v3 gnomAD v4 |
19 | g.45804003_45804006del | CA996342795 | RSPH6A | c.1653+255_1653+258del (n.1653+255_1653+258del) c.861+255_861+258del (n.861+255_861+258del) | gnomAD v3 gnomAD v4 |
19 | g.45804001_45804007delinsAAAAAAG | CA2338614806 | RSPH6A | c.1653+245_1653+251delinsCTTTTTT (n.1653+245_1653+251delinsCTTTTTT) c.861+245_861+251delinsCTTTTTT (n.861+245_861+251delinsCTTTTTT) | |
19 | g.45804001_45804012delinsAAAAAAGAAAAG | CA2338614807 | RSPH6A | c.1653+240_1653+251delinsCTTTTCTTTTTT (n.1653+240_1653+251delinsCTTTTCTTTTTT) c.861+240_861+251delinsCTTTTCTTTTTT (n.861+240_861+251delinsCTTTTCTTTTTT) | |
19 | g.45804001_45804002insC | CA2736077991 | RSPH6A | c.1653+250_1653+251insG (n.1653+250_1653+251insG) c.861+250_861+251insG (n.861+250_861+251insG) | dbSNP |
19 | g.45804002A= | CA2338614809 | RSPH6A | c.1653+250T= (n.1653+250T=) c.861+250T= (n.861+250T=) | |
19 | g.45804002A>G | CA2338614808 | RSPH6A | c.1653+250T>C (n.1653+250T>C) c.861+250T>C (n.861+250T>C) | dbSNP |
19 | g.45804006_45804011del | CA308996902 | RSPH6A | c.1653+245_1653+250del (n.1653+245_1653+250del) c.861+245_861+250del (n.861+245_861+250del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804002_45804012delinsAAAAAGAAAAG | CA2338614810 | RSPH6A | c.1653+240_1653+250delinsCTTTTCTTTTT (n.1653+240_1653+250delinsCTTTTCTTTTT) c.861+240_861+250delinsCTTTTCTTTTT (n.861+240_861+250delinsCTTTTCTTTTT) | |
19 | g.45804006_45804016del | CA633359348 | RSPH6A | c.1653+240_1653+250del (n.1653+240_1653+250del) c.861+240_861+250del (n.861+240_861+250del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804003A= | CA2338614811 | RSPH6A | c.1653+249T= (n.1653+249T=) c.861+249T= (n.861+249T=) | |
19 | g.45804003A>C | CA882762732 | RSPH6A | c.1653+249T>G (n.1653+249T>G) c.861+249T>G (n.861+249T>G) | dbSNP |
19 | g.45804005_45804006insGAAA | CA308996905 | RSPH6A | c.1653+249_1653+250insCTTT (n.1653+249_1653+250insCTTT) c.861+249_861+250insCTTT (n.861+249_861+250insCTTT) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804003_45804007delinsAAAAG | CA2338614812 | RSPH6A | c.1653+245_1653+249delinsCTTTT (n.1653+245_1653+249delinsCTTTT) c.861+245_861+249delinsCTTTT (n.861+245_861+249delinsCTTTT) | |
19 | g.45804022_45804026dup | CA996342882 | RSPH6A | c.1653+245_1653+249dup (n.1653+245_1653+249dup) c.861+245_861+249dup (n.861+245_861+249dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804022_45804026del | CA633359350 | RSPH6A | c.1653+245_1653+249del (n.1653+245_1653+249del) c.861+245_861+249del (n.861+245_861+249del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804017_45804026del | CA633359349 | RSPH6A | c.1653+240_1653+249del (n.1653+240_1653+249del) c.861+240_861+249del (n.861+240_861+249del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804004_45804007delinsAAAG | CA2338614813 | RSPH6A | c.1653+245_1653+248delinsCTTT (n.1653+245_1653+248delinsCTTT) c.861+245_861+248delinsCTTT (n.861+245_861+248delinsCTTT) | |
19 | g.45804007_45804010dup | CA996342890 | RSPH6A | c.1653+245_1653+248dup (n.1653+245_1653+248dup) c.861+245_861+248dup (n.861+245_861+248dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804007_45804010del | CA996342892 | RSPH6A | c.1653+245_1653+248del (n.1653+245_1653+248del) c.861+245_861+248del (n.861+245_861+248del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804004_45804012delinsAAAGAAAAG | CA2338614814 | RSPH6A | c.1653+240_1653+248delinsCTTTTCTTT (n.1653+240_1653+248delinsCTTTTCTTT) c.861+240_861+248delinsCTTTTCTTT (n.861+240_861+248delinsCTTTTCTTT) | |
19 | g.45804007_45804009del | CA633359351 | RSPH6A | c.1653+245_1653+247del (n.1653+245_1653+247del) c.861+245_861+247del (n.861+245_861+247del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804007_45804014del | CA996342899 | RSPH6A | c.1653+240_1653+247del (n.1653+240_1653+247del) c.861+240_861+247del (n.861+240_861+247del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804007_45804008del | CA996342901 | RSPH6A | c.1653+245_1653+246del (n.1653+245_1653+246del) c.861+245_861+246del (n.861+245_861+246del) | gnomAD v3 gnomAD v4 |
19 | g.45804007del | CA996342908 | RSPH6A | c.1653+245del (n.1653+245del) c.861+245del (n.861+245del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804007G>A | CA633359352 | RSPH6A | c.1653+245C>T (n.1653+245C>T) c.861+245C>T (n.861+245C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.45804007G= | CA2338614815 | RSPH6A | c.1653+245C= (n.1653+245C=) c.861+245C= (n.861+245C=) | |
19 | g.45804007G>T | CA2735900331 | RSPH6A | c.1653+245C>A (n.1653+245C>A) c.861+245C>A (n.861+245C>A) | dbSNP |
19 | g.45804011_45804012delinsAG | CA2338614816 | RSPH6A | c.1653+240_1653+241delinsCT (n.1653+240_1653+241delinsCT) c.861+240_861+241delinsCT (n.861+240_861+241delinsCT) | |
19 | g.45804012del | CA2338614817 | RSPH6A | c.1653+240del (n.1653+240del) c.861+240del (n.861+240del) | dbSNP |
19 | g.45804012G>A | CA633359353 | RSPH6A | c.1653+240C>T (n.1653+240C>T) c.861+240C>T (n.861+240C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804012G>C | CA882762752 | RSPH6A | c.1653+240C>G (n.1653+240C>G) c.861+240C>G (n.861+240C>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804012G= | CA2338614818 | RSPH6A | c.1653+240C= (n.1653+240C=) c.861+240C= (n.861+240C=) | |
19 | g.45804012G>T | CA996342920 | RSPH6A | c.1653+240C>A (n.1653+240C>A) c.861+240C>A (n.861+240C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804012_45804023delinsGAAAAGAAAAGA | CA2338614819 | RSPH6A | c.1653+229_1653+240delinsTCTTTTCTTTTC (n.1653+229_1653+240delinsTCTTTTCTTTTC) c.861+229_861+240delinsTCTTTTCTTTTC (n.861+229_861+240delinsTCTTTTCTTTTC) | |
19 | g.45804013A>G | CA2814566566 | RSPH6A | c.1653+239T>C (n.1653+239T>C) c.861+239T>C (n.861+239T>C) | |
19 | g.45804022_45804032del | CA882762755 | RSPH6A | c.1653+229_1653+239del (n.1653+229_1653+239del) c.861+229_861+239del (n.861+229_861+239del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804017del | CA2572852942 | RSPH6A | c.1653+235del (n.1653+235del) c.861+235del (n.861+235del) | |
19 | g.45804017G>A | CA633359354 | RSPH6A | c.1653+235C>T (n.1653+235C>T) c.861+235C>T (n.861+235C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804017G>C | CA2814566567 | RSPH6A | c.1653+235C>G (n.1653+235C>G) c.861+235C>G (n.861+235C>G) | |
19 | g.45804017G= | CA2338614820 | RSPH6A | c.1653+235C= (n.1653+235C=) c.861+235C= (n.861+235C=) | |
19 | g.45804021_45804022insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAA | CA2814566568 | RSPH6A | c.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+234_1653+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) c.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT (n.861+234_861+235insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT) | |
19 | g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAAA | CA996342933 | RSPH6A | c.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804021_45804022insAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA996342934 | RSPH6A | c.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+234_1653+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+234_861+235insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804021dup | CA308996907 | RSPH6A | c.1653+234dup (n.1653+234dup) c.861+234dup (n.861+234dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804021_45804022delinsAG | CA2338614821 | RSPH6A | c.1653+230_1653+231delinsCT (n.1653+230_1653+231delinsCT) c.861+230_861+231delinsCT (n.861+230_861+231delinsCT) | |
19 | g.45804022del | CA308996908 | RSPH6A | c.1653+230del (n.1653+230del) c.861+230del (n.861+230del) | dbSNP |
19 | g.45804022G>A | CA308996910 | RSPH6A | c.1653+230C>T (n.1653+230C>T) c.861+230C>T (n.861+230C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804022G>C | CA2814566569 | RSPH6A | c.1653+230C>G (n.1653+230C>G) c.861+230C>G (n.861+230C>G) | |
19 | g.45804022G= | CA2338614823 | RSPH6A | c.1653+230C= (n.1653+230C=) c.861+230C= (n.861+230C=) | |
19 | g.45804022G>T | CA882762761 | RSPH6A | c.1653+230C>A (n.1653+230C>A) c.861+230C>A (n.861+230C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804022_45804031delinsGAAAAAGAAA | CA2338614822 | RSPH6A | c.1653+221_1653+230delinsTTTCTTTTTC (n.1653+221_1653+230delinsTTTCTTTTTC) c.861+221_861+230delinsTTTCTTTTTC (n.861+221_861+230delinsTTTCTTTTTC) | |
19 | g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAAAAAA | CA996342938 | RSPH6A | c.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.1653+229_1653+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) c.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT (n.861+229_861+230insTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTCTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804031_45804039del | CA2338614824 | RSPH6A | c.1653+221_1653+229del (n.1653+221_1653+229del) c.861+221_861+229del (n.861+221_861+229del) | dbSNP |
19 | g.45804024A= | CA2338614825 | RSPH6A | c.1653+228T= (n.1653+228T=) c.861+228T= (n.861+228T=) | |
19 | g.45804024A>G | CA308996912 | RSPH6A | c.1653+228T>C (n.1653+228T>C) c.861+228T>C (n.861+228T>C) | dbSNP |
19 | g.45804024_45804028delinsAAAAG | CA2338614826 | RSPH6A | c.1653+224_1653+228delinsCTTTT (n.1653+224_1653+228delinsCTTTT) c.861+224_861+228delinsCTTTT (n.861+224_861+228delinsCTTTT) | |
19 | g.45804025A= | CA2338614827 | RSPH6A | c.1653+227T= (n.1653+227T=) c.861+227T= (n.861+227T=) | |
19 | g.45804025A>G | CA308996915 | RSPH6A | c.1653+227T>C (n.1653+227T>C) c.861+227T>C (n.861+227T>C) | dbSNP |
19 | g.45804028_45804031del | CA882762772 | RSPH6A | c.1653+224_1653+227del (n.1653+224_1653+227del) c.861+224_861+227del (n.861+224_861+227del) | dbSNP |
19 | g.45804028G>A | CA633359355 | RSPH6A | c.1653+224C>T (n.1653+224C>T) c.861+224C>T (n.861+224C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804028G= | CA2338614828 | RSPH6A | c.1653+224C= (n.1653+224C=) c.861+224C= (n.861+224C=) | |
19 | g.45804028G>T | CA2741634619 | RSPH6A | c.1653+224C>A (n.1653+224C>A) c.861+224C>A (n.861+224C>A) | |
19 | g.45804028_45804031delinsGAAA | CA2338614829 | RSPH6A | c.1653+221_1653+224delinsTTTC (n.1653+221_1653+224delinsTTTC) c.861+221_861+224delinsTTTC (n.861+221_861+224delinsTTTC) | |
19 | g.45804036_45804037insAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAA | CA996342940 | RSPH6A | c.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.1653+223_1653+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT) c.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT (n.861+223_861+224insTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT) | gnomAD v3 gnomAD v4 |
19 | g.45804036dup | CA633359356 | RSPH6A | c.1653+223dup (n.1653+223dup) c.861+223dup (n.861+223dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804034_45804036del | CA996342942 | RSPH6A | c.1653+221_1653+223del (n.1653+221_1653+223del) c.861+221_861+223del (n.861+221_861+223del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804032_45804037delinsAAAAAG | CA2338614830 | RSPH6A | c.1653+215_1653+220delinsCTTTTT (n.1653+215_1653+220delinsCTTTTT) c.861+215_861+220delinsCTTTTT (n.861+215_861+220delinsCTTTTT) | |
19 | g.45804035_45804039del | CA2338614831 | RSPH6A | c.1653+215_1653+219del (n.1653+215_1653+219del) c.861+215_861+219del (n.861+215_861+219del) | dbSNP |
19 | g.45804034A>T | CA2741634620 | RSPH6A | c.1653+218T>A (n.1653+218T>A) c.861+218T>A (n.861+218T>A) | |
19 | g.45804035A= | CA2338614832 | RSPH6A | c.1653+217T= (n.1653+217T=) c.861+217T= (n.861+217T=) | |
19 | g.45804035A>G | CA308996917 | RSPH6A | c.1653+217T>C (n.1653+217T>C) c.861+217T>C (n.861+217T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804036A= | CA2338614833 | RSPH6A | c.1653+216T= (n.1653+216T=) c.861+216T= (n.861+216T=) | |
19 | g.45804036_45804040delinsAGAAG | CA2338614834 | RSPH6A | c.1653+212_1653+216delinsCTTCT (n.1653+212_1653+216delinsCTTCT) c.861+212_861+216delinsCTTCT (n.861+212_861+216delinsCTTCT) | |
19 | g.45804037G>A | CA882762785 | RSPH6A | c.1653+215C>T (n.1653+215C>T) c.861+215C>T (n.861+215C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804037G= | CA2338614835 | RSPH6A | c.1653+215C= (n.1653+215C=) c.861+215C= (n.861+215C=) | |
19 | g.45804037dup | CA882762780 | RSPH6A | c.1653+215dup (n.1653+215dup) c.861+215dup (n.861+215dup) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804037_45804040del | CA996342946 | RSPH6A | c.1653+212_1653+215del (n.1653+212_1653+215del) c.861+212_861+215del (n.861+212_861+215del) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804037_45804041delinsGAAGA | CA2338614836 | RSPH6A | c.1653+211_1653+215delinsTCTTC (n.1653+211_1653+215delinsTCTTC) c.861+211_861+215delinsTCTTC (n.861+211_861+215delinsTCTTC) | |
19 | g.45804048_45804051del | CA633359357 | RSPH6A | c.1653+211_1653+214del (n.1653+211_1653+214del) c.861+211_861+214del (n.861+211_861+214del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804040G>A | CA996342955 | RSPH6A | c.1653+212C>T (n.1653+212C>T) c.861+212C>T (n.861+212C>T) | gnomAD v3 gnomAD v4 |
19 | g.45804042A= | CA2338614837 | RSPH6A | c.1653+210T= (n.1653+210T=) c.861+210T= (n.861+210T=) | |
19 | g.45804042A>C | CA996342956 | RSPH6A | c.1653+210T>G (n.1653+210T>G) c.861+210T>G (n.861+210T>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804044G>A | CA996342960 | RSPH6A | c.1653+208C>T (n.1653+208C>T) c.861+208C>T (n.861+208C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804044G= | CA2338614838 | RSPH6A | c.1653+208C= (n.1653+208C=) c.861+208C= (n.861+208C=) | |
19 | g.45804045A= | CA2338614839 | RSPH6A | c.1653+207T= (n.1653+207T=) c.861+207T= (n.861+207T=) | |
19 | g.45804045A>G | CA308996920 | RSPH6A | c.1653+207T>C (n.1653+207T>C) c.861+207T>C (n.861+207T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804053_45804057dup | CA308996919 | RSPH6A | c.1653+203_1653+207dup (n.1653+203_1653+207dup) c.861+203_861+207dup (n.861+203_861+207dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804047A= | CA2338614840 | RSPH6A | c.1653+205T= (n.1653+205T=) c.861+205T= (n.861+205T=) | |
19 | g.45804047A>G | CA996342967 | RSPH6A | c.1653+205T>C (n.1653+205T>C) c.861+205T>C (n.861+205T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804048G>A | CA308996922 | RSPH6A | c.1653+204C>T (n.1653+204C>T) c.861+204C>T (n.861+204C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804048G= | CA2338614841 | RSPH6A | c.1653+204C= (n.1653+204C=) c.861+204C= (n.861+204C=) | |
19 | g.45804048G>T | CA657534327 | RSPH6A | c.1653+204C>A (n.1653+204C>A) c.861+204C>A (n.861+204C>A) | COSMIC |
19 | g.45804053G>A | CA996342974 | RSPH6A | c.1653+199C>T (n.1653+199C>T) c.861+199C>T (n.861+199C>T) | gnomAD v3 gnomAD v4 |
19 | g.45804053_45804054delinsGA | CA2338614842 | RSPH6A | c.1653+198_1653+199delinsTC (n.1653+198_1653+199delinsTC) c.861+198_861+199delinsTC (n.861+198_861+199delinsTC) | |
19 | g.45804054A= | CA2338614843 | RSPH6A | c.1653+198T= (n.1653+198T=) c.861+198T= (n.861+198T=) | |
19 | g.45804054A>G | CA2338614844 | RSPH6A | c.1653+198T>C (n.1653+198T>C) c.861+198T>C (n.861+198T>C) | dbSNP |
19 | g.45804062dup | CA308996925 | RSPH6A | c.1653+198dup (n.1653+198dup) c.861+198dup (n.861+198dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804062del | CA308996926 | RSPH6A | c.1653+198del (n.1653+198del) c.861+198del (n.861+198del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804055A= | CA2338614845 | RSPH6A | c.1653+197T= (n.1653+197T=) c.861+197T= (n.861+197T=) | |
19 | g.45804055_45804056insGT | CA2338614846 | RSPH6A | c.1653+196_1653+197insAC (n.1653+196_1653+197insAC) c.861+196_861+197insAC (n.861+196_861+197insAC) | dbSNP |
19 | g.45804058A= | CA2338614847 | RSPH6A | c.1653+194T= (n.1653+194T=) c.861+194T= (n.861+194T=) | |
19 | g.45804058A>G | CA308996929 | RSPH6A | c.1653+194T>C (n.1653+194T>C) c.861+194T>C (n.861+194T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804059A= | CA2338614848 | RSPH6A | c.1653+193T= (n.1653+193T=) c.861+193T= (n.861+193T=) | |
19 | g.45804059_45804060insCTGG | CA2338614849 | RSPH6A | c.1653+192_1653+193insCCAG (n.1653+192_1653+193insCCAG) c.861+192_861+193insCCAG (n.861+192_861+193insCCAG) | dbSNP |
19 | g.45804060A= | CA2338614850 | RSPH6A | c.1653+192T= (n.1653+192T=) c.861+192T= (n.861+192T=) | |
19 | g.45804060A>C | CA882762796 | RSPH6A | c.1653+192T>G (n.1653+192T>G) c.861+192T>G (n.861+192T>G) | dbSNP |
19 | g.45804060A>T | CA308996932 | RSPH6A | c.1653+192T>A (n.1653+192T>A) c.861+192T>A (n.861+192T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804062_45804063insATTCCCAAGTTTGTGGAAATTAAACAA | CA2338614851 | RSPH6A | c.1653+191_1653+192insGTTTAATTTCCACAAACTTGGGAATTT (n.1653+191_1653+192insGTTTAATTTCCACAAACTTGGGAATTT) c.861+191_861+192insGTTTAATTTCCACAAACTTGGGAATTT (n.861+191_861+192insGTTTAATTTCCACAAACTTGGGAATTT) | dbSNP |
19 | g.45804061_45804062insT | CA2582198549 | RSPH6A | c.1653+190_1653+191insA (n.1653+190_1653+191insA) c.861+190_861+191insA (n.861+190_861+191insA) | gnomAD v3 gnomAD v4 |
19 | g.45804062A= | CA2338614852 | RSPH6A | c.1653+190T= (n.1653+190T=) c.861+190T= (n.861+190T=) | |
19 | g.45804062A>T | CA2338614853 | RSPH6A | c.1653+190T>A (n.1653+190T>A) c.861+190T>A (n.861+190T>A) | dbSNP |
19 | g.45804063T>A | CA2582198550 | RSPH6A | c.1653+189A>T (n.1653+189A>T) c.861+189A>T (n.861+189A>T) | gnomAD v3 gnomAD v4 |
19 | g.45804065C= | CA2338614854 | RSPH6A | c.1653+187G= (n.1653+187G=) c.861+187G= (n.861+187G=) | |
19 | g.45804065C>T | CA633359358 | RSPH6A | c.1653+187G>A (n.1653+187G>A) c.861+187G>A (n.861+187G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804066C>A | CA2338614856 | RSPH6A | c.1653+186G>T (n.1653+186G>T) c.861+186G>T (n.861+186G>T) | dbSNP |
19 | g.45804066C= | CA2338614855 | RSPH6A | c.1653+186G= (n.1653+186G=) c.861+186G= (n.861+186G=) | |
19 | g.45804066C>T | CA2338614857 | RSPH6A | c.1653+186G>A (n.1653+186G>A) c.861+186G>A (n.861+186G>A) | dbSNP |
19 | g.45804068C= | CA2338614858 | RSPH6A | c.1653+184G= (n.1653+184G=) c.861+184G= (n.861+184G=) | |
19 | g.45804068C>T | CA882762806 | RSPH6A | c.1653+184G>A (n.1653+184G>A) c.861+184G>A (n.861+184G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804073C= | CA2338614859 | RSPH6A | c.1653+179G= (n.1653+179G=) c.861+179G= (n.861+179G=) | |
19 | g.45804073C>T | CA308996934 | RSPH6A | c.1653+179G>A (n.1653+179G>A) c.861+179G>A (n.861+179G>A) | dbSNP |
19 | g.45804076A= | CA2338614860 | RSPH6A | c.1653+176T= (n.1653+176T=) c.861+176T= (n.861+176T=) | |
19 | g.45804076A>T | CA996343006 | RSPH6A | c.1653+176T>A (n.1653+176T>A) c.861+176T>A (n.861+176T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804077A= | CA2338614861 | RSPH6A | c.1653+175T= (n.1653+175T=) c.861+175T= (n.861+175T=) | |
19 | g.45804077A>G | CA882762810 | RSPH6A | c.1653+175T>C (n.1653+175T>C) c.861+175T>C (n.861+175T>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804089G>A | CA2338614863 | RSPH6A | c.1653+163C>T (n.1653+163C>T) c.861+163C>T (n.861+163C>T) | dbSNP |
19 | g.45804089G= | CA2338614862 | RSPH6A | c.1653+163C= (n.1653+163C=) c.861+163C= (n.861+163C=) | |
19 | g.45804091G>A | CA2582198551 | RSPH6A | c.1653+161C>T (n.1653+161C>T) c.861+161C>T (n.861+161C>T) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804091G>C | CA882762813 | RSPH6A | c.1653+161C>G (n.1653+161C>G) c.861+161C>G (n.861+161C>G) | dbSNP |
19 | g.45804091G= | CA2338614864 | RSPH6A | c.1653+161C= (n.1653+161C=) c.861+161C= (n.861+161C=) | |
19 | g.45804098C>A | CA308996937 | RSPH6A | c.1653+154G>T (n.1653+154G>T) c.861+154G>T (n.861+154G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804098C= | CA2338614865 | RSPH6A | c.1653+154G= (n.1653+154G=) c.861+154G= (n.861+154G=) | |
19 | g.45804098C>T | CA308996938 | RSPH6A | c.1653+154G>A (n.1653+154G>A) c.861+154G>A (n.861+154G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.45804099G>A | CA308996941 | RSPH6A | c.1653+153C>T (n.1653+153C>T) c.861+153C>T (n.861+153C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.45804099G= | CA2338614866 | RSPH6A | c.1653+153C= (n.1653+153C=) c.861+153C= (n.861+153C=) | |
19 | g.45804101T>C | CA2585868875 | RSPH6A | c.1653+151A>G (n.1653+151A>G) c.861+151A>G (n.861+151A>G) | gnomAD v4 |